| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Retinoschisis, Autosomal Dominant |
|
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation |
OMIM:180270 |
| Stargardt Disease 1 |
|
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization |
OMIM:615439 |
| Exudative Vitreoretinopathy 7 |
|
Retinal hole, Vitreoretinopathy, Retinal degeneration |
OMIM:617572 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Retinitis Pigmentosa 36 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... |
OMIM:610599 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold |
OMIM:605750 |
| Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Lattice retinal degeneration, Retinal detachment |
OMIM:150500 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... |
OMIM:312700 |
| N-Acetylaspartate Deficiency |
|
Truncal ataxia, Decreased body weight, Unsteady gait, Inguinal hernia, Stereotypy |
OMIM:614063 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... |
ORPHA:98807 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Flexion contracture, Stereotypy, Failure to thrive, Spasticity |
OMIM:617393 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... |
OMIM:180210 |
| Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment |
OMIM:304030 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Spasticity |
ORPHA:356996 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... |
OMIM:603075 |
| Coloboma Of Optic Nerve |
|
Retinal detachment |
OMIM:120430 |
| Retinal Detachment |
|
Retinal detachment |
OMIM:180050 |
| Mental Retardation, Autosomal Dominant 33 |
|
Decreased body weight, Hyperactivity |
OMIM:616311 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment |
OMIM:614224 |
| Retinitis Pigmentosa 13 |
|
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration |
OMIM:600059 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Stereotypy, Hyperactivity |
OMIM:300271 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... |
ORPHA:179 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Spastic tetraplegia, Babinski sign, Hyperactivity |
OMIM:616657 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Late-Onset Retinal Degeneration |
|
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits |
OMIM:605670 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration |
OMIM:615922 |
| Retinitis Pigmentosa 50 |
|
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... |
OMIM:609913 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
| Smith-Magenis syndrome |
|
Stereotypy, Hyperactivity |
DECIPHER:8 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Flexion contracture, Failure to thrive, Spasticity |
ORPHA:500545 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Arthrogryposis multiplex congenita, Hypertonia, Joint contracture of the 5th finger, Congenital c... |
ORPHA:352490 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity |
OMIM:615493 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Stereotypy |
OMIM:606053 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Poor motor coordination, Reduced intra... |
ORPHA:363400 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Stereotypy, Attention deficit hyperactivity disorder, Ataxia |
OMIM:618709 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Small for gestational age, Stereotypy, Failure to thrive, Hyperactivity |
OMIM:609425 |
| Irvan Syndrome |
|
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... |
ORPHA:209943 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Insulin-Like Growth Factor I Deficiency |
|
Decreased body weight, Hyperactivity |
OMIM:608747 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... |
OMIM:305390 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Spastic diplegia, Stereotypy |
OMIM:617830 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Failure to thrive in infancy, Stereotypy, Attention deficit hyperactivity disorde... |
OMIM:613670 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Chorea, Ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
| Baker-Gordon Syndrome |
|
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... |
OMIM:618218 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Hypertonia, Arthrogryposis multiplex congenita, Spastic tetraplegia, Stereotypy |
