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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:0001508 | Failure to thrive |
| HP:0000750 | Delayed speech and language development |
| HP:0000343 | Long philtrum |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0000253 | Progressive microcephaly |
| HP:0001263 | Global developmental delay |
| HP:0000486 | Strabismus |
| HP:0006891 | Thick cerebral cortex |
| HP:0002465 | Poor speech |
| HP:0010989 | Abnormality of the intrinsic pathway |
