Gait disturbance
Symptom Information:
Symptom ID: | HPO:0001288 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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) |
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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) |