GENETIC ENCYCLOPEDIA
ABOUT US    

   

disease: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome

id5409
namePartial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
variant-disease NM_001753.5(CAV1):c.400del (p.Ile134fs) AND Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer) AND Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
NM_001753.5(CAV1):c.424C>T (p.Gln142Ter) AND Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome