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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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000973 | Cutis laxa |
| HP:0000369 | Low-set ears |
| HP:0001339 | Lissencephaly |
| HP:0000272 | Malar flattening |
| HP:0001270 | Motor delay |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000218 | High palate |
| HP:0000726 | Dementia |
| HP:0001305 | Dandy-Walker malformation |
| HP:0000319 | Smooth philtrum |
