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X-linked intellectual deficit with isolated growth hormone deficiency
1 OMIM reference -
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
46,XX testicular disorder of sex development
Panhypopituitarism
Septo-optic dysplasia
X-linked congenital generalized hypertrichosis
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
Peters anomaly
WAGR syndrome
Synonym(s):
- MRGH
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SOX3 P41225313430
No signs/symptoms info available.