Hypertonia

Symptom Information:

Symptom ID: HPO:0001276
Synonyms:
Hypertonicity [HPO:0001276]
Increased muscle tone [HPO:0001276]
Muscle hypertonia [HPO:0001276]
Increased muscle tone (finding) [Orphanet:43340]
Muscular hypertonicity (disorder) [Orphanet:43340]
Hypertonicity [Orphanet:43340]
Muscle Hypertonia [Orphanet:43340]
Hypertonia [OMIM:Hypertonia]
Hypertonicity [OMIM:Hypertonicity]
Increased muscle tone [OMIM:Increased muscle tone]
Hypertonia/spasticity/rigidity/stiffness [Orphanet:43340]
Hypertonia [Orphanet:43340]
Hypertonia [MedDRA:10020852]
Generally increased tone [MedDRA:10020852]
Hypertonicity [MedDRA:10020852]
Hypertonus [MedDRA:10020852]
Increased muscle tone [MedDRA:10020852]
Muscular tone excessive [MedDRA:10020852]
Muscular tone increased [MedDRA:10020852]
Muscular tonus increased [MedDRA:10020852]
Tone increased [MedDRA:10020852]
Hypertonia (after age 2 years) [OMIM:Hypertonia (after age 2 years)]
Hypertonia (childhood) [OMIM:Hypertonia (childhood)]
Hypertonia (in lower limbs) [OMIM:Hypertonia (in lower limbs)]
Hypertonia (in some patients) [OMIM:Hypertonia (in some patients)]
Hypertonia (in some patients)) [OMIM:Hypertonia (in some patients))]
Hypertonia (older children and adolescents) [OMIM:Hypertonia (older children and adolescents)]
Hypertonia (type II) [OMIM:Hypertonia (type II)]
Hypertonicity (uncommon) [OMIM:Hypertonicity (uncommon)]
Increased muscle tone (early in life) [OMIM:Increased muscle tone (early in life)]
Increased muscle tone (less common) [OMIM:Increased muscle tone (less common)]
Increased tone [OMIM:Increased tone]
Quality:
Cross references:
Orphanet:43340 "Hypertonia/spasticity/rigidity/stiffness" [Orphanet:43340]
OMIM: "Hypertonia" [OMIM:Hypertonia]
OMIM: "Hypertonicity" [OMIM:Hypertonicity]
OMIM: "Increased muscle tone" [OMIM:Increased muscle tone]
OMIM: "Hypertonia (after age 2 years)" [OMIM:Hypertonia (after age 2 years)]
OMIM: "Hypertonia (childhood)" [OMIM:Hypertonia (childhood)]
OMIM: "Hypertonia (in lower limbs)" [OMIM:Hypertonia (in lower limbs)]
OMIM: "Hypertonia (in some patients)" [OMIM:Hypertonia (in some patients)]
OMIM: "Hypertonia (in some patients))" [OMIM:Hypertonia (in some patients))]
OMIM: "Hypertonia (older children and adolescents)" [OMIM:Hypertonia (older children and adolescents)]
OMIM: "Hypertonia (type II)" [OMIM:Hypertonia (type II)]
OMIM: "Hypertonicity (uncommon)" [OMIM:Hypertonicity (uncommon)]
OMIM: "Increased muscle tone (early in life)" [OMIM:Increased muscle tone (early in life)]
OMIM: "Increased muscle tone (less common)" [OMIM:Increased muscle tone (less common)]
OMIM: "Increased tone" [OMIM:Increased tone]
UMLS:C0235396 "Hypertonicity" [Orphanet:43340]
UMLS:C0026826 "Muscle Hypertonia" [Orphanet:43340]
Is a (Direct Parents):
HPO         Abnormal pyramidal signs
Orphanet Spasticity
MedDRA Muscle tone abnormalities
Orphanet [DEL]Motor deficit/trouble
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 central motor function(HPO:0011442)
                Abnormal pyramidal signs(HPO:0007256)
                   Hypertonia(HPO:0001276)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Muscle disorders(MedDRA:10028302)
       Muscle tone abnormalities(MedDRA:10028343)
          Hypertonia(HPO:0001276)
Database Frequency: 317 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
16p13.11 microdeletion syndrome (Orphanet:261236)
1q21.1 microduplication syndrome (Orphanet:250994)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
3-methylglutaconic aciduria type 4 (Orphanet:67048)
3-phosphoglycerate dehydrogenase deficiency (Orphanet:79351)
3-phosphoserine phosphatase deficiency (Orphanet:79350)
