TARS2 - threonyl-tRNA synthetase 2, mitochondrial Gene

COXPD21

Combined Oxidative Phosphorylation Defect Type 21

Combined Oxidative Phosphorylation Deficiency, Type 21

MLASA2

Myopathy With Lactic Acidosis And Sideroblastic Anemia 2

Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2

As Syndrome

Anti-Jo1 Syndrome

COXPD12

Ltbl

Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate

Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome

Combined Oxidative Phosphorylation Defect Type 12

Combined Oxidative Phosphorylation Deficiency, Type 12

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Spax

Ataxia, Spastic