Disease

Alexander Disease

Amyloidosis

Anti-drug Antibody

Ataxia-Telangiectasia

Ataxia with Vitamin E Deficiency (AVED)

Atypical Rett Syndrome

Autosomal Dominant Hereditary Spastic Paraplegia

Autosomal Dominant Intellectual Disability

Autosomal Dominant Optic Atrophy

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)

CARASIL (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)

Cerebral Small Vessel Disease (CSVD)

Chronic Progressive External Ophthalmoplegia (CPEO)

Dentatorubralpallidoluysian Atrophy

Duchenne/Becker muscular dystrophy (DMD/BMD)

Emery-Dreifuss Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD)

Familial Hemiplegic Migraine

Frontotemporal Dementia

Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

Hemiplegic Migraine (sporadic or familial)

Hepatocerebral

Hepatoencephalopathic Type of Mitochondrial Disease

Hereditary Spastic Paraplegia

Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome

Limb girdle muscular dystrophy

Lafora disease

Marinesco-Sjorgren Syndrome

MELAS

MERRF

Mitochondrial Disease

Mitochondrial Disease associated with Mitochondrial Depletion Syndrome

Mitochondrial DNA Depletion Syndrome Type 1

Mitochondrial DNA Depletion Syndrome Type 6

Myotonia congenita

Newborn Congenital

Oculopharyngeal muscular dystrophy (OPMD)

Optic Atrophy

Optic Neuropathy

Parkinson’s disease

Rett Syndrome

Rett Syndrome, Congenital Variant

Sarcoglycanopathy

Severe Myoclonic Epilepsy of Infancy (SMEI)

Sodium Channel Myotonia

Spinal muscular atrophy (SMA)

Tuberous Sclerosis

X-Linked Spinal Muscular Atrophy

Hereditary Sensory and Autonomic Neuropathy (HSAN)

LGMD2B

Miyoshi myopathy

LGMD2I

MDC1C

LGMD2A

Calpainopathy

LGMD2D

LGMD1C

EAST Syndrome

Progressive External Ophthalmoplegia

Mitochondrial Hepatoencephalopathy

Mitochondrial Encephalomyopathy

Myotilinopathy

LGMD1A

LGMD2C

LGMD2E

LGMD2F

LGMD2L

Amyotrophic Lateral Sclerosis

Paroxysmal Nonkinesigenic Dyskinesia

Dystonia 6

Primary Torsion Dystonia

Neurofibromatosis Type 2

Primary Early-Onset Dystonia

Genetic forms of obesity

Neurofibromatosis Type 1

Benign Familial Infantile Epilepsy (BFIE)

Noonan Syndrome

Familial Paroxysmal Kinesigenic Dyskinesia (FPKD)

Unverricht-Lundborg Disease

Cerebral Cavernous Malformations

Autosomal Recessive Ataxia

Hereditary Ataxia

Autosomal Dominant Ataxia

Nephrotic Syndrome

Hereditary Neuralgic Amyotrophy (HNA)

Autism

Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease (familial mutation only)

Pseudohypoaldosteronism Type 1

Congenital Adrenal Hyperplasia

Apparent Mineralocorticoid Excess (AME)

Monogenic Hypertension

Alport Syndrome

Bartter-Gitelman Syndrome

Renal Cysts and Diabetes (RCAD)

Primary Microcephaly

Joubert Syndrome and Related Disorders

Osteoporosis-Pseudoglioma Syndrome

Multiple Endocrine Neoplasia Type 2

Familial Medullary Thyroid Cancer

Pheochromocytoma

X-linked Adrenoleukodystrophy

Male Precocious Puberty

Multiple Endocrine Neoplasia Type 1

Familial Idiopathic Hyperparathyroidism

Congenital Hyperinsulinism

Idiopathic Osteoporosis

Pyruvate Dehydrogenase E1-Alpha deficiency

Autosomal Dominant Hypocalcemia

Familial Hypocalciuric Hypercalcemia

Maturity-Onset Diabetes of Young (MODY)

MODY8

Diabetes

Growth Hormone Deficiency

Nephrogenic Diabetes Insipidus

Neonatal Diabetes Mellitus

X-linked Hypophosphatemic Rickets

Hypophosphatemic Rickets

Von Hippel-Lindau Syndrome

Bone Fragility

Combined Pituitary Hormone Deficiency

Bardet-Biedl Syndrome

Endocrine Hypertension

Early-onset Obesity

Familial Hypercholesterolemia

Epilepsy

Leukoencephalopathy with Vanishing White Matter

Metachromatic Leukodystrophy

Pelizaeus-Merzbacher Disease

Paraneoplastic Neurological Syndrome

Anti-MAG neuropathy

Anti-SGPG neuropathy

Neuromyelitis Optica

Anti-Sulfatide neuropathy

Gait ataxia late onset polyneuropathy (GALOP) syndrome

Sensory neuropathy

Guillain-Barr√© Syndrome

Stiff Person Syndrome

Myasthenia Gravis (MG)

Neuromyotonia

Muscular Dystrophy

Congenital Muscular Dystrophy

Congenital Myopathy

Distal Myopathy

Myofibrillar Myopathy

Myotonic Syndrome

Periodic Paralysis

Malignant Hyperthermia

Emery-Dreifuss Muscular Dystrophy

Limb Girdle Muscular Dystrophy

Duchenne Muscular Dystrophy (DMD)

Autoimmune Rapidly Progressive Dementia

Parkinson’s Disease

Intellectual Disability

Limb Girdle Muscular Dystrophy

Early Infantile Epileptic Encephalopathy

Spinocerebellar Ataxia Type 3 (SCA3)

Myotonic Dystrophy, Type 1

Alzheimer’s Disease

Myotonic Dystrophy, Type 2

Huntington’s Disease

Kennedy’s Disease

Spinal and Bulbar Muscular Atrophy

Friedreich’s Ataxia

Myotonic Dystrophy

Myotonia Congenita

Charcot-Marie-Tooth Disease (CMT), Type 1A (CMT1A)

Charcot-Marie-Tooth Disease (CMT), Type 1B (CMT1B)

Charcot-Marie-Tooth Disease (CMT), CMT2I (CMT Type 2I)

Charcot-Marie-Tooth Disease (CMT), CMT Type 2J (CMT2J)

Non-specific X-linked Mental Retardation (MRX)

X-linked Infantile Spasms Syndrome (ISSX)

West Syndrome (WS)

X-linked Myoclonic Epilepsy with Spasticity and Severe Intellectual Disability (XMESID)

Partington Syndrome (PRTS)

Charcot-Marie-Tooth Disease (CMT), Type 1X (CMT1X/CMTX)

Charcot-Marie-Tooth Disease (CMT), Type 2C (CMT2C)

Myotonia

Charcot-Marie-Tooth Disease (CMT)

Risk Factor

Family Testing

Familial Migraine

Migraine with Aura

Migraine

FHM Type 1

FHM Type 2

Charcot-Marie-Tooth Disease (CMT), Type 4H (CMT4H)

Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy with Respiratory Distress

Spinal Muscular Atrophy with Respiratory Distress (SMARD)

Charcot-Marie-Tooth Disease (CMT), Type 4A (CMT4A)

Charcot-Marie-Tooth Disease (CMT), Type 2K (CMT2K)

Charcot-Marie-Tooth Disease (CMT), Type 1C (CMT1C)

Charcot-Marie-Tooth Disease (CMT), Type 2A (CMT2A)

Charcot-Marie-Tooth Disease (CMT), Type 4C (CMT4C)

Charcot-Marie-Tooth Disease (CMT), Type 4J (CMT4J)

Charcot-Marie-Tooth Disease (CMT), Type 2B1 (CMT2B1)

Charcot-Marie-Tooth Disease (CMT), Type 2B (CMT2B)

Charcot-Marie-Tooth Disease (CMT), Type 2D (CMT2D)

Charcot-Marie-Tooth Disease (CMT), Type 2F (CMT2F)

Familial Amyloidotic Polyneuropathy, Type 1

Charcot-Marie-Tooth Disease (CMT), Type 4F (CMT4F)

Type 4F (CMT4F)

Hereditary Neuropathy with Susceptibility to Pressure Palsies (HNPP)

Congenital Hypomyelination Neuropathy

Charcot-Marie-Tooth Disease (CMT), Type 1E (CMT1E)

Dejerine-Sottas Syndrome

Charcot-Marie-Tooth Disease (CMT), Type 1D (CMT1D)

Charcot-Marie-Tooth Disease (CMT), Type 4E (CMT4E)

Charcot-Marie-Tooth Disease (CMT), Type 2E (CMT2E)

Charcot-Marie-Tooth Disease (CMT), Type 2M (CMT2M) and Dominant Intermediate B

Ataxia

Spinocerebellar Ataxia Type 13 (SCA13)

Spinocerebellar Ataxia Type 12 (SCA12)

Multifocal Neuropathy (MFN)

Oculopharyngeal Muscular Dystrophy (OPMD)

