VARS1 - valyl-tRNA synthetase 1 Gene

NDMSCA

Neurodevelopmental Disorder With Microcephaly, Seizures, Cortical Atrophy

COXPD20

Combined Oxidative Phosphorylation Defect Type 20

Oxidative Phosphorylation Deficiency, Combined, Type 20

COXPD2

Combined Oxidative Phosphorylation Defect Type 2

Agenesis Of Corpus Callosum With Dysmorphism And Fatal Lactic Acidosis

Corpus Callosum, Agenesis Of, With Dysmorphism And Fatal Lactic Acidosis

Combined Oxidative Phosphorylation Deficiency, Type 2

COXPD23

Combined Oxidative Phosphorylation Defect Type 23

Oxidative Phosphorylation Deficiency, Combined, Type 23

COXPD24

Combined Oxidative Phosphorylation Defect Type 24

Oxidative Phosphorylation Deficiency, Combined, Type 24

CMT2U

Charcot-Marie-Tooth Disease Axonal Type 2u

Charcot-Marie-Tooth Neuropathy, Type 2u

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u

Charcot-Marie-Tooth Neuropathy Type 2u

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Mars Mutation

Charcot-Marie-Tooth Disease 2u

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Congenital Neurologic Anomaly

Congenital Nervous System Disorder