OMIM:615282 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... |
OMIM:615924 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy |
OMIM:619150 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment |
OMIM:193230 |
| Fraxe Intellectual Disability |
|
Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Hyperactivity |
ORPHA:100973 |
| Hyperprolinemia, Type I |
|
Stereotypy, Ataxia, Hyperactivity |
OMIM:239500 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Overweight, Difficulty walking, Waddling gait, Babinski sign, Stereotypy, Progressive s... |
ORPHA:280763 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| 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 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hypertonia, Failure to thrive, Hyperactivity, Tetraplegia |
OMIM:274270 |
| Autism, Susceptibility To, X-Linked 3 |
|
Stereotypy |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 2 |
|
Stereotypy |
OMIM:300495 |
| 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 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity |
OMIM:618090 |
| Foxg1 Syndrome |
|
Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Decreased body weight, M... |
ORPHA:561854 |
| Mental Retardation, Autosomal Recessive 58 |
|
Choreoathetosis, Spastic diplegia, Stereotypy |
OMIM:617270 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hypertonia, Spastic tetraparesis, Hemiparesis, Hyperactivity |
OMIM:604317 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Inability to walk, Difficulty walking, Limb ataxia, Poor coordination, Ataxia, Decreased body wei... |
OMIM:617695 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Hyperactivity |
ORPHA:85288 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... |
OMIM:133780 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... |
OMIM:193235 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
| Mental Retardation, Autosomal Recessive 39 |
|
Stereotypy, Hyperactivity |
OMIM:615541 |
| Christianson Syndrome |
|
Dystonia, Arthrogryposis multiplex congenita, Truncal ataxia, Gait ataxia, Cachexia, Stereotypy |
ORPHA:85278 |
| Atypical Rett Syndrome |
|
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... |
ORPHA:3095 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Stereotypical hand wringing, Chorea, Dystonia, Inability to walk |
OMIM:618760 |
| Norrie Disease |
|
Aggressive behavior, Retinal dysplasia, Retinal detachment, Optic atrophy, Retinal fold |
OMIM:310600 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity |
ORPHA:88616 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Tremor, Ataxia, Spasticity |
OMIM:300983 |
| Mental Retardation, Autosomal Dominant 7 |
|
Incoordination, Gait disturbance, Ataxia, Failure to thrive in infancy, Small for gestational age... |
OMIM:614104 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Dystonia, Gait disturbance, Myoclonus, Babinski sign, Stereotypy, Rigidity |
OMIM:600795 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Dystonia, Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasti... |
OMIM:618917 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Oromotor apraxia, Overweight, Flexion contracture, Failure to thrive, Repetitive compulsive behav... |
ORPHA:391372 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity |
OMIM:618718 |
| Developmental And Epileptic Encephalopathy 6B |
|
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Chore... |
OMIM:619317 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity |
OMIM:612716 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Tremor, Broad-based gait, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Shu... |
ORPHA:3077 |
| 48,Xxyy Syndrome |
|
Abnormal dental enamel morphology, Tremor, Ataxia, Inguinal hernia, Stereotypy, Type II diabetes ... |
ORPHA:10 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Ataxia, Stereotypy, Hyperactivity, Failure to thrive, Spasticity |
OMIM:300912 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Stereotypy, Obesity |
OMIM:613886 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Glycine Encephalopathy |
|
Lethargy, Myoclonus, Hyperactivity |
OMIM:605899 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Tics, Hypertonia, Unsteady gait, Failure to thrive, Hyperactivity, Broad-based gait |
