Motor delay
Symptom Information:
Symptom ID: | HPO:0001270 | ||||||||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | |||||||||||||||||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): | |||||||||||||||||||||||||||||||||||||
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 higher mental function(HPO:0011446) Cognitive impairment(HPO:0100543) Global developmental delay(HPO:0001263) Motor delay(HPO:0001270) MedDRA: |
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Database Frequency: | 322 / 7739 | ||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
2-aminoadipic 2-oxoadipic aciduria | (Orphanet:79154) |
2-methylbutyryl-CoA dehydrogenase deficiency | (Orphanet:79157) |
2q23.1 microdeletion syndrome | (Orphanet:228402) |
3-methylglutaconic aciduria type 1 | (Orphanet:67046) |
3-methylglutaconic aciduria type 3 | (Orphanet:67047) |
3-methylglutaconic aciduria type 4 | (Orphanet:67048) |
4-hydroxybutyric aciduria | (Orphanet:22) |
48,XXYY syndrome | (Orphanet:10) |
5q14.3 microdeletion syndrome | (Orphanet:228384) |
6-pyruvoyl-tetrahydropterin synthase deficiency | (Orphanet:13) |
ADAMS-OLIVER SYNDROME 3 | (OMIM:614814) |
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES | (OMIM:300887) |
Achondroplasia | (Orphanet:15) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Alpha-mannosidosis | (Orphanet:61) |
Alström syndrome | (Orphanet:64) |
Angelman syndrome | (Orphanet:72) |
Antenatal multiminicore disease with arthrogryposis multiplex congenita | (Orphanet:178148) |
Argininemia | (Orphanet:90) |
Argininosuccinic aciduria | (Orphanet:23) |
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | (Orphanet:308410) |
Autosomal dominant Charcot-Marie-Tooth disease type 2E | (Orphanet:99939) |
Autosomal dominant Charcot-Marie-Tooth disease type 2O | (Orphanet:284232) |
Autosomal dominant centronuclear myopathy | (Orphanet:169189) |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | (Orphanet:363454) |
Autosomal dominant nonsyndromic intellectual deficit | (Orphanet:178469) |
Autosomal dominant spastic paraplegia type 3 | (Orphanet:100984) |
Autosomal recessive centronuclear myopathy | (Orphanet:169186) |
Autosomal recessive cutis laxa type 2, classic type | (Orphanet:357074) |
Autosomal recessive cutis laxa type 2A | (Orphanet:357058) |
Autosomal recessive dopa-responsive dystonia | (Orphanet:101150) |
Autosomal recessive limb-girdle muscular dystrophy type 2K | (Orphanet:86812) |
Autosomal recessive limb-girdle muscular dystrophy type 2M | (Orphanet:206554) |
Autosomal recessive limb-girdle muscular dystrophy type 2N | (Orphanet:206559) |
Autosomal recessive limb-girdle muscular dystrophy type 2O | (Orphanet:206564) |
Autosomal recessive limb-girdle muscular dystrophy type 2Q | (Orphanet:254361) |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | (Orphanet:331176) |
Autosomal recessive spastic paraplegia type 20 | (Orphanet:101000) |
Autosomal recessive spastic paraplegia type 21 | (Orphanet:101001) |
Autosomal recessive spastic paraplegia type 45 | (Orphanet:320396) |
Autosomal recessive spastic paraplegia type 56 | (Orphanet:320411) |
BARTTER SYNDROME, TYPE 4A | (OMIM:602522) |
BARTTER SYNDROME, TYPE 4B | (OMIM:613090) |
BRUNNER SYNDROME | (OMIM:300615) |
Bangstad syndrome | (Orphanet:1227) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 10 | (OMIM:615987) |
Bardet-Biedl syndrome 13 | (OMIM:615990) |
Bardet-Biedl syndrome 2 | (OMIM:615981) |
Bardet-Biedl syndrome 3 | (OMIM:600151) |
Bardet-Biedl syndrome 6 | (OMIM:605231) |
Bardet-Biedl syndrome 7 | (OMIM:615984) |
Barth syndrome | (Orphanet:111) |
Benign familial chorea | (Orphanet:1429) |
Benign familial neonatal seizures | (Orphanet:1949) |
