Human genes for autosomal recessive cutis laxa type IIIA
Autosomal recessive cutis laxa type IIIA [DOID:0070132]
A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.
Synonyms: autosomal recessive cutis laxa type IIIA, autosomal recessive cutis laxa type IIIAs, DOID:0070132, ARCL3A, De Barsy syndrome A ...