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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:0001476 | Delayed closure of the anterior fontanelle |
| HP:0000463 | Anteverted nares |
| HP:0001257 | Spasticity |
| HP:0000023 | Inguinal hernia |
| HP:0000670 | Carious teeth |
| HP:0001302 | Pachygyria |
| HP:0000316 | Hypertelorism |
| HP:0001374 | Congenital hip dislocation |
| HP:0000455 | Broad nasal tip |
| HP:0001250 | Seizure |