Benign paroxysmal tonic upgaze of childhood with ataxia | (Orphanet:1179) |
Berardinelli-Seip congenital lipodystrophy | (Orphanet:528) |
Bethlem myopathy | (Orphanet:610) |
Bilateral frontal polymicrogyria | (Orphanet:208444) |
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency | (Orphanet:329255) |
Bloom syndrome | (Orphanet:125) |
Brain-lung-thyroid syndrome | (Orphanet:209905) |
CADASIL | (Orphanet:136) |
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA | (OMIM:616007) |
CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE | (OMIM:605388) |
CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE | (OMIM:118230) |
CHOREA, BENIGN HEREDITARY | (OMIM:118700) |
CYCLIC VOMITING SYNDROME | (OMIM:500007) |
CYSTINOSIS, NEPHROPATHIC | (OMIM:219800) |
Cap myopathy | (Orphanet:171881) |
Carbamoylphosphate synthetase deficiency | (Orphanet:147) |
Central core disease | (Orphanet:597) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Charcot-Marie-Tooth disease type 1F | (Orphanet:101085) |
Charcot-Marie-Tooth disease type 4A | (Orphanet:99948) |
Charcot-Marie-Tooth disease type 4B1 | (Orphanet:99955) |
Charcot-Marie-Tooth disease type 4C | (Orphanet:99949) |
Charcot-Marie-Tooth disease type 4E | (Orphanet:99951) |
Charcot-Marie-Tooth disease type 4F | (Orphanet:99952) |
Charcot-Marie-Tooth disease type 4H | (Orphanet:99954) |
Charcot-Marie-Tooth disease type 4J | (Orphanet:139515) |
Citrullinemia type I | (Orphanet:247525) |
Classic maple syrup urine disease | (Orphanet:268145) |
Classic multiminicore myopathy | (Orphanet:324604) |
Classical phenylketonuria | (Orphanet:79254) |
Cohen syndrome | (Orphanet:193) |
Combined oxidative phosphorylation defect type 8 | (Orphanet:319504) |
Congenital cataracts - facial dysmorphism - neuropathy | (Orphanet:48431) |
Congenital contractural arachnodactyly | (Orphanet:115) |
Congenital heart block | (Orphanet:60041) |
Congenital lactic acidosis, Saguenay-Lac-St. Jean type | (Orphanet:70472) |
Congenital multicore myopathy with external ophthalmoplegia | (Orphanet:98905) |
Congenital muscular dystrophy due to LMNA mutation | (Orphanet:157973) |
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect | (Orphanet:280671) |
Congenital muscular dystrophy type 1A | (Orphanet:258) |
Congenital muscular dystrophy type 1B | (Orphanet:98893) |
Congenital muscular dystrophy with integrin alpha-7 deficiency | (Orphanet:34520) |
Congenital muscular dystrophy, Ullrich type | (Orphanet:75840) |
Congenital myasthenic syndromes with glycosylation defect | (Orphanet:353327) |
Congenital myopathy with excess of thin filaments | (Orphanet:98904) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
Costello syndrome | (Orphanet:3071) |
Cystinosis | (Orphanet:213) |
DEAFNESS, AUTOSOMAL RECESSIVE 84A | (OMIM:613391) |
DEND syndrome | (Orphanet:79134) |
DESBUQUOIS DYSPLASIA 1 | (OMIM:251450) |
Dehydratase deficiency | (Orphanet:1578) |
Dejerine-Sottas syndrome | (Orphanet:64748) |
Dent disease type 2 | (Orphanet:93623) |
Desbuquois syndrome | (Orphanet:1425) |
Desmin-related myopathy with Mallory body-like inclusions | (Orphanet:84132) |
Dihydropteridine reductase deficiency | (Orphanet:226) |
Dihydropyrimidine dehydrogenase deficiency | (Orphanet:1675) |
Dilated cardiomyopathy with ataxia | (Orphanet:66634) |
Distal monosomy 6p | (Orphanet:96125) |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | (Orphanet:70594) |
Dravet syndrome | (Orphanet:33069) |
Duchenne muscular dystrophy | (Orphanet:98896) |
Dystonia 16 | (Orphanet:210571) |
EDINBURGH MALFORMATION SYNDROME | (OMIM:129850) |
Early-onset X-linked optic atrophy | (Orphanet:98890) |
Early-onset myopathy with fatal cardiomyopathy | (Orphanet:289377) |
Ehlers-Danlos syndrome, dermatosparaxis type | (Orphanet:1901) |
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | (Orphanet:300179) |
Ehlers-Danlos syndrome, kyphoscoliotic type | (Orphanet:1900) |
Ehlers-Danlos syndrome, musculocontractural type | (Orphanet:2953) |
Familial dyskinesia and facial myokymia | (Orphanet:324588) |
Familial hyperthyroidism due to mutations in TSH receptor | (Orphanet:424) |
Farber lipogranulomatosis | (Orphanet:333) |
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | (Orphanet:168566) |
Frank-Ter Haar syndrome | (Orphanet:137834) |
GLYCOGEN STORAGE DISEASE IXc | (OMIM:613027) |
GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY | (OMIM:608278) |
GTP cyclohydrolase I deficiency | (Orphanet:2102) |
Gaucher disease type 2 | (Orphanet:77260) |
Gaucher disease type 3 | (Orphanet:77261) |
Glycogen storage disease due to GLUT2 deficiency | (Orphanet:2088) |
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 glycogen debranching enzyme deficiency | (Orphanet:366) |
Glycogen storage disease due to liver phosphorylase kinase deficiency | (Orphanet:264580) |
Goldblatt syndrome | (Orphanet:166272) |
Gorlin syndrome | (Orphanet:377) |
Growth delay due to insulin-like growth factor I resistance | (Orphanet:73273) |
Growth delay due to insulin-like growth factor type 1 deficiency | (Orphanet:73272) |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | (Orphanet:137681) |
Hereditary fructose intolerance | (Orphanet:469) |
Hermansky-Pudlak syndrome with neutropenia | (Orphanet:183678) |
Histidinemia | (Orphanet:2157) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hyperlysinemia due to defect in lysine transport into mitochondria | (OMIM:238710) |
Hyperlysinemia, type I | (OMIM:238700) |
Hyperornithinemia-hyperammonemia-homocitrullinuria | (Orphanet:415) |
Hypocalcemic vitamin D-dependent rickets | (Orphanet:289157) |
Hypocalcemic vitamin D-resistant rickets | (Orphanet:93160) |
Hypomyelination - congenital cataract | (Orphanet:85163) |
Hypomyelination with atrophy of basal ganglia and cerebellum | (Orphanet:139441) |
Hypomyelination with brain stem and spinal cord involvement and leg spasticity | (Orphanet:363412) |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 | (OMIM:614069) |
Infantile Bartter syndrome with deafness | (Orphanet:89938) |
Infantile hypophosphatasia | (Orphanet:247651) |
Infantile onset spinocerebellar ataxia | (Orphanet:1186) |
Infantile-onset ascending hereditary spastic paralysis | (Orphanet:293168) |
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia | (Orphanet:284332) |
Intellectual deficit - alacrima - achalasia | (Orphanet:289483) |
Intellectual deficit, X-linked, Wilson type | (Orphanet:85290) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
Joubert syndrome 3 | (OMIM:608629) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
KAHRIZI SYNDROME | (OMIM:612713) |
KETOADIPICACIDURIA | (OMIM:245130) |
Kniest dysplasia | (Orphanet:485) |
Kostmann syndrome | (Orphanet:99749) |
LESCH-NYHAN SYNDROME | (OMIM:300322) |
LICHTENSTEIN-KNORR SYNDROME | (OMIM:616291) |
LISSENCEPHALY 6 WITH MICROCEPHALY | (OMIM:616212) |
Larsen-like syndrome, B3GAT3 type | (Orphanet:284139) |
Leigh syndrome | (Orphanet:506) |
Leprechaunism | (Orphanet:508) |
Lesch-Nyhan syndrome | (Orphanet:510) |
Lethal ataxia with deafness and optic atrophy | (Orphanet:1187) |
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation | (Orphanet:137898) |
Lissencephaly due to TUBA1A mutation | (Orphanet:171680) |
Lissencephaly type 1 due to doublecortin gene mutation | (Orphanet:2148) |
