Gait disturbance

Symptom Information:

Symptom ID: HPO:0001288
Synonyms:
Abnormal gait [HPO:0001288]
Gait abnormalities [HPO:0001288]
Gait difficulties [HPO:0001288]
Gait disturbances [HPO:0001288]
Impaired gait [HPO:0001288]
Abnormal gait (finding) [Orphanet:43200]
Gait abnormality [Orphanet:43200]
Gait abnormalities [OMIM:Gait abnormalities]
Gait difficulties [OMIM:Gait difficulties]
Gait disturbance [OMIM:Gait disturbance]
Gait disturbances [OMIM:Gait disturbances]
Impaired gait [OMIM:Impaired gait]
Abnormal gait [Orphanet:43200]
Gait disturbance [Orphanet:43200]
Gait disturbance [MedDRA:10017577]
Abnormal gait [MedDRA:10017577]
Abnormality of gait [MedDRA:10017577]
Difficulty in walking [MedDRA:10017577]
Difficulty in walking involving ankle and foot joint [MedDRA:10017577]
Difficulty in walking involving joint of multiple sites [MedDRA:10017577]
Difficulty in walking involving joint of other specified sites [MedDRA:10017577]
Difficulty in walking involving joint of pelvic region and thigh [MedDRA:10017577]
Difficulty in walking involving joint, site unspecified [MedDRA:10017577]
Difficulty in walking involving lower leg joint [MedDRA:10017577]
Disorder gait [MedDRA:10017577]
Dysbasia [MedDRA:10017577]
Gait abnormal [MedDRA:10017577]
Gait abnormal NOS [MedDRA:10017577]
Gait broadened [MedDRA:10017577]
Gait disorder [MedDRA:10017577]
Gait instability [MedDRA:10017577]
Gait shuffling [MedDRA:10017577]
Gait staggering [MedDRA:10017577]
Gait stumbling [MedDRA:10017577]
Gait tripping [MedDRA:10017577]
Gait unsteady [MedDRA:10017577]
Instability gait [MedDRA:10017577]
Staggering [MedDRA:10017577]
Staggering gait [MedDRA:10017577]
Stepping [MedDRA:10017577]
Stumbling [MedDRA:10017577]
Titubation [MedDRA:10017577]
Unsteady gait [MedDRA:10017577]
Walking difficulty [MedDRA:10017577]
Wide-based gait [MedDRA:10017577]
Leg dragging [MedDRA:10017577]
Limping [MedDRA:10017577]
Antalgic gait [MedDRA:10017577]
Waddling gait [MedDRA:10017577]
Steppage gait [MedDRA:10017577]
'Steppage' gait [OMIM:'Steppage' gait]
Abnormal gait (67%) [OMIM:Abnormal gait (67%)]
Abnormal gait (in some patients) [OMIM:Abnormal gait (in some patients)]
Gait abnormalities (in some patients) [OMIM:Gait abnormalities (in some patients)]
Gait abnormalities (less common) [OMIM:Gait abnormalities (less common)]
Gait abnormalities (occurs later) [OMIM:Gait abnormalities (occurs later)]
Gait disorder [OMIM:Gait disorder]
Gait disturbance (ataxia) [OMIM:Gait disturbance (ataxia)]
Gait wide-based [OMIM:Gait wide-based]
Staggering gait [OMIM:Staggering gait]
Stumbling [OMIM:Stumbling]
Walking difficulties [OMIM:Walking difficulties]
Gait disturbances [MedDRA:10017578]
OMIM Peculiar gait (if left untreated) [OMIM, du]
Quality:
Cross references:
Orphanet:43200 "Abnormal gait" [Orphanet:43200]
OMIM: "Gait abnormalities" [OMIM:Gait abnormalities]
OMIM: "Gait difficulties" [OMIM:Gait difficulties]
OMIM: "Gait disturbance" [OMIM:Gait disturbance]
OMIM: "Gait disturbances" [OMIM:Gait disturbances]
OMIM: "Impaired gait" [OMIM:Impaired gait]
OMIM: "'Steppage' gait" [OMIM:'Steppage' gait]
OMIM: "Abnormal gait (67%)" [OMIM:Abnormal gait (67%)]
OMIM: "Abnormal gait (in some patients)" [OMIM:Abnormal gait (in some patients)]
OMIM: "Gait abnormalities (in some patients)" [OMIM:Gait abnormalities (in some patients)]
OMIM: "Gait abnormalities (less common)" [OMIM:Gait abnormalities (less common)]
OMIM: "Gait abnormalities (occurs later)" [OMIM:Gait abnormalities (occurs later)]
OMIM: "Gait disorder" [OMIM:Gait disorder]
OMIM: "Gait disturbance (ataxia)" [OMIM:Gait disturbance (ataxia)]
OMIM: "Gait wide-based" [OMIM:Gait wide-based]
OMIM: "Staggering gait" [OMIM:Staggering gait]
OMIM: "Stumbling" [OMIM:Stumbling]
OMIM: "Walking difficulties" [OMIM:Walking difficulties]
UMLS:C0575081 "Gait abnormality" [Orphanet:43200]
Is a (Direct Parents):
Orphanet [DEL]Motor deficit/trouble
MedDRA General system disorders NEC
HPO         Tip-toe gait
HPO         Abnormality of movement
