Term Name: | autosomal recessive cutis laxa type IIC |
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Synonyms: | |
Definition: | An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. |
Ontology: | Human Disease [DOID:0070140] ( DOID:0070140 ) |