OMIM:617865 |
| Coffin-Siris Syndrome 8 |
|
Failure to thrive, Hyperactivity |
OMIM:618362 |
| Developmental And Epileptic Encephalopathy 30 |
|
Stereotypy |
OMIM:616341 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy |
OMIM:619092 |
| Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Stereotypy, Failure to thrive, Progressive spasticity |
DECIPHER:45 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Stereotypical hand wringing, Hyperkinetic movements |
ORPHA:397933 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Abnormality of extrapyramidal motor function, Gait disturbance, Stereotypy, Upper motor neuron dy... |
ORPHA:275864 |
| Mental Retardation, Autosomal Recessive 41 |
|
Stereotypy |
OMIM:615637 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Overweight, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy |
ORPHA:457240 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Decreased body weight, Hyperactivity |
OMIM:618342 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Dystonia, Speech apraxia, Paroxysmal dyskinesia, Congenital diaphragmatic hernia, Stereotypy, Fai... |
ORPHA:261197 |
| Sotos Syndrome 3 |
|
Hyperactivity |
OMIM:617169 |
| Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Stereotypy, Speech apraxia |
OMIM:618205 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Chorea, Progressive cerebellar ataxia, Inguinal hernia, Lower limb spastic... |
ORPHA:485350 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... |
ORPHA:500180 |
| Rett Syndrome |
|
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Bradykinesia, St... |
ORPHA:778 |
| Cln5 Disease |
|
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Trunc... |
ORPHA:228360 |
| Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Stereotypy, Broad-based gait |
OMIM:301029 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Spastic paraplegia, Hiatus hernia, Upper limb spasticity, Lower limb spasticity, Babinski sign, H... |
OMIM:609727 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Stereotypy, Hyperactivity |
OMIM:618504 |
| Bilateral Generalized Polymicrogyria |
|
Dystonia, Eyelid myoclonus, Paroxysmal dyskinesia, Oculogyric crisis, Spastic tetraplegia, Stereo... |
ORPHA:208447 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Stereotypy, Spasticity |
OMIM:612069 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity |
OMIM:301013 |
| Lennox-Gastaut Syndrome |
|
Falls, Myoclonus, Hyperactivity |
ORPHA:2382 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hernia, Stereotypy, Hyperactivity |
ORPHA:3306 |
| Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Babinski sign, Spasticity |
OMIM:617773 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618906 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity |
ORPHA:411515 |
| Cdkl5-Deficiency Disorder |
|
Stereotypical hand wringing, Gait disturbance, Difficulty walking |
ORPHA:505652 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Ataxia, Stereotypy, Failure to thrive, Paraplegia |
ORPHA:927 |
| Optic Atrophy 11 |
|
Dysmetria, Hyperkinetic movements, Ataxia, Hyperactivity |
OMIM:617302 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Failure to thrive, Spasticity |
OMIM:615286 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Tremor, Gait disturbance, Poor coordination, Ataxia, Recurrent hand flapping |
ORPHA:544254 |
| Potocki-Lupski Syndrome |
|
Stereotypy, Small for gestational age, Failure to thrive, Hyperactivity |
OMIM:610883 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... |
ORPHA:382 |
| Gand Syndrome |
|
Tics, Hyperactivity |
OMIM:615074 |
| Cri-Du-Chat Syndrome |
|
Difficulty walking, Hypertonia, Inguinal hernia, Small for gestational age, Stereotypy, Hyperacti... |
OMIM:123450 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive, ... |
ORPHA:73272 |
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Flexion contracture, Inguinal hernia, Knee flexion contracture, Hyperactivity, Hip contracture, E... |
OMIM:616809 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Poor motor coordination, Poor fine motor coordination, Loss of ability to walk, Parki... |
ORPHA:79264 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617044 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Ataxia, Tongue thrusting, Recurrent hand flapping, Myoclonus, Hyperactivity, Gait imbalan... |
