Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Stereotypy |
OMIM:300271 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Smith-Magenis syndrome |
|
Hyperactivity, Stereotypy |
DECIPHER:8 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Babinski sign, Inability to walk, Spastic tetraplegia |
OMIM:616657 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Stereotypy |
OMIM:606053 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Gilles De La Tourette Syndrome |
|
Attention deficit hyperactivity disorder, Phonic tics, Motor tics |
OMIM:137580 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Spasticity |
ORPHA:356996 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618709 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Stereotypy |
OMIM:608631 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... |
OMIM:615924 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Stereotypical body rocking, Recurrent hand flapping, Poor coordination |
OMIM:309548 |
N-Acetylaspartate Deficiency |
|
Unsteady gait, Truncal ataxia, Stereotypy |
OMIM:614063 |
Fraxe Intellectual Disability |
|
Clumsiness, Stereotypical body rocking, Recurrent hand flapping, Hyperactivity |
ORPHA:100973 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Spastic diplegia, Stereotypy |
OMIM:617830 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Falls, Stereotypy, Ataxia |
OMIM:619150 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait |
OMIM:619470 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Stereotypy |
OMIM:239500 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Baker-Gordon Syndrome |
|
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... |
OMIM:618218 |
Autism, Susceptibility To, X-Linked 3 |
|
Stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Stereotypy |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Stereotypy |
OMIM:300425 |
Autism |
|
Stereotypy |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Stereotypy |
OMIM:608636 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Spasticity, Stereotypy |
OMIM:617393 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, Chorea, Inability to walk, Stereotypical hand wringing |
OMIM:618760 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder, Poor fine motor coordination |
OMIM:617182 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Stereotypy |
OMIM:615541 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... |
OMIM:617384 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Spasticity |
OMIM:612716 |
Juvenile Huntington Disease |
|
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Progressive cerebellar ataxia, Ataxia, Hyper... |
ORPHA:248111 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Spastic tetraparesis, Hyperactivity, Hypertonia, Hemiparesis |
OMIM:604317 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Gait disturbance, Babinski sign, Dystonia, Rigidity, Myoclonus, Stereotypy |
OMIM:600795 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Chorea, Stereotypy, Inability to walk, Stereotypical hand wringing, Spasticity, Gait at... |
OMIM:618917 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Gait ataxia, Stereotypy |
OMIM:609425 |
Atypical Rett Syndrome |
|
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Tongue thrusting, Tremor, Loss... |
ORPHA:3095 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity |
ORPHA:88616 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Hypertonia, Spastic tetraplegia, Stereotypy |
OMIM:615282 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Dystonia, Spastic dysarthria, Stereotypy, Waddling gait, Difficulty walking, Spast... |
ORPHA:280763 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity |
OMIM:618718 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Attention deficit hyperactivity disorder, Speech apraxia, Stereotypy |
OMIM:613670 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Hyperactivity, Spasticity |
OMIM:300983 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Glycine Encephalopathy |
|
Hyperactivity, Myoclonus, Lethargy |
OMIM:605899 |
Foxg1 Syndrome |
|
Dystonia, Choreoathetosis, Myoclonus, Stereotypy, Inability to walk, Stereotypical hand wringing,... |
ORPHA:561854 |
Developmental And Epileptic Encephalopathy 6B |
|
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic... |
OMIM:619317 |
Pontocerebellar Hypoplasia, Type 11 |
|
Poor coordination, Stereotypy, Ataxia, Inability to walk, Spasticity, Broad-based gait, Limb atax... |
OMIM:617695 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Tetraplegia, Hyperactivity, Hypertonia, Lethargy |
OMIM:274270 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactivity, Hypertonia, Spasticity... |
ORPHA:352490 |
Developmental And Epileptic Encephalopathy 30 |
|
Stereotypy |
OMIM:616341 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Spastic ataxia, Stereotypy |
OMIM:618906 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618504 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Stereotypical hand wringing, Hyperkinetic movements |
ORPHA:397933 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Spasticity |
ORPHA:500545 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia |
OMIM:619092 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Limb hypertonia, Chorea, Abnormality of extrapyramidal motor function, Hyperactivity, I... |
ORPHA:500180 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Abnormality of extrapy... |
ORPHA:382 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617044 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Stereotypy, Upper... |
ORPHA:275864 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Broad-based gait, Stereotypy |
OMIM:301029 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Lower limb spasticity, Tremor, Hyperactivity, Resting tremor, Broad-based gait, P... |
ORPHA:3077 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Spasticity, Stereotypy |
OMIM:612069 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Dysmetria, Tremor, Ataxia, Hyperactivity, Dysdiadochok... |
ORPHA:228360 |
Snijders Blok-Campeau Syndrome |
|
Unsteady gait, Broad-based gait, Speech apraxia, Stereotypy |
OMIM:618205 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Mental Retardation, Autosomal Recessive 41 |
|
Stereotypy |
OMIM:615637 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Myoclonus, Falls |
ORPHA:2382 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Autism, Susceptibility To, X-Linked 2 |
|
Stereotypy |
OMIM:300495 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abno... |
ORPHA:363400 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Recurrent hand flapping |
OMIM:615516 |
Obesity, Hyperphagia, And Developmental Delay |
|
Stereotypy |
OMIM:613886 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Stereotypy, Ataxia, Hyperactivity, Stereotypical hand wringing, Incoordination |
OMIM:614104 |
Optic Atrophy 11 |
|
Dysmetria, Ataxia, Hyperactivity, Hyperkinetic movements |
OMIM:617302 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Tics, Hypertonia, Broad-based gait, Unsteady gait |
OMIM:617865 |
Gand Syndrome |
|
Hyperactivity, Tics |
OMIM:615074 |
Bilateral Generalized Polymicrogyria |
|
Dystonia, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid myoclonus, Spasticity, O... |
ORPHA:208447 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
Cdkl5-Deficiency Disorder |
|
Gait disturbance, Stereotypical hand wringing, Difficulty walking |
ORPHA:505652 |
Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Babinski sign, Spasticity |
OMIM:617773 |
Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Gait disturbance, Poor coordination, Tremor, Ataxia, Recurrent hand flapping |
ORPHA:544254 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
Rett Syndrome |
|
Gait disturbance, Dystonia, Limb apraxia, Bradykinesia, Stereotypy, Inability to walk, Stereotypi... |
ORPHA:778 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Spasticity, Stereotypy |
OMIM:610042 |
Christianson Syndrome |
|
Dystonia, Gait ataxia, Truncal ataxia, Stereotypy |
ORPHA:85278 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Dystonia, Stereotypy, Spasticity, Unsteady gait, Gait ataxia, Difficulty walking |
OMIM:617807 |
Xq28 (MECP2) duplication |
|
Progressive spasticity, Inability to walk, Gait ataxia, Stereotypy |
DECIPHER:45 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... |
OMIM:608643 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Hyperactivity, Spastic parap... |
OMIM:609727 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Recurrent hand flapping, Spasticity |
OMIM:618859 |
Landau-Kleffner Syndrome |
|
Frequent falls, Steppage gait, Speech apraxia, Hyperactivity, Slurred speech, Attention deficit h... |
ORPHA:98818 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Upper motor neuron dysfunction, Stereotypy |
ORPHA:530983 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Stereotypy, Tremor, Hyperkinetic movements |
ORPHA:457240 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonic spasms, Poor motor coordination, Stereotypy, Loss of ability to walk, Poor ... |
ORPHA:79264 |
Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Oculogyric crisis |
ORPHA:178469 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity |
OMIM:616977 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Stereotypy, Attention deficit h... |
OMIM:619580 |
Pick Disease Of Brain |
|
Stereotypy |
OMIM:172700 |
Myopathy With Extrapyramidal Signs |
|
Clumsiness, Dystonia, Clonus, Frequent falls, Choreoathetosis, Chorea, Abnormality of extrapyrami... |
OMIM:615673 |
Xq25 Microduplication Syndrome |
|
Hyperactivity |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity |
OMIM:300979 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Chorea, Myoclonus, Lower limb spasticity, Progressive cerebellar ataxia, H... |
ORPHA:485350 |
Coffin-Siris Syndrome 6 |
|
Tics, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617808 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Myoclonus, Cortical myoclonus, Stereotypy, Ataxia, Hyperactivity, Inability to ... |
ORPHA:168491 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Babinski sign, Dystonia, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, Hypert... |
OMIM:610217 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Paroxysmal dystonia, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:98784 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Myoclonus, Stereotypy |
ORPHA:411986 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait, Spasticity |
ORPHA:457260 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Stereotypy |
ORPHA:228402 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Hyperkinetic movements |
OMIM:271980 |
Rasmussen Subacute Encephalitis |
|
Involuntary movements, Hemidystonia, Hemiparesis, Hyperactivity, Inability to walk, Attention def... |
ORPHA:1929 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Babinski sign, Scissor gait, Dysmetria, Spastic gait, Spastic tetraplegia, Stereotypy, Truncal at... |
OMIM:619121 |
X-Linked Adrenoleukodystrophy |
|
Clumsiness, Paralysis, Gait disturbance, Paraparesis, Progressive spastic paraparesis, Hemiparesi... |
ORPHA:43 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Tetraparesis, Stereotypy |
ORPHA:85277 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Myoclonus, Tongue thrusting, Tremor, Ataxia, Hyperactivity, Broad-based gait, Rec... |
ORPHA:98794 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hemiparesis, S... |
ORPHA:139396 |
Leber Congenital Amaurosis 1 |
|
Eye poking |
OMIM:204000 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Chorea, Ataxia, Hypertonia, Hyperactivity |
ORPHA:52503 |
48,Xxyy Syndrome |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:10 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Paraplegia, Ataxia, Lethargy, Stereotypy |
ORPHA:927 |
Developmental And Epileptic Encephalopathy 87 |
|
Recurrent hand flapping, Hypertonia |
OMIM:618916 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Stereotypy |
ORPHA:391307 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Gait disturbance, Stereotypy, Attention deficit hyperactivity disorder, Ataxia, Hypertonia, Recur... |
OMIM:300986 |
Phenylketonuria |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:313892 |
Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscl... |
ORPHA:166108 |
Mental Retardation, Autosomal Dominant 40 |
|
Gait ataxia, Stereotypy |
OMIM:616579 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Oromotor apraxia, Attention deficit hyperactivity disorder, Spast... |
ORPHA:391372 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Spasticity |
OMIM:615286 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Stereotypy |
ORPHA:3306 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Parkinsonism, Gait disturbance, Dystonia, Rigidity, Choreoathetosis, Eyelid apraxia, Abnormality ... |
OMIM:234200 |
Myoclonic-Astatic Epilepsy |
|
Tremor, Hyperactivity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Attention deficit hyperact... |
ORPHA:1942 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Gait disturbance, Dystonia, Poor hand-eye coordination, Stereotypy, Spasticity, Attention deficit... |
OMIM:300352 |
Smith-Magenis Syndrome |
|
Hyperactivity, Stereotypy |
OMIM:182290 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Recurrent hand flapping |
OMIM:617268 |
Infantile Neuroaxonal Dystrophy |
|
Progressive spasticity, Gait disturbance, Dystonia, Spastic tetraparesis, Ataxia, Hyperactivity, ... |
ORPHA:35069 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Spasticity |
OMIM:619467 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Progressive spasticity, Rigidity, Chorea, Lower limb spasticity, Stereotypy, Repetitive compulsiv... |
OMIM:300260 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Stereotypy |
OMIM:610883 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Tetraplegia, Abnormal pyramidal sign, Hyperactivity |
ORPHA:369939 |
Autism, Susceptibility To, 3 |
|
Stereotypy |
OMIM:608049 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral palsy, Ataxia, Hypertonia, Hyperactivity, Spasticity, Abnormal central motor function, S... |
ORPHA:760 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Spasticity, Stereotypy |
OMIM:300486 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait, Spasticity |
OMIM:300958 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, Attention deficit h... |
ORPHA:261197 |
4Q21 Microdeletion Syndrome |
|
Tremor, Stereotypy |
ORPHA:238750 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Attention deficit hyperactivity disorder, Hyperactivity, Recurrent hand flapping, Stereotypy |
ORPHA:449291 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus, Stereotypical hand wringing |
ORPHA:289266 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
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Broad-based gait, Stereotypy |
OMIM:616351 |
Microphthalmia-Brain Atrophy Syndrome |
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Tongue thrusting, Spasticity |
ORPHA:77299 |
Angelman Syndrome Due To A Point Mutation |
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Gait imbalance, Tongue thrusting, Ataxia, Broad-based gait, Recurrent hand flapping |
ORPHA:411511 |
Intellectual Developmental Disorder, X-Linked 30 |
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Clumsiness, Hyperactivity |
OMIM:300558 |
Rett Syndrome, Congenital Variant |
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Athetosis, Dystonia, Chorea, Tongue thrusting, Stereotypy, Apraxia, Spasticity |
OMIM:613454 |
Radio-Tartaglia Syndrome |
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Gait imbalance, Stereotypy, Tremor, Ataxia, Attention deficit hyperactivity disorder |
