Disease #07010 (CONRIBA (neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities), OMIM:619173)
Official abbreviation |
CONRIBA |
Name |
neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities |
OMIM ID |
619173 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal dominant |
Individuals reported having this disease |
1 |
Phenotype entries for this disease |
1 |
Associated with 1 gene |
CLCN6 |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
Date created |
2023-04-14 13:15:07 +02:00 (CEST) |
Date last edited |
N/A |
Individuals
|