Cataract - deafness - hypogonadism

General Information (adopted from Orphanet):

Synonyms, Signs: Schaap-Taylor-Baraitser syndrome
Number of Symptoms 18
OrphanetNr: 1383
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

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: Sort by abundance 

1
(HPO:0000325) Triangular face Frequent [Orphanet] 91 / 7739
2
(HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
3
(HPO:0000574) Thick eyebrow Frequent [Orphanet] 96 / 7739
4
(HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
5
(HPO:0000592) Blue sclerae Frequent [Orphanet] 85 / 7739
6
(HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
7
(HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
8
(HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
9
(HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
10
(HPO:0010055) Broad hallux Frequent [Orphanet] 56 / 7739
11
(HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
12
(HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
13
(HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
14
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
15
(HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
16
(HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
17
(HPO:0000964) Eczema Frequent [Orphanet] 81 / 7739
18
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: