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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)
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Hemiplegic Migraine (sporadic or familial)
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Myotonia congenita
Newborn Congenital
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Optic Atrophy
Optic Neuropathy
Parkinson’s disease
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Sarcoglycanopathy
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Sodium Channel Myotonia
Spinal muscular atrophy (SMA)
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LGMD2B
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Dystonia 6
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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
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Nephrotic Syndrome
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Autism
Autosomal Dominant Polycystic Kidney Disease
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Pseudohypoaldosteronism Type 1
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Monogenic Hypertension
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Bartter-Gitelman Syndrome
Renal Cysts and Diabetes (RCAD)
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Osteoporosis-Pseudoglioma Syndrome
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Familial Medullary Thyroid Cancer
Pheochromocytoma
X-linked Adrenoleukodystrophy
Male Precocious Puberty
Multiple Endocrine Neoplasia Type 1
Familial Idiopathic Hyperparathyroidism
Congenital Hyperinsulinism
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Pyruvate Dehydrogenase E1-Alpha deficiency
Autosomal Dominant Hypocalcemia
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MODY8
Diabetes
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Neonatal Diabetes Mellitus
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Bone Fragility
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Early-onset Obesity
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Metachromatic Leukodystrophy
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Anti-MAG neuropathy
Anti-SGPG neuropathy
Neuromyelitis Optica
Anti-Sulfatide neuropathy
Gait ataxia late onset polyneuropathy (GALOP) syndrome
Sensory neuropathy
Guillain-Barré Syndrome
Stiff Person Syndrome
Myasthenia Gravis (MG)
Neuromyotonia
Muscular Dystrophy
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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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