Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Conditions

Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome · Prenatal Benign Hypophosphatasia · Perinatal Lethal Hypophosphatasia · Odontohypophosphatasia · Adult Hypophosphatasia · Childhood-onset Hypophosphatasia · Infantile Hypophosphatasia · Hypophosphatasia · Kabuki Syndrome · Bohring-Opitz Syndrome · Narcolepsy Without Cataplexy · Narcolepsy-cataplexy · Hypersomnolence Disorder · Idiopathic Hypersomnia Without Long Sleep Time · Idiopathic Hypersomnia With Long Sleep Time · Idiopathic Hypersomnia · Kleine-Levin Syndrome · Kawasaki Disease · Leiomyosarcoma · Leiomyosarcoma of the Corpus Uteri · Leiomyosarcoma of the Cervix Uteri · Leiomyosarcoma of Small Intestine · Acquired Myasthenia Gravis · Addison Disease · Hyperacusis (Hyperacousis) · Juvenile Myasthenia Gravis · Transient Neonatal Myasthenia Gravis · Williams Syndrome · Lyme Disease · Myasthenia Gravis · Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome) · Isolated Klippel-Feil Syndrome · Frasier Syndrome · Denys-Drash Syndrome · Beckwith-Wiedemann Syndrome · Emanuel Syndrome · Isolated Aniridia · Axenfeld-Rieger Syndrome · Aniridia-intellectual Disability Syndrome · Aniridia - Renal Agenesis - Psychomotor Retardation · Aniridia - Ptosis - Intellectual Disability - Familial Obesity · Aniridia - Cerebellar Ataxia - Intellectual Disability · Aniridia - Absent Patella · Aniridia · Peters Anomaly - Cataract · Peters Anomaly · Potocki-Shaffer Syndrome · Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 · Silver-Russell Syndrome Due to Imprinting Defect of 11p15 · Silver-Russell Syndrome Due to 11p15 Microduplication · Syndromic Aniridia · WAGR Syndrome · Wolf-Hirschhorn Syndrome · 4p16.3 Microduplication Syndrome · 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome · Autosomal Recessive Stickler Syndrome · Stickler Syndrome Type 2 · Stickler Syndrome Type 1 · Stickler Syndrome · Mucolipidosis Type 4 · X-linked Spinocerebellar Ataxia Type 4 · X-linked Spinocerebellar Ataxia Type 3 · X-linked Intellectual Disability - Ataxia - Apraxia · X-linked Progressive Cerebellar Ataxia · X-linked Non Progressive Cerebellar Ataxia · X-linked Cerebellar Ataxia · Vitamin B12 Deficiency Ataxia · Toxic Exposure Ataxia · Unclassified Autosomal Dominant Spinocerebellar Ataxia · Thyroid Antibody Ataxia · Sporadic Adult-onset Ataxia of Unknown Etiology · Spinocerebellar Ataxia With Oculomotor Anomaly · Spinocerebellar Ataxia With Epilepsy · Spinocerebellar Ataxia With Axonal Neuropathy Type 2 · Spinocerebellar Ataxia Type 8 · Spinocerebellar Ataxia Type 7 · Spinocerebellar Ataxia Type 6 · Spinocerebellar Ataxia Type 5 · Spinocerebellar Ataxia Type 4 · Spinocerebellar Ataxia Type 37 · Spinocerebellar Ataxia Type 36 · Spinocerebellar Ataxia Type 35 · Spinocerebellar Ataxia Type 34 · Spinocerebellar Ataxia Type 32 · Spinocerebellar Ataxia Type 31 · Spinocerebellar Ataxia Type 30 · Spinocerebellar Ataxia Type 3 · Spinocerebellar Ataxia Type 29 · Spinocerebellar Ataxia Type 28 · Spinocerebellar Ataxia Type 27 · Spinocerebellar Ataxia Type 26 · Spinocerebellar Ataxia Type 25 · Spinocerebellar Ataxia Type 23 · Spinocerebellar Ataxia Type 22 · Spinocerebellar Ataxia Type 21 · Spinocerebellar Ataxia Type 20 · Spinocerebellar Ataxia Type 2 · Spinocerebellar Ataxia Type 19/22 · Spinocerebellar Ataxia Type 18 · Spinocerebellar Ataxia Type 17 · Spinocerebellar Ataxia Type 16 · Spinocerebellar Ataxia Type 15/16 · Spinocerebellar Ataxia Type 14 · Spinocerebellar Ataxia Type 13 · Spinocerebellar Ataxia Type 12 · Spinocerebellar Ataxia Type 11 · Spinocerebellar Ataxia Type 10 · Spinocerebellar Ataxia Type 1 With Axonal Neuropathy · Spinocerebellar Ataxia Type 1 · Spinocerebellar Ataxia - Unknown · Spinocerebellar Ataxia - Dysmorphism · Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature · Spasticity-ataxia-gait Anomalies Syndrome · Spastic Ataxia With Congenital Miosis · Spastic Ataxia - Corneal Dystrophy · Spastic Ataxia · Rare Hereditary Ataxia · Rare Ataxia · Recessive Mitochondrial Ataxia Syndrome · Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature · Posterior Column Ataxia - Retinitis Pigmentosa · Post-Stroke Ataxia · Post-Head Injury Ataxia · Post Vaccination Ataxia · Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract · Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus · Non-hereditary Degenerative Ataxia · Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity · Olivopontocerebellar Atrophy - Deafness · NARP Syndrome · Myoclonus - Cerebellar Ataxia - Deafness · Multiple System Atrophy, Parkinsonian Type · Multiple System Atrophy, Cerebellar Type · Multiple System Atrophy · Maternally-inherited Leigh Syndrome · Machado-Joseph Disease Type 3 · Machado-Joseph Disease Type 2 · Machado-Joseph Disease Type 1 · Leigh Syndrome · Late-onset Ataxia With Dementia · Infection or Post Infection Ataxia · GAD Ataxia · Hereditary Episodic Ataxia · Gliadin/Gluten Ataxia · Friedreich Ataxia · Fragile X-associated Tremor/Ataxia Syndrome · Familial Paroxysmal Ataxia · Exposure to Medications Ataxia · Episodic Ataxia With Slurred Speech · Episodic Ataxia Unknown Type · Episodic Ataxia Type 7 · Episodic Ataxia Type 6 · Episodic Ataxia Type 5 · Episodic Ataxia Type 4 · Episodic Ataxia Type 3 · Episodic Ataxia Type 1 · Epilepsy and/or Ataxia With Myoclonus as Major Feature · Early-onset Spastic Ataxia-neuropathy Syndrome · Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity · Early-onset Cerebellar Ataxia With Retained Tendon Reflexes · Early-onset Ataxia With Dementia · Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia · Dilated Cardiomyopathy With Ataxia · Cataract - Ataxia - Deafness · Cerebellar Ataxia, Cayman Type · Cerebellar Ataxia With Peripheral Neuropathy · Cerebellar Ataxia - Hypogonadism · Cerebellar Ataxia - Ectodermal Dysplasia · Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss · Brain Tumor Ataxia · Brachydactyly - Nystagmus - Cerebellar Ataxia · Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia · Autosomal Recessive Syndromic Cerebellar Ataxia · Autosomal Recessive Spastic Ataxia With Leukoencephalopathy · Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay · Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria · Autosomal Recessive Spastic Ataxia · Autosomal Recessive Metabolic Cerebellar Ataxia · Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine · Autosomal Recessive Ataxia, Beauce Type · Autosomal Recessive Ataxia Due to Ubiquinone Deficiency · Autosomal Recessive Ataxia Due to PEX10 Deficiency · Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia · Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency · Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency · Autosomal Recessive Congenital Cerebellar Ataxia · Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome · Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency · Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency · Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency · Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome · Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity · Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency · Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect · Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion · Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation · Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness · Autosomal Recessive Cerebellar Ataxia · Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly · Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation · Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy · Autosomal Dominant Spastic Ataxia Type 1 · Autosomal Dominant Spastic Ataxia · Autosomal Dominant Optic Atrophy · Ataxia-telangiectasia