6-pyruvoyl-tetrahydropterin synthase deficiency (Orphanet:13)
6q25 microdeletion syndrome (Orphanet:251056)
ALG3-CDG (Orphanet:79321)
Aceruloplasminemia (Orphanet:48818)
Acetazolamide-responsive myotonia (Orphanet:99736)
Acro-cardio-facial syndrome (Orphanet:2008)
Adams-Oliver syndrome (Orphanet:974)
Adenylosuccinate lyase deficiency (Orphanet:46)
Adult polyglucosan body disease (Orphanet:206583)
Adult-onset autosomal dominant leukodystrophy (Orphanet:99027)
Aicardi syndrome (Orphanet:50)
Aicardi-Goutières syndrome (Orphanet:51)
Alexander disease (Orphanet:58)
Alpers syndrome (Orphanet:726)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-N-acetylgalactosaminidase deficiency type 1 (Orphanet:79279)
Amelo-cerebro-hypohidrotic syndrome (Orphanet:1946)
Amish lethal microcephaly (Orphanet:99742)
Arachnodactyly - intellectual deficit - dysmorphism (Orphanet:1130)
Argininemia (Orphanet:90)
Arthrogryposis - hyperkeratosis, lethal form (Orphanet:1485)
Ataxia with vitamin E deficiency (Orphanet:96)
Ataxia-telangiectasia (Orphanet:100)
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy (Orphanet:1192)
Attenuated Chédiak-Higashi syndrome (Orphanet:352723)
Atypical Rett syndrome (Orphanet:3095)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (Orphanet:99947)
Autosomal dominant cerebellar ataxia (Orphanet:99)
Autosomal dominant spastic paraplegia type 9 (Orphanet:100990)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 46 (Orphanet:320391)
Autosomal recessive spastic paraplegia type 53 (Orphanet:319199)
Bardet-Biedl syndrome 1 (OMIM:209900 )
Bardet-Biedl syndrome 16 (OMIM:615993)
Behr syndrome (Orphanet:1239)
Benign familial infantile seizures (Orphanet:306)
Benign familial neonatal seizures (Orphanet:1949)
Bilateral frontoparietal polymicrogyria (Orphanet:101070)
Biotinidase deficiency (Orphanet:79241)
Bird headed-dwarfism, Montreal type (Orphanet:2617)
Bonnemann-Meinecke-Reich syndrome (Orphanet:1261)
CADASIL (Orphanet:136)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 (OMIM:603513)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
COFS syndrome (Orphanet:1466)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Canavan disease (Orphanet:141)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cataract - ataxia - deafness (Orphanet:1368)
Cataract-congenital heart disease-neural tube defect syndrome (Orphanet:314993)
Central nervous system calcification - deafness - tubular acidosis - anemia (Orphanet:3240)
Cerebro-reno-digital syndrome (Orphanet:1396)
Cerebrotendinous xanthomatosis (Orphanet:909)
Chédiak-Higashi syndrome (Orphanet:167)
Classic maple syrup urine disease (Orphanet:268145)
Classical phenylketonuria (Orphanet:79254)
Cocaine embryofetopathy (Orphanet:1911)
Cockayne syndrome (Orphanet:191)
Coffin-Lowry syndrome (Orphanet:192)
Combined oxidative phosphorylation defect type 4 (Orphanet:254925)
Congenital ichthyosis - intellectual deficit - spastic quadriplegia (Orphanet:352333)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Congenital myopathy with excess of thin filaments (Orphanet:98904)
Congenital rubella syndrome (Orphanet:290)
Congenital unilateral hypoplasia of depressor anguli oris (Orphanet:1166)
Corneal-cerebellar syndrome (Orphanet:3177)
Cornelia de Lange syndrome (Orphanet:199)
Cortical blindness - intellectual deficit - polydactyly (Orphanet:1389)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Deaf blind hypopigmentation syndrome, Yemenite type (Orphanet:3214)
Dehydratase deficiency (Orphanet:1578)
Desmosterolosis (Orphanet:35107)
Dihydropteridine reductase deficiency (Orphanet:226)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Distal hereditary motor neuropathy type 1 (Orphanet:139518)
