DISEASES

Disease-gene associations mined from literature

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 ...