Variant · Ataxia-telangiectasia · Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy · Autosomal Dominant Cerebellar Ataxia Type 4 · Autosomal Dominant Cerebellar Ataxia Type 3 · Autosomal Dominant Cerebellar Ataxia Type 2 · Autosomal Dominant Cerebellar Ataxia Type 1 · Autosomal Dominant Cerebellar Ataxia · Ataxia-telangiectasia-like Disorder · Ataxia With Vitamin E Deficiency · Ataxia With Dementia · Ataxia - Oculomotor Apraxia Type 1 · Ataxia - Other · Ataxia - Genetic Diagnosis - Unknown · Acquired Ataxia · Adult-onset Autosomal Recessive Cerebellar Ataxia · Alcohol Related Ataxia · Multiple Endocrine Neoplasia · Multiple Endocrine Neoplasia Type II · Multiple Endocrine Neoplasia Type 1 · Multiple Endocrine Neoplasia Type 2 · Multiple Endocrine Neoplasia, Type IV · Multiple Endocrine Neoplasia, Type 3 · Multiple Endocrine Neoplasia (MEN) Syndrome · Multiple Endocrine Neoplasia Type 2B · Multiple Endocrine Neoplasia Type 2A · Atypical Hemolytic Uremic Syndrome · Atypical HUS · Wiedemann-Steiner Syndrome · Breast Implant-Associated Anaplastic Large Cell Lymphoma · Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA) · Hemophagocytic Lymphohistiocytosis · Behcet's Disease · Alagille Syndrome · Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD) · Lowe Syndrome · Pitt Hopkins Syndrome · 1p36 Deletion Syndrome · Jansen Type Metaphyseal Chondrodysplasia · Cockayne Syndrome · Chronic Recurrent Multifocal Osteomyelitis · CRMO · Malan Syndrome · Hereditary Sensory and Autonomic Neuropathy Type Ie · VCP Disease · Hypnic Jerking · Sleep Myoclonus · Mollaret Meningitis · Recurrent Viral Meningitis · CRB1 · Leber Congenital Amaurosis · Retinitis Pigmentosa · Rare Retinal Disorder · KCNMA1-Channelopathy · Primary Biliary Cirrhosis · ZMYND11 · Transient Global Amnesia · Glycogen Storage Disease · Alstrom Syndrome · White Sutton Syndrome · DNM1 · EIEE31 · Myhre Syndrome · Recurrent Respiratory Papillomatosis · Laryngeal Papillomatosis · Tracheal Papillomatosis · Refsum Disease · Nicolaides Baraitser Syndrome · Leukodystrophy · Tango2 · Cauda Equina Syndrome · Rare Gastrointestinal Disorders · Achalasia-Addisonian Syndrome · Achalasia Cardia · Achalasia Icrocephaly Syndrome · Anal Fistula · Congenital Sucrase-Isomaltase Deficiency · Eosinophilic Gastroenteritis · Idiopathic Gastroparesis · Hirschsprung Disease · Rare Inflammatory Bowel Disease · Intestinal Pseudo-Obstruction · Scleroderma · Short Bowel Syndrome · Sacral Agenesis · Sacral Agenesis Syndrome · Caudal Regression · Scheuermann Disease · SMC1A Truncated Mutations (Causing Loss of Gene Function) · Cystinosis · Juvenile Nephropathic Cystinosis · Nephropathic Cystinosis · Kennedy Disease · Spinal Bulbar Muscular Atrophy · Warburg Micro Syndrome · Mucolipidoses · Mitochondrial Diseases · Mitochondrial Aminoacyl-tRNA Synthetases · Mt-aaRS Disorders · Hypertrophic Olivary Degeneration · Non-Ketotic Hyperglycinemia · Fish Odor Syndrome · Halitosis · Isolated Congenital Asplenia · Lambert Eaton (LEMS) · Biliary Atresia · STAG1 Gene Mutation · Coffin Lowry Syndrome · Borjeson-Forssman-Lehman Syndrome · Blau Syndrome · Arginase 1 Deficiency · HSPB8 Myopathy · Beta-Mannosidosis · TBX4 Syndrome · DHDDS Gene Mutations · MAND-MBD5-Associated Neurodevelopmental Disorder · Constitutional Mismatch Repair Deficiency (CMMRD) · SPATA5 Disorder · SPATA5L1 Related Disorder · Acrodysostosis · Multi-systematic Smooth Muscle Dysfunction Syndrome · CRELD1 (Cysteine Rich With EGF Like Domains 1) · GNB1 Syndrome · Pyruvate Dehydrogenase Complex Deficiency Disease · Beta Mannosidosis · Kbg Syndrome · Labrune Syndrome · Metachromatic Leukodystrophy (MLD) · Moyamoya Disease · OPHN1 Syndrome · Oculopharyngeal Muscular Dystrophy (OPMD) · TUBB3 Mutation · WOREE (WWOX-related Epileptic Encephalopathy · SCAR12 · Skraban-Deardorff Syndrome · Hereditary Myopathy With Early Respiratory Failure