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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:0001250 | Seizure |
| 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:0001263 | Global developmental delay |
| HP:0000486 | Strabismus |
| HP:0007392 | Excessive wrinkled skin |
| HP:0002761 | Generalized joint hypermobility |
