(Q50349695)
English
autosomal recessive cutis laxa type IID
autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13
- ARCL2D
- CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D
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