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D-bifunctional protein deficiency
Summary
- Definition
- A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.
- Super Class
- peroxisomal disease
External Links
- Disease Ontology
- DOID:0090031
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000348 | High forehead |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000486 | Strabismus |
| HP:0000550 | Undetectable electroretinogram |
| HP:0000572 | Visual loss |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000639 | Nystagmus |
