autosomal recessive cutis laxa type IIIB

Term ID

DOID:0070138

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. https://www.ncbi.nlm.nih.gov/pubmed/19648921

References

• ICD10CM:Q82.8
• MIM:614438

Ontology

Human Disease   ( DOID:0070138 )