HPO         Toe walking
MedDRA Neurological signs and symptoms NEC
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)
             Abnormality of movement(HPO:0100022)
                Gait disturbance(HPO:0001288)
MedDRA:
General disorders and administration site conditions(MedDRA:10018065)
    General system disorders NEC(MedDRA:10018073)
       Gait disturbance(HPO:0001288)
Nervous system disorders(MedDRA:10029205)
    Neurological disorders NEC(MedDRA:10029305)
       Neurological signs and symptoms NEC(MedDRA:10029306)
          Gait disturbance(HPO:0001288)
Database Frequency: 318 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
3-methylglutaconic aciduria type 3 (Orphanet:67047)
3q29 microdeletion syndrome (Orphanet:65286)
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
ALZHEIMER DISEASE 3 (OMIM:607822)
AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:608030)
ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED (OMIM:300158)
Acetazolamide-responsive myotonia (Orphanet:99736)
Adult polyglucosan body disease (Orphanet:206583)
Adult-onset autosomal dominant leukodystrophy (Orphanet:99027)
Alexander disease (Orphanet:58)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Argininemia (Orphanet:90)
Arterial calcification, generalized, of infancy, 1 (OMIM:208000)
Arthrogryposis-like syndrome (Orphanet:1149)
Ataxia - oculomotor apraxia type 1 (Orphanet:1168)
Ataxia - pancytopenia (Orphanet:2585)
Ataxia - photosensitivity - short stature (Orphanet:1184)
Ataxia - tapetoretinal degeneration (Orphanet:1178)
Ataxia with vitamin E deficiency (Orphanet:96)
Ataxia-telangiectasia (Orphanet:100)
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy (Orphanet:1192)
Atypical Rett syndrome (Orphanet:3095)
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (Orphanet:99946)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (Orphanet:99947)
Autosomal dominant Charcot-Marie-Tooth disease type 2B (Orphanet:99936)
Autosomal dominant Charcot-Marie-Tooth disease type 2E (Orphanet:99939)
Autosomal dominant Charcot-Marie-Tooth disease type 2F (Orphanet:99940)
Autosomal dominant Charcot-Marie-Tooth disease type 2G (Orphanet:99941)
Autosomal dominant Charcot-Marie-Tooth disease type 2I (Orphanet:99942)
Autosomal dominant Charcot-Marie-Tooth disease type 2J (Orphanet:99943)
Autosomal dominant Charcot-Marie-Tooth disease type 2N (Orphanet:228174)
Autosomal dominant cerebellar ataxia (Orphanet:99)
Autosomal dominant dopa-responsive dystonia (Orphanet:98808)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (Orphanet:100043)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (Orphanet:93114)
Autosomal dominant limb-girdle muscular dystrophy type 1B (Orphanet:264)
Autosomal dominant spastic ataxia 1 (Orphanet:251282)
Autosomal dominant spastic paraplegia type 31 (Orphanet:101011)
Autosomal dominant spastic paraplegia type 4 (Orphanet:100985)
Autosomal dominant spastic paraplegia type 9 (Orphanet:100990)
Autosomal dominant striatal neurodegeneration (Orphanet:228169)
Autosomal recessive Emery-Dreifuss muscular dystrophy (Orphanet:98855)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (Orphanet:217055)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (Orphanet:254334)
Autosomal recessive limb-girdle muscular dystrophy type 2E (Orphanet:119)
Autosomal recessive limb-girdle muscular dystrophy type 2H (Orphanet:1878)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive progressive external ophthalmoplegia (Orphanet:254886)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 18 (Orphanet:209951)
Autosomal recessive spastic paraplegia type 20 (Orphanet:101000)
Autosomal recessive spastic paraplegia type 21 (Orphanet:101001)
Autosomal recessive spastic paraplegia type 35 (Orphanet:171629)
Autosomal recessive spastic paraplegia type 39 (Orphanet:139480)
Autosomal recessive spastic paraplegia type 43 (Orphanet:320370)
Autosomal recessive spastic paraplegia type 45 (Orphanet:320396)
