cutis laxa, autosomal recessive, type IIA - CISMeF
Cutis laxa, autosomal recessive, type IIAMeSH Supplementary Concept
Preferred Label : cutis laxa, autosomal recessive, type IIA;
MeSH note : PROM mutation in ATP6V0A2 gene;
MeSH synonym : cutis laxa with bone dystrophy; cutis laxa, debre type; cutis laxa with joint laxity and retarded development; cutis laxa with or without congenital disorder of glycosylation; ARCL2A; cutis laxa with growth and developmental delay;