ODCs

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

PROTEIN INTERACTIONS: 1

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

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Lissencephaly due to LIS1 mutation


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BICD2	(0.63)	PAFAH1B1

Citations in the biomedical literature:

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures		Lissencephaly due to LIS1 mutation
	Synonym(s): - Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures - SMALED2		Synonym(s): - PAFAH1B1-associated lissencephaly

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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

No signs/symptoms info available.