Term Name: autosomal recessive cutis laxa type IIIB
Synonyms: ARCL3B, De Barsy syndrome B
Definition: An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.
Ontology: Human Disease [DOID:0070138]   ( DOID:0070138 )

Relationships
is a type of: autosomal recessive cutis laxa type III