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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:0003623 | Neonatal onset |
| HP:0005257 | Thoracic hypoplasia |
| HP:0005280 | Depressed nasal bridge |
| HP:0006872 | Cerebral hypoplasia |
| HP:0007266 | Cerebral dysmyelination |
| HP:0007371 | Corpus callosum atrophy |
| HP:0008167 | Very long chain fatty acid accumulation |
| HP:0008207 | Primary adrenal insufficiency |
| HP:0008872 | Feeding difficulties in infancy |