Lymphangioleiomyomatosis | (Orphanet:538) |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 | (OMIM:604004) |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | (OMIM:613925) |
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,WITH OR WITHOUT MENTAL RETARDATION | (OMIM:613926) |
MEGDEL syndrome | (Orphanet:352328) |
MEIER-GORLIN SYNDROME 5 | (OMIM:613805) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 | (OMIM:616078) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | (OMIM:612621) |
MENTAL RETARDATION, X-LINKED 19 | (OMIM:300844) |
MERRF | (Orphanet:551) |
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:608716) |
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM | (OMIM:616033) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
MITOCHONDRIAL MYOPATHY | (OMIM:251900) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5 | (OMIM:613153) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 | (OMIM:613156) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3 | (OMIM:613151) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 | (OMIM:608840) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),TYPE B, 4 | (OMIM:613152) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | (OMIM:616094) |
MYASTHENIC SYNDROME, CONGENITAL, 12 | (OMIM:610542) |
MYASTHENIC SYNDROME, CONGENITAL, 13 | (OMIM:614750) |
MYASTHENIC SYNDROME, CONGENITAL, 14 | (OMIM:616228) |
MYASTHENIC SYNDROME, CONGENITAL, 16 | (OMIM:614198) |
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL | (OMIM:608930) |
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:608931) |
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET | (OMIM:614399) |
MYOPATHY, CENTRONUCLEAR, 1 | (OMIM:160150) |
MYOPATHY, CENTRONUCLEAR, 5 | (OMIM:615959) |
Maple syrup urine disease | (Orphanet:511) |
Marshall-Smith syndrome | (Orphanet:561) |
Maternal hyperphenylalaninemia | (Orphanet:2209) |
Megalencephalic leukoencephalopathy with subcortical cysts | (Orphanet:2478) |
Menkes disease | (Orphanet:565) |
Metaphyseal chondrodysplasia, Kaitila type | (Orphanet:166038) |
Metaphyseal chondrodysplasia, Spahr type | (Orphanet:2501) |
Microcephaly - seizures - developmental delay | (Orphanet:228418) |
Miller-Dieker syndrome | (Orphanet:531) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | (Orphanet:314637) |
Mitochondrial myopathy and sideroblastic anemia | (Orphanet:2598) |
Mitochondrial trifunctional protein deficiency | (Orphanet:746) |
Moderate multiminicore disease with hand involvement | (Orphanet:178145) |
Moebius syndrome | (Orphanet:570) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 22q13 | (Orphanet:48652) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Multiple acyl-CoA dehydrogenase deficiency | (Orphanet:26791) |
Myopathy and diabetes mellitus | (Orphanet:2596) |
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 | (OMIM:600462) |
NARP syndrome | (Orphanet:644) |
NEMALINE MYOPATHY 2 | (OMIM:256030) |
NEMALINE MYOPATHY 4 | (OMIM:609285) |
NEMALINE MYOPATHY 7 | (OMIM:610687) |
NEMALINE MYOPATHY 9 | (OMIM:615731) |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII | (OMIM:615548) |
NIEMANN-PICK DISEASE, TYPE C1 | (OMIM:257220) |
NIEMANN-PICK DISEASE, TYPE C2 | (OMIM:607625) |
Nemaline myopathy | (Orphanet:607) |
Neurodegeneration with brain iron accumulation due to C19orf12 mutation | (Orphanet:289560) |
Niemann-Pick disease type A | (Orphanet:77292) |
Niemann-Pick disease type C | (Orphanet:646) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
OPITZ-KAVEGGIA SYNDROME | (OMIM:305450) |
OSTEOGENESIS IMPERFECTA, TYPE XII | (OMIM:613849) |
OTOONYCHOPERONEAL SYNDROME | (OMIM:259780) |
Oculofaciocardiodental syndrome | (Orphanet:2712) |
Ornithine transcarbamylase deficiency | (Orphanet:664) |
