Rare DisordersUndiagnosed DisordersDisorders of Unknown PrevalenceCornelia De Lange SyndromePrenatal Benign HypophosphatasiaPerinatal Lethal HypophosphatasiaOdontohypophosphatasiaAdult HypophosphatasiaChildhood-onset HypophosphatasiaInfantile HypophosphatasiaHypophosphatasiaKabuki SyndromeBohring-Opitz SyndromeNarcolepsy Without CataplexyNarcolepsy-cataplexyHypersomnolence DisorderIdiopathic Hypersomnia Without Long Sleep TimeIdiopathic Hypersomnia With Long Sleep TimeIdiopathic HypersomniaKleine-Levin SyndromeKawasaki DiseaseLeiomyosarcomaLeiomyosarcoma of the Corpus UteriLeiomyosarcoma of the Cervix UteriLeiomyosarcoma of Small IntestineAcquired Myasthenia GravisAddison DiseaseHyperacusis (Hyperacousis)Juvenile Myasthenia GravisTransient Neonatal Myasthenia GravisWilliams SyndromeLyme DiseaseMyasthenia GravisMarinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)Isolated Klippel-Feil SyndromeFrasier SyndromeDenys-Drash SyndromeBeckwith-Wiedemann SyndromeEmanuel SyndromeIsolated AniridiaAxenfeld-Rieger SyndromeAniridia-intellectual Disability SyndromeAniridia - Renal Agenesis - Psychomotor RetardationAniridia - Ptosis - Intellectual Disability - Familial ObesityAniridia - Cerebellar Ataxia - Intellectual DisabilityAniridia - Absent PatellaAniridiaPeters Anomaly - CataractPeters AnomalyPotocki-Shaffer SyndromeSilver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11Silver-Russell Syndrome Due to Imprinting Defect of 11p15Silver-Russell Syndrome Due to 11p15 MicroduplicationSyndromic AniridiaWAGR SyndromeWolf-Hirschhorn Syndrome4p16.3 Microduplication Syndrome4p Deletion Syndrome, Non-Wolf-Hirschhorn SyndromeAutosomal Recessive Stickler SyndromeStickler Syndrome Type 2Stickler Syndrome Type 1Stickler SyndromeMucolipidosis Type 4X-linked Spinocerebellar Ataxia Type 4X-linked Spinocerebellar Ataxia Type 3X-linked Intellectual Disability - Ataxia - ApraxiaX-linked Progressive Cerebellar AtaxiaX-linked Non Progressive Cerebellar AtaxiaX-linked Cerebellar AtaxiaVitamin B12 Deficiency AtaxiaToxic Exposure AtaxiaUnclassified Autosomal Dominant Spinocerebellar AtaxiaThyroid Antibody AtaxiaSporadic Adult-onset Ataxia of Unknown EtiologySpinocerebellar Ataxia With Oculomotor AnomalySpinocerebellar Ataxia With EpilepsySpinocerebellar Ataxia With Axonal Neuropathy Type 2Spinocerebellar Ataxia Type 8Spinocerebellar Ataxia Type 7Spinocerebellar Ataxia Type 6Spinocerebellar Ataxia Type 5Spinocerebellar Ataxia Type 4Spinocerebellar Ataxia Type 37Spinocerebellar Ataxia Type 36Spinocerebellar Ataxia Type 35Spinocerebellar Ataxia Type 34Spinocerebellar Ataxia Type 32Spinocerebellar Ataxia Type 31Spinocerebellar Ataxia Type 30Spinocerebellar Ataxia Type 3Spinocerebellar Ataxia Type 29Spinocerebellar Ataxia Type 28Spinocerebellar Ataxia Type 27Spinocerebellar Ataxia Type 26Spinocerebellar Ataxia Type 25Spinocerebellar Ataxia Type 23Spinocerebellar Ataxia Type 22Spinocerebellar Ataxia Type 21Spinocerebellar Ataxia Type 20Spinocerebellar Ataxia Type 2Spinocerebellar Ataxia Type 19/22Spinocerebellar Ataxia Type 18Spinocerebellar Ataxia Type 17Spinocerebellar Ataxia Type 16Spinocerebellar Ataxia Type 15/16Spinocerebellar Ataxia Type 14Spinocerebellar Ataxia Type 13Spinocerebellar Ataxia Type 12Spinocerebellar Ataxia Type 11Spinocerebellar Ataxia Type 10Spinocerebellar Ataxia Type 1 With Axonal NeuropathySpinocerebellar Ataxia Type 1Spinocerebellar Ataxia - UnknownSpinocerebellar Ataxia - DysmorphismNon Progressive Epilepsy and/or Ataxia With Myoclonus as a Major FeatureSpasticity-ataxia-gait Anomalies SyndromeSpastic Ataxia With Congenital MiosisSpastic Ataxia - Corneal DystrophySpastic AtaxiaRare Hereditary