Recruiting

N/A

450

Europe, US

Pegvaliase

BioMarin Pharmaceutical

Phenylketonuria (PKU)

11/33

11/33

Recruiting

N/A

135

US

National Cancer Institute (NCI)

Multicentric Castleman s Disease

01/34

01/35

Recruiting

N/A

1000

US

Boston Children's Hospital, Lymphatic Malformation Institute

Lymphatic Malformation, Generalized Lymphatic Anomaly (GLA), Central Conducting Lymphatic Anomaly, CLOVES Syndrome, Gorham-Stout Disease ("Disappearing Bone Disease"), Blue Rubber Bleb Nevus Syndrome, Kaposiform Lymphangiomatosis, Kaposiform Hemangioendothelioma/Tufted Angioma, Klippel-Trenaunay Syndrome, Lymphangiomatosis

06/35

06/35

Recruiting

N/A

200

US

Metabolic camp

Emory University

Pregnancy, Phenylketonuria

07/35

07/37

Recruiting

N/A

4000

 

Nil

Guangzhou Women and Children's Medical Center; Guangzhou Women and Children's Medical Center, Self-financing

Hischsprung‘s disease

 

 

Recruiting

N/A

50

RoW

Onasemnogene Abeparvovec, Zolgensma

Novartis Pharmaceuticals

Spinal Muscular Atrophies

08/38

08/38

Recruiting

N/A

35000

Europe

UK Kidney Association

Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis, Alport Syndrome, Atypical Hemolytic Uremic Syndrome, Autoimmune Distal Renal Tubular Acidosis, Autosomal Recessive Proximal Renal Tubular Acidosis, Autosomal Recessive Distal Renal Tubular Acidosis, Autosomal Dominant Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney Disease, Bartter Syndrome, BK Nephropathy, C3 Glomerulopathy With Monoclonal Gammopathy, C3 Glomerulopathy, Calciphylaxis, Crystalglobulinaemia, Crystal-storing Histiocytosis, Cystinosis, Cystinuria, Dense Deposit Disease, Dent Disease, Denys-Drash Syndrome, Dominant Hypophosphataemia With Nephrolithiasis and/or Osteoporosis, Drug Induced Fanconi Syndrome, Drug-Induced Hypomagnesemia, Drug-Induced Nephrogenic Diabetes Insipidus, Epilepsy, Ataxia, Sensorineural Deafness and Tubulopathy, Fabry Disease, Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis, Familial Primary Hypomagnesemia With Hypocalcuria, Familial Primary Hypomagnesaemia With Normocalciuria, Familial Renal Glucosuria, Fanconi Renotubular Syndrome 1, Fanconi Renotubular Syndrome 2, Fanconi Renotubular Syndrome 3, Fibrillary Glomerulonephritis, Fibromuscular Dysplasia, Focal Segmental Glomerulosclerosis, Generalised Pseudohypoaldosteronism Type 1, Gitelman Syndrome, Heavy-Metal-Induced Fanconi Syndrome, Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes, Hereditary Renal Hypouricemia, Hereditary Hypophosphatemic Rickets With Hypercalciuria, Hyperuricaemic Nephropathy, IgA Nephropathy, Immunotactoid Glomerulonephritis With Organised Microtubular Mononoclonal Immunoglobulin Deposits, Inherited Renal Cancer Syndromes, Intracapillary Monoclonal IgM Without Cryoglobulin, Intraglomerular/Capillary Lymphoma/Leukaemia, Isolated Autosomal Dominant Hypomagnesaemia Glaudemans Type, Liddle Syndrome, Light Chain Cast Nephropathy, Light Chain Proximal Tubulopathy Without Crystals, Light Chain Proximal Tubulopathy With Crystals, Lowe Syndrome, Membranous Nephropathy, Membranoproliferative Glomerulonephritis, Medullary Cystic Kidney Disease, Minimal Change Nephropathy, Mitochondrial Disease Of The Kidney, Monoclonal Immunoglobulin Deposition Disease, Nail Patella Syndrome, Nephrogenic Diabetes Insipidus, Nephrogenic Syndrome of Inappropriate Antidiuresis, Nephronophthisis, Primary Hypomagnesemia With Secondary Hypocalcemia, Primary Hyperoxaluria, Proliferative Glomerulonephritis With Monoclonal IgG Deposits, Proximal Tubulopathy Without Crystals, Pseudohypoaldosteronism Type 1, 2A-2E, Pure Red Cell Aplasia, Retroperitoneal Fibrosis, Sickle Cell Nephropathy, Shiga Toxin Associated Haemolytic Uraemic Syndrome, Steroid Resistant Nephrotic Syndrome, Steroid-Sensitive Nephrotic Syndrome, Thin Basement Membrane Nephropathy, Thrombotic Microangiopathy With Monoclonal Gammopathy, Type 1 Cryoglobulinaemic Glomerulonephritis, Tuberous Sclerosis, Unclassified Monoclonal Gammopathy Of Renal Significance, Vasculitis

12/39

12/39

Enrolling by invitation

N/A

5000

US

POEM (Per Oral Endoscopic Myotomy), POEM

Indiana University

Achalasia

01/40

01/40

Recruiting

N/A

1000

US

Cedars-Sinai Medical Center

Multiple Sclerosis, Multiple Sclerosis, Relapsing-Remitting, Multiple Sclerosis, Primary Progressive, Multiple Sclerosis, Secondary Progressive, Clinically Isolated Syndrome, Radiologically Isolated Syndrome, Neuromyelitis Optica Spectrum Disorders, Myelin Oligodendrocyte Glycoprotein Antibody-associated Disease, Neurologic Autoimmune Disease, Neurologic Disorder, Healthy Aging

11/41

11/41

Recruiting

N/A

500

US

HEMGENIX, Etranacogene dezaparvovec, Factor IX (FIX)

