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autosomal recessive cutis laxa type IID
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive cutis laxa type II classic type
External Links
- Disease Ontology
- DOID:0070129
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P38606 | V-type proton ATPase catalytic subunit A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004970 | Ascending tubular aorta aneurysm |
| HP:0008689 | Bilateral cryptorchidism |
| HP:0009933 | Narrow naris |
| HP:0010954 | Hypoplastic right heart |
| HP:0011712 | Right bundle branch block |
| HP:0012385 | Camptodactyly |
