diff --git a/notebooks/TBCK/TBCK_IHPRF3_individuals.ipynb b/notebooks/TBCK/TBCK_IHPRF3_individuals.ipynb index 6fb997c29..a61c5f36c 100644 --- a/notebooks/TBCK/TBCK_IHPRF3_individuals.ipynb +++ b/notebooks/TBCK/TBCK_IHPRF3_individuals.ipynb @@ -10,27 +10,19 @@ }, { "cell_type": "code", - "execution_count": 1, + "execution_count": 9, "metadata": {}, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ - "Using pyphetools version 0.9.80\n" - ] - }, - { - "name": "stderr", - "output_type": "stream", - "text": [ - "/Users/robin/GIT/phenopacket-store/ps24venv/lib/python3.9/site-packages/urllib3/__init__.py:35: NotOpenSSLWarning: urllib3 v2 only supports OpenSSL 1.1.1+, currently the 'ssl' module is compiled with 'LibreSSL 2.8.3'. See: https://github.com/urllib3/urllib3/issues/3020\n", - " warnings.warn(\n" + "Using pyphetools version 0.9.108\n" ] } ], "source": [ - "from pyphetools.creation import TemplateImporter\n", + "from pyphetools.creation import TemplateImporter, Moi \n", "from pyphetools.visualization import IndividualTable, QcVisualizer\n", "from IPython.display import display, HTML\n", "import pyphetools\n", @@ -39,7 +31,7 @@ }, { "cell_type": "code", - "execution_count": 2, + "execution_count": 10, "metadata": {}, "outputs": [], "source": [ @@ -49,17 +41,19 @@ }, { "cell_type": "code", - "execution_count": 6, + "execution_count": 11, "metadata": {}, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ - "HPO version 2024-04-26\n", - "Created encoders for 77 fields\n", + "HPO version 2024-08-13\n", + "Created encoders for 91 fields\n", "Importing OMIM:616900, Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, HGNC:28261, TBCK, NM_001163435.3\n", - "We output 23 GA4GH phenopackets to the directory phenopackets\n" + "[INFO] encoding variant \"c.490C>T\"\n", + "https://rest.variantvalidator.org/VariantValidator/variantvalidator/hg38/NM_001163435.3%3Ac.490C>T/NM_001163435.3?content-type=application%2Fjson\n", + "We output 27 GA4GH phenopackets to the directory phenopackets\n" ] } ], @@ -71,20 +65,20 @@ }, { "cell_type": "code", - "execution_count": 7, + "execution_count": 12, "metadata": {}, "outputs": [ { "data": { "text/html": [ "
Errors found with 9 of 23 phenopackets.
\n", + "Errors found with 12 of 27 phenopackets.
\n", "Level | Error category | Count |
---|---|---|
WARNING | REDUNDANT | 9 |
WARNING | REDUNDANT | 14 |
A total of 9 issues were fixed and no individual was removed from the cohort.
" + "A total of 14 issues were fixed and no individual was removed from the cohort.
" ], "text/plain": [ "Individual | Disease | Genotype | Phenotypic features |
---|---|---|---|
Individual 1-1a (MALE; P5Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1897+1G>A (homozygous) | Sloping forehead (HP:0000340); Tented upper lip vermilion (HP:0010804); Upslanted palpebral fissure (HP:0000582); Bulbous nose (HP:0000414); Global brain atrophy (HP:0002283); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hyporeflexia (HP:0001265); Seizure (HP:0001250); Hypotonia (HP:0001252); Decreased fetal movement (HP:0001558); Oligohydramnios (HP:0001562); excluded: Macroglossia (HP:0000158); excluded: Coarse facial features (HP:0000280); excluded: 11 pairs of ribs (HP:0000878); excluded: Long philtrum (HP:0000343); excluded: Epicanthus (HP:0000286); excluded: Mandibular prognathia (HP:0000303); excluded: Long eyelashes (HP:0000527); excluded: Synophrys (HP:0000664); excluded: Broad forehead (HP:0000337); excluded: Wide nasal bridge (HP:0000431); excluded: Open mouth (HP:0000194); excluded: Thick vermilion border (HP:0012471); excluded: Prominent metopic ridge (HP:0005487); excluded: Hirsutism (HP:0001007); excluded: Microcephaly (HP:0000252); excluded: Macrocephaly (HP:0000256); excluded: Short neck (HP:0000470); excluded: Corneal opacity (HP:0007957); excluded: Scoliosis (HP:0002650); excluded: Hearing impairment (HP:0000365); excluded: Periventricular leukomalacia (HP:0006970); excluded: Absent speech (HP:0001344); excluded: Developmental regression (HP:0002376); excluded: Deeply set eye (HP:0000490) |
Individual 1-2a (FEMALE; P11Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1897+1G>A (homozygous) | Sloping forehead (HP:0000340); Tented upper lip vermilion (HP:0010804); Bulbous nose (HP:0000414); Periventricular leukomalacia (HP:0006970); Absent speech (HP:0001344); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hyporeflexia (HP:0001265); Seizure (HP:0001250); Hypotonia (HP:0001252); excluded: Macroglossia (HP:0000158); excluded: Coarse facial features (HP:0000280); excluded: 11 pairs of ribs (HP:0000878); excluded: Long philtrum (HP:0000343); excluded: Upslanted palpebral fissure (HP:0000582); excluded: Epicanthus (HP:0000286); excluded: Mandibular prognathia (HP:0000303); excluded: Long eyelashes (HP:0000527); excluded: Synophrys (HP:0000664); excluded: Broad forehead (HP:0000337); excluded: Wide nasal bridge (HP:0000431); excluded: Open mouth (HP:0000194); excluded: Thick vermilion border (HP:0012471); excluded: Prominent metopic ridge (HP:0005487); excluded: Hirsutism (HP:0001007); excluded: Microcephaly (HP:0000252); excluded: Macrocephaly (HP:0000256); excluded: Short neck (HP:0000470); excluded: Corneal opacity (HP:0007957); excluded: Scoliosis (HP:0002650); excluded: Hearing impairment (HP:0000365); excluded: Global brain atrophy (HP:0002283); excluded: Developmental regression (HP:0002376); excluded: Deeply set eye (HP:0000490); excluded: Decreased fetal movement (HP:0001558); excluded: Oligohydramnios (HP:0001562) |
Individual 2-1 (MALE; P5Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.831_832insTA (homozygous) | Macrocephaly (HP:0000256); Absent speech (HP:0001344); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hyporeflexia (HP:0001265); Seizure (HP:0001250); Hypotonia (HP:0001252); excluded: Macroglossia (HP:0000158); excluded: Coarse facial features (HP:0000280); excluded: Sloping forehead (HP:0000340); excluded: 11 pairs of ribs (HP:0000878); excluded: Long philtrum (HP:0000343); excluded: Tented upper lip vermilion (HP:0010804); excluded: Upslanted palpebral fissure (HP:0000582); excluded: Epicanthus (HP:0000286); excluded: Mandibular prognathia (HP:0000303); excluded: Long eyelashes (HP:0000527); excluded: Synophrys (HP:0000664); excluded: Broad forehead (HP:0000337); excluded: Wide nasal bridge (HP:0000431); excluded: Bulbous nose (HP:0000414); excluded: Open mouth (HP:0000194); excluded: Thick vermilion border (HP:0012471); excluded: Prominent metopic ridge (HP:0005487); excluded: Hirsutism (HP:0001007); excluded: Microcephaly (HP:0000252); excluded: Short neck (HP:0000470); excluded: Corneal opacity (HP:0007957); excluded: Scoliosis (HP:0002650); excluded: Hearing impairment (HP:0000365); excluded: Global brain atrophy (HP:0002283); excluded: Periventricular leukomalacia (HP:0006970); excluded: Developmental regression (HP:0002376); excluded: Deeply set eye (HP:0000490); excluded: Decreased fetal movement (HP:0001558); excluded: Oligohydramnios (HP:0001562) |
Individual 3-1 (MALE; P11Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1652T>C (homozygous) | Epicanthus (HP:0000286); Wide nasal bridge (HP:0000431); Scoliosis (HP:0002650); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Deeply set eye (HP:0000490); Hypotonia (HP:0001252); excluded: Macroglossia (HP:0000158); excluded: Coarse facial features (HP:0000280); excluded: Sloping forehead (HP:0000340); excluded: 11 pairs of ribs (HP:0000878); excluded: Long philtrum (HP:0000343); excluded: Tented upper lip vermilion (HP:0010804); excluded: Upslanted palpebral fissure (HP:0000582); excluded: Mandibular prognathia (HP:0000303); excluded: Long eyelashes (HP:0000527); excluded: Synophrys (HP:0000664); excluded: Broad forehead (HP:0000337); excluded: Bulbous nose (HP:0000414); excluded: Open mouth (HP:0000194); excluded: Thick vermilion border (HP:0012471); excluded: Prominent metopic ridge (HP:0005487); excluded: Hirsutism (HP:0001007); excluded: Microcephaly (HP:0000252); excluded: Macrocephaly (HP:0000256); excluded: Short neck (HP:0000470); excluded: Corneal opacity (HP:0007957); excluded: Hearing impairment (HP:0000365); excluded: Global brain atrophy (HP:0002283); excluded: Periventricular leukomalacia (HP:0006970); excluded: Absent speech (HP:0001344); excluded: Developmental regression (HP:0002376); excluded: Hyporeflexia (HP:0001265); excluded: Seizure (HP:0001250); excluded: Decreased fetal movement (HP:0001558); excluded: Oligohydramnios (HP:0001562) |