Distal monosomy 13q (Orphanet:1590)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 7q36 (Orphanet:1636)
Distal trisomy 15q (Orphanet:1707)
Dopa-responsive dystonia (Orphanet:255)
Dyschromatosis symmetrica hereditaria (Orphanet:41)
Early-onset generalized limb-onset dystonia (Orphanet:256)
Early-onset parkinsonism - intellectual deficit (Orphanet:2379)
Edinburgh malformation syndrome (Orphanet:1895)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Encephalopathy due to GLUT1 deficiency (Orphanet:71277)
Encephalopathy due to hydroxykynureninuria (Orphanet:79155)
Encephalopathy due to sulfite oxidase deficiency (Orphanet:833)
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome (Orphanet:319678)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Familial acute necrotizing encephalopathy (Orphanet:88619)
Familial dementia, British type (Orphanet:97345)
Familial hemophagocytic lymphohistiocytosis (Orphanet:540)
Familial lambdoid synostosis (Orphanet:3267)
Fetal Gaucher disease (Orphanet:85212)
Fetal brain disruption sequence (Orphanet:1665)
Fetal iodine syndrome (Orphanet:1910)
Fragile X-associated tremor/ataxia syndrome (Orphanet:93256)
Free sialic acid storage disease (Orphanet:834)
Fucosidosis (Orphanet:349)
GM1 gangliosidosis (Orphanet:354)
GM2-gangliosidosis, AB variant (Orphanet:309246)
Galloway-Mowat syndrome (Orphanet:2065)
Gaucher disease - ophthalmoplegia - cardiovascular calcification (Orphanet:2072)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Griscelli disease (Orphanet:381)
Griscelli disease type 1 (Orphanet:79476)
Griscelli disease type 2 (Orphanet:79477)
Grix-Blankenship-Peterson syndrome (Orphanet:2099)
Guanidinoacetate methyltransferase deficiency (Orphanet:382)
Gómez-López-Hernández syndrome (Orphanet:1532)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 (OMIM:267700)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
HYPEREKPLEXIA 2 (OMIM:614619)
HYPEREKPLEXIA 3 (OMIM:614618)
HYPEREKPLEXIA, HEREDITARY 1 (OMIM:149400)
Hartnup syndrome (Orphanet:2116)
Hepatic fibrosis - renal cysts - intellectual deficit (Orphanet:2031)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hereditary continuous muscle fiber activity (Orphanet:972)
Hereditary hyperekplexia (Orphanet:3197)
Hereditary motor and sensory neuropathy type 5 (Orphanet:64751)
Hereditary sensory and autonomic neuropathy with spastic paraplegia (Orphanet:139578)
Hereditary spastic paraplegia (Orphanet:685)
Holocarboxylase synthetase deficiency (Orphanet:79242)
Holoprosencephaly (Orphanet:2162)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Huntington disease (Orphanet:399)
Hydrocephalus with stenosis of aqueduct of Sylvius (Orphanet:2182)
Hyperekplexia - epilepsy (Orphanet:163985)
Hyperkalemic periodic paralysis (Orphanet:682)
Incontinentia pigmenti (Orphanet:464)
Infantile Refsum disease (Orphanet:772)
Infantile axonal neuropathy (Orphanet:2679)
Infantile dystonia-parkinsonism (Orphanet:238455)
Infantile epileptic-dyskinetic encephalopathy (Orphanet:364063)
Infantile symmetrical thalamic degeneration (Orphanet:3311)
Infantile thalamic degeneration (Orphanet:1577)
Infantile-onset ascending hereditary spastic paralysis (Orphanet:293168)
Intellectual deficit - athetosis - microphthalmia (Orphanet:1236)
Intellectual deficit - hypoplastic corpus callosum - preauricular tag (Orphanet:1495)
Intellectual deficit - spasticity - ectrodactyly (Orphanet:1891)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Intellectual deficit, X-linked, Brooks type (Orphanet:3056)
Intellectual deficit, X-linked, Pai type (Orphanet:85322)
Intermittent maple syrup urine disease (Orphanet:268173)
