Pili torti - developmental delay - neurological abnormalities
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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11
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OrphanetNr:
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2891
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OMIM Id:
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261990
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ICD-10:
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UMLs:
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C1849811
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MeSH:
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C537398
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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
[Omim]
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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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Syndromic hair shaft abnormality
-Rare genetic disease
-Rare skin disease
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1
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(HPO:0200102)
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Sparse or absent eyelashes |
Very frequent [Orphanet]
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64 / 7739
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2
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(HPO:0100840)
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Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
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117 / 7739
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3
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(HPO:0001288)
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Gait disturbance |
Frequent [Orphanet]
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318 / 7739
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4
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(HPO:0002066)
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Gait ataxia |
Very frequent [Orphanet]
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327 / 7739
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5
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(HPO:0001263)
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Global developmental delay |
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853 / 7739
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6
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(HPO:0001382)
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Joint hypermobility |
Very frequent [Orphanet]
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231 / 7739
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7
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(HPO:0004325)
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Decreased body weight |
Very frequent [Orphanet]
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492 / 7739
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8
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(HPO:0003777)
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Pili torti |
Very frequent [Orphanet]
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24 / 7739
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9
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(HPO:0010719)
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Abnormality of hair texture |
Very frequent [Orphanet]
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24 / 7739
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10
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(HPO:0001252)
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Muscular hypotonia |
Frequent [Orphanet]
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990 / 7739
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11
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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 |