Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 18 |
| OrphanetNr: | 94066 |
| OMIM Id: |
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| ICD-10: |
Q87.8 |
| 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:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0002553) | Highly arched eyebrow | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0011800) | Midface retrusion | Frequent [Orphanet] | 221 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000303) | Mandibular prognathia | Frequent [Orphanet] | 179 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0002714) | Downturned corners of mouth | Very frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0001357) | Plagiocephaly | Frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000322) | Short philtrum | Frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0011305) | Partial absence of toe | Frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0009882) | Short distal phalanx of finger | Frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0002023) | Anal atresia | Frequent [Orphanet] | 135 / 7739 | |||
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(HPO:0001545) | Anteriorly placed anus | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001800) | Hypoplastic toenails | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | Frequent [Orphanet] | 316 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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