Individual 4-1 (FEMALE; P4Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) |
| Macrocephaly (HP:0000256); Delayed speech and language development (HP:0000750); Global developmental delay (HP:0001263); Hyporeflexia (HP:0001265); Hypotonia (HP:0001252); excluded: Macroglossia (HP:0000158); excluded: Coarse facial features (HP:0000280); excluded: Sloping forehead (HP:0000340); excluded: 11 pairs of ribs (HP:0000878); excluded: Long philtrum (HP:0000343); excluded: Tented upper lip vermilion (HP:0010804); excluded: Upslanted palpebral fissure (HP:0000582); excluded: Epicanthus (HP:0000286); excluded: Mandibular prognathia (HP:0000303); excluded: Long eyelashes (HP:0000527); excluded: Synophrys (HP:0000664); excluded: Broad forehead (HP:0000337); excluded: Wide nasal bridge (HP:0000431); excluded: Bulbous nose (HP:0000414); excluded: Open mouth (HP:0000194); excluded: Thick vermilion border (HP:0012471); excluded: Prominent metopic ridge (HP:0005487); excluded: Hirsutism (HP:0001007); excluded: Microcephaly (HP:0000252); excluded: Short neck (HP:0000470); excluded: Corneal opacity (HP:0007957); excluded: Scoliosis (HP:0002650); excluded: Hearing impairment (HP:0000365); excluded: Global brain atrophy (HP:0002283); excluded: Periventricular leukomalacia (HP:0006970); excluded: Absent speech (HP:0001344); excluded: Motor delay (HP:0001270); excluded: Developmental regression (HP:0002376); excluded: Seizure (HP:0001250); excluded: Deeply set eye (HP:0000490) |
Individual 4-2 (FEMALE; P2Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) |
| Global brain atrophy (HP:0002283); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hyporeflexia (HP:0001265); Hypotonia (HP:0001252); excluded: Macroglossia (HP:0000158); excluded: Coarse facial features (HP:0000280); excluded: Sloping forehead (HP:0000340); excluded: 11 pairs of ribs (HP:0000878); excluded: Long philtrum (HP:0000343); excluded: Tented upper lip vermilion (HP:0010804); excluded: Upslanted palpebral fissure (HP:0000582); excluded: Epicanthus (HP:0000286); excluded: Mandibular prognathia (HP:0000303); excluded: Long eyelashes (HP:0000527); excluded: Synophrys (HP:0000664); excluded: Broad forehead (HP:0000337); excluded: Wide nasal bridge (HP:0000431); excluded: Bulbous nose (HP:0000414); excluded: Open mouth (HP:0000194); excluded: Thick vermilion border (HP:0012471); excluded: Prominent metopic ridge (HP:0005487); excluded: Hirsutism (HP:0001007); excluded: Microcephaly (HP:0000252); excluded: Macrocephaly (HP:0000256); excluded: Short neck (HP:0000470); excluded: Corneal opacity (HP:0007957); excluded: Scoliosis (HP:0002650); excluded: Hearing impairment (HP:0000365); excluded: Periventricular leukomalacia (HP:0006970); excluded: Absent speech (HP:0001344); excluded: Developmental regression (HP:0002376); excluded: Seizure (HP:0001250); excluded: Deeply set eye (HP:0000490); excluded: Decreased fetal movement (HP:0001558); excluded: Oligohydramnios (HP:0001562) |
Individual 5-1 (FEMALE; P10Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.376C>T (homozygous) | Coarse facial features (HP:0000280); Long eyelashes (HP:0000527); Synophrys (HP:0000664); Hirsutism (HP:0001007); Microcephaly (HP:0000252); Corneal opacity (HP:0007957); Scoliosis (HP:0002650); Absent speech (HP:0001344); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Developmental regression (HP:0002376); Hyporeflexia (HP:0001265); Seizure (HP:0001250); Hypotonia (HP:0001252); excluded: Macroglossia (HP:0000158); excluded: Sloping forehead (HP:0000340); excluded: 11 pairs of ribs (HP:0000878); excluded: Long philtrum (HP:0000343); excluded: Tented upper lip vermilion (HP:0010804); excluded: Upslanted palpebral fissure (HP:0000582); excluded: Epicanthus (HP:0000286); excluded: Mandibular prognathia (HP:0000303); excluded: Broad forehead (HP:0000337); excluded: Wide nasal bridge (HP:0000431); excluded: Bulbous nose (HP:0000414); excluded: Open mouth (HP:0000194); excluded: Thick vermilion border (HP:0012471); excluded: Prominent metopic ridge (HP:0005487); excluded: Macrocephaly (HP:0000256); excluded: Short neck (HP:0000470); excluded: Hearing impairment (HP:0000365); excluded: Global brain atrophy (HP:0002283); excluded: Periventricular leukomalacia (HP:0006970); excluded: Deeply set eye (HP:0000490); excluded: Decreased fetal movement (HP:0001558); excluded: Oligohydramnios (HP:0001562) |
Individual 6-1 (MALE; P12Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1370del (homozygous) | Mandibular prognathia (HP:0000303); Broad forehead (HP:0000337); Bulbous nose (HP:0000414); Open mouth (HP:0000194); Thick vermilion border (HP:0012471); Delayed skeletal maturation (HP:0002750); Hearing impairment (HP:0000365); Absent speech (HP:0001344); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hypotonia (HP:0001252); excluded: Macroglossia (HP:0000158); excluded: Coarse facial features (HP:0000280); excluded: Sloping forehead (HP:0000340); excluded: 11 pairs of ribs (HP:0000878); excluded: Long philtrum (HP:0000343); excluded: Tented upper lip vermilion (HP:0010804); excluded: Upslanted palpebral fissure (HP:0000582); excluded: Epicanthus (HP:0000286); excluded: Long eyelashes (HP:0000527); excluded: Synophrys (HP:0000664); excluded: Wide nasal bridge (HP:0000431); excluded: Prominent metopic ridge (HP:0005487); excluded: Hirsutism (HP:0001007); excluded: Microcephaly (HP:0000252); excluded: Macrocephaly (HP:0000256); excluded: Short neck (HP:0000470); excluded: Corneal opacity (HP:0007957); excluded: Scoliosis (HP:0002650); excluded: Global brain atrophy (HP:0002283); excluded: Periventricular leukomalacia (HP:0006970); excluded: Developmental regression (HP:0002376); excluded: Hyporeflexia (HP:0001265); excluded: Seizure (HP:0001250); excluded: Deeply set eye (HP:0000490); excluded: Decreased fetal movement (HP:0001558); excluded: Oligohydramnios (HP:0001562) |
Individual 6-2 (FEMALE; P3Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1370del (homozygous) | Broad forehead (HP:0000337); Macrocephaly (HP:0000256); Short neck (HP:0000470); Delayed skeletal maturation (HP:0002750); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hypotonia (HP:0001252); excluded: Macroglossia (HP:0000158); excluded: Coarse facial features (HP:0000280); excluded: Sloping forehead (HP:0000340); excluded: 11 pairs of ribs (HP:0000878); excluded: Long philtrum (HP:0000343); excluded: Tented upper lip vermilion (HP:0010804); excluded: Upslanted palpebral fissure (HP:0000582); excluded: Epicanthus (HP:0000286); excluded: Mandibular prognathia (HP:0000303); excluded: Long eyelashes (HP:0000527); excluded: Synophrys (HP:0000664); excluded: Wide nasal bridge (HP:0000431); excluded: Bulbous nose (HP:0000414); excluded: Open mouth (HP:0000194); excluded: Thick vermilion border (HP:0012471); excluded: Prominent metopic ridge (HP:0005487); excluded: Hirsutism (HP:0001007); excluded: Microcephaly (HP:0000252); excluded: Corneal opacity (HP:0007957); excluded: Scoliosis (HP:0002650); excluded: Hearing impairment (HP:0000365); excluded: Global brain atrophy (HP:0002283); excluded: Periventricular leukomalacia (HP:0006970); excluded: Absent speech (HP:0001344); excluded: Developmental regression (HP:0002376); excluded: Hyporeflexia (HP:0001265); excluded: Seizure (HP:0001250); excluded: Deeply set eye (HP:0000490); excluded: Decreased fetal movement (HP:0001558); excluded: Oligohydramnios (HP:0001562) |
