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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:0002126 | Polymicrogyria |
| HP:0008070 | Sparse hair |
| HP:0003199 | Decreased muscle mass |
| HP:0001582 | Redundant skin |
| HP:0005272 | Prominent nasolabial fold |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0002208 | Coarse hair |
| HP:0011968 | Feeding difficulties |
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
| HP:0007457 | Prominent veins on trunk |