Autosomal recessive spastic paraplegia type 46 (Orphanet:320391)
Autosomal recessive spastic paraplegia type 48 (Orphanet:306511)
Autosomal recessive spastic paraplegia type 53 (Orphanet:319199)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Bardet-Biedl syndrome 12 (OMIM:615989)
Barth syndrome (Orphanet:111)
Behavioral variant of frontotemporal dementia (Orphanet:275864)
Behr syndrome (Orphanet:1239)
Behçet disease (Orphanet:117)
Benign familial chorea (Orphanet:1429)
Bilateral striopallidodentate calcinosis (Orphanet:1980)
Brachyolmia type 1, Toledo type (Orphanet:93303)
Brittle cornea syndrome (Orphanet:90354)
CACH syndrome (Orphanet:135)
CADASIL (Orphanet:136)
CARASIL (Orphanet:199354)
CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY (OMIM:607674)
CHOREOATHETOSIS, FAMILIAL INVERTED (OMIM:118750)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME, TYPE III (OMIM:216411)
Cabezas syndrome (Orphanet:85293)
Camurati-Engelmann disease (Orphanet:1328)
Centronuclear myopathy (Orphanet:595)
Cerebellar ataxia - ectodermal dysplasia (Orphanet:1174)
Charcot-Marie-Tooth disease (Orphanet:166)
Charcot-Marie-Tooth disease type 1A (Orphanet:101081)
Charcot-Marie-Tooth disease type 1B (Orphanet:101082)
Charcot-Marie-Tooth disease type 1D (Orphanet:101084)
Charcot-Marie-Tooth disease type 1E (Orphanet:90658)
Charcot-Marie-Tooth disease type 2B1 (Orphanet:98856)
Charcot-Marie-Tooth disease type 2H (Orphanet:101102)
Charcot-Marie-Tooth disease type 4B2 (Orphanet:99956)
Charcot-Marie-Tooth disease type 4B3 (Orphanet:363981)
Charcot-Marie-Tooth disease type 4D (Orphanet:99950)
Charcot-Marie-Tooth disease type 4J (Orphanet:139515)
Choreoacanthocytosis (Orphanet:2388)
Christianson syndrome (Orphanet:85278)
Chédiak-Higashi syndrome (Orphanet:167)
Cochleosaccular degeneration - cataract (Orphanet:3233)
Coffin-Lowry syndrome (Orphanet:192)
Congenital muscular dystrophy - infantile cataract - hypogonadism (Orphanet:1875)
Congenital muscular dystrophy due to LMNA mutation (Orphanet:157973)
Congenital or early infantile CACH syndrome (Orphanet:157713)
Cree leukoencephalopathy (Orphanet:99854)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
Cystinosis (Orphanet:213)
DYSTONIA 23 (OMIM:614860)
DYSTONIA WITH RINGBINDEN (OMIM:224550)
Deaf blind hypopigmentation syndrome, Yemenite type (Orphanet:3214)
Dejerine-Sottas syndrome (Orphanet:64748)
Distal myopathy, Nonaka type (Orphanet:602)
Distal myopathy, Welander type (Orphanet:603)
Dopa-responsive dystonia (Orphanet:255)
Down syndrome (Orphanet:870)
Duchenne and Becker muscular dystrophy (Orphanet:262)
Dyschromatosis symmetrica hereditaria (Orphanet:41)
Dysequilibrium syndrome (Orphanet:1766)
Dystonia 16 (Orphanet:210571)
EPILEPSY, PROGRESSIVE MYOCLONIC, 5 (OMIM:613832)
Early-onset generalized limb-onset dystonia (Orphanet:256)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ehlers-Danlos syndrome, kyphoscoliotic type (Orphanet:1900)
Emery-Dreifuss muscular dystrophy (Orphanet:261)
Eosinophilic granulomatosis with polyangiitis (Orphanet:183)
Epimetaphyseal skeletal dysplasia (Orphanet:1819)
Erythrokeratodermia - ataxia (Orphanet:1955)
Familial dysautonomia (Orphanet:1764)
Familial progressive vestibulocochlear dysfunction (Orphanet:1767)
Familial symmetric lipomatosis (Orphanet:2398)
Foix-Chavany-Marie syndrome (Orphanet:2048)
Fragile X-associated tremor/ataxia syndrome (Orphanet:93256)
Free sialic acid storage disease (Orphanet:834)
Fried syndrome (Orphanet:85335)
Fucosidosis (Orphanet:349)
GM1 gangliosidosis type 2 (Orphanet:79256)
Gaucher disease type 3 (Orphanet:77261)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Glycogen storage disease due to LAMP-2 deficiency (Orphanet:34587)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
HYDROCEPHALUS, NORMAL-PRESSURE (OMIM:236690)
Hereditary cerebral hemorrhage with amyloidosis, Iowa type (Orphanet:324708)
Hereditary hyperekplexia (Orphanet:3197)
Hereditary motor and sensory neuropathy type 6 (Orphanet:90120)
Hereditary motor and sensory neuropathy, Okinawa type (Orphanet:90117)
Hereditary myoclonus - progressive distal muscular atrophy (Orphanet:2590)
Hereditary sensory and autonomic neuropathy with spastic paraplegia (Orphanet:139578)
Hereditary spastic paraplegia (Orphanet:685)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency (Orphanet:395)
Hurler-Scheie syndrome (Orphanet:93476)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Hydrocephaly - tall stature - joint laxity (Orphanet:2181)
Hyperkalemic periodic paralysis (Orphanet:682)
Hyperlysinemia due to defect in lysine transport into mitochondria (OMIM:238710)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Hypocalcemic vitamin D-resistant rickets (Orphanet:93160)
INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE (OMIM:600737)
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit (Orphanet:2269)
Ichthyosis - hepatosplenomegaly - cerebellar degeneration (Orphanet:2274)
Idiopathic juvenile osteoporosis (Orphanet:85193)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Orphanet:52430)
Incontinentia pigmenti (Orphanet:464)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration (Orphanet:85317)
Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior (Orphanet:85329)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Intellectual deficit, X-linked, Pai type (Orphanet:85322)
Joubert syndrome (Orphanet:475)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Joubert syndrome with renal defect (Orphanet:220497)
Juvenile amyotrophic lateral sclerosis (Orphanet:300605)
Juvenile or adult CACH syndrome (Orphanet:157719)
Juvenile primary lateral sclerosis (Orphanet:247604)
Kallmann syndrome (Orphanet:478)
Kennedy disease (Orphanet:481)
Kniest dysplasia (Orphanet:485)
Krabbe disease (Orphanet:487)
L1 syndrome (Orphanet:275543)
Lafora disease (Orphanet:501)
Laing distal myopathy (Orphanet:59135)
Late infantile CACH syndrome (Orphanet:157716)
Leber plus disease (Orphanet:99718)
Leri pleonosteosis (Orphanet:2900)
Leukoencephalopathy - metaphyseal chondrodysplasia (Orphanet:83629)
MASA syndrome (Orphanet:2466)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 (OMIM:615828)
METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
Maternal hyperphenylalaninemia (Orphanet:2209)
McLeod neuroacanthocytosis syndrome (Orphanet:59306)
Metachromatic leukodystrophy (Orphanet:512)
Metaphyseal chondrodysplasia, Spahr type (Orphanet:2501)
Methylcobalamin deficiency type cblE (Orphanet:2169)
Methylcobalamin deficiency type cblG (Orphanet:2170)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblD (Orphanet:79283)
Mitochondrial DNA deletion syndrome with progressive myopathy (Orphanet:352470)
Moebius syndrome (Orphanet:570)
Mucolipidosis type 4 (Orphanet:578)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 2, attenuated form (Orphanet:217093)
Mucopolysaccharidosis type 4 (Orphanet:582)
Multicentric carpo-tarsal osteolysis with or without nephropathy (Orphanet:2774)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Multiple epiphyseal dysplasia due to collagen 9 anomaly (Orphanet:166002)
Multiple epiphyseal dysplasia type 1 (Orphanet:93308)
Multiple epiphyseal dysplasia type 5 (Orphanet:93311)
Multiple sclerosis - ichthyosis - factor VIII deficiency (Orphanet:3151)
Muscle-eye-brain disease (Orphanet:588)
Muscular pseudohypertrophy - hypothyroidism (Orphanet:2349)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
Myotonia fluctuans (Orphanet:99734)
Myotonia permanens (Orphanet:99735)
NEMALINE MYOPATHY 6 (OMIM:609273)
NEMALINE MYOPATHY 7 (OMIM:610687)
NONAKA MYOPATHY (OMIM:605820)
Nasu-Hakola disease (Orphanet:2770)
Neurodegeneration with brain iron accumulation due to C19orf12 mutation (Orphanet:289560)
Neuroferritinopathy (Orphanet:157846)
Neurofibromatosis type 2 (Orphanet:637)
Niemann-Pick disease type C (Orphanet:646)
Non-distal monosomy 10q (Orphanet:1581)
Non-polyposis Turcot syndrome (Orphanet:99817)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Oculodentodigital dysplasia (Orphanet:2710)
Oculopharyngeal muscular dystrophy (Orphanet:270)
Ornithine transcarbamylase deficiency (Orphanet:664)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteogenesis imperfecta (Orphanet:666)
Ovarioleukodystrophy (Orphanet:99853)
PARALYSIS AGITANS, JUVENILE, OF HUNT (OMIM:168100)
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 (OMIM:609286)
Palmoplantar keratoderma-spastic paralysis syndrome (Orphanet:2201)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Parastremmatic dwarfism (Orphanet:2646)
Parkinsonian-pyramidal syndrome (Orphanet:171695)
Pelizaeus-Merzbacher disease (Orphanet:702)
Pelvic dysplasia - arthrogryposis of lower limbs (Orphanet:2840)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Pili torti - developmental delay - neurological abnormalities (Orphanet:2891)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Polymyositis (Orphanet:732)
Polyneuropathy - intellectual deficit - acromicria - premature menopause (Orphanet:2928)
Potassium-aggravated myotonia (Orphanet:612)
Progressive pseudorheumatoid arthropathy of childhood (Orphanet:1159)
Pseudoachondroplasia (Orphanet:750)
Pseudoprogeria syndrome (Orphanet:2985)
Psychogenic movement disorders (Orphanet:71519)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Radio-ulnar synostosis - intellectual deficit - hypotonia (Orphanet:3270)
Recessive mitochondrial ataxia syndrome (Orphanet:94125)
Rett syndrome (Orphanet:778)
Rheumatic fever (Orphanet:3099)
Richards-Rundle syndrome (Orphanet:1399)
Roussy-Lévy syndrome (Orphanet:3115)
SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS (OMIM:271322)
SPONASTRIME dysplasia (Orphanet:93357)
Scheie syndrome (Orphanet:93474)
Schwartz-Jampel syndrome (Orphanet:800)
Shwachman-Diamond syndrome (Orphanet:811)
Sialidosis type 1 (Orphanet:812)
Smith-Magenis syndrome (Orphanet:819)
Spastic ataxia - corneal dystrophy (Orphanet:2572)
Spastic paraparesis - deafness (Orphanet:2815)
Spastic paraplegia - facial-cutaneous lesions (Orphanet:2819)
Spastic paraplegia - nephritis - deafness (Orphanet:2820)
Spastic paraplegia - precocious puberty (Orphanet:2826)
Spastic paraplegia 33, autosomal dominant (OMIM:610244)
Spastic paraplegia 64, autosomal recessive (OMIM:615683)
Spastic paraplegia type 2 (Orphanet:99015)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondyloepimetaphyseal dysplasia, Shohat type (Orphanet:93352)
Spondylometaphyseal dysplasia (Orphanet:254)
Spondylometaphyseal dysplasia, Kozlowski type (Orphanet:93314)
Spontaneous periodic hypothermia (Orphanet:29822)
Steinert myotonic dystrophy (Orphanet:273)
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (Orphanet:206546)
TENORIO SYNDROME (OMIM:616260)
TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS (OMIM:611808)
TRYPTOPHANURIA WITH DWARFISM (OMIM:276100)
Tetrasomy 18p (Orphanet:3307)
Thoracomelic dysplasia (Orphanet:1803)
Tibial muscular dystrophy (Orphanet:609)
Torg-Winchester syndrome (Orphanet:3460)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
Trisomy 20p (Orphanet:261318)
Trisomy Xq28 (Orphanet:1762)
USHER SYNDROME, TYPE IIIB (OMIM:614504)
Von Hippel-Lindau disease (Orphanet:892)
Weaver-Williams syndrome (Orphanet:3448)
Williams syndrome (Orphanet:904)
Wilson disease (Orphanet:905)
Wilson-Turner syndrome (Orphanet:3459)
Wolcott-Rallison syndrome (Orphanet:1667)
Wolfram syndrome 1 (OMIM:222300)
X-linked Charcot-Marie-Tooth disease type 1 (Orphanet:101075)
X-linked Charcot-Marie-Tooth disease type 2 (Orphanet:101076)
X-linked Charcot-Marie-Tooth disease type 3 (Orphanet:101077)
X-linked Charcot-Marie-Tooth disease type 4 (Orphanet:101078)
X-linked Charcot-Marie-Tooth disease type 5 (Orphanet:99014)
X-linked Emery-Dreifuss muscular dystrophy (Orphanet:98863)
X-linked centronuclear myopathy (Orphanet:596)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked intellectual deficit, Najm type (Orphanet:163937)
Young adult-onset distal hereditary motor neuropathy (Orphanet:314485)