3-hydroxy-3-methylglutaryl-CoA lyase deficiency

5-aminoimidazole-4-carboxamide ribonucleotide transformylase deficiency

A

Adenylosuccinate synthase Deficiency

Alexander disease

Alpers-Huttenlocher syndrome

ALS (Amyotrophic Lateral Sclerosis)

Alzheimer's Disease and other dementias

Amyloidoses

Argyrophilic Grain Disease

Aromatic L-amino acid decarboxylase deficiency

Asparylglucosaminuria

Ataxia neuropathy spectrum

Autism and other spectrum disorders

B

Bidirectional enzyme deficiency

Biopterin Defects

C

Bidirectional enzyme deficiency

Biopterin Defects

D

Dementia with Lewy Bodies

Deoxyguanisine kinase deficiency

Dihydropirimidinase Deficiency

Dihydropteridine reductase

Dihydropyrimidine dehydrogenase Deficiency

Duchenne Muscular Dystrophy

E

Epilepsy

F

Facioscapulohumeral Muscular Dystrophy

Familial or Sporadic Fatal Insomnia

Familial Spastic Paraplegia

Farber Disease

Fatty Acid Oxidation

Freidreich’s Ataxia

Frontotemporal dementia and parkinsonism linked to chromosome 17 caused by mutations in MAPT gene

Frontotemporal Lobar Degeneration

G

Galactosemia

Galactosialidosis

Gaucher Type 2 and Type 3

Gerstmann-Straussler-Scheinker Disease

Globular Glial Tauopathy

Glutaric acidemia type 1

Glycine encephalopathy, also known as non-ketotic hyperglycinemia

Glycogen Storage-Lysosomal: Pompe Disease

GM1 gangliosidosis

GM2 gangliosidosis also known as Tay-sachs and Sandhoff Disease

Guanidinoacetate methytransferase deficiency

Guanosine triphosphate cyclohydrolase deficiency

H

Homocysteine re-methylation defects

Huntington's Disease

Hypoxanthine-guanine phosophoribosyltransferase Deficiency also known as Lesch-Nyhan disease

K

Kearn Sayers Syndrome

Krabbe

Kuru

L

L-2-hydroxyglutaric aciduria

L-Arginine/glycine amidinotransferase deficiency

Leukodystrophy

Lewy Body Disorders

Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency

Lysosomal Storage Diseases

M

Mannosidosis

Manosidosis alpha and beta

Maple Syrup Urine Disease

Metachromatic leukodystrophy

Metal Metabolism

Methylenetetrahydrofolate reductase deficiency severe variant

Mitochondrial Conditions

Mitochondrial Depletion syndromes types 1 through 14

Mitochondrial Encephalopathy Lactic Acidosis Stroke

Mitochondrial Encephalopathy Ragged Red Fiber

Mitochondrial neurogastrointestinal encephalopathy

Monoamine oxidase deficiency

Motor Neuron Disease

MS (Multiple Sclerosis)

Mucolipidoses

Mucolipidoses Type II, also known as Inclusion Cell disease

Mucolipidoses Type III, also known as pseudo-Hurler polydystrophy

Mucopolysaccaridosis

Mucopolysaccharidosis Type I, also known as Hurler Syndrome or Scheie Syndrome

Mucopolysaccharidosis Type II, also known as Hunter Syndrome

Mucopolysaccharidosis Type III, also known as Sanfilippo A and B

Mucopolysaccharidosis Type IV, also known as Maroteaux-Lamy

Mucopolysaccharidosis Type VII, also known as Sly

Multiple Sulfatase deficiency

Multiple System Atrophy

Muscular Dystrophies

Myoclonic epilepsy myopathy sensory ataxia

N

Neimann Pick Type A and B

Neimann Pick Type C

Neonatal Adrenoleukodystrophy

Neurodegeneration with brain iron accumulation

Neurofibrillary Tangle dementia, also known as Primary Age-related Tauopathy

Neuronal ceroid lipofuscinosis types 1-10 including Batten Disease

Neuropathy, Ataxia, and Retinitis Pigmentosa

Neurotransmitter defects

O

Oligosaccharidoses

P

Pantothenate Kinase Associated Neurodegeneration

Parkinson's Disease

Pelizaeus-Merzbacher disease

Peripheral Neuropathies

Peripheral neuropathy types 1 through 4

Peroxisomal biosynthesis defects

Peroxisomal Disorders

Pick Disease

Polymerase G Related Disorders

Polyol disorders

Primary Lateral Sclerosis

Prion Diseases

Progressive Choreas

Progressive dystonias DYT genes 1 through 20

Progressive Muscular Atrophy

Progressive Supranuclear Palsy

Pterin-4-carbinolamine dehydratase

PTSD

Purine and Pyrimidine Defects

Pyruvate Carboxylase Deficiency

Pyruvate Dehydrogenase Deficiency

Pyruvoyl-tetahydropterin synthas

R

Refsum Disease

Respiratory chain disorders complex 1 through 4 defects: Co Q biosynthesis defects

RRM2B-related mitochondrial disease

S

Salidosis

Schindler

Segawa Diease, also known as Dopamine Responsive Dystonia

Sepiapterin reductase

Sialidosis

Spasticity

Sphingolipidoses

Spinal Muscular Atrophy

Spinal-bulbar muscular atrophy

Spinocerebellar ataxia

Subacute necrotizing encephalopathy, also known as Leigh syndrome

SUCLG1-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Synucleinopathies

T

Tauopathies

Thymidine Kinase

Transactive response DNA-binding protein-43 (TDP-43) Proteinopathies

Trifunctional protein deficiency

V

Vascular dementia

W

Wilson Disease

X

X-linked adrenoleukodystrophy

Z

Zellweger syndrome