Intellectual deficit - microcephaly - phalangeal - facial abnormalities
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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10
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OrphanetNr:
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3067
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OMIM Id:
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease
Rare intellectual deficit with developmental anomaly
-Rare neurologic disease
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1
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(HPO:0000163)
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Abnormality of the oral cavity |
Very frequent [Orphanet]
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37 / 7739
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2
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(HPO:0000252)
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Microcephaly |
Very frequent [Orphanet]
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832 / 7739
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3
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(HPO:0004374)
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Hemiplegia/hemiparesis |
Very frequent [Orphanet]
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158 / 7739
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4
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(HPO:0002558)
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Supernumerary nipple |
Occasional [Orphanet]
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40 / 7739
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5
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(HPO:0009811)
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Abnormality of the elbow |
Very frequent [Orphanet]
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30 / 7739
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6
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(HPO:0009466)
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Radial deviation of finger |
Frequent [Orphanet]
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101 / 7739
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7
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(HPO:0004322)
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Short stature |
Very frequent [Orphanet]
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1232 / 7739
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8
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(HPO:0004760)
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Congenital septal defect |
Occasional [Orphanet]
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69 / 7739
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9
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(HPO:0012795)
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Abnormality of the optic disc |
Frequent [Orphanet]
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187 / 7739
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10
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |