Term Name: | autosomal recessive cutis laxa type IID |
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Synonyms: | ARCL2D |
Definition: | An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. |
Ontology: | Human Disease [DOID:0070129] ( DOID:0070129 ) |