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rhizomelic chondrodysplasia punctate type 4
Summary
- Definition
- A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.
- Super Class
- rhizomelic chondrodysplasia punctata
External Links
- Disease Ontology
- DOID:0081243
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000343 | Long philtrum |
| HP:0001285 | Spastic tetraparesis |
| HP:0000280 | Coarse facial features |
| HP:0002376 | Developmental regression |
| HP:0001257 | Spasticity |
| HP:0002187 | Intellectual disability, profound |
| HP:0006855 | Cerebellar vermis atrophy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002188 | Delayed CNS myelination |
| HP:0000252 | Microcephaly |
