Trichodermal syndrome - intellectual deficit
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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3360
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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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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0005988)
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Congenital muscular torticollis |
Very frequent [Orphanet]
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11 / 7739
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2
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(HPO:0000158)
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Macroglossia |
Very frequent [Orphanet]
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119 / 7739
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3
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(HPO:0000639)
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Nystagmus |
Very frequent [Orphanet]
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555 / 7739
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4
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(HPO:0000508)
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Ptosis |
Very frequent [Orphanet]
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459 / 7739
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5
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(HPO:0002299)
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Brittle hair |
Very frequent [Orphanet]
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52 / 7739
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6
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(HPO:0005599)
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Hypopigmentation of hair |
Very frequent [Orphanet]
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38 / 7739
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7
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(HPO:0001006)
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Hypotrichosis |
Very frequent [Orphanet]
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219 / 7739
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8
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(HPO:0010720)
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Abnormal hair pattern |
Very frequent [Orphanet]
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14 / 7739
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9
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(HPO:0002213)
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Fine hair |
Very frequent [Orphanet]
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77 / 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 |