Dysphagia

Symptom Information:

Symptom ID: HPO:0002015
Synonyms:
Deglutition disorder [HPO:0002015]
Poor swallowing [HPO:0002015]
Swallowing difficulties [HPO:0002015]
Swallowing difficulty [HPO:0002015]
Difficulty swallowing [HPO:0002015]
Difficulty swallowing (finding) [Orphanet:27030]
Dysphagia (disorder) [Orphanet:27030]
Deglutition Disorders [Orphanet:27030]
Dysphagia [OMIM:Dysphagia]
Poor swallowing [OMIM:Poor swallowing]
Swallowing difficulties [OMIM:Swallowing difficulties]
Swallowing difficulty [OMIM:Swallowing difficulty]
Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia [Orphanet:27030]
Dysphagia [Orphanet:27030]
Dysphagia [MedDRA:10013950]
Deglutition disorder [MedDRA:10013950]
Disorder deglutition [MedDRA:10013950]
Swallowing difficult [MedDRA:10013950]
Swallowing disorder [MedDRA:10013950]
Swallowing impaired [MedDRA:10013950]
Swallowing spasm [MedDRA:10013950]
Dysphagia aggravated [MedDRA:10013950]
Difficulty swallowing [OMIM:Difficulty swallowing]
Dysphagia (1 patient) [OMIM:Dysphagia (1 patient)]
Dysphagia (in some patients) [OMIM:Dysphagia (in some patients)]
Dysphagia (less common) [OMIM:Dysphagia (less common)]
Dysphagia (onset in second decade) [OMIM:Dysphagia (onset in second decade)]
Dysphagia (rare) [OMIM:Dysphagia (rare)]
Swallowing difficulties (dysphagia) [OMIM:Swallowing difficulties (dysphagia)]
Swallowing difficulties (in some patients) [OMIM:Swallowing difficulties (in some patients)]
Swallowing difficulties (rare) [OMIM:Swallowing difficulties (rare)]
Dyskinesia oesophageal [MedDRA:10013924]
Esophageal motility disorder [Orphanet:27030]
Esophageal dysmotility (disorder) [Orphanet:27030]
Esophageal motility disorders [Orphanet:27030]
Esophageal spasm [Orphanet:27030]
Esophageal dysmotility [OMIM:Esophageal dysmotility]
Quality:
Cross references:
Orphanet:27030 "Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia" [Orphanet:27030]
OMIM: "Dysphagia" [OMIM:Dysphagia]
OMIM: "Poor swallowing" [OMIM:Poor swallowing]
OMIM: "Swallowing difficulties" [OMIM:Swallowing difficulties]
OMIM: "Swallowing difficulty" [OMIM:Swallowing difficulty]
OMIM: "Difficulty swallowing" [OMIM:Difficulty swallowing]
OMIM: "Dysphagia (1 patient)" [OMIM:Dysphagia (1 patient)]
OMIM: "Dysphagia (in some patients)" [OMIM:Dysphagia (in some patients)]
OMIM: "Dysphagia (less common)" [OMIM:Dysphagia (less common)]
OMIM: "Dysphagia (onset in second decade)" [OMIM:Dysphagia (onset in second decade)]
OMIM: "Dysphagia (rare)" [OMIM:Dysphagia (rare)]
OMIM: "Swallowing difficulties (dysphagia)" [OMIM:Swallowing difficulties (dysphagia)]
OMIM: "Swallowing difficulties (in some patients)" [OMIM:Swallowing difficulties (in some patients)]
OMIM: "Swallowing difficulties (rare)" [OMIM:Swallowing difficulties (rare)]
OMIM: "Esophageal dysmotility" [OMIM:Esophageal dysmotility]
UMLS:C0011168 "Dysphagia" [HPO:0002015]
UMLS:C0011168 "Deglutition Disorders" [Orphanet:27030]
UMLS:C0014858 "Esophageal motility disorders" [Orphanet:27030]
UMLS:C0014863 "Esophageal spasm" [Orphanet:27030]
Is a (Direct Parents):
Orphanet Functional anomalies of the digestive system
HPO         Abnormality of nervous system physiology
MedDRA Gastrointestinal signs and symptoms NEC
HPO         Abnormality of the esophagus
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system physiology(HPO:0012638)
             Dysphagia(HPO:0002015)
       Abnormality of the abdomen(HPO:0001438)
          Abnormality of the abdominal organs(HPO:0002012)
             Abnormality of the gastrointestinal tract(HPO:0011024)
                Abnormality of the esophagus(HPO:0002031)
                   Dysphagia(HPO:0002015)
MedDRA:
Gastrointestinal disorders(MedDRA:10017947)
    Gastrointestinal signs and symptoms(MedDRA:10018012)
       Gastrointestinal signs and symptoms NEC(MedDRA:10027678)
          Dysphagia(HPO:0002015)
Database Frequency: 301 / 7739
Resource:

All diseases associated with this symptom:

16p13.11 microdeletion syndrome (Orphanet:261236)
16q24.3 microdeletion syndrome (Orphanet:261250)
1p36 deletion syndrome (Orphanet:1606)
22q11.2 deletion syndrome (Orphanet:567)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
48,XXYY syndrome (Orphanet:10)
6-pyruvoyl-tetrahydropterin synthase deficiency (Orphanet:13)
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
ALZHEIMER DISEASE 3 (OMIM:607822)
AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:612069)
AMYOTROPHIC LATERAL SCLEROSIS 12 (OMIM:613435)
AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
AMYOTROPHIC LATERAL SCLEROSIS 17 (OMIM:614696)
AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
Acetazolamide-responsive myotonia (Orphanet:99736)
Action myoclonus - renal failure syndrome (Orphanet:163696)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Adult-onset autosomal dominant leukodystrophy (Orphanet:99027)
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (Orphanet:329314)
Alexander disease (Orphanet:58)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alport syndrome (Orphanet:63)
Antisynthetase syndrome (Orphanet:81)
Aortic arch defects (Orphanet:1132)
Arnold-Chiari malformation type I (Orphanet:268882)
Arnold-Chiari malformation type II (Orphanet:1136)
Autosomal dominant Charcot-Marie-Tooth disease type 2J (Orphanet:99943)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant limb-girdle muscular dystrophy type 1D (Orphanet:34516)
Autosomal dominant progressive external ophthalmoplegia (Orphanet:254892)
Autosomal dominant spastic ataxia 1 (Orphanet:251282)
Autosomal dominant spastic paraplegia type 31 (Orphanet:101011)
Autosomal dominant spastic paraplegia type 4 (Orphanet:100985)
Autosomal recessive cerebellar ataxia - psychomotor retardation (Orphanet:284271)
Autosomal recessive limb-girdle muscular dystrophy type 2E (Orphanet:119)
Autosomal recessive progressive external ophthalmoplegia (Orphanet:254886)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 21 (Orphanet:101001)
Autosomal recessive spastic paraplegia type 54 (Orphanet:320380)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Behr syndrome (Orphanet:1239)
Beta-mannosidosis (Orphanet:118)
Beta-thalassemia major (Orphanet:231214)
Biotin-responsive basal ganglia disease (Orphanet:65284)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Botulism (Orphanet:1267)
CADASIL (Orphanet:136)
CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY (OMIM:607674)
CHARGE syndrome (Orphanet:138)
COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
CREST syndrome (Orphanet:90290)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Caffey disease (Orphanet:1310)
Camurati-Engelmann disease (Orphanet:1328)
Canavan disease (Orphanet:141)
Cap myopathy (Orphanet:171881)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carney-Stratakis syndrome (Orphanet:97286)
Cherubism (Orphanet:184)
Choreoacanthocytosis (Orphanet:2388)
Christianson syndrome (Orphanet:85278)
Chronic mucocutaneous candidiasis (Orphanet:1334)
Classic galactosemia (Orphanet:79239)