ORPHA:98794 |
| Mental Retardation, Autosomal Recessive 38 |
|
Unsteady gait, Recurrent hand flapping, Hyperactivity |
OMIM:615516 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Eyelid myoclonus, Oculogyric crisis, Stereotypy, Spasticity |
ORPHA:178469 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity |
OMIM:617752 |
| Smith-Magenis Syndrome |
|
Increased body weight, Stereotypy, Hyperactivity |
OMIM:182290 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Tetraplegia, Abnormal pyramidal sign, Failure to thrive, Hyperactivity |
ORPHA:369939 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Dystonia, Gait ataxia, Difficulty walking, Unsteady gait, Stereotypy, Spasticity |
OMIM:617807 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Stereotypical hand wringing, Hypertonia, Small for gestational age, Myoclonus |
ORPHA:289266 |
| Landau-Kleffner Syndrome |
|
Gait ataxia, Speech apraxia, Slurred speech, Hyperactivity, Steppage gait, Frequent falls, Attent... |
ORPHA:98818 |
| X-Linked Creatine Transporter Deficiency |
|
Dystonia, Chorea, Hypertonia, Ataxia, Cachexia, Hyperactivity, Athetosis |
ORPHA:52503 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait, Decreased body weight, Spasticity |
OMIM:300958 |
| Lamb-Shaffer Syndrome |
|
Stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction |
ORPHA:530983 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Inability to walk, Hoffmann sign, Apraxia, Difficulty walking, Gait disturbance, Spastic tetrapar... |
ORPHA:139396 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Dystonia, Gait disturbance, Stereotypy, Poor hand-eye coordination, Failure to thrive, Attention ... |
OMIM:300352 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Recurrent hand flapping, Spasticity |
OMIM:618859 |
| Coffin-Siris Syndrome 6 |
|
Tics, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617808 |
| Cystinosis |
|
Gait disturbance, Abnormal pyramidal sign, Type I diabetes mellitus, Stereotypy, Failure to thrive |
ORPHA:213 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Myoclonus, Stereotypy |
ORPHA:411986 |
| Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
| Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Spastic tetraparesis, Flexion contracture, Abnormal pyramidal sign, A... |
ORPHA:35069 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cortical myoclonus, Inability to walk, Gait disturbance, Ataxia, Myoclonus, Stereotypy, Hyperacti... |
ORPHA:168491 |
| Kohlschutter-Tonz Syndrome-Like |
|
Enamel hypoplasia, Amelogenesis imperfecta, Tremor, Inability to walk, Overweight, Upper limb spa... |
OMIM:619229 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy, Blepharospasm, Limb tremor, Torticollis, Limb hypertonia, Exaggerated startle response,... |
OMIM:608643 |
| Mental Retardation, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity |
OMIM:613192 |
| 13Q12.3 Microdeletion Syndrome |
|
Camptodactyly, Congenital diaphragmatic hernia, Failure to thrive, Hyperactivity, Obesity |
ORPHA:412035 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Inguinal hernia, Attention deficit hyperactivity disorder, Congenital diaphragmati... |
OMIM:614294 |
| Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Inability to walk, Chorea, Ataxia, Decreased body weight, Lower limb spasticity, Stereotypy, Prog... |
OMIM:300260 |
| Pick Disease Of Brain |
|
Stereotypy |
OMIM:172700 |
| Rasmussen Subacute Encephalitis |
|
Inability to walk, Hyperactivity, Hemiparesis, Hemidystonia, Involuntary movements, Attention def... |
ORPHA:1929 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Hypertonia, Joint contracture of the 5th finger, Umbilical hernia, Inguinal hernia, Stereotypy, J... |
OMIM:618914 |
| 2Q23.1 Microdeletion Syndrome |
|
Stereotypy, Ataxia, Hyperactivity |
ORPHA:228402 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Stereotypy, Diabetes mellitus, Umbilical hernia |
ORPHA:500159 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enamel hypoplasia, Attention deficit hyperactivity disorder, Flexion contracture, Stereotypy |
OMIM:619293 |
| Angelman Syndrome Due To A Point Mutation |
|
Ataxia, Obesity, Tongue thrusting, Recurrent hand flapping, Gait imbalance, Broad-based gait |
