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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
5 associated genes
No signs/symptoms info
Congenital lethal myopathy, Compton-North type
Combined pituitary hormone deficiencies, genetic forms

CNTN1 GLI2
HESX1
OTX2
POU1F1
PROP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CNTN1
(0.63)
PROP1



Citations in the biomedical literature:


Congenital lethal myopathy, Compton-North type
CNTN1
Combined pituitary hormone deficiencies, genetic forms
GLI2 HESX1 OTX2 POU1F1 PROP1



Congenital lethal myopathy, Compton-North type
Combined pituitary hormone deficiencies, genetic forms

Synonym(s):
(no synonyms)

Synonym(s):
- Familial congenital hypopituitarism
- Multiple pituitary hormone deficiencies, genetic forms

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility

Classification (ICD10):
- Diseases of the nervous system -
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: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
4 OMIM references -
No MeSH references

No signs/symptoms info available.