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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:0001511 | Intrauterine growth retardation |
| HP:0004322 | Short stature |
| HP:0008897 | Postnatal growth retardation |
| HP:0002187 | Intellectual disability, profound |
| HP:0011003 | High myopia |
| HP:0002761 | Generalized joint hypermobility |
| HP:0007392 | Excessive wrinkled skin |
| HP:0100874 | Thick hair |
| HP:0005989 | Redundant neck skin |
| HP:0002361 | Psychomotor deterioration |
