has material basis in germline mutation in ATP6V1A autosomal recessive cutis laxa type 2, classic type autosomal recessive cutis laxa type 2 autosomal recessive cutis laxa type 2D https://www.malacards.org/card/cutis_laxa_autosomal_recessive_type_iid UMLS:C4479409 ARCL2D DOID:0070129 OMIM:617403 MONDO:0027451 An 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. GARD:0025498 MEDGEN:1376619