Human genes for autosomal recessive cutis laxa type IIIB
Autosomal recessive cutis laxa type IIIB [DOID:0070138]
An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.
Synonyms: autosomal recessive cutis laxa type IIIB, autosomal recessive cutis laxa type IIIBs, DOID:0070138, ARCL3B, De Barsy syndrome B ...