Individual 7-1 (MALE; P6Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.455+4A>G (homozygous) | Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hyporeflexia (HP:0001265); Hypotonia (HP:0001252); excluded: Macroglossia (HP:0000158); excluded: Coarse facial features (HP:0000280); excluded: Sloping forehead (HP:0000340); excluded: 11 pairs of ribs (HP:0000878); excluded: Long philtrum (HP:0000343); excluded: Tented upper lip vermilion (HP:0010804); excluded: Upslanted palpebral fissure (HP:0000582); excluded: Epicanthus (HP:0000286); excluded: Mandibular prognathia (HP:0000303); excluded: Long eyelashes (HP:0000527); excluded: Synophrys (HP:0000664); excluded: Broad forehead (HP:0000337); excluded: Wide nasal bridge (HP:0000431); excluded: Bulbous nose (HP:0000414); excluded: Open mouth (HP:0000194); excluded: Thick vermilion border (HP:0012471); excluded: Prominent metopic ridge (HP:0005487); excluded: Hirsutism (HP:0001007); excluded: Microcephaly (HP:0000252); excluded: Macrocephaly (HP:0000256); excluded: Short neck (HP:0000470); excluded: Corneal opacity (HP:0007957); excluded: Scoliosis (HP:0002650); excluded: Hearing impairment (HP:0000365); excluded: Global brain atrophy (HP:0002283); excluded: Periventricular leukomalacia (HP:0006970); excluded: Absent speech (HP:0001344); excluded: Developmental regression (HP:0002376); excluded: Seizure (HP:0001250); excluded: Deeply set eye (HP:0000490); excluded: Decreased fetal movement (HP:0001558); excluded: Oligohydramnios (HP:0001562) |
Individual 8-1 (FEMALE; P12Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.376C>T (homozygous) | Macroglossia (HP:0000158); Coarse facial features (HP:0000280); Macrocephaly (HP:0000256); Scoliosis (HP:0002650); Absent speech (HP:0001344); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hyporeflexia (HP:0001265); Seizure (HP:0001250); Hypotonia (HP:0001252); excluded: Sloping forehead (HP:0000340); excluded: 11 pairs of ribs (HP:0000878); excluded: Long philtrum (HP:0000343); excluded: Tented upper lip vermilion (HP:0010804); excluded: Upslanted palpebral fissure (HP:0000582); excluded: Epicanthus (HP:0000286); excluded: Mandibular prognathia (HP:0000303); excluded: Long eyelashes (HP:0000527); excluded: Synophrys (HP:0000664); excluded: Broad forehead (HP:0000337); excluded: Wide nasal bridge (HP:0000431); excluded: Bulbous nose (HP:0000414); excluded: Open mouth (HP:0000194); excluded: Thick vermilion border (HP:0012471); excluded: Prominent metopic ridge (HP:0005487); excluded: Hirsutism (HP:0001007); excluded: Microcephaly (HP:0000252); excluded: Short neck (HP:0000470); excluded: Corneal opacity (HP:0007957); excluded: Hearing impairment (HP:0000365); excluded: Global brain atrophy (HP:0002283); excluded: Periventricular leukomalacia (HP:0006970); excluded: Developmental regression (HP:0002376); excluded: Deeply set eye (HP:0000490); excluded: Decreased fetal movement (HP:0001558); excluded: Oligohydramnios (HP:0001562) |
Individual 9-1 (FEMALE; P10Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) |
| Prominent metopic ridge (HP:0005487); Absent speech (HP:0001344); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hypotonia (HP:0001252); excluded: Macroglossia (HP:0000158); excluded: Coarse facial features (HP:0000280); excluded: Sloping forehead (HP:0000340); excluded: 11 pairs of ribs (HP:0000878); excluded: Long philtrum (HP:0000343); excluded: Tented upper lip vermilion (HP:0010804); excluded: Upslanted palpebral fissure (HP:0000582); excluded: Epicanthus (HP:0000286); excluded: Mandibular prognathia (HP:0000303); excluded: Long eyelashes (HP:0000527); excluded: Synophrys (HP:0000664); excluded: Broad forehead (HP:0000337); excluded: Wide nasal bridge (HP:0000431); excluded: Bulbous nose (HP:0000414); excluded: Open mouth (HP:0000194); excluded: Thick vermilion border (HP:0012471); excluded: Hirsutism (HP:0001007); excluded: Microcephaly (HP:0000252); excluded: Macrocephaly (HP:0000256); excluded: Short neck (HP:0000470); excluded: Corneal opacity (HP:0007957); excluded: Scoliosis (HP:0002650); excluded: Hearing impairment (HP:0000365); excluded: Global brain atrophy (HP:0002283); excluded: Periventricular leukomalacia (HP:0006970); excluded: Developmental regression (HP:0002376); excluded: Seizure (HP:0001250); excluded: Deeply set eye (HP:0000490) |
Individual 9-2 (MALE; P2Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) |
| Coarse facial features (HP:0000280); 11 pairs of ribs (HP:0000878); Long philtrum (HP:0000343); Tented upper lip vermilion (HP:0010804); Epicanthus (HP:0000286); Hirsutism (HP:0001007); Absent speech (HP:0001344); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hypotonia (HP:0001252); excluded: Macroglossia (HP:0000158); excluded: Sloping forehead (HP:0000340); excluded: Upslanted palpebral fissure (HP:0000582); excluded: Mandibular prognathia (HP:0000303); excluded: Long eyelashes (HP:0000527); excluded: Synophrys (HP:0000664); excluded: Broad forehead (HP:0000337); excluded: Wide nasal bridge (HP:0000431); excluded: Bulbous nose (HP:0000414); excluded: Open mouth (HP:0000194); excluded: Thick vermilion border (HP:0012471); excluded: Prominent metopic ridge (HP:0005487); excluded: Microcephaly (HP:0000252); excluded: Macrocephaly (HP:0000256); excluded: Short neck (HP:0000470); excluded: Corneal opacity (HP:0007957); excluded: Scoliosis (HP:0002650); excluded: Hearing impairment (HP:0000365); excluded: Global brain atrophy (HP:0002283); excluded: Periventricular leukomalacia (HP:0006970); excluded: Developmental regression (HP:0002376); excluded: Seizure (HP:0001250); excluded: Deeply set eye (HP:0000490); excluded: Decreased fetal movement (HP:0001558); excluded: Oligohydramnios (HP:0001562) |
A-II-1 (MALE; P14Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.376C>T (homozygous) | P2Y6M: Seizure (HP:0001250) Macroglossia (HP:0000158); Gingival overgrowth (HP:0000212); Coarse facial features (HP:0000280); Highly arched eyebrow (HP:0002553); Prominent nasal bridge (HP:0000426); Exaggerated cupid's bow (HP:0002263); Anteverted nares (HP:0000463); Narrow forehead (HP:0000341); Global developmental delay (HP:0001263); Developmental regression (HP:0002376); Hyporeflexia (HP:0001265); Hypotonia (HP:0001252); Cerebral visual impairment (HP:0100704); Ptosis (HP:0000508); Cataract (HP:0000518); Respiratory insufficiency (HP:0002093); Tube feeding (HP:0033454); Osteoporosis (HP:0000939); excluded: 11 pairs of ribs (HP:0000878); excluded: Hearing impairment (HP:0000365); excluded: Deeply set eye (HP:0000490); excluded: Esotropia (HP:0000565); excluded: Right aortic arch (HP:0012020) |
B-IV-4 (FEMALE; P4Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1363A>T (homozygous) | P2Y1M: Seizure (HP:0001250) Gingival overgrowth (HP:0000212); Highly arched eyebrow (HP:0002553); Prominent nasal bridge (HP:0000426); Exaggerated cupid's bow (HP:0002263); Anteverted nares (HP:0000463); Narrow forehead (HP:0000341); Global developmental delay (HP:0001263); Developmental regression (HP:0002376); Hyporeflexia (HP:0001265); Deeply set eye (HP:0000490); Hypotonia (HP:0001252); Cerebral visual impairment (HP:0100704); Respiratory insufficiency (HP:0002093); Tube feeding (HP:0033454); Osteoporosis (HP:0000939); excluded: Macroglossia (HP:0000158); excluded: Coarse facial features (HP:0000280); excluded: 11 pairs of ribs (HP:0000878); excluded: Hearing impairment (HP:0000365); excluded: Ptosis (HP:0000508); excluded: Cataract (HP:0000518); excluded: Esotropia (HP:0000565); excluded: Right aortic arch (HP:0012020) |
B-IV-6 (FEMALE; P10Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1363A>T (homozygous) | P6Y: Seizure (HP:0001250) Highly arched eyebrow (HP:0002553); Prominent nasal bridge (HP:0000426); Exaggerated cupid's bow (HP:0002263); Anteverted nares (HP:0000463); Narrow forehead (HP:0000341); Global developmental delay (HP:0001263); Developmental regression (HP:0002376); Deeply set eye (HP:0000490); Hypotonia (HP:0001252); Respiratory insufficiency (HP:0002093); Tube feeding (HP:0033454); Osteoporosis (HP:0000939); excluded: Macroglossia (HP:0000158); excluded: Coarse facial features (HP:0000280); excluded: 11 pairs of ribs (HP:0000878); excluded: Hearing impairment (HP:0000365); excluded: Cerebral visual impairment (HP:0100704); excluded: Ptosis (HP:0000508); excluded: Cataract (HP:0000518); excluded: Esotropia (HP:0000565); excluded: Right aortic arch (HP:0012020) |
C-II-1 (MALE; P2Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1532G>A (homozygous) | Coarse facial features (HP:0000280); 11 pairs of ribs (HP:0000878); Prominent nasal bridge (HP:0000426); Exaggerated cupid's bow (HP:0002263); Anteverted nares (HP:0000463); Narrow forehead (HP:0000341); Global developmental delay (HP:0001263); Hyporeflexia (HP:0001265); Hypotonia (HP:0001252); Esotropia (HP:0000565); Tube feeding (HP:0033454); Right aortic arch (HP:0012020); excluded: Macroglossia (HP:0000158); excluded: Highly arched eyebrow (HP:0002553); excluded: Hearing impairment (HP:0000365); excluded: Developmental regression (HP:0002376); excluded: Seizure (HP:0001250); excluded: Deeply set eye (HP:0000490); excluded: Cerebral visual impairment (HP:0100704); excluded: Ptosis (HP:0000508); excluded: Cataract (HP:0000518); excluded: Respiratory insufficiency (HP:0002093); excluded: Osteoporosis (HP:0000939) |
