Term Name: autosomal recessive cutis laxa type IIB
Synonyms: ARCL2, progeroid type, ARCL2B
Definition: A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.
Ontology: Human Disease [DOID:0070137]   ( DOID:0070137 )

Relationships
is a type of: autosomal recessive disease cutis laxa