ORPHA:411511 |
| Symptomatic Form Of Fragile X Syndrome In Female Carrier |
|
Recurrent hand flapping, Stereotypy, Hyperactivity, Diabetes mellitus, Attention deficit hyperact... |
ORPHA:449291 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperkinetic movements, Ataxia, Hyperactivity |
OMIM:271980 |
| Radio-Tartaglia Syndrome |
|
Tremor, Ataxia, Stereotypy, Gait imbalance, Attention deficit hyperactivity disorder, Obesity |
OMIM:619312 |
| 2Q37 Microdeletion Syndrome |
|
Umbilical hernia, Stereotypy, Congenital diaphragmatic hernia, Attention deficit hyperactivity di... |
ORPHA:1001 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
| Leber Congenital Amaurosis 1 |
|
Eye poking |
OMIM:204000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Tremor, Gait ataxia, Abdominal obesity |
OMIM:300354 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Obesity |
OMIM:614613 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait, Spasticity |
ORPHA:457260 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Recurrent hand flapping |
OMIM:617268 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Stereotypy, Hyperactivity, Ataxia, Spasticity |
OMIM:610042 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Stereotypy, Obesity |
OMIM:615873 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Truncal ataxia, Spastic gait, Spastic tetraplegia, Dysmetria, Stereotypy, Babinski sign, Scissor ... |
OMIM:619121 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:313892 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss, Hyperactivity |
OMIM:275000 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Stereotypy |
ORPHA:238750 |
| Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Recurrent hand flapping |
OMIM:618916 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Stereotypy, Hyperactivity |
ORPHA:391307 |
| X-Linked Adrenoleukodystrophy |
|
Incoordination, Clumsiness, Paraparesis, Gait disturbance, Hemiparesis, Paralysis, Hyperactivity,... |
ORPHA:43 |
| Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Stereotypy |
OMIM:613174 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Tetraparesis, Stereotypy |
ORPHA:85277 |
| Myoclonic-Astatic Epilepsy |
|
Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperact... |
ORPHA:1942 |
| Mental Retardation, Autosomal Dominant 40 |
|
Gait ataxia, Stereotypy |
OMIM:616579 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Arthrogryposis multiplex congenita, Ataxia, Stereotypy, Fasciculations, Tetraplegia, Pr... |
ORPHA:496641 |
| 3P25.3 Microdeletion Syndrome |
|
Stereotypy, Attention deficit hyperactivity disorder, Ataxia, Knee flexion contracture |
ORPHA:435638 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Paroxysmal dystonia, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:98784 |
| Intellectual Disability, Birk-Barel Type |
|
Contractures involving the joints of the feet, Tongue fasciculations, Congenital finger flexion c... |
ORPHA:166108 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Chorea, Hypertonia, Bradykinesia, Dysme... |
OMIM:610217 |
| Smith-Magenis Syndrome |
|
Gait disturbance, Failure to thrive in infancy, Stereotypy, Attention deficit hyperactivity disor... |
ORPHA:819 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Tremor, Inguinal hernia, Cachexia, Hyperactivity, Broad-based gait, Obesity |
ORPHA:85293 |
| Brain-Lung-Thyroid Syndrome |
|
Dystonia, Apraxia, Clumsiness, Incoordination, Hyperactivity, Chorea, Ataxia, Falls, Myoclonus, F... |
ORPHA:209905 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Progressive flexion contractures, Dystonia, Chorea, Hyperkinetic movements, Hemiballismus, Ataxia... |
ORPHA:522077 |
| White-Sutton Syndrome |
|
Incoordination, Inguinal hernia, Stereotypy, Congenital diaphragmatic hernia, Hyperactivity, Vent... |
ORPHA:468678 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Gait ataxia, Stereotypy, Failure to thrive, Attention deficit hyperactivity disorder |
ORPHA:476126 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Failure to thrive, Hyperactivity |
OMIM:619239 |
| Mental Retardation, Autosomal Dominant 34 |
|
Stereotypy, Broad-based gait |
OMIM:616351 |
| Mental Retardation, Autosomal Dominant 48 |
|
Stereotypy |