D-II-1 (MALE; P14Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.376C>T (homozygous) | P1Y3M: Seizure (HP:0001250) Macroglossia (HP:0000158); Coarse facial features (HP:0000280); Highly arched eyebrow (HP:0002553); Prominent nasal bridge (HP:0000426); Exaggerated cupid's bow (HP:0002263); Narrow forehead (HP:0000341); Global developmental delay (HP:0001263); Developmental regression (HP:0002376); Hyporeflexia (HP:0001265); Deeply set eye (HP:0000490); Hypotonia (HP:0001252); Cerebral visual impairment (HP:0100704); Respiratory insufficiency (HP:0002093); Tube feeding (HP:0033454); Osteoporosis (HP:0000939); excluded: Gingival overgrowth (HP:0000212); excluded: 11 pairs of ribs (HP:0000878); excluded: Anteverted nares (HP:0000463); excluded: Hearing impairment (HP:0000365); excluded: Ptosis (HP:0000508); excluded: Cataract (HP:0000518); excluded: Esotropia (HP:0000565); excluded: Right aortic arch (HP:0012020) |
Patient 1 (MALE; P9Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.614_617del (homozygous) | P9M: Seizure (HP:0001250) Brachycephaly (HP:0000248); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hypotonia (HP:0001252); Cerebral visual impairment (HP:0100704); Strabismus (HP:0000486); Proptosis (HP:0000520); Single transverse palmar crease (HP:0000954); Overlapping toe (HP:0001845); excluded: Cerebellar atrophy (HP:0001272) |
Patient 2 (MALE; P16Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.614_617del (homozygous) | P2Y11M: Seizure (HP:0001250) Brachycephaly (HP:0000248); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hypotonia (HP:0001252); Strabismus (HP:0000486); Proptosis (HP:0000520); Single transverse palmar crease (HP:0000954); Overlapping toe (HP:0001845); excluded: Cerebellar atrophy (HP:0001272) |
Patient 3 (FEMALE; P11Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.614_617del (homozygous) | P1Y6M: Seizure (HP:0001250) Brachycephaly (HP:0000248); Cerebellar atrophy (HP:0001272); Global developmental delay (HP:0001263); Hypotonia (HP:0001252); Strabismus (HP:0000486); Proptosis (HP:0000520); Single transverse palmar crease (HP:0000954); Overlapping toe (HP:0001845) |
Patient 1 (FEMALE; P5Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.753dup (homozygous) | P2Y: Seizure (HP:0001250) Long philtrum (HP:0000343); Open mouth (HP:0000194); Brachycephaly (HP:0000248); Absent speech (HP:0001344); Motor delay (HP:0001270); Global developmental delay (HP:0001263); EMG: myokymic discharges (HP:0100288); Deeply set eye (HP:0000490); Hypotonia (HP:0001252); excluded: Narrow forehead (HP:0000341); excluded: Macrocephaly (HP:0000256); excluded: Scoliosis (HP:0002650); excluded: Strabismus (HP:0000486); excluded: Respiratory insufficiency (HP:0002093) |
Patient 2 (FEMALE; P3Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.753dup (homozygous) | Long philtrum (HP:0000343); Open mouth (HP:0000194); Brachycephaly (HP:0000248); Absent speech (HP:0001344); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Deeply set eye (HP:0000490); Hypotonia (HP:0001252); Strabismus (HP:0000486); excluded: Narrow forehead (HP:0000341); excluded: Macrocephaly (HP:0000256); excluded: Scoliosis (HP:0002650); excluded: EMG: myokymic discharges (HP:0100288); excluded: Status epilepticus (HP:0002133); excluded: Respiratory insufficiency (HP:0002093) |
Individual 1-1a (MALE; P5Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1897+1G>A (homozygous) | Sloping forehead (HP:0000340): onset ; Tented upper lip vermilion (HP:0010804): onset ; Upslanted palpebral fissure (HP:0000582): onset ; Bulbous nose (HP:0000414): onset ; Global brain atrophy (HP:0002283): onset ; Delayed speech and language development (HP:0000750): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hyporeflexia (HP:0001265): onset ; Seizure (HP:0001250): onset ; Hypotonia (HP:0001252): onset ; Decreased fetal movement (HP:0001558): onset ; Oligohydramnios (HP:0001562): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Coarse facial features (HP:0000280): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Long philtrum (HP:0000343): onset ; excluded: Epicanthus (HP:0000286): onset ; excluded: Mandibular prognathia (HP:0000303): onset ; excluded: Long eyelashes (HP:0000527): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Broad forehead (HP:0000337): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Open mouth (HP:0000194): onset ; excluded: Thick vermilion border (HP:0012471): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Hirsutism (HP:0001007): onset ; excluded: Microcephaly (HP:0000252): onset ; excluded: Macrocephaly (HP:0000256): onset ; excluded: Short neck (HP:0000470): onset ; excluded: Corneal opacity (HP:0007957): onset ; excluded: Scoliosis (HP:0002650): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Periventricular leukomalacia (HP:0006970): onset ; excluded: Absent speech (HP:0001344): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Deeply set eye (HP:0000490): onset |
Individual 1-2a (FEMALE; P11Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1897+1G>A (homozygous) | Sloping forehead (HP:0000340): onset ; Tented upper lip vermilion (HP:0010804): onset ; Bulbous nose (HP:0000414): onset ; Periventricular leukomalacia (HP:0006970): onset ; Absent speech (HP:0001344): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hyporeflexia (HP:0001265): onset ; Seizure (HP:0001250): onset ; Hypotonia (HP:0001252): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Coarse facial features (HP:0000280): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Long philtrum (HP:0000343): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Epicanthus (HP:0000286): onset ; excluded: Mandibular prognathia (HP:0000303): onset ; excluded: Long eyelashes (HP:0000527): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Broad forehead (HP:0000337): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Open mouth (HP:0000194): onset ; excluded: Thick vermilion border (HP:0012471): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Hirsutism (HP:0001007): onset ; excluded: Microcephaly (HP:0000252): onset ; excluded: Macrocephaly (HP:0000256): onset ; excluded: Short neck (HP:0000470): onset ; excluded: Corneal opacity (HP:0007957): onset ; excluded: Scoliosis (HP:0002650): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Global brain atrophy (HP:0002283): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Deeply set eye (HP:0000490): onset ; excluded: Decreased fetal movement (HP:0001558): onset ; excluded: Oligohydramnios (HP:0001562): onset |
Individual 2-1 (MALE; P5Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.831_832insTA (homozygous) | Macrocephaly (HP:0000256): onset ; Absent speech (HP:0001344): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hyporeflexia (HP:0001265): onset ; Seizure (HP:0001250): onset ; Hypotonia (HP:0001252): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Coarse facial features (HP:0000280): onset ; excluded: Sloping forehead (HP:0000340): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Long philtrum (HP:0000343): onset ; excluded: Tented upper lip vermilion (HP:0010804): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Epicanthus (HP:0000286): onset ; excluded: Mandibular prognathia (HP:0000303): onset ; excluded: Long eyelashes (HP:0000527): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Broad forehead (HP:0000337): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Bulbous nose (HP:0000414): onset ; excluded: Open mouth (HP:0000194): onset ; excluded: Thick vermilion border (HP:0012471): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Hirsutism (HP:0001007): onset ; excluded: Microcephaly (HP:0000252): onset ; excluded: Short neck (HP:0000470): onset ; excluded: Corneal opacity (HP:0007957): onset ; excluded: Scoliosis (HP:0002650): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Global brain atrophy (HP:0002283): onset ; excluded: Periventricular leukomalacia (HP:0006970): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Deeply set eye (HP:0000490): onset ; excluded: Decreased fetal movement (HP:0001558): onset ; excluded: Oligohydramnios (HP:0001562): onset |
