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
• Crohn's 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 Sayres 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