Isolated 3-methylcrotonyl-CoA carboxylase deficiency (Orphanet:6)
Isolated cerebellar hypoplasia/agenesis (Orphanet:1398)
Isolated spina bifida (Orphanet:823)
Isolated sulfite oxidase deficiency (Orphanet:99731)
Juvenile amyotrophic lateral sclerosis (Orphanet:300605)
Juvenile primary lateral sclerosis (Orphanet:247604)
KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Keratoderma hereditarium mutilans with ichthyosis (Orphanet:79395)
Krabbe disease (Orphanet:487)
L-2-hydroxyglutaric aciduria (Orphanet:79314)
L1 syndrome (Orphanet:275543)
Laryngeal abductor paralysis - intellectual deficit (Orphanet:2375)
Leigh syndrome (Orphanet:506)
Lesch-Nyhan syndrome (Orphanet:510)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
Leukoencephalopathy-palmoplantar keratoderma syndrome (Orphanet:2386)
Lissencephaly type 1 due to doublecortin gene mutation (Orphanet:2148)
Locked-in syndrome (Orphanet:2406)
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 (OMIM:154276)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
MEHMO syndrome (Orphanet:85282)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS (OMIM:604317)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (OMIM:615501)
MPDU1-CDG (Orphanet:79323)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MUSCULAR HYPERTONIA, LETHAL (OMIM:254120)
Macrocephaly - short stature - paraplegia (Orphanet:2427)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
Marinesco-Sjögren syndrome (Orphanet:559)
Maternal hyperthermia induced birth defects (Orphanet:2216)
McLeod neuroacanthocytosis syndrome (Orphanet:59306)
Menkes disease (Orphanet:565)
Metachromatic leukodystrophy (Orphanet:512)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Micro syndrome (Orphanet:2510)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephalic primordial dwarfism due to ZNF335 deficiency (Orphanet:329228)
Microcephaly - brachydactyly - kyphoscoliosis (Orphanet:3433)
Microcephaly - brain defect - spasticity - hypernatremia (Orphanet:2523)
Microcephaly - intellectual deficit - phalangeal and neurological anomalies (Orphanet:137658)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microcephaly-microcornea syndrome, Seemanova type (Orphanet:2528)
Microlissencephaly (Orphanet:1083)
Microlissencephaly - micromelia (Orphanet:50810)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Mucopolysaccharidosis type 3 (Orphanet:581)
Muscle-eye-brain disease (Orphanet:588)
Myotonia fluctuans (Orphanet:99734)
Myotonia permanens (Orphanet:99735)
N syndrome (Orphanet:2608)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Nasu-Hakola disease (Orphanet:2770)
Nemaline myopathy (Orphanet:607)
Neonatal hemochromatosis (Orphanet:446)
Neuhauser-Eichner-Opitz syndrome (Orphanet:2672)
Neuroectodermal melanolysosomal disease (Orphanet:33445)
Neuroferritinopathy (Orphanet:157846)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Neuronal intranuclear inclusion disease (Orphanet:2289)
Night blindness - skeletal anomalies - dysmorphism (Orphanet:1390)
Non-polyposis Turcot syndrome (Orphanet:99817)
Norrie disease (Orphanet:649)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculo-reno-cerebellar syndrome (Orphanet:2715)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculodentodigital dysplasia (Orphanet:2710)
Olivopontocerebellar atrophy - deafness (Orphanet:2732)
Orofaciodigital syndrome type 3 (Orphanet:2752)
Otofaciocervical syndrome (Orphanet:2792)
Oxoglutaricaciduria (Orphanet:31)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