Individual 3-1 (MALE; P11Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1652T>C (homozygous) | Epicanthus (HP:0000286): onset ; Wide nasal bridge (HP:0000431): onset ; Scoliosis (HP:0002650): onset ; Delayed speech and language development (HP:0000750): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Deeply set eye (HP:0000490): onset ; Hypotonia (HP:0001252): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Coarse facial features (HP:0000280): onset ; excluded: Sloping forehead (HP:0000340): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Long philtrum (HP:0000343): onset ; excluded: Tented upper lip vermilion (HP:0010804): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Mandibular prognathia (HP:0000303): onset ; excluded: Long eyelashes (HP:0000527): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Broad forehead (HP:0000337): onset ; excluded: Bulbous nose (HP:0000414): onset ; excluded: Open mouth (HP:0000194): onset ; excluded: Thick vermilion border (HP:0012471): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Hirsutism (HP:0001007): onset ; excluded: Microcephaly (HP:0000252): onset ; excluded: Macrocephaly (HP:0000256): onset ; excluded: Short neck (HP:0000470): onset ; excluded: Corneal opacity (HP:0007957): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Global brain atrophy (HP:0002283): onset ; excluded: Periventricular leukomalacia (HP:0006970): onset ; excluded: Absent speech (HP:0001344): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Hyporeflexia (HP:0001265): onset ; excluded: Seizure (HP:0001250): onset ; excluded: Decreased fetal movement (HP:0001558): onset ; excluded: Oligohydramnios (HP:0001562): onset |
Individual 4-1 (FEMALE; P4Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) |
| Macrocephaly (HP:0000256): onset ; Delayed speech and language development (HP:0000750): onset ; Global developmental delay (HP:0001263): onset ; Hyporeflexia (HP:0001265): onset ; Hypotonia (HP:0001252): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Coarse facial features (HP:0000280): onset ; excluded: Sloping forehead (HP:0000340): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Long philtrum (HP:0000343): onset ; excluded: Tented upper lip vermilion (HP:0010804): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Epicanthus (HP:0000286): onset ; excluded: Mandibular prognathia (HP:0000303): onset ; excluded: Long eyelashes (HP:0000527): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Broad forehead (HP:0000337): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Bulbous nose (HP:0000414): onset ; excluded: Open mouth (HP:0000194): onset ; excluded: Thick vermilion border (HP:0012471): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Hirsutism (HP:0001007): onset ; excluded: Microcephaly (HP:0000252): onset ; excluded: Short neck (HP:0000470): onset ; excluded: Corneal opacity (HP:0007957): onset ; excluded: Scoliosis (HP:0002650): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Global brain atrophy (HP:0002283): onset ; excluded: Periventricular leukomalacia (HP:0006970): onset ; excluded: Absent speech (HP:0001344): onset ; excluded: Motor delay (HP:0001270): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Seizure (HP:0001250): onset ; excluded: Deeply set eye (HP:0000490): onset |
Individual 4-2 (FEMALE; P2Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) |
| Global brain atrophy (HP:0002283): onset ; Delayed speech and language development (HP:0000750): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hyporeflexia (HP:0001265): onset ; Hypotonia (HP:0001252): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Coarse facial features (HP:0000280): onset ; excluded: Sloping forehead (HP:0000340): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Long philtrum (HP:0000343): onset ; excluded: Tented upper lip vermilion (HP:0010804): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Epicanthus (HP:0000286): onset ; excluded: Mandibular prognathia (HP:0000303): onset ; excluded: Long eyelashes (HP:0000527): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Broad forehead (HP:0000337): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Bulbous nose (HP:0000414): onset ; excluded: Open mouth (HP:0000194): onset ; excluded: Thick vermilion border (HP:0012471): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Hirsutism (HP:0001007): onset ; excluded: Microcephaly (HP:0000252): onset ; excluded: Macrocephaly (HP:0000256): onset ; excluded: Short neck (HP:0000470): onset ; excluded: Corneal opacity (HP:0007957): onset ; excluded: Scoliosis (HP:0002650): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Periventricular leukomalacia (HP:0006970): onset ; excluded: Absent speech (HP:0001344): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Seizure (HP:0001250): onset ; excluded: Deeply set eye (HP:0000490): onset ; excluded: Decreased fetal movement (HP:0001558): onset ; excluded: Oligohydramnios (HP:0001562): onset |
Individual 5-1 (FEMALE; P10Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.376C>T (homozygous) | Coarse facial features (HP:0000280): onset ; Long eyelashes (HP:0000527): onset ; Synophrys (HP:0000664): onset ; Hirsutism (HP:0001007): onset ; Microcephaly (HP:0000252): onset ; Corneal opacity (HP:0007957): onset ; Scoliosis (HP:0002650): onset ; Absent speech (HP:0001344): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Developmental regression (HP:0002376): onset ; Hyporeflexia (HP:0001265): onset ; Seizure (HP:0001250): onset ; Hypotonia (HP:0001252): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Sloping forehead (HP:0000340): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Long philtrum (HP:0000343): onset ; excluded: Tented upper lip vermilion (HP:0010804): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Epicanthus (HP:0000286): onset ; excluded: Mandibular prognathia (HP:0000303): onset ; excluded: Broad forehead (HP:0000337): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Bulbous nose (HP:0000414): onset ; excluded: Open mouth (HP:0000194): onset ; excluded: Thick vermilion border (HP:0012471): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Macrocephaly (HP:0000256): onset ; excluded: Short neck (HP:0000470): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Global brain atrophy (HP:0002283): onset ; excluded: Periventricular leukomalacia (HP:0006970): onset ; excluded: Deeply set eye (HP:0000490): onset ; excluded: Decreased fetal movement (HP:0001558): onset ; excluded: Oligohydramnios (HP:0001562): onset |
Individual 6-1 (MALE; P12Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1370del (homozygous) | Mandibular prognathia (HP:0000303): onset ; Broad forehead (HP:0000337): onset ; Bulbous nose (HP:0000414): onset ; Open mouth (HP:0000194): onset ; Thick vermilion border (HP:0012471): onset ; Delayed skeletal maturation (HP:0002750): onset ; Hearing impairment (HP:0000365): onset ; Absent speech (HP:0001344): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hypotonia (HP:0001252): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Coarse facial features (HP:0000280): onset ; excluded: Sloping forehead (HP:0000340): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Long philtrum (HP:0000343): onset ; excluded: Tented upper lip vermilion (HP:0010804): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Epicanthus (HP:0000286): onset ; excluded: Long eyelashes (HP:0000527): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Hirsutism (HP:0001007): onset ; excluded: Microcephaly (HP:0000252): onset ; excluded: Macrocephaly (HP:0000256): onset ; excluded: Short neck (HP:0000470): onset ; excluded: Corneal opacity (HP:0007957): onset ; excluded: Scoliosis (HP:0002650): onset ; excluded: Global brain atrophy (HP:0002283): onset ; excluded: Periventricular leukomalacia (HP:0006970): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Hyporeflexia (HP:0001265): onset ; excluded: Seizure (HP:0001250): onset ; excluded: Deeply set eye (HP:0000490): onset ; excluded: Decreased fetal movement (HP:0001558): onset ; excluded: Oligohydramnios (HP:0001562): onset |