OMIM:619312 |
Mental Retardation, Autosomal Recessive 13 |
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Hyperactivity |
OMIM:613192 |
Cri-Du-Chat Syndrome |
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Hyperactivity, Hypertonia, Difficulty walking, Stereotypy |
OMIM:123450 |
Intellectual Developmental Disorder, X-Linked 98 |
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Lower limb spasticity, Stereotypy, Stereotypical body rocking, Ataxia, Hyperactivity, Stereotypic... |
OMIM:300912 |
5Q14.3 Microdeletion Syndrome |
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Stereotypy |
ORPHA:228384 |
Mental Retardation, Autosomal Dominant 48 |
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Stereotypy |
OMIM:617751 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
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Attention deficit hyperactivity disorder, Stereotypy |
OMIM:619293 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
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Head tremor, Ataxia, Stereotypy |
OMIM:619428 |
Childhood Absence Epilepsy |
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Attention deficit hyperactivity disorder, Limb myoclonus, Punding |
ORPHA:64280 |
Intellectual Developmental Disorder, X-Linked 107 |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
Mend Syndrome |
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Hyperactivity, Hypertonia |
OMIM:300960 |
Optic Atrophy-Intellectual Disability Syndrome |
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Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Spasticity |
ORPHA:401777 |
Childhood Disintegrative Disorder |
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Stereotypy |
ORPHA:168782 |
Adenylosuccinase Deficiency |
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Opisthotonus, Myoclonus, Hyperactivity, Inability to walk, Spasticity, Gait ataxia |
OMIM:103050 |
Alazami Syndrome |
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Stereotypical hand wringing, Stereotypy |
ORPHA:319671 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Stereotypy |
OMIM:615873 |
22Q11.2 Duplication Syndrome |
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Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:1727 |
Niemann-Pick Disease, Type C2 |
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Dystonia, Cataplexy, Stereotypy, Ataxia, Spasticity |
OMIM:607625 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Dystonia, Torticollis, Spastic tetraplegia, Spastic ataxia, Stereotypy, Oculomotor apraxia, Spast... |
ORPHA:300570 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Speech apraxia, Stereotypy |
ORPHA:529965 |
Brain-Lung-Thyroid Syndrome |
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Clumsiness, Involuntary movements, Dystonia, Choreoathetosis, Chorea, Myoclonus, Falls, Intention... |
ORPHA:209905 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Dystonia, Choreoathetosis, Chorea, Stereotypy, Repetitive compulsive behavior, Ataxia, Hyperkinet... |
ORPHA:522077 |
Chromosome 15Q25 Deletion Syndrome |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Cerebral palsy, Lower limb spasticity, Ataxia, Hyperactivity, Stereotypical hand wringing |
ORPHA:163681 |
Cystinosis |
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Abnormal pyramidal sign, Gait disturbance, Stereotypy |
ORPHA:213 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Progressive spasticity, Dystonia, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Spa... |
ORPHA:496641 |
Kohlschutter-Tonz Syndrome-Like |
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Upper limb spasticity, Myoclonus, Lower limb spasticity, Stereotypy, Tremor, Ataxia, Inability to... |
OMIM:619229 |
3P25.3 Microdeletion Syndrome |
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Ataxia, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:435638 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Tongue thrusting, Gait imbalance, Broad-based gait |
ORPHA:98795 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
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Stereotypy |
OMIM:618825 |
Distal Xq28 Microduplication Syndrome |
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Stereotypical body rocking, Attention deficit hyperactivity disorder, Tip-toe gait |
ORPHA:293939 |
Hydroxykynureninuria |
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Hypertonia, Stereotypy |
ORPHA:79155 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Cerebral palsy, Hypertonia, Stereotypy |
OMIM:618914 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
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Hyperactivity |
OMIM:615824 |
Smith-Magenis Syndrome |
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Gait disturbance, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:819 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity |
OMIM:300143 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
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Hyperactivity, Ataxia, Spasticity, Poor coordination |
OMIM:618430 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Attention deficit hyperactivity disorder, Stereotypy |
OMIM:619103 |
Angelman Syndrome |
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Myoclonus, Tongue thrusting, Tremor, Ataxia, Hyperactivity, Inability to walk, Broad-based gait, ... |
ORPHA:72 |
Graves Disease, Susceptibility To, 1 |
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Hyperactivity |
OMIM:275000 |
Ritscher-Schinzel Syndrome 4 |
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Athetosis, Chorea, Ataxia, Stereotypy |
OMIM:619435 |
Chromosome 5P13 Duplication Syndrome |
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Stereotypy |
OMIM:613174 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Stereotypy |
ORPHA:500159 |
Macrocephaly-Developmental Delay Syndrome |
|
Stereotypy |
ORPHA:397612 |
Dilated Cardiomyopathy With Ataxia |
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Dystonia, Lower limb spasticity, Repetitive compulsive behavior, Ataxia, Action tremor |
ORPHA:66634 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Limb hypertonia, Stereotypy, Inability to walk, Spasticity, Limb dystonia |
ORPHA:457351 |
Angelman Syndrome |
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Clumsiness, Limb tremor, Progressive gait ataxia, Hyperactivity, Broad-based gait |
OMIM:105830 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Tremor, Attention deficit hyperactivity disorder, Gait ataxia, Stereotypy |
ORPHA:476126 |
Transketolase Deficiency |
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Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:488618 |
Hyperlysinemia |
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Clumsiness, Opisthotonus, Poor motor coordination, Dysmetria, Tremor, Neck hypertonia, Spastic di... |
ORPHA:2203 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Clonus, Myoclonic spasms, Lower limb spasticity, Stereotypy, Hyperactivity, Hypertonia |
ORPHA:447997 |
Bainbridge-Ropers Syndrome |
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Inability to walk, Recurrent hand flapping, Hypertonia |
ORPHA:352577 |
Developmental And Epileptic Encephalopathy 2 |
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Inability to walk, Myoclonus, Stereotypy |
OMIM:300672 |
2Q37 Microdeletion Syndrome |
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Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:1001 |
Phelan-Mcdermid Syndrome |
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Unsteady gait, Tongue thrusting, Broad-based gait, Stereotypy |
OMIM:606232 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Babinski sign, Shuffling gait, Hyperactivity, Lower limb hypertonia, Spasticity, Progressive spas... |
OMIM:300534 |
Megalocornea-Intellectual Disability Syndrome |
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Ataxia, Stereotypy |
ORPHA:2479 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Stereotypy |
ORPHA:261144 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Unsteady gait, Ataxia, Stereotypy |
ORPHA:457279 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity |
OMIM:619239 |
Congenital Disorder Of Glycosylation, Type Iia |
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Unsteady gait, Hypertonia, Stereotypy |
OMIM:212066 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
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Hyperactivity |
OMIM:618314 |
Bainbridge-Ropers Syndrome |
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Inability to walk, Recurrent hand flapping, Hypertonia, Stereotypy |
OMIM:615485 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity |
ORPHA:85327 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Hand tremor |
ORPHA:99819 |
Limbic Encephalitis With Nmda Receptor Antibodies |
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Involuntary movements, Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Ster... |
ORPHA:217253 |
Choreoacanthocytosis |
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Oromandibular dystonia, Phonic tics, Lingual dystonia, Loss of ambulation, Bradykinesia, Hyperton... |
ORPHA:2388 |
Argininemia |
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Frequent falls, Spastic gait, Hyperactivity, Progressive spastic quadriplegia, Spastic paraparesis |
OMIM:207800 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Babinski sign, Hypertonia, Spasticity, Stereotypy |
OMIM:615802 |
White-Sutton Syndrome |
|
Hyperactivity, Incoordination, Stereotypy |
ORPHA:468678 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Cerebral palsy, Torticollis, Isometric tremor, Stereotypy, Clonus, Spastic tetraplegia, Intention... |
OMIM:619475 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor |
ORPHA:424 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Repetitive compulsive behavior, Parkinsonism, Apraxia |
OMIM:607485 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Stereotypical body rocking, Tongue thrusting |
ORPHA:261323 |
7Q11.23 Microduplication Syndrome |
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Dysmetria, Hyperactivity, Unsteady gait, Stereotypy |
ORPHA:96121 |
Kleefstra Syndrome 1 |
|
Stereotypy |
OMIM:610253 |
Citrullinemia Type Ii |
|
Tremor, Hyperactivity, Lethargy |
ORPHA:247585 |
Microcephaly 26, Primary, Autosomal Dominant |
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Spastic tetraparesis, Stereotypical hand wringing |
