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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:0000973 | Cutis laxa |
| HP:0000369 | Low-set ears |
| HP:0001339 | Lissencephaly |
| HP:0000272 | Malar flattening |
| HP:0001270 | Motor delay |
| HP:0001511 | Intrauterine growth retardation |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000218 | High palate |
| HP:0000726 | Dementia |
| HP:0001305 | Dandy-Walker malformation |
