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Syndactyly type 3

1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1

Severe congenital nemaline myopathy

4 associated genes
No signs/symptoms info

Syndactyly type 3

Severe congenital nemaline myopathy

GJA1	(UniProt - OMIM)		ACTA1	(UniProt - OMIM)
			KLHL40	(UniProt - OMIM)
			KLHL41	(UniProt - OMIM)
			NEB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GJA1	(0.63)	ACTA1

Citations in the biomedical literature:

Syndactyly type 3		Severe congenital nemaline myopathy
	Synonym(s): - SD3 - Syndactyly of fingers 4 and 5		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538154		External references: No OMIM references No MeSH references

Syndactyly type 3
	Very frequent - Autosomal dominant inheritance - Syndactyly of fingers / interdigital palm Frequent - Camptodactyly of some fingers Occasional - Short foot / brachydactyly of toes
Severe congenital nemaline myopathy
(no data available)