PNPLA8 - patatin like phospholipase domain containing 8 Gene

Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome

MMLA

Metabolic Myopathy Associated With Chronic Lactic Acidemia, Growth Failure, And Nerve Deafness

Mitochondrial Myopathy-Lactic Acidosis-Hearing Loss Syndrome

Myopathy, Mitochondrial, With Lactic Acidosis

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Acidosis, Lactic

Acidosis Lactic

PARK14

Dystonia-Parkinsonism, Adult-Onset

Autosomal Recessive Parkinson Disease 14

Parkinson'S Disease 14

Dystonia-Parkinsonism Adult-Onset

Adult-Onset Dystonia-Parkinsonism

Dystonia-Parkinsonism, Paisan-Ruiz Type

Pla2g6-Related Dystonia-Parkinsonism

Parkinson Disease 14

Autosomal Recessive Parkinson'S Disease 14

Nbia/Dyt/Park-Pla2g6

Dystonia-Parkinsonism Paisan-Ruiz Type

Parkinson Disease 14 Autosomal Recessive

Parkinson Disease, Type 14

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

Muscular Diseases

Myopathies

Infantile Neuroaxonal Dystrophy

Plan

Seitelberger Disease

Inad

Infantile Neuroaxonal Dystrophy 1

Inad1

Pla2g6-Associated Neurodegeneration

NBIA2A

Neuroaxonal Dystrophy, Infantile

Neurodegeneration, Pla2g6-Associated

Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related

Phospholipase A2-Associated Neurodegeneration

Nbia2

Pla2g6-Related Disorders

Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy

Karak Syndrome, Included

Nbia2b

Neuroaxonal Dystrophy, Atypical

Neurodegeneration With Brain Iron Accumulation 2b

Nbia, Pla2g6-Related

Seitelberger'S Disease

Neurodegeneration Pla2g6-Associated

Dystrophy, Neuroaxonal, Infantile

Neurodegeneration, With Brain Iron Accumulation, Type 2a

Neuroaxonal Dystrophies

Neurodegeneration With Brain Iron Accumulation 2

Neuroaxonal Dystrophies

Cerebellar Ataxia And Hypogonadotropic Hypogonadism

Lhrh Deficiency And Ataxia

Cerebellar Ataxia-Hypogonadism Syndrome

GDHS

Cahh

Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia

Gordon-Holmes Syndrome

Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia

Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia

Cerebellar Ataxia - Hypogonadism

Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia

Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism

Neutral Lipid Storage Disease

CDS

Neutral Lipid Storage Disease With Ichthyosis

Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation

Triglyceride Storage Disease With Ichthyosis

Nlsdi

Ichthyotic Neutral Lipid Storage Disease

Dorfman-Chanarin Syndrome

Dcs

Chanarin-Dorfman Disease

Ichthyosiform Erythroderma With Leukocyte Vacuolation

Lipidosis With Triglyceride Storage Disease

Disorder Of Cornification 12

Dorfman Chanarin Syndrome

Neutral Lipid Storage Disease With Ichthyotic

Dorfman-Chanarin Disease

Wss

Weaver-Smith Syndrome

WVS

Weaver-Like Syndrome

Weaver-Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies Syndrome

Camptodactyly - Overgrowth - Unusual Facies

Ezh2 Related Overgrowth

Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

Weaver Smith Syndrome

Weaver Like Syndrome

Weaver Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies

Weaver Syndrome 1

Weaver Syndrome 2

Wvs1

Wvs2