autosomal recessive cutis laxa type IIB

Term ID

DOID:0070137

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. https://www.ncbi.nlm.nih.gov/pubmed/19576563

References

• ICD10CM:Q82.8
• OMIM:612940
• ORDO:357064

Ontology

Human Disease   ( DOID:0070137 )