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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Autosomal recessive centronuclear myopathy
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

BIN1 POMP
TTN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TTN
(0.63)
POMP



Citations in the biomedical literature:


Autosomal recessive centronuclear myopathy
BIN1 TTN
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
POMP



Autosomal recessive centronuclear myopathy
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

Synonym(s):
- AR-CNM

Synonym(s):
- KLICK syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

Very frequent
- Autosomal dominant inheritance
- Ichthyosis / ichthyosiform dermatitis
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Joint / articular deformation



Autosomal recessive centronuclear myopathy

(no data available)