Palmoplantar keratoderma-spastic paralysis syndrome (Orphanet:2201)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Papilloma of choroid plexus (Orphanet:2807)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Paraplegia - intellectual deficit - hyperkeratosis (Orphanet:2824)
Pelizaeus-Merzbacher disease (Orphanet:702)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Pfeiffer-Palm-Teller syndrome (Orphanet:2871)
Phosphoserine aminotransferase deficiency (Orphanet:284417)
Pontocerebellar hypoplasia type 1 (Orphanet:2254)
Porencephaly (Orphanet:2940)
Potassium-aggravated myotonia (Orphanet:612)
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome (Orphanet:276432)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
Pseudoprogeria syndrome (Orphanet:2985)
Purine nucleoside phosphorylase deficiency (Orphanet:760)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Pyruvate dehydrogenase deficiency (Orphanet:765)
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Recessive hereditary methemoglobinemia type 1 (Orphanet:139373)
Recessive hereditary methemoglobinemia type 2 (Orphanet:139380)
Recombinant 8 syndrome (Orphanet:96167)
Renpenning syndrome (Orphanet:3242)
Retinopathy - anemia- central nervous system anomalies (Orphanet:3088)
Rett syndrome (Orphanet:778)
Richards-Rundle syndrome (Orphanet:1399)
SEIZURES, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE (OMIM:269720)
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Scheie syndrome (Orphanet:93474)
Schinzel-Giedion syndrome (Orphanet:798)
Schizencephaly (Orphanet:799)
Schwartz-Jampel syndrome (Orphanet:800)
Severe Canavan disease (Orphanet:314911)
Severe X-linked intellectual deficit, Gustavson type (Orphanet:3078)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Short stature - wormian bones - dextrocardia (Orphanet:2863)
Sjögren-Larsson syndrome (Orphanet:816)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spastic ataxia - corneal dystrophy (Orphanet:2572)
Spastic ataxia with congenital miosis (Orphanet:1182)
Spastic paraparesis - deafness (Orphanet:2815)
Spastic paraplegia - facial-cutaneous lesions (Orphanet:2819)
Spastic paraplegia - glaucoma - intellectual deficit (Orphanet:2818)
Spastic paraplegia - nephritis - deafness (Orphanet:2820)
Spastic paraplegia - neuropathy - poikiloderma (Orphanet:2821)
Spastic paraplegia type 2 (Orphanet:99015)
Spasticity - intellectual deficit - X-linked epilepsy (Orphanet:3175)
Steinert myotonic dystrophy (Orphanet:273)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (Orphanet:308393)
Symmetrical thalamic calcifications (Orphanet:1314)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
Tay-Sachs disease (Orphanet:845)
Tetrasomy 12p (Orphanet:884)
Tetrasomy 18p (Orphanet:3307)
Thiamine-responsive maple syrup urine disease (Orphanet:268184)
Trisomy 17p (Orphanet:261290)
Trisomy 18 (Orphanet:3380)
Typhoid (Orphanet:99745)
Tyrosinemia type 1 (Orphanet:882)
W syndrome (Orphanet:2804)
WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Waardenburg syndrome type 3 (Orphanet:896)
Weaver syndrome (Orphanet:3447)
Weaver-Williams syndrome (Orphanet:3448)
Williams syndrome (Orphanet:904)
Wolcott-Rallison syndrome (Orphanet:1667)
X-linked Charcot-Marie-Tooth disease type 3 (Orphanet:101077)
X-linked complicated corpus callosum dysgenesis (Orphanet:1497)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked immunoneurologic disorder (Orphanet:2571)
X-linked intellectual deficit, Golabi-Ito-Hall type (Orphanet:93947)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
X-linked neurodegenerative syndrome, Hamel type (Orphanet:85336)
Xeroderma pigmentosum (Orphanet:910)
Xeroderma pigmentosum/Cockayne syndrome complex (Orphanet:220295)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)