Osteodysplasty, Melnick-Needles type | (Orphanet:2484) |
PALANT CLEFT PALATE SYNDROME | (OMIM:260150) |
PLEOCONIAL MYOPATHY WITH SALT CRAVING | (OMIM:262900) |
POLYENDOCRINE-POLYNEUROPATHY SYNDROME | (OMIM:616113) |
PORETTI-BOLTSHAUSER SYNDROME | (OMIM:615960) |
Pancreatic hypoplasia - diabetes - congenital heart disease | (Orphanet:2255) |
Partial acquired lipodystrophy | (Orphanet:79087) |
Pelizaeus-Merzbacher-like due to GJC2 mutation | (Orphanet:280282) |
Permanent neonatal diabetes mellitus | (Orphanet:99885) |
Perrault Syndrome | (Orphanet:2855) |
Perrault Syndrome 1 | (OMIM:233400) |
Phosphoribosylpyrophosphate synthetase superactivity | (Orphanet:3222) |
Pitt-Hopkins syndrome | (Orphanet:2896) |
Polymicrogyria due to TUBB2B mutation | (Orphanet:300573) |
Prader-Willi syndrome | (Orphanet:739) |
Primary Fanconi syndrome | (Orphanet:3337) |
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | (Orphanet:306558) |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency | (Orphanet:88618) |
Purine nucleoside phosphorylase deficiency | (Orphanet:760) |
Pyruvate carboxylase deficiency | (Orphanet:3008) |
Pyruvate dehydrogenase E1-alpha deficiency | (Orphanet:79243) |
Pyruvate dehydrogenase lipoic acid synthetase deficiency | (OMIM:614462) |
RETT SYNDROME, CONGENITAL VARIANT | (OMIM:613454) |
RIENHOFF SYNDROME | (OMIM:615582) |
Rabson-Mendenhall syndrome | (Orphanet:769) |
Renal cysts and diabetes syndrome | (Orphanet:93111) |
Rigid spine syndrome | (Orphanet:97244) |
Roussy-Lévy syndrome | (Orphanet:3115) |
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY | (OMIM:181405) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 | (OMIM:615705) |
SRD5A3-CDG | (Orphanet:324737) |
STRIATONIGRAL DEGENERATION, INFANTILE | (OMIM:271930) |
STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL | (OMIM:500003) |
Saccharopinuria | (Orphanet:3124) |
Sanfilippo syndrome type C | (Orphanet:79271) |
Schimke immuno-osseous dysplasia | (Orphanet:1830) |
Senior-Boichis syndrome | (Orphanet:84081) |
Spastic paraplegia-optic atrophy-neuropathy syndrome | (Orphanet:320406) |
Spinocerebellar ataxia type 13 | (Orphanet:98768) |
Spinocerebellar ataxia type 29 | (Orphanet:208513) |
Sporadic Leigh syndrome | (Orphanet:255199) |
Steinert myotonic dystrophy | (Orphanet:273) |
TREACHER COLLINS SYNDROME 2 | (OMIM:613717) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Thrombocytopenia - absent radius | (Orphanet:3320) |
Tyrosinemia type 2 | (Orphanet:28378) |
USHER SYNDROME, TYPE I | (OMIM:276900) |
USHER SYNDROME, TYPE IF | (OMIM:602083) |
USHER SYNDROME, TYPE IJ | (OMIM:614869) |
USHER SYNDROME, TYPE IK | (OMIM:614990) |
Usher syndrome type 1 | (Orphanet:231169) |
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A | (OMIM:264700) |
VITAMIN D-DEPENDENT RICKETS, TYPE 2A | (OMIM:277440) |
Vici syndrome | (Orphanet:1493) |
Wilson-Turner syndrome | (Orphanet:3459) |
Wolcott-Rallison syndrome | (Orphanet:1667) |
Wolfram syndrome | (Orphanet:3463) |
Wolfram syndrome 1 | (OMIM:222300) |
Wolfram syndrome, mitochondrial form | (OMIM:598500) |
Woodhouse-Sakati syndrome | (Orphanet:3464) |
X-linked Charcot-Marie-Tooth disease type 1 | (Orphanet:101075) |
X-linked Charcot-Marie-Tooth disease type 5 | (Orphanet:99014) |
X-linked creatine transporter deficiency | (Orphanet:52503) |
X-linked intellectual disability, Hedera type | (Orphanet:93952) |
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome | (Orphanet:85295) |
X-linked non progressive cerebellar ataxia | (Orphanet:314978) |
X-linked progressive cerebellar ataxia | (Orphanet:1175) |
[DEL] LEIGH SYNDROME, X-LINKED | (OMIM:308930) |
[DEL] SENGERS SYNDROME | (OMIM:212350) |