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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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001631 | Atrial septal defect |
| HP:0001635 | Congestive heart failure |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001762 | Talipes equinovarus |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002107 | Pneumothorax |
| HP:0002171 | Gliosis |
| HP:0002751 | Kyphoscoliosis |
| HP:0002827 | Hip dislocation |
| HP:0003758 | Reduced subcutaneous adipose tissue |
