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Short stature - pituitary and cerebellar defects - small sella turcica
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal recessive limb-girdle muscular dystrophy type 2G
1 OMIM reference -
1 associated gene
No signs/symptoms info
Short stature - pituitary and cerebellar defects - small sella turcica
Autosomal recessive limb-girdle muscular dystrophy type 2G

LHX4
(UniProt - OMIM)
 TCAP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LHX4
(0.63)
TCAP


Citations in the biomedical literature:


Short stature - pituitary and cerebellar defects - small sella turcica
LHX4
Autosomal recessive limb-girdle muscular dystrophy type 2G
TCAP



Short stature - pituitary and cerebellar defects - small sella turcica
Autosomal recessive limb-girdle muscular dystrophy type 2G

Synonym(s):
(no synonyms)

Synonym(s):
- LGMD2G
- Limb girdle muscular dystrophy due to telethonin deficiency
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -
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
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.