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Congenital myopathy, Paradas type

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 2

Digitotalar dysmorphism

3 OMIM references -
5 associated genes
10 signs/symptoms

Congenital myopathy, Paradas type

Digitotalar dysmorphism

DYSF	(UniProt - OMIM)		MYBPC1	(UniProt - OMIM)
			MYH3	(UniProt - OMIM)
			TNNI2	(UniProt - OMIM)
			TNNT3	(UniProt - OMIM)
			TPM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DYSF DYSF	(0.63) (0.63)	MYBPC1 MYH3

Citations in the biomedical literature:

Congenital myopathy, Paradas type		Digitotalar dysmorphism
	Synonym(s): (no synonyms)		Synonym(s): - DA1 - DA1A - Distal arthrogryposis type 1

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 3 OMIM references - No MeSH references

Digitotalar dysmorphism
	Very frequent - Autosomal dominant inheritance - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Clinodactyly of fingers 1,2,3,4 / overlapping fingers Frequent - Camptodactyly of fingers - Restricted joint mobility / joint stiffness / ankylosis - Talipes-varus / metatarsal varus - Ulnar deviation of fingers Occasional - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Microstomia / little mouth - Pes talus
Congenital myopathy, Paradas type
(no data available)