Individual 6-2 (FEMALE; P3Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1370del (homozygous) | Broad forehead (HP:0000337): onset ; Macrocephaly (HP:0000256): onset ; Short neck (HP:0000470): onset ; Delayed skeletal maturation (HP:0002750): onset ; Delayed speech and language development (HP:0000750): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hypotonia (HP:0001252): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Coarse facial features (HP:0000280): onset ; excluded: Sloping forehead (HP:0000340): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Long philtrum (HP:0000343): onset ; excluded: Tented upper lip vermilion (HP:0010804): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Epicanthus (HP:0000286): onset ; excluded: Mandibular prognathia (HP:0000303): onset ; excluded: Long eyelashes (HP:0000527): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Bulbous nose (HP:0000414): onset ; excluded: Open mouth (HP:0000194): onset ; excluded: Thick vermilion border (HP:0012471): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Hirsutism (HP:0001007): onset ; excluded: Microcephaly (HP:0000252): onset ; excluded: Corneal opacity (HP:0007957): onset ; excluded: Scoliosis (HP:0002650): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Global brain atrophy (HP:0002283): onset ; excluded: Periventricular leukomalacia (HP:0006970): onset ; excluded: Absent speech (HP:0001344): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Hyporeflexia (HP:0001265): onset ; excluded: Seizure (HP:0001250): onset ; excluded: Deeply set eye (HP:0000490): onset ; excluded: Decreased fetal movement (HP:0001558): onset ; excluded: Oligohydramnios (HP:0001562): onset |
Individual 7-1 (MALE; P6Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.455+4A>G (homozygous) | Delayed speech and language development (HP:0000750): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hyporeflexia (HP:0001265): onset ; Hypotonia (HP:0001252): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Coarse facial features (HP:0000280): onset ; excluded: Sloping forehead (HP:0000340): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Long philtrum (HP:0000343): onset ; excluded: Tented upper lip vermilion (HP:0010804): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Epicanthus (HP:0000286): onset ; excluded: Mandibular prognathia (HP:0000303): onset ; excluded: Long eyelashes (HP:0000527): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Broad forehead (HP:0000337): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Bulbous nose (HP:0000414): onset ; excluded: Open mouth (HP:0000194): onset ; excluded: Thick vermilion border (HP:0012471): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Hirsutism (HP:0001007): onset ; excluded: Microcephaly (HP:0000252): onset ; excluded: Macrocephaly (HP:0000256): onset ; excluded: Short neck (HP:0000470): onset ; excluded: Corneal opacity (HP:0007957): onset ; excluded: Scoliosis (HP:0002650): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Global brain atrophy (HP:0002283): onset ; excluded: Periventricular leukomalacia (HP:0006970): onset ; excluded: Absent speech (HP:0001344): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Seizure (HP:0001250): onset ; excluded: Deeply set eye (HP:0000490): onset ; excluded: Decreased fetal movement (HP:0001558): onset ; excluded: Oligohydramnios (HP:0001562): onset |
Individual 8-1 (FEMALE; P12Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.376C>T (homozygous) | Macroglossia (HP:0000158): onset ; Coarse facial features (HP:0000280): onset ; Macrocephaly (HP:0000256): onset ; Scoliosis (HP:0002650): onset ; Absent speech (HP:0001344): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hyporeflexia (HP:0001265): onset ; Seizure (HP:0001250): onset ; Hypotonia (HP:0001252): onset ; excluded: Sloping forehead (HP:0000340): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Long philtrum (HP:0000343): onset ; excluded: Tented upper lip vermilion (HP:0010804): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Epicanthus (HP:0000286): onset ; excluded: Mandibular prognathia (HP:0000303): onset ; excluded: Long eyelashes (HP:0000527): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Broad forehead (HP:0000337): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Bulbous nose (HP:0000414): onset ; excluded: Open mouth (HP:0000194): onset ; excluded: Thick vermilion border (HP:0012471): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Hirsutism (HP:0001007): onset ; excluded: Microcephaly (HP:0000252): onset ; excluded: Short neck (HP:0000470): onset ; excluded: Corneal opacity (HP:0007957): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Global brain atrophy (HP:0002283): onset ; excluded: Periventricular leukomalacia (HP:0006970): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Deeply set eye (HP:0000490): onset ; excluded: Decreased fetal movement (HP:0001558): onset ; excluded: Oligohydramnios (HP:0001562): onset |
Individual 9-1 (FEMALE; P10Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) |
| Prominent metopic ridge (HP:0005487): onset ; Absent speech (HP:0001344): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hypotonia (HP:0001252): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Coarse facial features (HP:0000280): onset ; excluded: Sloping forehead (HP:0000340): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Long philtrum (HP:0000343): onset ; excluded: Tented upper lip vermilion (HP:0010804): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Epicanthus (HP:0000286): onset ; excluded: Mandibular prognathia (HP:0000303): onset ; excluded: Long eyelashes (HP:0000527): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Broad forehead (HP:0000337): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Bulbous nose (HP:0000414): onset ; excluded: Open mouth (HP:0000194): onset ; excluded: Thick vermilion border (HP:0012471): onset ; excluded: Hirsutism (HP:0001007): onset ; excluded: Microcephaly (HP:0000252): onset ; excluded: Macrocephaly (HP:0000256): onset ; excluded: Short neck (HP:0000470): onset ; excluded: Corneal opacity (HP:0007957): onset ; excluded: Scoliosis (HP:0002650): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Global brain atrophy (HP:0002283): onset ; excluded: Periventricular leukomalacia (HP:0006970): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Seizure (HP:0001250): onset ; excluded: Deeply set eye (HP:0000490): onset |
Individual 9-2 (MALE; P2Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) |
| Coarse facial features (HP:0000280): onset ; 11 pairs of ribs (HP:0000878): onset ; Long philtrum (HP:0000343): onset ; Tented upper lip vermilion (HP:0010804): onset ; Epicanthus (HP:0000286): onset ; Hirsutism (HP:0001007): onset ; Absent speech (HP:0001344): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hypotonia (HP:0001252): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Sloping forehead (HP:0000340): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Mandibular prognathia (HP:0000303): onset ; excluded: Long eyelashes (HP:0000527): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Broad forehead (HP:0000337): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Bulbous nose (HP:0000414): onset ; excluded: Open mouth (HP:0000194): onset ; excluded: Thick vermilion border (HP:0012471): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Microcephaly (HP:0000252): onset ; excluded: Macrocephaly (HP:0000256): onset ; excluded: Short neck (HP:0000470): onset ; excluded: Corneal opacity (HP:0007957): onset ; excluded: Scoliosis (HP:0002650): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Global brain atrophy (HP:0002283): onset ; excluded: Periventricular leukomalacia (HP:0006970): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Seizure (HP:0001250): onset ; excluded: Deeply set eye (HP:0000490): onset ; excluded: Decreased fetal movement (HP:0001558): onset ; excluded: Oligohydramnios (HP:0001562): onset |
