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Childhood-onset nemaline myopathy

6 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Syndactyly type 3

1 OMIM reference -
1 associated gene
4 signs/symptoms

Childhood-onset nemaline myopathy

Syndactyly type 3

ACTA1	(UniProt - OMIM)		GJA1	(UniProt - OMIM)
KBTBD13	(UniProt - OMIM)
KLHL41	(UniProt - OMIM)
NEB	(UniProt - OMIM)
TPM2	(UniProt - OMIM)
TPM3	(UniProt - OMIM)


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

Citations in the biomedical literature:

Childhood-onset nemaline myopathy		Syndactyly type 3
	Synonym(s): - Mild nemaline myopathy		Synonym(s): - SD3 - Syndactyly of fingers 4 and 5

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

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

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