Term Name:	autosomal recessive cutis laxa type IIC
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 )