OMIM:617751 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Poor coordination, Ataxia, Obesity, Hyperactivity, Spasticity |
OMIM:618430 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Tongue thrusting, Spasticity |
ORPHA:77299 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enamel hypoplasia, Hypertonia, Stereotypy, Failure to thrive, Babinski sign, Spasticity |
OMIM:615802 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Incoordination, Spastic paraparesis, Camptodactyly, Ataxia, Umbilical hernia, Hyperactivity, Arth... |
ORPHA:369891 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Inability to walk, Dystonia, Spastic ataxia, Spastic diplegia, Oculomotor apraxia, Torticollis, S... |
ORPHA:300570 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th toe, Hypoglycemia, Ataxia, Unsteady ... |
ORPHA:457279 |
| Hyperlysinemia |
|
Tremor, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic diplegia, Neck hyperto... |
ORPHA:2203 |
| Phelan-Mcdermid Syndrome |
|
Cellulitis, Unsteady gait, Tongue thrusting, Stereotypy, Broad-based gait |
OMIM:606232 |
| Rett Syndrome, Congenital Variant |
|
Dystonia, Apraxia, Chorea, Tongue thrusting, Stereotypy, Athetosis, Spasticity |
OMIM:613454 |
| Angelman Syndrome |
|
Inability to walk, Tremor, Ataxia, Tongue thrusting, Recurrent hand flapping, Myoclonus, Hyperact... |
ORPHA:72 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Dystonia, Abnormality of extrapyramidal moto... |
OMIM:234200 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hand tremor, Small for gestational age, Weight loss, Hyperactivity |
ORPHA:424 |
| 5Q14.3 Microdeletion Syndrome |
|
Stereotypy |
ORPHA:228384 |
| Alazami Syndrome |
|
Stereotypical hand wringing, Stereotypy |
ORPHA:319671 |
| Angelman Syndrome |
|
Clumsiness, Progressive gait ataxia, Limb tremor, Hyperactivity, Broad-based gait, Obesity |
OMIM:105830 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Spasticity |
ORPHA:401777 |
| Transketolase Deficiency |
|
Attention deficit hyperactivity disorder, Type I diabetes mellitus, Stereotypy |
ORPHA:488618 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal central motor function, Spastic paraparesis, Hypertonia, Ataxia, Hyperactivity, Cerebral... |
ORPHA:760 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hypertonia, Lower limb spasticity, Multiple joint contractures, Stereotypy, Hyperactivity, Clonus... |
ORPHA:447997 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Camptodactyly, Failure to thrive in infancy, Tongue thrusting, Hyperactivity, Stereotypical body ... |
ORPHA:261323 |
| 22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:1727 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Gait disturbance, Large for gestational age, Neonatal hypoglycemia, Hyperactivity |
ORPHA:457485 |
| Dilated Cardiomyopathy With Ataxia |
|
Dystonia, Neonatal hypoglycemia, Ataxia, Action tremor, Lower limb spasticity, Repetitive compuls... |
ORPHA:66634 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Stereotypy, Unsteady gait, Hypertonia, Failure to thrive |
OMIM:212066 |
| Intellectual Disability-Strabismus Syndrome |
|
Congenital finger flexion contractures, Gait disturbance, Achilles tendon contracture, Congenital... |
ORPHA:363528 |
| Adenylosuccinase Deficiency |
|
Inability to walk, Gait ataxia, Opisthotonus, Myoclonus, Hyperactivity, Spasticity |
OMIM:103050 |
| Distal Xq28 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Tip-toe gait, Stereotypical body rocking |
ORPHA:293939 |
| 7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Unsteady gait, Congenital diaphragmatic hernia, Stereotypy, Dysmetria, Hyperacti... |
ORPHA:96121 |
| Pyruvate Carboxylase Deficiency |
|
Tremor, Dystonia, Abnormal pyramidal sign, Ataxia, Hypoglycemia, Recurrent hand flapping, Failure... |
ORPHA:3008 |
| Childhood Disintegrative Disorder |
|
Stereotypy |
ORPHA:168782 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Gait disturbance, Small for gestational age, Stereotypy, Failure t... |
ORPHA:464311 |
| Pediatric-Onset Graves Disease |
|
Tremor, Hyperkinetic movements, Failure to thrive, Hyperactivity |
ORPHA:525731 |
| Niemann-Pick Disease, Type C2 |
|
Dystonia, Ataxia, Stereotypy, Cataplexy, Spasticity |
OMIM:607625 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:619103 |
| Kleefstra Syndrome |
|
Hernia, Stereotypy, Obesity |
ORPHA:261494 |
| Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss, Hyperactivity |
ORPHA:99819 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, Tongue thrusting, Broad-based gait |
ORPHA:98795 |
| Autism, Susceptibility To, 3 |
|
Stereotypy |
OMIM:608049 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Ogden Syndrome |
|
Inguinal hernia, Hypertonia, Stereotypy, Minimal subcutaneous fat |
OMIM:300855 |
| Mucopolysaccharidosis, Type Iiic |
|
Hernia, Hyperactivity |
OMIM:252930 |
| Bone Marrow Failure Syndrome 3 |
|
Enamel hypoplasia, Amelogenesis imperfecta, Hernia, Failure to thrive, Hyperactivity |
OMIM:617052 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Stereotypy |
OMIM:618825 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Stereotypical hand wringing, Spastic tetraparesis, Failure to thrive |
OMIM:619179 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Multiple jo... |
ORPHA:468631 |
| Macrocephaly-Developmental Delay Syndrome |
|
Stereotypy |
ORPHA:397612 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Stereotypy, Speech apraxia |
ORPHA:529965 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Gait disturbance, Multiple joint contractures, Small for gestational age, Stereotypy, Failure to ... |
ORPHA:464306 |
| Glass Syndrome |
|
Camptodactyly, Inguinal hernia, Broad-based gait, Hyperactivity |
OMIM:612313 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Limb hypertonia, Limb dystonia, Stereotypy, Spasticity |
ORPHA:457351 |
| Childhood Absence Epilepsy |
|
Punding, Limb myoclonus, Attention deficit hyperactivity disorder |
ORPHA:64280 |
| Kleefstra Syndrome 1 |
|
Stereotypy, Obesity |
OMIM:610253 |
| Megalocornea-Intellectual Disability Syndrome |
|
Stereotypy, Ataxia |
ORPHA:2479 |
| Hydroxykynureninuria |
|
Hypertonia, Stereotypy |
ORPHA:79155 |
| Early Infantile Epileptic Encephalopathy |
|
Episodic ataxia, Tremor, Dystonia, Umbilical hernia, Myoclonus, Failure to thrive, Hyperactivity,... |
ORPHA:1934 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Gait ataxia, Contractures of the joints of the lower limbs, Stereotypy, Failure to thrive, Repeti... |
ORPHA:513456 |
| Choreoacanthocytosis |
|
Hypertonia, Head titubation, Weight loss, Progressive inability to walk, Falls, Hyperactivity, Ph... |
ORPHA:2388 |
| Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Hyperactivity |
OMIM:609152 |
| Bainbridge-Ropers Syndrome |
|
Inability to walk, Hypertonia, Recurrent hand flapping |
ORPHA:352577 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Stereotypy, Attention deficit hyperactivity disorder, Decreased body weight |
OMIM:619005 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Stereotypy |
ORPHA:261144 |
| Citrullinemia Type Ii |
|
Decreased body mass index, Lethargy, Tremor, Hyperactivity |
ORPHA:247585 |
| Dyggve-Melchior-Clausen Disease |
|
Inability to walk, Difficulty walking, Spastic tetraparesis, Failure to thrive, Hyperactivity, Fr... |
ORPHA:239 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Hypertonia, Opisthotonus, Hypereosinophilia, Stereotypy, Elbow flexion contrac... |
ORPHA:508533 |
| Brooks-Wisniewski-Brown syndrome |
|
Flexion contracture, Spastic diplegia, Poor coordination, Small for gestational age, Hyperactivity |
OMIM:300612 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Tics, Camptodactyly of finger, Hyperactivity |
ORPHA:261211 |
| Mucopolysaccharidosis, Type Iiid |
|
Flexion contracture, Hyperactivity |
OMIM:252940 |
| Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Myoclonus, Stereotypy |
OMIM:300672 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Difficulty walking, Inguinal hernia, Stereotypy, Obesity |
OMIM:618653 |
| Wiedemann-Steiner Syndrome |
|
Stereotypy, Failure to thrive, Hyperactivity |
ORPHA:319182 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Camptodactyly, Flexion contracture, Spastic diplegia, Poor coordination, Small for gestational ag... |
OMIM:309590 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Hyperactivity |
OMIM:256800 |
| Prader-Willi Syndrome Due To Translocation |
|
Attention deficit hyperactivity disorder, Stereotypy, Obesity |
ORPHA:177907 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Hemiparesis, Obesity, Tongue thrusting, Failure to thrive, Broad-based gait |
ORPHA:369950 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Inguinal hernia, Failure to thrive, Hyperactivity, Large for gestational age, Attention deficit h... |
OMIM:607721 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hypertonia, Oculomotor apraxia, Tongue thrusting, Failure to thrive |
OMIM:115150 |
| Mucopolysaccharidosis Type 2 |
|
Umbilical hernia, Inguinal hernia, Flexion contracture of digit, Stereotypy, Hyperactivity, Contr... |
ORPHA:580 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal dental enamel morphology, Atypical scarring of skin, Umbilical hernia, Inguinal hernia, ... |
ORPHA:534 |
| Distal Monosomy 12Q |
|
Maturity-onset diabetes of the young, Failure to thrive in infancy, Diabetes mellitus, Hyperactiv... |
ORPHA:96149 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Gait ataxia, Truncal ataxia, Speech apraxia, Ataxia, Stereotypy, Dysmetria, Broad-based gait |
OMIM:617330 |
| Argininemia |
|
Spastic paraparesis, Progressive spastic quadriplegia, Spastic gait, Hyperactivity, Frequent falls |
OMIM:207800 |
| Monosomy 9Q22.3 |
|
Large for gestational age, Umbilical hernia, Hyperactivity |
ORPHA:77301 |
| Kinsship Syndrome |
|
Stereotypy, Spastic tetraparesis, Myoclonus, Failure to thrive |
OMIM:619297 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypertonia, Gait disturbance, Failure to thrive in infancy, Ataxia, Inguinal hernia, Small for ge... |
ORPHA:268261 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Apraxia, Parkinsonism |
OMIM:607485 |
| Norrie Disease |
|
Hypertonia, Cachexia, Stereotypy, Failure to thrive, Clonus, Diabetes mellitus, Attention deficit... |
ORPHA:649 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Keloids, Stereotypy, Hyperactivity, Failure to thrive, Obesity |
ORPHA:353281 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Gait disturbance, Hemiplegia/hemiparesis, Stereotypy, Failure to thrive,... |
ORPHA:1606 |
| Rubinstein-Taybi Syndrome 1 |
|
Enamel hypoplasia, Flexion contracture, Poor coordination, Keloids, Truncal obesity, Unsteady gai... |
OMIM:180849 |
| Tuberous Sclerosis Complex |
|
Shagreen patch, Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Hyperac... |
ORPHA:805 |
| Arboleda-Tham Syndrome |
|
Lower limb hypertonia, Gait imbalance, Stereotypy |
OMIM:616268 |
| Cerebellar Ataxia, Nonprogressive, With Mental Retardation |
|
Poor motor coordination, Ataxia, Unsteady gait, Dysmetria, Hyperactivity |
OMIM:614756 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Unsteady gait, Stereotypy |
OMIM:616682 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Keloids, Corneal scarring, Failure to thrive, Stereotypy, Hyperactivity, Obesity |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Keloids, Corneal scarring, Failure to thrive, Stereotypy, Hyperactivity, Obesity |
ORPHA:353277 |
| Lowe Oculocerebrorenal Syndrome |
|
Enamel hypoplasia, Camptodactyly of finger, Failure to thrive, Stereotypy, Joint contracture of t... |
OMIM:309000 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Stereotypy |
ORPHA:508498 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Inability to walk, Dystonia, Involuntary movements, Exaggerated startle response, Myoclonus, Ster... |
ORPHA:438213 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Obesity |
ORPHA:280651 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Hypertonia, Camptodactyly, Spastic tetraparesis, Stereotypy, Congenital diaphragmatic hernia, Con... |
OMIM:301044 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Umbilical hernia, Obesity |
ORPHA:48652 |
| Wolf-Hirschhorn Syndrome |
|
Stereotypy, Small for gestational age, Failure to thrive |
OMIM:194190 |
| Coffin-Siris Syndrome 12 |
|
Stereotypy, Failure to thrive |
OMIM:619325 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Inability to walk, Camptodactyly, Poor fine motor coordination, Flexion contracture, Failure to t... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Inability to walk, Camptodactyly, Flexion contracture, Decreased body weight, Ataxia, Stereotypy,... |
ORPHA:2152 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Inability to walk, Camptodactyly, Poor fine motor coordination, Flexion contracture, Failure to t... |
ORPHA:261552 |
