| Metadata | |
|---|---|
| ID | DOID:0070736 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070736 Copy |
| Name | multiple mitochondrial dysfunctions syndrome 9B |
| Definition | A multiple mitochondrial dysfunctions syndrome characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25. https://pubmed.ncbi.nlm.nih.gov/37046037/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1222655009 |
| SKOS |
exactMatch ORDO:543470 exactMatch GARD:0027208 exactMatch MIM:620887 |
| Subsets |
DO_rare_slim |
| Synonyms |
MMDS9B [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |