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autosomal recessive cutis laxa type IIA
Summary
- Synonym
-
- ARCL2A
- Definition
- An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
- Super Class
- autosomal recessive cutis laxa type II classic type
External Links
- Disease Ontology
- DOID:0070134
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002187 | Intellectual disability, profound |
| HP:0002208 | Coarse hair |
| HP:0002361 | Psychomotor deterioration |
| HP:0002465 | Poor speech |
| HP:0002761 | Generalized joint hypermobility |
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
| HP:0003196 | Short nose |
| HP:0003199 | Decreased muscle mass |
| HP:0004322 | Short stature |
| HP:0005272 | Prominent nasolabial fold |
