ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
4 signs/symptoms

Autosomal recessive limb-girdle muscular dystrophy type 2J

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome


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

Citations in the biomedical literature:

Autosomal recessive limb-girdle muscular dystrophy type 2J		Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
	Synonym(s): - LGMD2J		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: (no data available)		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 limb-girdle muscular dystrophy type 2J
(no data available)