Hirschsprung Disease
Wiedemann-Steiner Syndrome
Spinocerebellar Ataxia Type 13
Eosinophilic Gastroenteritis
4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome
Hypophosphatasia
Spinocerebellar Ataxia Type 15/16
Multiple Endocrine Neoplasia Type 1
Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity
Spinocerebellar Ataxia Type 20
Multiple System Atrophy
Idiopathic Hypersomnia Without Long Sleep Time
Spinocerebellar Ataxia Type 34
Spinocerebellar Ataxia Type 2
Perinatal Lethal Hypophosphatasia
Post Vaccination Ataxia
Aniridia - Cerebellar Ataxia - Intellectual Disability
Narcolepsy Without Cataplexy
X-linked Spinocerebellar Ataxia Type 4
Aniridia - Renal Agenesis - Psychomotor Retardation
Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect
Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation
Breast Implant-Associated Anaplastic Large Cell Lymphoma
Lyme Disease
Bohring-Opitz Syndrome
Brachydactyly - Nystagmus - Cerebellar Ataxia
Stickler Syndrome Type 1
Hypersomnolence Disorder
Spinocerebellar Ataxia Type 32
Cerebellar Ataxia With Peripheral Neuropathy
X-linked Cerebellar Ataxia
Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency
Mt-aaRS Disorders
Leiomyosarcoma of the Corpus Uteri
Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)
Spinocerebellar Ataxia Type 1 With Axonal Neuropathy
GAD Ataxia
Posterior Column Ataxia - Retinitis Pigmentosa
Spinocerebellar Ataxia Type 8
Beckwith-Wiedemann Syndrome
Transient Neonatal Myasthenia Gravis
DNM1
Multiple System Atrophy, Cerebellar Type
Spinocerebellar Ataxia Type 3
Childhood-onset Hypophosphatasia
Autosomal Recessive Stickler Syndrome
Spinocerebellar Ataxia Type 5
Cerebellar Ataxia - Hypogonadism
Idiopathic Hypersomnia With Long Sleep Time
Spinocerebellar Ataxia Type 10
Post-Head Injury Ataxia
Idiopathic Hypersomnia
Spinocerebellar Ataxia Type 35
Spinocerebellar Ataxia Type 14
Scleroderma
Transient Global Amnesia
Retinitis Pigmentosa
NARP Syndrome
CRMO
Ataxia With Vitamin E Deficiency
Hereditary Sensory and Autonomic Neuropathy Type Ie
Aniridia - Absent Patella
Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature
Hypnic Jerking
Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency
Scheuermann Disease
Fragile X-associated Tremor/Ataxia Syndrome
ZMYND11
Leukodystrophy
Episodic Ataxia Type 6
EIEE31
Episodic Ataxia Type 5
Spinocerebellar Ataxia Type 26
Maternally-inherited Leigh Syndrome
Peters Anomaly - Cataract
Kabuki Syndrome
Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion
Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency
Rare Gastrointestinal Disorders
Multiple System Atrophy, Parkinsonian Type
Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia
Ataxia-telangiectasia
Infantile Hypophosphatasia
Spinocerebellar Ataxia Type 17
Autosomal Dominant Optic Atrophy
Post-Stroke Ataxia
Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency
Spinocerebellar Ataxia Type 36
Ataxia - Oculomotor Apraxia Type 1
Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 23
Wolf-Hirschhorn Syndrome
Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome
Non-hereditary Degenerative Ataxia
Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine
Spinocerebellar Ataxia Type 11
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia
Spinocerebellar Ataxia Type 31
Dilated Cardiomyopathy With Ataxia
Ataxia - Genetic Diagnosis - Unknown
Gliadin/Gluten Ataxia
Unclassified Autosomal Dominant Spinocerebellar Ataxia
Friedreich Ataxia
Autosomal Recessive Ataxia Due to Ubiquinone Deficiency
Silver-Russell Syndrome Due to Imprinting Defect of 11p15
Caudal Regression
Recurrent Viral Meningitis
Hyperacusis (Hyperacousis)
Autosomal Recessive Metabolic Cerebellar Ataxia
Machado-Joseph Disease Type 2
Spinocerebellar Ataxia Type 30
Spinocerebellar Ataxia Type 28
Isolated Aniridia
Machado-Joseph Disease Type 3
Juvenile Nephropathic Cystinosis
Hemophagocytic Lymphohistiocytosis
Mucolipidoses
X-linked Spinocerebellar Ataxia Type 3
Behcet's Disease
MAND-MBD5-Associated Neurodevelopmental Disorder
Odontohypophosphatasia
Spinocerebellar Ataxia Type 6
Infection or Post Infection Ataxia
Sleep Myoclonus
WAGR Syndrome
Achalasia Cardia
Stickler Syndrome Type 2
DHDDS Gene Mutations
Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness
Disorders of Unknown Prevalence
Non-Ketotic Hyperglycinemia
Late-onset Ataxia With Dementia
Addison Disease
Syndromic Aniridia
Vitamin B12 Deficiency Ataxia
Multiple Endocrine Neoplasia Type II
Cornelia De Lange Syndrome
Juvenile Myasthenia Gravis
Toxic Exposure Ataxia
Multiple Endocrine Neoplasia Type 2B
Rare Disorders
Leiomyosarcoma of Small Intestine
VCP Disease
Spinocerebellar Ataxia Type 4
Potocki-Shaffer Syndrome
Exposure to Medications Ataxia
Mitochondrial Diseases
CRB1
Multiple Endocrine Neoplasia, Type IV
Alagille Syndrome
Autosomal Dominant Cerebellar Ataxia Type 2
Autosomal Dominant Cerebellar Ataxia
Autosomal Dominant Spastic Ataxia Type 1
Halitosis
Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency
Multiple Endocrine Neoplasia Type 2
Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)
SPATA5L1 Related Disorder
Nicolaides Baraitser Syndrome
Alcohol Related Ataxia
Autosomal Recessive Spastic Ataxia
Biliary Atresia
Thyroid Antibody Ataxia
Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy
Constitutional Mismatch Repair Deficiency (CMMRD)
Spinocerebellar Ataxia Type 25
Denys-Drash Syndrome
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Emanuel Syndrome
Ataxia - Other
Fish Odor Syndrome
Early-onset Ataxia With Dementia
Ataxia-telangiectasia-like Disorder
Spinocerebellar Ataxia Type 16
STAG1 Gene Mutation
Peters Anomaly
Coffin Lowry Syndrome
Beta-Mannosidosis
Spinocerebellar Ataxia Type 21
Autosomal Dominant Cerebellar Ataxia Type 3
Congenital Sucrase-Isomaltase Deficiency
Olivopontocerebellar Atrophy - Deafness
SMC1A Truncated Mutations (Causing Loss of Gene Function)
Anal Fistula
Tracheal Papillomatosis
Primary Biliary Cirrhosis
Cerebellar Ataxia - Ectodermal Dysplasia
Refsum Disease
Warburg Micro Syndrome
Recessive Mitochondrial Ataxia Syndrome
Mucolipidosis Type 4
Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)
Spastic Ataxia With Congenital Miosis
Chronic Recurrent Multifocal Osteomyelitis
Sacral Agenesis
Hypertrophic Olivary Degeneration
Familial Paroxysmal Ataxia
Hereditary Episodic Ataxia
Autosomal Recessive Cerebellar Ataxia
Myasthenia Gravis
Mollaret Meningitis
Autosomal Dominant Cerebellar Ataxia Type 4
Aniridia
Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Borjeson-Forssman-Lehman Syndrome
Rare Retinal Disorder
Episodic Ataxia Type 3
Spinocerebellar Ataxia Type 29
Ataxia With Dementia
Prenatal Benign Hypophosphatasia
Nephropathic Cystinosis
Kleine-Levin Syndrome
Autosomal Recessive Congenital Cerebellar Ataxia
Leigh Syndrome
1p36 Deletion Syndrome
Cataract - Ataxia - Deafness
Autosomal Recessive Ataxia Due to PEX10 Deficiency
Rare Inflammatory Bowel Disease
Episodic Ataxia Unknown Type
Spinocerebellar Ataxia - Unknown
