Metadata | |
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ID | DOID:0070129 |
Name | autosomal recessive cutis laxa type IID |
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. https://www.ncbi.nlm.nih.gov/pubmed/28065471 |
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Synonyms |
ARCL2D [EXACT] |
Parent Relationships |