ODCs

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3 OMIM references -
5 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 2

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

Digitotalar dysmorphism

Autosomal recessive limb-girdle muscular dystrophy type 2B


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

Citations in the biomedical literature:

Digitotalar dysmorphism		Autosomal recessive limb-girdle muscular dystrophy type 2B
	Synonym(s): - DA1 - DA1A - Distal arthrogryposis type 1		Synonym(s): - LGMD2B - Limb-girdle muscular dystrophy due to dysferlin deficiency

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal recessive

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 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
Autosomal recessive limb-girdle muscular dystrophy type 2B
(no data available)