Cataract - hypertrichosis - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CATARACT, HYPERTRICHOSIS, MENTAL RETARDATION SYNDROME CAHMR syndrome |
| Number of Symptoms | 13 |
| OrphanetNr: | 1375 |
| OMIM Id: |
211770
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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: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Hypertrichosis -Rare genetic disease -Rare skin disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndromic cataract -Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000691) | Microdontia | Very frequent [Orphanet] | 104 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0002162) | Low posterior hairline | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0007971) | Lamellar cataract | 6 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0000767) | Pectus excavatum | Very frequent [Orphanet] | 244 / 7739 | |||
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(HPO:0004554) | Generalized hypertrichosis | 30 / 7739 | ||||
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(HPO:0011362) | Abnormal hair quantity | Very frequent [Orphanet] | 92 / 7739 | |||
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(OMIM) | Generalized hypertrichosis, back, shoulders, and face | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 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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