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Microcephalic primordial dwarfism, Alazami type
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
1 OMIM reference -
1 associated gene
No signs/symptoms info
Microcephalic primordial dwarfism, Alazami type
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism

LARP7
(UniProt - OMIM)
 BRCC3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LARP7
(0.63)
BRCC3


Citations in the biomedical literature:


Microcephalic primordial dwarfism, Alazami type
LARP7
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
BRCC3



Microcephalic primordial dwarfism, Alazami type
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism

Synonym(s):
(no synonyms)

Synonym(s):
- Syndromic Moyamoya disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.