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

Canavan disease

Cancer

Central Core

Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy

Cerebral Palsy

Charcot Marie Tooth and related hereditary neuropathies

Childhood Myocerebrohepatopathy spectrum

Congenital Disorders of Glycosylation

Corticobasal Degeneration

Creatine Disorders

Creatine Transporter Defect, also known as SLC 6A8

Creutzfeldt-Jakob Disease

CTE (Chronic Traumatic Encephalopathy)

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