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11
Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation
Glycogen Storage Disease
Episodic Ataxia With Slurred Speech
Blau Syndrome
Aniridia - Ptosis - Intellectual Disability - Familial Obesity
Kawasaki Disease
Adult-onset Autosomal Recessive Cerebellar Ataxia
X-linked Progressive Cerebellar Ataxia
Spinocerebellar Ataxia Type 22
Acquired Myasthenia Gravis
Episodic Ataxia Type 4
Spinocerebellar Ataxia - Dysmorphism
Cockayne Syndrome
Tango2
Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy
Myoclonus - Cerebellar Ataxia - Deafness
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
KCNMA1-Channelopathy
X-linked Non Progressive Cerebellar Ataxia
Spasticity-ataxia-gait Anomalies Syndrome
Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus
Lambert Eaton (LEMS)
Isolated Congenital Asplenia
HSPB8 Myopathy
Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome
Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria
Recurrent Respiratory Papillomatosis
Autosomal Dominant Spastic Ataxia
Epilepsy and/or Ataxia With Myoclonus as Major Feature
Adult Hypophosphatasia
Aniridia-intellectual Disability Syndrome
Multiple Endocrine Neoplasia, Type 3
Cerebellar Ataxia, Cayman Type
Arginase 1 Deficiency
4p16.3 Microduplication Syndrome
Rare Hereditary Ataxia
Short Bowel Syndrome
Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature
SPATA5 Disorder
Autosomal Recessive Ataxia, Beauce Type
Spinocerebellar Ataxia Type 19/22
Sacral Agenesis Syndrome
Alstrom Syndrome
Cauda Equina Syndrome
Multiple Endocrine Neoplasia
Narcolepsy-cataplexy
Atypical HUS
Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly
Spastic Ataxia
Spinocerebellar Ataxia Type 7
Axenfeld-Rieger Syndrome
Frasier Syndrome
Spastic Ataxia - Corneal Dystrophy
Idiopathic Gastroparesis
Leber Congenital Amaurosis
Jansen Type Metaphyseal Chondrodysplasia
Rare Ataxia
Intestinal Pseudo-Obstruction
Myhre Syndrome
Kennedy Disease
White Sutton Syndrome
Spinocerebellar Ataxia With Epilepsy
Spinocerebellar Ataxia Type 18
Pitt Hopkins Syndrome
Cystinosis
Malan Syndrome
Leiomyosarcoma of the Cervix Uteri
Atypical Hemolytic Uremic Syndrome
Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract
Episodic Ataxia Type 7
Multiple Endocrine Neoplasia (MEN) Syndrome
Silver-Russell Syndrome Due to 11p15 Microduplication
X-linked Intellectual Disability - Ataxia - Apraxia
Undiagnosed Disorders
Achalasia-Addisonian Syndrome
Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency
Lowe Syndrome
Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity
Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss
Mitochondrial Aminoacyl-tRNA Synthetases
Multiple Endocrine Neoplasia Type 2A
Stickler Syndrome
Spinocerebellar Ataxia Type 12
Early-onset Spastic Ataxia-neuropathy Syndrome
Ataxia-telangiectasia Variant
Spinocerebellar Ataxia Type 37
Episodic Ataxia Type 1
Early-onset Cerebellar Ataxia With Retained Tendon Reflexes
Isolated Klippel-Feil Syndrome
Achalasia Icrocephaly Syndrome
Autosomal Dominant Cerebellar Ataxia Type 1
Machado-Joseph Disease Type 1
Spinocerebellar Ataxia Type 27
Laryngeal Papillomatosis
TBX4 Syndrome
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity
Spinocerebellar Ataxia With Oculomotor Anomaly
Leiomyosarcoma
Autosomal Recessive Syndromic Cerebellar Ataxia
Brain Tumor Ataxia
Sporadic Adult-onset Ataxia of Unknown Etiology
Williams Syndrome
Spinal Bulbar Muscular Atrophy
Acquired Ataxia