VARS2 - valyl-tRNA synthetase 2, mitochondrial Gene

COXPD20

Combined Oxidative Phosphorylation Defect Type 20

Oxidative Phosphorylation Deficiency, Combined, Type 20

NDMSCA

Neurodevelopmental Disorder With Microcephaly, Seizures, Cortical Atrophy

COXPD23

Combined Oxidative Phosphorylation Defect Type 23

Oxidative Phosphorylation Deficiency, Combined, Type 23

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

COXPD24

Combined Oxidative Phosphorylation Defect Type 24

Oxidative Phosphorylation Deficiency, Combined, Type 24

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

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

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

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

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Spax

Ataxia, Spastic

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