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Short stature - pituitary and cerebellar defects - small sella turcica
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Pituitary stalk interruption syndrome
Jeune syndrome
Saldino-Mainzer syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2G
Familial isolated dilated cardiomyopathy
Synovial sarcoma
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LHX4 Q969G2602146
No signs/symptoms info available.