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