AtaxiaRare AtaxiaRecessive Mitochondrial Ataxia SyndromeProgressive Epilepsy and/or Ataxia With Myoclonus as a Major FeaturePosterior Column Ataxia - Retinitis PigmentosaPost-Stroke AtaxiaPost-Head Injury AtaxiaPost Vaccination AtaxiaPolyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - CataractMuscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes MellitusNon-hereditary Degenerative AtaxiaParoxysmal Dystonic Choreathetosis With Episodic Ataxia and SpasticityOlivopontocerebellar Atrophy - DeafnessNARP SyndromeMyoclonus - Cerebellar Ataxia - DeafnessMultiple System Atrophy, Parkinsonian TypeMultiple System Atrophy, Cerebellar TypeMultiple System AtrophyMaternally-inherited Leigh SyndromeMachado-Joseph Disease Type 3Machado-Joseph Disease Type 2Machado-Joseph Disease Type 1Leigh SyndromeLate-onset Ataxia With DementiaInfection or Post Infection AtaxiaGAD AtaxiaHereditary Episodic AtaxiaGliadin/Gluten AtaxiaFriedreich AtaxiaFragile X-associated Tremor/Ataxia SyndromeFamilial Paroxysmal AtaxiaExposure to Medications AtaxiaEpisodic Ataxia With Slurred SpeechEpisodic Ataxia Unknown TypeEpisodic Ataxia Type 7Episodic Ataxia Type 6Episodic Ataxia Type 5Episodic Ataxia Type 4Episodic Ataxia Type 3Episodic Ataxia Type 1Epilepsy and/or Ataxia With Myoclonus as Major FeatureEarly-onset Spastic Ataxia-neuropathy SyndromeEarly-onset Progressive Neurodegeneration - Blindness - Ataxia - SpasticityEarly-onset Cerebellar Ataxia With Retained Tendon ReflexesEarly-onset Ataxia With DementiaChildhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar AtaxiaDilated Cardiomyopathy With AtaxiaCataract - Ataxia - DeafnessCerebellar Ataxia, Cayman TypeCerebellar Ataxia With Peripheral NeuropathyCerebellar Ataxia - HypogonadismCerebellar Ataxia - Ectodermal DysplasiaCerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing LossBrain Tumor AtaxiaBrachydactyly - Nystagmus - Cerebellar AtaxiaBenign Paroxysmal Tonic Upgaze of Childhood With AtaxiaAutosomal Recessive Syndromic Cerebellar AtaxiaAutosomal Recessive Spastic Ataxia With LeukoencephalopathyAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayAutosomal Recessive Spastic Ataxia - Optic Atrophy - DysarthriaAutosomal Recessive Spastic AtaxiaAutosomal Recessive Metabolic Cerebellar AtaxiaAutosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode PolyglutamineAutosomal Recessive Ataxia, Beauce TypeAutosomal Recessive Ataxia Due to Ubiquinone DeficiencyAutosomal Recessive Ataxia Due to PEX10 DeficiencyAutosomal Recessive Degenerative and Progressive Cerebellar AtaxiaAutosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 DeficiencyAutosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 DeficiencyAutosomal Recessive Congenital Cerebellar AtaxiaAutosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia SyndromeAutosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX DeficiencyAutosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD DeficiencyAutosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 DeficiencyAutosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability SyndromeAutosomal Recessive Cerebellar Ataxia With Late-onset SpasticityAutosomal Recessive Cerebellar Ataxia Due to STUB1 DeficiencyAutosomal Recessive Cerebellar Ataxia Due to a DNA Repair DefectAutosomal Recessive Cerebellar Ataxia - Saccadic IntrusionAutosomal Recessive Cerebellar Ataxia - Psychomotor RetardationAutosomal Recessive Cerebellar Ataxia - Blindness - DeafnessAutosomal Recessive Cerebellar AtaxiaAutosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine AnomalyAutosomal Dominant Spinocerebellar Ataxia Due to a Point MutationAutosomal Dominant