Term Name: | autosomal recessive cutis laxa type IIB |
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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 ) |