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autosomal recessive cutis laxa type 2D

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
Uniprot Description A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement.
Disease Ontology Description An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
Mondo Term and Equivalent IDs
MONDO:0027451:  autosomal recessive cutis laxa type 2D