Classical progressive supranuclear palsy (Orphanet:240071)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Combined oxidative phosphorylation defect type 13 (Orphanet:319514)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Congenital fiber-type disproportion myopathy (Orphanet:2020)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Congenital myopathy with excess of thin filaments (Orphanet:98904)
Costello syndrome (Orphanet:3071)
Craniofacial dysplasia-osteopenia syndrome (Orphanet:314555)
Cronkhite-Canada syndrome (Orphanet:2930)
Cystinosis (Orphanet:213)
DYSTONIA WITH CEREBELLAR ATROPHY (OMIM:611694)
Dermatomyositis (Orphanet:221)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Diffuse cutaneous systemic sclerosis (Orphanet:220393)
Dihydropteridine reductase deficiency (Orphanet:226)
Distal myopathy with vocal cord weakness (Orphanet:600)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Dystonia 16 (Orphanet:210571)
Dystrophic epidermolysis bullosa (Orphanet:303)
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME (OMIM:616029)
ESOPHAGEAL RING, LOWER (OMIM:133240)
ESOPHAGITIS, EOSINOPHILIC, 1 (OMIM:610247)
ESOPHAGITIS, EOSINOPHILIC, 2 (OMIM:613412)
Early infantile epileptic encephalopathy (Orphanet:1934)
Early-onset spastic ataxia-neuropathy syndrome (Orphanet:313772)
Ectodermal dysplasia syndrome (Orphanet:79373)
Encephalopathy due to sulfite oxidase deficiency (Orphanet:833)
Eosinophilic esophagitis (Orphanet:73247)
Eosinophilic granulomatosis with polyangiitis (Orphanet:183)
Epidermolysis bullosa simplex with pyloric atresia (Orphanet:158684)
Epidermolysis bullosa simplex, Dowling-Meara type (Orphanet:79396)
Esophageal adenocarcinoma (Orphanet:99976)
Esophageal carcinoma (Orphanet:70482)
Esophageal squamous cell carcinoma (Orphanet:99977)
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
FAZIO-LONDE DISEASE (OMIM:211500)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Facioscapulohumeral dystrophy (Orphanet:269)
Familial visceral myopathy (Orphanet:2604)
Fatal familial insomnia (Orphanet:466)
Fetal Gaucher disease (Orphanet:85212)
Foodborne botulism (Orphanet:228371)
Fragile X-associated tremor/ataxia syndrome (Orphanet:93256)
Friedreich ataxia 1 (OMIM:229300)
GTP cyclohydrolase I deficiency (Orphanet:2102)
Galactose epimerase deficiency (Orphanet:79238)
Gamma heavy-chain disease (Orphanet:100026)
Gastrointestinal stromal tumor (Orphanet:44890)
Gaucher disease (Orphanet:355)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Generalized congenital lipodystrophy with myopathy (Orphanet:228429)
Generalized dominant dystrophic epidermolysis bullosa (Orphanet:231568)
Genitopatellar syndrome (Orphanet:85201)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
Glycogen storage disease due to acid maltase deficiency, infantile onset (Orphanet:308552)
Glycogen storage disease due to acid maltase deficiency, late-onset (Orphanet:420429)
Good syndrome (Orphanet:169105)
HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,AND PALLIDAL DEGENERATION (OMIM:607236)
Hereditary cerebral hemorrhage with amyloidosis, Iowa type (Orphanet:324708)
Hereditary myoclonus - progressive distal muscular atrophy (Orphanet:2590)
Huntington disease (Orphanet:399)
Hyperkalemic periodic paralysis (Orphanet:682)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
Iatrogenic botulism (Orphanet:254509)
Inclusion body myositis (Orphanet:611)
Infant botulism (Orphanet:178478)
Infantile epileptic-dyskinetic encephalopathy (Orphanet:364063)
