FARS2 - phenylalanyl-tRNA synthetase 2, mitochondrial Gene

COXPD14

Combined Oxidative Phosphorylation Defect Type 14

Oxidative Phosphorylation Deficiency, Combined, Type 14

SPG77

Hereditary Spastic Paraplegia 77

Autosomal Recessive Spastic Paraplegia 77

Autosomal Recessive Spastic Paraplegia Type 77

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

6p Subtelomeric Deletion Syndrome

6p25 Microdeletion Syndrome

Distal Monosomy 6p

Distal Deletion 6p

Monosomy 6p25

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

DFNB94

Autosomal Recessive Nonsyndromic Deafness 94

Autosomal Recessive Deafness 94

Deafness, Autosomal Recessive, 94

NPHS2

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1

Nephrotic Syndrome Type 2

Steroid-Resistant Autosomal Recessive Nephrotic Syndrome

Nephrotic Syndrome 2

Autosomal Recessive Steroid-Resistant Nephrotic Syndrome

Srn

Nephrotic Syndrome, Type 2, Susceptibility To

Idiopathic Nephrotic Syndrome

Alpers Syndrome

Alpers-Huttenlocher Syndrome

Alpers Progressive Infantile Poliodystrophy

Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

Alpers Disease

Progressive Sclerosing Poliodystrophy

Pndc

Diffuse Cerebral Sclerosis Of Schilder

MTDPS4A

Neuronal Degeneration Of Childhood With Liver Disease, Progressive

Alper'S Syndrome

Alpers' Disease Or Gray-Matter Degeneration

Diffuse Cerebral Degeneration In Infancy

Infantile Poliodystrophy

Poliodystrophia Cerebri Progressiva

Progressive Cerebral Poliodystrophy

Alpers' Disease

Alpers Progressive Sclerosing Poliodystrophy

Progressive Neuronal Degeneration Of Childhood With Liver Disease

Ahs

Mitochondrial Dna Depletion Syndrome 4a Alpers Type

Neuronal Degeneration Of Childhood With Liver Disease Progressive

Acidosis, Lactic

Acidosis Lactic

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

Mtdna Depletion Syndrome

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia

Spax

Ataxia, Spastic

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia