Disease #07045 (NEDHFBA (neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities), OMIM:619383)
| Official abbreviation |
NEDHFBA |
| Name |
neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| OMIM ID |
619383 |
| Human Phenotype Ontology Project (HPO) |
HPO |
| Inheritance |
Autosomal recessive |
| Individuals reported having this disease |
- |
| Phenotype entries for this disease |
- |
| Associated with 1 gene |
PPP1R21 |
| Associated tissues |
- |
| Disease features |
- |
| Remarks |
- |
| Date created |
2023-11-16 11:57:56 +01:00 (CET) |
| Date last edited |
N/A |
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