Term Name:	neurodevelopmental disorder with ataxia and brain abnormalities
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.
Ontology:	Human Disease [DOID:0070808]   ( DOID:0070808 )