Sensorineural Hearing Loss

Deafness

Charcot-Marie-Tooth Disease (CMT), Type 4B (CMT4B)

Spinocerebellar Ataxia Type 1 (SCA1)

Spinocerebellar Ataxia Type 2 (SCA2)

Spinocerebellar Ataxia Type 6 (SCA6)

Spinocerebellar Ataxia Type 7 (SCA7)

Mitochondrial recessive Ataxia Syndrome (MIRAS)

Spinocerebellar Ataxia Type 8 (SCA8)

Spinocerebellar Ataxia Type 17 (SCA17)

Charcot-Marie-Tooth Disease (CMT), Type 4D (CMT4D)

Baltic Myoclonus

Lafora Disease

Juvenile Myoclonic Epilepsy

Warfarin Metabolism

Limbic Encephalitis

Alpers’ Syndrome

Symptomless Carriers of Spinal Muscular Atrophy (SMA)

Charcot-Marie-Tooth Disease (CMT), Type 2L (CMT2L)

Mitochondrial Disease Associated with Mitochondrial Depletion Syndrome

Charcot-Marie-Tooth Disease (CMT), Dominant Intermediate Type C

Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE)

Mitochondrial Disease, Hepatoencephalopathic

Mitochondrial Disease, Hepatocerebral

Ataxia with Oculomotor Apraxia 1 (AOA1)

Duchenne/Becker Muscular Dystrophy (DMD/BMD)

PCDH19 Female Epilepsy

Girls’ Clustering Epilepsy

Leber’s Hereditary Optic Neuropathy (LHON)

Leigh’s Syndrome

Hereditary Spastic Paraplegia

Dravet Syndrome

Benign Familial Neonatal Convulsions (BFNC)

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)

LGMD2B

Spinocerebellar Ataxia Type 14 (SCA14)

Ataxia with oculomotor apraxia Type 2 (AOA2)

Familial amyotrophic lateral Sclerosis (FALS)

Myoclonus-Dystonia

Dystonia 5

Hypokalemic Periodic Paralysis

Spinocerebellar Ataxia Type 28 (SCA28)

Spinocerebellar Ataxia Type 5 (SCA5)

Steroid-resistant nephrotic Syndrome (SRNS)

Sporadic Nephrotic Syndrome

Congenital Nephrotic Syndrome of the Finnish Type (CNF) and Focal Segmental Glomerulosclerosis (FSGS)

Focal Segmental Glomerulosclerosis (FSGS)

Focal Segmental Glomerulosclerosis

Polycystic Kidney Disease (PKD)

Dysmorphic Syndrome

Developmental Disability

Liddle’s Syndrome

Familial Juvenile Nephronophthisis (FJN)

Smith-Magenis

Familial Juvenile Hyperuricemic (or Gouty) Nephropathy (FJHN) and Medullary Cystic Kidney Disease Type II (MCKD2)

Glucocorticoid-remediable Aldosteronism

MODY1

MODY2

MODY3

MODY5

Autoimmune Polyglandular Syndrome

X-linked Adrenal Hypoplasia Congenita

DAX1

Primary Adrenal Insufficiency

Zollinger-Ellison Syndrome

Idiopathic Short Stature

Pituitary Disorders

Idiopathic GH Deficiency

Familial Defective Apolipoprotein B-1 (FDB)

Seizure Disorders

Generalized, Absence, Myoclonus, Focal Epilepsy

Progressive Myoclonus Epilepsy

Epileptic Encephalopathy

Neuronal Migration Disorders

X-linked Intellectual Disability (XLID)

Neuronal Ceroid Lipofuscinosis (NCL)

Syndromic Epilepsy

Infantile Spasms

West Syndrome

Pelizaeus-Merzbacher-Like Disease

Congenital Variant

Lower Motor Neuron Disease

Multiple Sclerosis

Cancer-Associated Retinopathy

Anti-MAG Neuropathy

Miller-Fisher Syndrome

Anti-Sulfatide Neuropathy

Gait Ataxia Late Onset Polyneuropathy (GALOP) Syndrome

Sensory and Motor Neuropathies

Multifocal Neuropathies

Motor Peripheral Neuropathy

Multifocal Motor Neuropathy

Autoimmune Encephalitis

Lambert-Eaton Myasthenic Syndrome

Autoimmune Epilepsy

Seizure disorders

All Neurogenetic Disorders

Neurome

Spinocerebellar Ataxia Type 10 (SCA10)

Congenital Myasthenic Syndrome

Episodic Ataxia

Oculomotor Apraxia-Ataxia

GLUT1 Deficiency Syndrome

Demyelinating Disease

Myelin Disorder

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