Neurologic Disorders

CMA

Acyl-CoA Dehydrogenase Deficiency

Adrenoleukodystrophy

Amyotrophic Lateral Sclerosis (ALS)

Autism Spectrum Disorders

BBB Syndrome

Benign familial infantile epilepsy

CADASIL

CHARGE Syndrome

Cerebral Cavernous Malformations

Congenital Myopathy

Disorders of Fatty Acid Oxidation

Distal Hereditary Myopathy

Dystonia

Dystrophinopathies

Epilepsy

Episodic ataxia

Familial Hemiplegic Migraine 1

Fragile X Syndrome

Frontotemporal Dementia

GM1 Gangliodisosis

Gaucher Disease

Glutaric Acidemia

Glycine encephalopathy (aka: nonketotic hyperglycinemia)

Greig Cephalopolysyndactyly Syndrome

Hemiplegic Migraine

Hereditary Spastic Paraplegia

Huntington Disease

Hyperammonemia

Hypothyroidism

Infantile convulsions with choreoathetosis

Intellectual Disability

Joubert Syndrome

Kallmann Syndrome

Krabbe Disease (Globoid Cell Leukodystrophy)

L1 Syndrome

Leukodystrophy

Leukoencephalopathy

Lipid Storage Disorders

Metachromatic Leukodystrophy

Mitochondrial Disorders

Morquio Type B

Mucopolysaccharidosis

Mucopolysaccharidosis Type IVB

Multiple Carboxylase Deficiency

Muscular Dystrophy

Myopathy

Nephronophthisis

Neuroaxonal Dystrophy

Neurodegeneration

Neurofibromatosis

Neuromuscular Dystrophy

Opitz G

Optic Atrophy

Organic Acidurias

Pallister-Hall Syndrome

Paroxysmal kinesigenic choreoathetosis

Paroxysmal kinesigenic dyskinesia

Paroxysmal torticollis

Peroxisomal Disorders

Polydactyly

Prader-Willi Syndrome

Premature Ovarian Failure (POF1)

Rett Syndrome, Angelman Syndrome and Variant Syndromes

Sensorineural Hearing Loss

Spastic Paraplegia

Tay-Sachs Disease (GM2 Gangliosidosis Type 1)

Tuberous Sclerosis

Walker-Warburg Syndrome

Wolfram Syndrome

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