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

Lissencephaly due to LIS1 mutation

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAFAH1B1	(0.87)	DYNC1H1

Citations in the biomedical literature:

Lissencephaly due to LIS1 mutation		Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
	Synonym(s): - PAFAH1B1-associated lissencephaly		Synonym(s): - Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures - SMALED1

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: adult Type of inheritance: autosomal dominant

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

No signs/symptoms info available.