Disease #05819 (NEDESBA (neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA)), OMIM:618741)
| Official abbreviation |
NEDESBA |
| Name |
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA) |
| OMIM ID |
618741 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Inheritance |
Autosomal recessive |
| Individuals reported having this disease |
- |
| Phenotype entries for this disease |
- |
| Associated with 1 gene |
TRAPPC4 |
| Associated tissues |
- |
| Disease features |
- |
| Remarks |
- |
| Date created |
2020-08-25 10:25:28 +02:00 (CEST) |
| Date last edited |
N/A |
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