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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:0001508 | Failure to thrive |
| HP:0000750 | Delayed speech and language development |
| HP:0000343 | Long philtrum |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0000253 | Progressive microcephaly |
| HP:0000486 | Strabismus |
| HP:0001263 | Global developmental delay |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001252 | Hypotonia |
| HP:0000260 | Wide anterior fontanel |