OMIM:619179 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Inability to walk, Hypertonia, Opisthotonus, Stereotypy |
ORPHA:508533 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Dysmetria, Speech apraxia, Stereotypy, Ataxia, Truncal ataxia, Broad-based gait, Gait ataxia |
OMIM:617330 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:619005 |
Pyruvate Carboxylase Deficiency |
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Dystonia, Tremor, Ataxia, Tip-toe gait, Abnormal pyramidal sign, Recurrent hand flapping |
ORPHA:3008 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:619575 |
Kleefstra Syndrome |
|
Stereotypy |
ORPHA:261494 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Gait disturbance, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:464311 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Ogden Syndrome |
|
Hypertonia, Stereotypy |
OMIM:300855 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Stereotypy |
ORPHA:319182 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Gait disturbance, Stereotypy |
ORPHA:464306 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Stereotypy, Hypertonia, Hyperkinetic movements, Spasticity, Abnormal pyramidal sign |
ORPHA:468631 |
Prader-Willi Syndrome Due To Translocation |
|
Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:177907 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Stereotypy |
OMIM:619512 |
Early Infantile Epileptic Encephalopathy |
|
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hyperactivity, Spasticity, Episodic ataxia |
ORPHA:1934 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Poor motor coordination, Dysmetria, Ataxia, Hyperactivity, Unsteady gait |
OMIM:614756 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Stereotypy, Repetitive compulsive behavior, Stereotypical body rocking, Broad-based gait, Gait at... |
ORPHA:513456 |
Cardiofaciocutaneous Syndrome 1 |
|
Oculomotor apraxia, Hypertonia, Tongue thrusting |
OMIM:115150 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Unsteady gait, Stereotypy |
OMIM:616682 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Poor coordination, Spastic diplegia, Stereotypy |
OMIM:309590 |
Kinsship Syndrome |
|
Spastic tetraparesis, Myoclonus, Stereotypy |
OMIM:619297 |
Legius Syndrome |
|
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder |
ORPHA:137605 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Difficulty walking, Stereotypy |
OMIM:618653 |
Arboleda-Tham Syndrome |
|
Gait imbalance, Lower limb hypertonia, Stereotypy |
OMIM:616268 |
Dpagt1-Cdg |
|
Tremor, Stereotypical body rocking, Hypertonia, Inability to walk, Ataxia, Akinesia |
ORPHA:86309 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Tongue thrusting, Broad-based gait, Hemiparesis |
ORPHA:369950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Stereotypy |
OMIM:301066 |
Oculocerebrorenal Syndrome Of Lowe |
|
Attention deficit hyperactivity disorder, Clonus, Stereotypy |
ORPHA:534 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Stereotypy |
ORPHA:580 |
Mgat2-Cdg |
|
Stereotypical hand wringing |
ORPHA:79329 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Stereotypy |
ORPHA:508498 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Gait disturbance, Ataxia, Hypertonia, Stereotypical hand wringing, Broad-based gait |
ORPHA:268261 |
Tuberous Sclerosis Complex |
|
Repetitive compulsive behavior, Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:805 |
1P36 Deletion Syndrome |
|
Gait disturbance, Hemiplegia/hemiparesis, Stereotypy |
ORPHA:1606 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Involuntary movements, Dystonia, Myoclonus, Exaggerated startle response, Inability to walk, Ster... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Attention deficit hyperactivity disorder, Exaggerated startle response, Stereotypy |
OMIM:619522 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Spastic tetraparesis, Hypertonia, Stereotypy |
OMIM:301044 |
Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Poor coordination, Unsteady gait, Stereotypy |
OMIM:180849 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Stereotypy |
ORPHA:353281 |
Norrie Disease |
|
Attention deficit hyperactivity disorder, Clonus, Hypertonia, Stereotypy |
ORPHA:649 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Stereotypy |
ORPHA:353277 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Stereotypy |
ORPHA:353284 |
Coffin-Siris Syndrome 12 |
|
Stereotypy |
OMIM:619325 |
Wolf-Hirschhorn Syndrome |
|
Stereotypy |
OMIM:194190 |
Lowe Oculocerebrorenal Syndrome |
|
Stereotypy |
OMIM:309000 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Stereotypical body rocking, Falls, Tip-toe gait, Broad-based gait |
OMIM:619503 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Stereotypy, Inability to walk, Poor fine motor coordination, Broad-based gait, Spasticity |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Stereotypy, Ataxia, Inability to walk, Broad-based gait, Spasticity |
ORPHA:2152 |
Primrose Syndrome |
|
Tics, Stereotypy |
OMIM:259050 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Stereotypy, Inability to walk, Poor fine motor coordination, Broad-based gait, Spasticity |
ORPHA:261552 |