Infantile hypophosphatasia (Orphanet:247651)
Infantile-onset ascending hereditary spastic paralysis (Orphanet:293168)
Intellectual deficit - alacrima - achalasia (Orphanet:289483)
Intellectual deficit, Birk-Barel type (Orphanet:166108)
Intestinal botulism (Orphanet:178481)
Isolated polycystic liver disease (Orphanet:2924)
Jeune syndrome (Orphanet:474)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome with hepatic defect (Orphanet:1454)
Juvenile amyotrophic lateral sclerosis (Orphanet:300605)
Juvenile dermatomyositis (Orphanet:93672)
Juvenile primary lateral sclerosis (Orphanet:247604)
Kennedy disease (Orphanet:481)
Kindler syndrome (Orphanet:2908)
Koolen-De Vries syndrome (Orphanet:96169)
LEBER OPTIC ATROPHY AND DYSTONIA (OMIM:500001)
LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME (OMIM:308940)
LESCH-NYHAN SYNDROME (OMIM:300322)
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/ORHYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA (OMIM:608809)
LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Laryngeal abductor paralysis (Orphanet:2808)
Leigh syndrome (Orphanet:506)
Leigh syndrome with leukodystrophy (Orphanet:255241)
Leprechaunism (Orphanet:508)
Lesch-Nyhan syndrome (Orphanet:510)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Leukoencephalopathy - ataxia - hypodontia - hypomyelination (Orphanet:137639)
Limited cutaneous systemic sclerosis (Orphanet:220402)
Limited systemic sclerosis (Orphanet:220407)
Lipoid proteinosis (Orphanet:530)
Locked-in syndrome (Orphanet:2406)
Lyell syndrome (Orphanet:537)
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY (OMIM:606369)
MELAS (Orphanet:550)
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
MOYAMOYA DISEASE 6 WITH ACHALASIA (OMIM:615750)
MYASTHENIA GRAVIS (OMIM:254200)
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL (OMIM:616321)
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616323)
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL (OMIM:605809)
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:608931)
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Maffucci syndrome (Orphanet:163634)
McLeod neuroacanthocytosis syndrome (Orphanet:59306)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Menkes disease (Orphanet:565)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Moebius syndrome (Orphanet:570)
Mohr-Tranebjaerg syndrome (Orphanet:52368)
Monosomy 9q22.3 (Orphanet:77301)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 (OMIM:613561)
Myotonia fluctuans (Orphanet:99734)
Myotonia permanens (Orphanet:99735)
NEMALINE MYOPATHY 1 (OMIM:609284)
NEMALINE MYOPATHY 2 (OMIM:256030)
NEMALINE MYOPATHY 8 (OMIM:615348)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Nemaline myopathy (Orphanet:607)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Orphanet:457185)
Neurodegeneration with brain iron accumulation due to C19orf12 mutation (Orphanet:289560)
Neuroferritinopathy (Orphanet:157846)
Neurofibromatosis - Noonan syndrome (Orphanet:638)
Niemann-Pick disease type C (Orphanet:646)
Noonan syndrome (Orphanet:648)
Occipital horn syndrome (Orphanet:198)
Oculocerebrorenal syndrome (Orphanet:534)
Oculofaciocardiodental syndrome (Orphanet:2712)
Oculopharyngeal muscular dystrophy (Orphanet:270)
Oculopharyngodistal myopathy (Orphanet:98897)
Odontoleukodystrophy (Orphanet:77295)
Odontomatosis - aortae esophagus stenosis (Orphanet:2724)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Opitz G/BBB syndrome (Orphanet:2745)
PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 (OMIM:118800)
PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 (OMIM:157640)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 (OMIM:609286)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5 (OMIM:613077)
Palmoplantar keratoderma-esophageal carcinoma syndrome (Orphanet:2198)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Paroxysmal non-kinesigenic dyskinesia (Orphanet:98810)
Pediatric systemic sclerosis (Orphanet:93567)
Pemphigus vulgaris (Orphanet:704)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Pontine tegmental cap dysplasia (Orphanet:269229)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Potassium-aggravated myotonia (Orphanet:612)
Presynaptic congenital myasthenic syndromes (Orphanet:98914)
Primary dystonia, DYT2 type (Orphanet:99657)
Primary dystonia, DYT4 type (Orphanet:98805)
Primary lateral sclerosis (Orphanet:35689)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Pyruvate dehydrogenase phosphatase deficiency (Orphanet:79246)
Rapid-onset dystonia-parkinsonism (Orphanet:71517)
Recessive dystrophic epidermolysis bullosa inversa (Orphanet:79409)
Recessive dystrophic epidermolysis bullosa-generalized other (Orphanet:89842)
Reynolds syndrome (Orphanet:779)
Riboflavin transporter deficiency (Orphanet:97229)
SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 (OMIM:606002)
STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
SUPRANUCLEAR PALSY, PROGRESSIVE, 2 (OMIM:609454)
Sanfilippo syndrome type C (Orphanet:79271)
Sanfilippo syndrome type D (Orphanet:79272)
Schwartz-Jampel syndrome (Orphanet:800)
Scleroderma (Orphanet:801)
Severe Canavan disease (Orphanet:314911)
Severe generalized recessive dystrophic epidermolysis bullosa (Orphanet:79408)
Spasticity - intellectual deficit - X-linked epilepsy (Orphanet:3175)
Spheroid body myopathy (Orphanet:268129)
Spinocerebellar ataxia type 1 (Orphanet:98755)
Spinocerebellar ataxia type 10 (Orphanet:98761)
Spinocerebellar ataxia type 14 (Orphanet:98763)
Spinocerebellar ataxia type 17 (Orphanet:98759)
Spinocerebellar ataxia type 19/22 (Orphanet:98772)
Spinocerebellar ataxia type 2 (Orphanet:98756)
Spinocerebellar ataxia type 3 (Orphanet:98757)
Spinocerebellar ataxia type 6 (Orphanet:98758)
Spinocerebellar ataxia type 7 (Orphanet:94147)
Spinocerebellar ataxia type 8 (Orphanet:98760)
Spinocerebellar ataxia with axonal neuropathy type 2 (Orphanet:64753)
Steinert myotonic dystrophy (Orphanet:273)
Stevens-Johnson syndrome (Orphanet:36426)
Sturge-Weber syndrome (Orphanet:3205)
Stüve-Wiedemann syndrome (Orphanet:3206)
Synaptic congenital myasthenic syndromes (Orphanet:98915)
Systemic sclerosis (Orphanet:90291)
Thiamine-responsive encephalopathy (Orphanet:199348)
Thymic tumor (Orphanet:100100)
Thymoma (Orphanet:99867)
Timothy syndrome (Orphanet:65283)
Toxin-mediated infectious botulism (Orphanet:230800)
Trismus - pseudocamptodactyly (Orphanet:3377)
VACUOLAR NEUROMYOPATHY (OMIM:601846)
Vitamin B12-unresponsive methylmalonic acidemia type mut- (Orphanet:79312)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wilson disease (Orphanet:905)
Wolfram syndrome (Orphanet:3463)
Wolfram syndrome 1 (OMIM:222300)
Wound botulism (Orphanet:178475)
X-linked Charcot-Marie-Tooth disease type 1 (Orphanet:101075)
X-linked Opitz G/BBB syndrome (Orphanet:306597)
X-linked spinocerebellar ataxia type 3 (Orphanet:85297)
Young adult-onset Parkinsonism (Orphanet:2828)
Zellweger syndrome (Orphanet:912)
[DEL] SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)