CSL Behring

Hemophilia B

08/43

08/43

Recruiting

N/A

10000

Europe

Data collection

University Hospital Tuebingen

Rare Diseases

01/50

01/55

Recruiting

N/A

1000

US

Children's Hospital Medical Center, Cincinnati, Lymphangiomatosis and Gorham's Disease Alliance (LGDA), Klippel Trenaunay (KT) Support Group, CLOVES Syndrome Community Support Group

Vascular Anomaly, Generalized Lymphatic Anomaly, Kaposiform Hemangioendothelioma, Kaposiform Lymphangiomatosis, Gorham-Stout Disease, Klippel Trenaunay Syndrome, Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

12/50

12/50

Recruiting

N/A

500

Europe

University of Bern, Schweizerische Multiple Sklerose Gesellschaft, University Hospital Inselspital, Berne, Roche Pharma (Switzerland) Ltd, Novartis

Optic Neuritis, Transverse Myelitis, Acute Disseminated Encephalomyelitis, Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder, Anti-NMDAR Encephalitis, Anti-GAD65 Associated Autoimmune Encephalitis, Anti-AMPAR-1/2 Associated Autoimmune Encephalitis, Anti-Lgi-1 Associated Autoimmune Encephalitis, Anti-CASPR-2 Associated Autoimmune Encephalitis, Anti-GABAR-1/2 Associated Autoimmune Encephalitis, Onconeuronal Antibody (Hu, Ri, Yo, Amphiphysin, CRMP-5, Ma-1, Ma-2, SOX-1) Associated Autoimmune Encephalitis, Hashimoto Encephalitis, CNS Vasculitis, CNS Sarcoidosis, CNS Lupus, Rasmussen Encephalitis

01/71

01/71

Recruiting

N/A

20000

US, RoW

Sanford Health, National Ataxia Foundation, International WAGR Syndrome Association, 4p- Support Group, ML4 Foundation, Cornelia de Lange Syndrome Foundation, Stickler Involved People, Kawasaki Disease Foundation, Klippel-Feil Syndrome Alliance, Klippel-Feil Syndrome Freedom, Hyperacusis Research Limited, Hypersomnia Foundation, Kabuki Syndrome Network, Kleine-Levin Syndrome Foundation, Leiomyosarcoma Direct Research Foundation, Marinesco-Sjogren Syndrome Support Group - NORD, Mucolipidosis Type IV (ML4) Foundation, People with Narcolepsy 4 People with Narcolepsy (PWN4PWN), Soft Bones Incorporated, American Multiple Endocrine Neoplasia Support, Atypical Hemolytic Uremic Syndrome Foundation, All Things Kabuki, Wiedemann-Steiner Syndrome Foundation, Breast Implant Victim Advocates, PROS Foundation, American Behcet's Disease Association, Alstrom United Kingdom, Athymia, Curing Retinal Blindness Foundation, HSAN1E Society, 1p36 Deletion Support and Awareness, The Alagille Syndrome Alliance, Autoinflammatory Alliance, Beyond Batten Disease Foundation, Bohring-Opitz Syndrome Foundation, INC, Cockayne Syndrome Network (Share and Care), CRMO Foundation, Cure VCP Disease,INC, FOD Support, Cystinosis Research Foundation, Global DARE Foundation, Hypnic Jerk-Sleep Myoclonus Support Group, Jansen's Foundation, KCNMA1 Channelopathy International Advocacy Foundation, Kawasaki Disease Foundation Australia, Life with LEMS Foundation, Lowe Syndrome Association, The Malan Syndrome Foundation, Maple Syrup Urine Disease Family Support Group, International Association for Muscle Glycogen Storage Disease (IamGSD), Myhre Syndrome Foundation, DNM1 Families, Nicolaides Baraitser Syndrome (NCBRS) Worldwide Foundation, The PBCers Organization, Pitt Hopkins Research Foundation, Recurrent Meningitis Association, Recurrent Respiratory Papillomatosis Foundation, Remember the Girls, Smith-Kingsmore Syndrome Foundation, SPG Research Foundation, Team Telomere, Transient Global Amnesia Project, The Charlotte & Gwenyth Gray Foundation, The Cute Syndrome Foundation, The Maddi Foundation, White Sutton Syndrome Foundation, Zmynd11 Gene Disorder, Cauda Equina Foundation, Inc, Tango2 Research Foundation, Noah's Hope - Hope4Bridget Foundation, Project Sebastian, SMC1A Epilepsy Foundation, International Foundation for Gastrointestinal Disorders, Endosalpingiosis Foundation, Inc, International Sacral Agenesis/Caudal Regression Association (ISACRA), Scheuermann's Disease Fund, Batten Disease Support and Research Association, Kennedy's Disease Association, Cure Mito Foundation, Warburg Micro Research Foundation, Cure Mucolipidosis, Riaan Research Initiative, CureARS A NJ Nonprofit Corporation, CACNA1H Alliance, IMBS Alliance, SHINE-Syndrome Foundaion, Non- Ketotic Hyperglycinemia (NKH) Crusaders, Hypertrophic Olivary Degeneration Association (HODA), National Organization for Disorders of the Corpus Callosum (NODCC), Team4Travis, Taylor's Tale Foundation, Lambert Eaton (LEMS) Family Association, BARE Inc, STAG1 Gene Foundation, Coffin Lowry Syndrome Foundation, BLFS Incorporate, Aniridia North America, Cure Blau Syndrome Foundation, ARG1D Foundation, CURE HSPB8 Myopathy, International Society of Mannosidosis and Related Disorders, TBX4Life, Cure DHDDS, MANDKind Foundation, Krishnan Family Foundation, SPATA Foundation

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

12/00

12/00