Cataract - deafness - hypogonadism
General Information (adopted from Orphanet):
Synonyms, Signs: |
Schaap-Taylor-Baraitser syndrome |
Number of Symptoms | 18 |
OrphanetNr: | 1383 |
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: | No data available. |
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 Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000325) | Triangular face | Frequent [Orphanet] | 91 / 7739 | |||
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(HPO:0000168) | Abnormality of the gingiva | Frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0000574) | Thick eyebrow | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000592) | Blue sclerae | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0001172) | Abnormality of the thumb | Frequent [Orphanet] | 103 / 7739 | |||
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(HPO:0010055) | Broad hallux | Frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0000954) | Single transverse palmar crease | Frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0001382) | Joint hypermobility | Frequent [Orphanet] | 231 / 7739 | |||
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000958) | Dry skin | Frequent [Orphanet] | 152 / 7739 | |||
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(HPO:0011362) | Abnormal hair quantity | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000964) | Eczema | Frequent [Orphanet] | 81 / 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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