Spinocerebellar Ataxia Due to a ChannelopathyAutosomal Dominant Spastic Ataxia Type 1Autosomal Dominant Spastic AtaxiaAutosomal Dominant Optic AtrophyAtaxia-telangiectasia VariantAtaxia-telangiectasiaAutosomal Dominant Cerebellar Ataxia, Deafness and NarcolepsyAutosomal Dominant Cerebellar Ataxia Type 4Autosomal Dominant Cerebellar Ataxia Type 3Autosomal Dominant Cerebellar Ataxia Type 2Autosomal Dominant Cerebellar Ataxia Type 1Autosomal Dominant Cerebellar AtaxiaAtaxia-telangiectasia-like DisorderAtaxia With Vitamin E DeficiencyAtaxia With DementiaAtaxia - Oculomotor Apraxia Type 1Ataxia - OtherAtaxia - Genetic Diagnosis - UnknownAcquired AtaxiaAdult-onset Autosomal Recessive Cerebellar AtaxiaAlcohol Related AtaxiaMultiple Endocrine NeoplasiaMultiple Endocrine Neoplasia Type IIMultiple Endocrine Neoplasia Type 1Multiple Endocrine Neoplasia Type 2Multiple Endocrine Neoplasia, Type IVMultiple Endocrine Neoplasia, Type 3Multiple Endocrine Neoplasia (MEN) SyndromeMultiple Endocrine Neoplasia Type 2BMultiple Endocrine Neoplasia Type 2AAtypical Hemolytic Uremic SyndromeAtypical HUSWiedemann-Steiner SyndromeBreast Implant-Associated Anaplastic Large Cell LymphomaAutoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA)Hemophagocytic LymphohistiocytosisBehcet's DiseaseAlagille SyndromeInclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)Lowe SyndromePitt Hopkins Syndrome1p36 Deletion SyndromeJansen Type Metaphyseal ChondrodysplasiaCockayne SyndromeChronic Recurrent Multifocal OsteomyelitisCRMOMalan SyndromeHereditary Sensory and Autonomic Neuropathy Type IeVCP DiseaseHypnic JerkingSleep MyoclonusMollaret MeningitisRecurrent Viral MeningitisCRB1Leber Congenital AmaurosisRetinitis PigmentosaRare Retinal DisorderKCNMA1-ChannelopathyPrimary Biliary CirrhosisZMYND11Transient Global AmnesiaGlycogen Storage DiseaseAlstrom SyndromeWhite Sutton SyndromeDNM1EIEE31Myhre SyndromeRecurrent Respiratory PapillomatosisLaryngeal PapillomatosisTracheal PapillomatosisRefsum DiseaseNicolaides Baraitser SyndromeLeukodystrophyTango2Cauda Equina SyndromeRare Gastrointestinal DisordersAchalasia-Addisonian SyndromeAchalasia CardiaAchalasia Icrocephaly SyndromeAnal FistulaCongenital Sucrase-Isomaltase DeficiencyEosinophilic GastroenteritisIdiopathic GastroparesisHirschsprung DiseaseRare Inflammatory Bowel DiseaseIntestinal Pseudo-ObstructionSclerodermaShort Bowel SyndromeSacral AgenesisSacral Agenesis SyndromeCaudal RegressionScheuermann DiseaseSMC1A Truncated Mutations (Causing Loss of Gene Function)CystinosisJuvenile Nephropathic CystinosisNephropathic CystinosisKennedy DiseaseSpinal Bulbar Muscular AtrophyWarburg Micro SyndromeMucolipidosesMitochondrial DiseasesMitochondrial Aminoacyl-tRNA SynthetasesMt-aaRS DisordersHypertrophic Olivary DegenerationNon-Ketotic HyperglycinemiaFish Odor SyndromeHalitosisIsolated Congenital AspleniaLambert Eaton (LEMS)Biliary AtresiaSTAG1 Gene MutationCoffin Lowry SyndromeBorjeson-Forssman-Lehman SyndromeBlau SyndromeArginase 1 DeficiencyHSPB8 MyopathyBeta-MannosidosisTBX4 SyndromeDHDDS Gene MutationsMAND-MBD5-Associated Neurodevelopmental DisorderConstitutional Mismatch Repair Deficiency (CMMRD)SPATA5 DisorderSPATA5L1 Related DisorderAcrodysostosisMulti-systematic Smooth Muscle Dysfunction SyndromeCRELD1 (Cysteine Rich With EGF Like Domains 1)GNB1 SyndromePyruvate Dehydrogenase Complex Deficiency DiseaseBeta MannosidosisKbg SyndromeLabrune SyndromeMetachromatic Leukodystrophy (MLD)Moyamoya DiseaseOPHN1 SyndromeOculopharyngeal Muscular Dystrophy (OPMD)TUBB3 MutationWOREE (WWOX-related Epileptic EncephalopathySCAR12Skraban-Deardorff SyndromeHereditary Myopathy With Early Respiratory Failure