ODCs

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4 OMIM references -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
1 associated gene
No signs/symptoms info

Pontocerebellar hypoplasia type 2

Distal myopathy, Nonaka type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSEN34	(0.63)	GNE

Citations in the biomedical literature:

Pontocerebellar hypoplasia type 2		Distal myopathy, Nonaka type
	Synonym(s): - PCH2		Synonym(s): - Distal myopathy with rimmed vacuoles - HIBM2 - Hereditary inclusion body myopathy type 2 - IBM2 - Inclusion body myopathy type 2 - Nonaka myopathy - Quadriceps-sparing myopathy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - 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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal recessive

	External references: 4 OMIM references - 1 MeSH reference: C548070		External references: 2 OMIM references - 1 MeSH reference: C536816

No signs/symptoms info available.