A-II-1 (MALE; P14Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.376C>T (homozygous) | Macroglossia (HP:0000158): onset ; Gingival overgrowth (HP:0000212): onset ; Coarse facial features (HP:0000280): onset ; Highly arched eyebrow (HP:0002553): onset ; Prominent nasal bridge (HP:0000426): onset ; Exaggerated cupid's bow (HP:0002263): onset ; Anteverted nares (HP:0000463): onset ; Narrow forehead (HP:0000341): onset ; Global developmental delay (HP:0001263): onset ; Developmental regression (HP:0002376): onset ; Hyporeflexia (HP:0001265): onset ; Hypotonia (HP:0001252): onset ; Cerebral visual impairment (HP:0100704): onset ; Ptosis (HP:0000508): onset ; Cataract (HP:0000518): onset ; Respiratory insufficiency (HP:0002093): onset ; Tube feeding (HP:0033454): onset ; Osteoporosis (HP:0000939): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Deeply set eye (HP:0000490): onset ; excluded: Esotropia (HP:0000565): onset ; excluded: Right aortic arch (HP:0012020): onset TimeElement(element=Age(iso8601duration=P2Y6M)): Seizure (HP:0001250): onset age {\n", + " iso8601duration: \"P2Y6M\"\n", + "}\n", + " |
B-IV-4 (FEMALE; P4Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1363A>T (homozygous) | Gingival overgrowth (HP:0000212): onset ; Highly arched eyebrow (HP:0002553): onset ; Prominent nasal bridge (HP:0000426): onset ; Exaggerated cupid's bow (HP:0002263): onset ; Anteverted nares (HP:0000463): onset ; Narrow forehead (HP:0000341): onset ; Global developmental delay (HP:0001263): onset ; Developmental regression (HP:0002376): onset ; Hyporeflexia (HP:0001265): onset ; Deeply set eye (HP:0000490): onset ; Hypotonia (HP:0001252): onset ; Cerebral visual impairment (HP:0100704): onset ; Respiratory insufficiency (HP:0002093): onset ; Tube feeding (HP:0033454): onset ; Osteoporosis (HP:0000939): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Coarse facial features (HP:0000280): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Ptosis (HP:0000508): onset ; excluded: Cataract (HP:0000518): onset ; excluded: Esotropia (HP:0000565): onset ; excluded: Right aortic arch (HP:0012020): onset TimeElement(element=Age(iso8601duration=P2Y1M)): Seizure (HP:0001250): onset age {\n", + " iso8601duration: \"P2Y1M\"\n", + "}\n", + " |
B-IV-6 (FEMALE; P10Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1363A>T (homozygous) | Highly arched eyebrow (HP:0002553): onset ; Prominent nasal bridge (HP:0000426): onset ; Exaggerated cupid's bow (HP:0002263): onset ; Anteverted nares (HP:0000463): onset ; Narrow forehead (HP:0000341): onset ; Global developmental delay (HP:0001263): onset ; Developmental regression (HP:0002376): onset ; Deeply set eye (HP:0000490): onset ; Hypotonia (HP:0001252): onset ; Respiratory insufficiency (HP:0002093): onset ; Tube feeding (HP:0033454): onset ; Osteoporosis (HP:0000939): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Coarse facial features (HP:0000280): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Cerebral visual impairment (HP:0100704): onset ; excluded: Ptosis (HP:0000508): onset ; excluded: Cataract (HP:0000518): onset ; excluded: Esotropia (HP:0000565): onset ; excluded: Right aortic arch (HP:0012020): onset TimeElement(element=Age(iso8601duration=P6Y)): Seizure (HP:0001250): onset age {\n", + " iso8601duration: \"P6Y\"\n", + "}\n", + " |
C-II-1 (MALE; P2Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.1532G>A (homozygous) | Coarse facial features (HP:0000280): onset ; 11 pairs of ribs (HP:0000878): onset ; Prominent nasal bridge (HP:0000426): onset ; Exaggerated cupid's bow (HP:0002263): onset ; Anteverted nares (HP:0000463): onset ; Narrow forehead (HP:0000341): onset ; Global developmental delay (HP:0001263): onset ; Hyporeflexia (HP:0001265): onset ; Hypotonia (HP:0001252): onset ; Esotropia (HP:0000565): onset ; Tube feeding (HP:0033454): onset ; Right aortic arch (HP:0012020): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Highly arched eyebrow (HP:0002553): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Seizure (HP:0001250): onset ; excluded: Deeply set eye (HP:0000490): onset ; excluded: Cerebral visual impairment (HP:0100704): onset ; excluded: Ptosis (HP:0000508): onset ; excluded: Cataract (HP:0000518): onset ; excluded: Respiratory insufficiency (HP:0002093): onset ; excluded: Osteoporosis (HP:0000939): onset |
D-II-1 (MALE; P14Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.376C>T (homozygous) | Macroglossia (HP:0000158): onset ; Coarse facial features (HP:0000280): onset ; Highly arched eyebrow (HP:0002553): onset ; Prominent nasal bridge (HP:0000426): onset ; Exaggerated cupid's bow (HP:0002263): onset ; Narrow forehead (HP:0000341): onset ; Global developmental delay (HP:0001263): onset ; Developmental regression (HP:0002376): onset ; Hyporeflexia (HP:0001265): onset ; Deeply set eye (HP:0000490): onset ; Hypotonia (HP:0001252): onset ; Cerebral visual impairment (HP:0100704): onset ; Respiratory insufficiency (HP:0002093): onset ; Tube feeding (HP:0033454): onset ; Osteoporosis (HP:0000939): onset ; excluded: Gingival overgrowth (HP:0000212): onset ; excluded: 11 pairs of ribs (HP:0000878): onset ; excluded: Anteverted nares (HP:0000463): onset ; excluded: Hearing impairment (HP:0000365): onset ; excluded: Ptosis (HP:0000508): onset ; excluded: Cataract (HP:0000518): onset ; excluded: Esotropia (HP:0000565): onset ; excluded: Right aortic arch (HP:0012020): onset TimeElement(element=Age(iso8601duration=P1Y3M)): Seizure (HP:0001250): onset age {\n", + " iso8601duration: \"P1Y3M\"\n", + "}\n", + " |
Patient 1 (MALE; P9Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.614_617del (homozygous) | Brachycephaly (HP:0000248): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hypotonia (HP:0001252): onset ; Cerebral visual impairment (HP:0100704): onset ; Strabismus (HP:0000486): onset ; Proptosis (HP:0000520): onset ; Single transverse palmar crease (HP:0000954): onset ; Overlapping toe (HP:0001845): onset ; excluded: Cerebellar atrophy (HP:0001272): onset TimeElement(element=Age(iso8601duration=P9M)): Seizure (HP:0001250): onset age {\n", + " iso8601duration: \"P9M\"\n", + "}\n", + " |
Patient 2 (MALE; P16Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.614_617del (homozygous) | Brachycephaly (HP:0000248): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hypotonia (HP:0001252): onset ; Strabismus (HP:0000486): onset ; Proptosis (HP:0000520): onset ; Single transverse palmar crease (HP:0000954): onset ; Overlapping toe (HP:0001845): onset ; excluded: Cerebellar atrophy (HP:0001272): onset TimeElement(element=Age(iso8601duration=P2Y11M)): Seizure (HP:0001250): onset age {\n", + " iso8601duration: \"P2Y11M\"\n", + "}\n", + " |
Patient 3 (FEMALE; P11Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.614_617del (homozygous) | Brachycephaly (HP:0000248): onset ; Cerebellar atrophy (HP:0001272): onset ; Global developmental delay (HP:0001263): onset ; Hypotonia (HP:0001252): onset ; Strabismus (HP:0000486): onset ; Proptosis (HP:0000520): onset ; Single transverse palmar crease (HP:0000954): onset ; Overlapping toe (HP:0001845): onset TimeElement(element=Age(iso8601duration=P1Y6M)): Seizure (HP:0001250): onset age {\n", + " iso8601duration: \"P1Y6M\"\n", + "}\n", + " |
Patient 1 (FEMALE; P5Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.753dup (homozygous) | Long philtrum (HP:0000343): onset ; Open mouth (HP:0000194): onset ; Brachycephaly (HP:0000248): onset ; Absent speech (HP:0001344): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; EMG: myokymic discharges (HP:0100288): onset ; Deeply set eye (HP:0000490): onset ; Hypotonia (HP:0001252): onset ; excluded: Narrow forehead (HP:0000341): onset ; excluded: Macrocephaly (HP:0000256): onset ; excluded: Scoliosis (HP:0002650): onset ; excluded: Strabismus (HP:0000486): onset ; excluded: Respiratory insufficiency (HP:0002093): onset TimeElement(element=Age(iso8601duration=P2Y)): Seizure (HP:0001250): onset age {\n", + " iso8601duration: \"P2Y\"\n", + "}\n", + " |
