Disease #00763 (PDHAD (pyruvate dehydrogenase E1-alpha deficiency (PDHAD, Leigh syndrome, X-linked)), OMIM:312170)
| Official abbreviation |
PDHAD |
| Name |
pyruvate dehydrogenase E1-alpha deficiency (PDHAD, Leigh syndrome, X-linked) |
| OMIM ID |
312170 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Inheritance |
- |
| Individuals reported having this disease |
- |
| Phenotype entries for this disease |
- |
| Associated with 1 gene |
PDHA1 |
| Associated tissues |
- |
| Disease features |
- |
| Remarks |
- |
| Date created |
2014-09-25 23:29:40 +02:00 (CEST) |
| Date last edited |
N/A |
|
