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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:0011003 | High myopia |
| HP:0002187 | Intellectual disability, profound |
| HP:0008897 | Postnatal growth retardation |
| HP:0004322 | Short stature |
| HP:0002097 | Emphysema |
| HP:0005989 | Redundant neck skin |
| HP:0009125 | Lipodystrophy |
| HP:0002361 | Psychomotor deterioration |
| HP:0100874 | Thick hair |
| HP:0003196 | Short nose |