Patient 2 (FEMALE; P3Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.753dup (homozygous) | Long philtrum (HP:0000343): onset ; Open mouth (HP:0000194): onset ; Brachycephaly (HP:0000248): onset ; Absent speech (HP:0001344): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Deeply set eye (HP:0000490): onset ; Hypotonia (HP:0001252): onset ; Strabismus (HP:0000486): onset ; excluded: Narrow forehead (HP:0000341): onset ; excluded: Macrocephaly (HP:0000256): onset ; excluded: Scoliosis (HP:0002650): onset ; excluded: EMG: myokymic discharges (HP:0100288): onset ; excluded: Status epilepticus (HP:0002133): onset ; excluded: Respiratory insufficiency (HP:0002093): onset |
patient (MALE; P1Y3M) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.247C>T (homozygous) | Macroglossia (HP:0000158): onset ; Coarse facial features (HP:0000280): onset ; Tented upper lip vermilion (HP:0010804): onset ; Highly arched eyebrow (HP:0002553): onset ; Hypertelorism (HP:0000316): onset ; Exaggerated cupid's bow (HP:0002263): onset ; Open mouth (HP:0000194): onset ; Delayed speech and language development (HP:0000750): onset ; Motor delay (HP:0001270): onset ; Hyporeflexia (HP:0001265): onset ; Cryptorchidism (HP:0000028): onset ; Pectus excavatum (HP:0000767): onset ; excluded: Gingival overgrowth (HP:0000212): onset ; excluded: Sloping forehead (HP:0000340): onset ; excluded: Long philtrum (HP:0000343): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Epicanthus (HP:0000286): onset ; excluded: Mandibular prognathia (HP:0000303): onset ; excluded: Long eyelashes (HP:0000527): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Broad forehead (HP:0000337): onset ; excluded: Prominent nasal bridge (HP:0000426): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Anteverted nares (HP:0000463): onset ; excluded: Bulbous nose (HP:0000414): onset ; excluded: Thick vermilion border (HP:0012471): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Hirsutism (HP:0001007): onset ; excluded: Cerebellar atrophy (HP:0001272): onset ; excluded: Periventricular leukomalacia (HP:0006970): onset ; excluded: Seizure (HP:0001250): onset ; excluded: Deeply set eye (HP:0000490): onset TimeElement(element=OntologyClass(id=HP:0003577, label=Congenital onset)): Macrocephaly (HP:0000256): onset ontology_class {\n", + " id: \"HP:0003577\"\n", + " label: \"Congenital onset\"\n", + "}\n", + " TimeElement(element=OntologyClass(id=HP:0003623, label=Neonatal onset)): Hypotonia (HP:0001252): onset ontology_class {\n", + " id: \"HP:0003623\"\n", + " label: \"Neonatal onset\"\n", + "}\n", + " TimeElement(element=Age(iso8601duration=P5M)): Global brain atrophy (HP:0002283): onset age {\n", + " iso8601duration: \"P5M\"\n", + "}\n", + " |
Individual P1 (FEMALE; P13Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.535_554del (homozygous) | Hirsutism (HP:0001007): onset ; Tapered finger (HP:0001182): onset ; Scoliosis (HP:0002650): onset ; Joint contracture (HP:0034392): onset ; Thin corpus callosum (HP:0033725): onset ; Ventriculomegaly (HP:0002119): onset ; Enlarged cisterna magna (HP:0002280): onset ; Absent speech (HP:0001344): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hyporeflexia (HP:0001265): onset ; Increased variability in muscle fiber diameter (HP:0003557): onset ; Mildly elevated creatine kinase (HP:0008180): onset ; Limb muscle weakness (HP:0003690): onset ; Axial muscle weakness (HP:0003327): onset ; excluded: Cerebellar atrophy (HP:0001272): onset ; excluded: Global brain atrophy (HP:0002283): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Status epilepticus (HP:0002133): onset TimeElement(element=OntologyClass(id=HP:0003623, label=Neonatal onset)): Hypotonia (HP:0001252): onset ontology_class {\n", + " id: \"HP:0003623\"\n", + " label: \"Neonatal onset\"\n", + "}\n", + " TimeElement(element=Age(iso8601duration=P1Y4M)): Macrocephaly (HP:0000256): onset age {\n", + " iso8601duration: \"P1Y4M\"\n", + "}\n", + "; Bilateral tonic-clonic seizure with focal onset (HP:0007334): onset age {\n", + " iso8601duration: \"P1Y4M\"\n", + "}\n", + " |
Individual P2 (FEMALE; P8Y) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.535_554del (homozygous) | Thin corpus callosum (HP:0033725): onset ; Ventriculomegaly (HP:0002119): onset ; Absent speech (HP:0001344): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hyporeflexia (HP:0001265): onset ; Increased variability in muscle fiber diameter (HP:0003557): onset ; Limb muscle weakness (HP:0003690): onset ; Axial muscle weakness (HP:0003327): onset ; Hypotonia (HP:0001252): onset ; excluded: Hirsutism (HP:0001007): onset ; excluded: Tapered finger (HP:0001182): onset ; excluded: Scoliosis (HP:0002650): onset ; excluded: Joint contracture (HP:0034392): onset ; excluded: Cerebellar atrophy (HP:0001272): onset ; excluded: Global brain atrophy (HP:0002283): onset ; excluded: Developmental regression (HP:0002376): onset ; excluded: Status epilepticus (HP:0002133): onset TimeElement(element=OntologyClass(id=HP:0003623, label=Neonatal onset)): Mildly elevated creatine kinase (HP:0008180): onset ontology_class {\n", + " id: \"HP:0003623\"\n", + " label: \"Neonatal onset\"\n", + "}\n", + " TimeElement(element=Age(iso8601duration=P9M)): Bilateral tonic-clonic seizure with focal onset (HP:0007334): onset age {\n", + " iso8601duration: \"P9M\"\n", + "}\n", + " |
patient (FEMALE; P6Y6M) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (OMIM:616900) | NM_001163435.3:c.490C>T (homozygous) | Thick vermilion border (HP:0012471): onset ; Narrow forehead (HP:0000341): onset ; Periventricular leukomalacia (HP:0006970): onset ; Absent speech (HP:0001344): onset ; Motor delay (HP:0001270): onset ; Global developmental delay (HP:0001263): onset ; Hyporeflexia (HP:0001265): onset ; Hypotonia (HP:0001252): onset ; Feeding difficulties (HP:0011968): onset ; excluded: Macroglossia (HP:0000158): onset ; excluded: Gingival overgrowth (HP:0000212): onset ; excluded: Coarse facial features (HP:0000280): onset ; excluded: Sloping forehead (HP:0000340): onset ; excluded: Tented upper lip vermilion (HP:0010804): onset ; excluded: Upslanted palpebral fissure (HP:0000582): onset ; excluded: Epicanthus (HP:0000286): onset ; excluded: Hypertelorism (HP:0000316): onset ; excluded: Synophrys (HP:0000664): onset ; excluded: Prominent nasal bridge (HP:0000426): onset ; excluded: Wide nasal bridge (HP:0000431): onset ; excluded: Exaggerated cupid's bow (HP:0002263): onset ; excluded: Anteverted nares (HP:0000463): onset ; excluded: Bulbous nose (HP:0000414): onset ; excluded: Prominent metopic ridge (HP:0005487): onset ; excluded: Brachycephaly (HP:0000248): onset |
\n", + " | #diseaseID | \n", + "diseaseName | \n", + "phenotypeID | \n", + "phenotypeName | \n", + "onsetID | \n", + "onsetName | \n", + "frequency | \n", + "sex | \n", + "negation | \n", + "modifier | \n", + "description | \n", + "publication | \n", + "evidence | \n", + "biocuration | \n", + "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
0 | \n", + "OMIM:616900 | \n", + "Hypotonia, infantile, with psychomotor retarda... | \n", + "HP:0000256 | \n", + "Macrocephaly | \n", + "\n", + " | \n", + " | 4/13 | \n", + "\n", + " | \n", + " | \n", + " | \n", + " | PMID:27040691 | \n", + "PCS | \n", + "ORCID:0000-0002-0736-9199[2024-10-04] | \n", + "
1 | \n", + "OMIM:616900 | \n", + "Hypotonia, infantile, with psychomotor retarda... | \n", + "HP:0001344 | \n", + "Absent speech | \n", + "\n", + " | \n", + " | 7/13 | \n", + "\n", + " | \n", + " | \n", + " | \n", + " | PMID:27040691 | \n", + "PCS | \n", + "ORCID:0000-0002-0736-9199[2024-10-04] | \n", + "
2 | \n", + "OMIM:616900 | \n", + "Hypotonia, infantile, with psychomotor retarda... | \n", + "HP:0001270 | \n", + "Motor delay | \n", + "\n", + " | \n", + " | 12/13 | \n", + "\n", + " | \n", + " | \n", + " | \n", + " | PMID:27040691 | \n", + "PCS | \n", + "ORCID:0000-0002-0736-9199[2024-10-04] | \n", + "
3 | \n", + "OMIM:616900 | \n", + "Hypotonia, infantile, with psychomotor retarda... | \n", + "HP:0001263 | \n", + "Global developmental delay | \n", + "\n", + " | \n", + " | 13/13 | \n", + "\n", + " | \n", + " | \n", + " | \n", + " | PMID:27040691 | \n", + "PCS | \n", + "ORCID:0000-0002-0736-9199[2024-10-04] | \n", + "
4 | \n", + "OMIM:616900 | \n", + "Hypotonia, infantile, with psychomotor retarda... | \n", + "HP:0001265 | \n", + "Hyporeflexia | \n", + "\n", + " | \n", + " | 8/11 | \n", + "\n", + " | \n", + " | \n", + " | \n", + " | PMID:27040691 | \n", + "PCS | \n", + "ORCID:0000-0002-0736-9199[2024-10-04] | \n", + "