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MIRAGE
autosomal recessive cutis laxa type IIC
Summary
- Definition
- An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.
- Super Class
- autosomal recessive cutis laxa type II classic type
External Links
- Disease Ontology
- DOID:0070140
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P36543 | V-type proton ATPase subunit E 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001302 | Pachygyria |
| HP:0001305 | Dandy-Walker malformation |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001339 | Lissencephaly |
| HP:0001374 | Congenital hip dislocation |
| HP:0001476 | Delayed closure of the anterior fontanelle |
| HP:0001508 | Failure to thrive |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001582 | Redundant skin |
| HP:0002097 | Emphysema |
