ODCs

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

PROTEIN INTERACTIONS: 1

5 OMIM references -
3 associated genes
No signs/symptoms info

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Periventricular nodular heterotopia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DYNC1H1	(0.63)	FLNA

Citations in the biomedical literature:

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures		Periventricular nodular heterotopia
	Synonym(s): - Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures - SMALED1		Synonym(s): (no synonyms)

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: adult Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 5 OMIM references - 1 MeSH reference: D054091

No signs/symptoms info available.