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disease: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome

id5409
namePartial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
variant-disease NM_001753.4(CAV1):c.400delA (p.Ile134Leufs) AND Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
NM_001753.4(CAV1):c.479_480delTT (p.Phe160Terfs) AND Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
NM_001753.4(CAV1):c.424C>T (p.Gln142Ter) AND Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome