Search Ontology:
Human Disease

neurodevelopmental disorder with ataxia and brain abnormalities

Term ID
DOID:0070808
Synonyms
  • NEDAXBA
Definition
A mitochondrial metabolism disease characterized by developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy, and bulbar dysfunction with neonatal/infantile onset that has_material_basis_in homozygous mutation in the PTPMT1 gene on chromosome 11p11. https://pubmed.ncbi.nlm.nih.gov/39279645/
References
Ontology
Human Disease   ( DOID:0070808 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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