| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
| Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
| Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
| Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
| Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Hyperactivity, Spasticity |
ORPHA:356996 |
| Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia, Ankle flexion contra... |
OMIM:616657 |
| N-Acetylaspartate Deficiency |
|
Motor stereotypy, Decreased body weight, Truncal ataxia, Inguinal hernia |
OMIM:614063 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Decreased body weight, Hyperactivity |
OMIM:616311 |
| Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Failure to thrive, Spasticity, Flexion contracture |
OMIM:617393 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
| Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
| Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity |
DECIPHER:8 |
| Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... |
OMIM:616468 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Failure to thrive, Spasticity, Flexion contracture |
ORPHA:500545 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Hyperactivity, Joint contracture of the hand, Inguinal hernia, Smal... |
ORPHA:352490 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Hyperactivity, Tremor, Elbow flexion contracture, Spastic tetraparesis |
OMIM:619470 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hyp... |
ORPHA:363400 |
| Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Gait ataxia |
OMIM:609425 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder, Obesity, Failure to t... |
OMIM:613670 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia, Arthrogryposis multiplex congenita |
OMIM:615282 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Hyperactivity, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Clumsiness, Hyperactivity, Recurrent hand flapping |
ORPHA:100973 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
| Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, Hyperactivity |
OMIM:239500 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Motor stereotypy, Hyperactivity, Recurrent hand flapping, Cerebral palsy, Myoclonu... |
OMIM:617600 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity |
OMIM:615924 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor |
ORPHA:98807 |
| Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy |
OMIM:300496 |
| Autism, Susceptibility To, 8 |
|
Motor stereotypy |
OMIM:607373 |
| Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy |
OMIM:300425 |
| Autism |
|
Motor stereotypy |
OMIM:209850 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:608636 |
| Juvenile Huntington Disease |
|
Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Myoclonus, Rigidity, Chorea, ... |
ORPHA:248111 |
| Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia |
OMIM:617830 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia |
OMIM:619150 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Hyperactivity, Tetraplegia, Hypertonia |
OMIM:274270 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Hyperactivity, Spasticity, Chorea |
ORPHA:88616 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Involuntary movements, Spasticity |
OMIM:617820 |
| Foxg1 Syndrome |
|
Motor stereotypy, Decreased body weight, Myoclonus, Hyperkinetic movements, Stereotypical hand wr... |
ORPHA:561854 |
| Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Hyperkinetic movements, Choreoathetosis, Involuntary movements |
OMIM:618218 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Spasticity, ... |
ORPHA:280763 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hypertonia, Hyperactivity, Inguinal hernia, Small for gestational age, Cerebral palsy, Arthrogryp... |
OMIM:615834 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Failure to thrive, Flexion contracture, Oromotor apraxia, Attention deficit hyperactivity disorde... |
ORPHA:391372 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Ataxia, Hyperactivity, Small for gestational age, Stereotypical hand wringing, ... |
OMIM:614104 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Hyperactivity, Dysmetria |
OMIM:618090 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination |
OMIM:617182 |
| 48,Xxyy Syndrome |
|
Motor stereotypy, Ataxia, Type II diabetes mellitus, Inguinal hernia, Tremor, Attention deficit h... |
ORPHA:10 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, Decreased body weight, Hyperactivity, Tremor, Attention deficit hyperactivity d... |
OMIM:618342 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Tremor, Hyperactivity, Spasticity |
OMIM:618718 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Obesity |
OMIM:613886 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Ataxia, Decreased body weight, Limb ataxia, Poor coordination, Spasticity |
OMIM:617695 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
| Christianson Syndrome |
|
Motor stereotypy, Cachexia, Truncal ataxia, Gait ataxia, Arthrogryposis multiplex congenita |
ORPHA:85278 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Hyperactivity, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormali... |
ORPHA:382 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Hyperactivity |
OMIM:615541 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Recurrent hand flapping, Hyperactivity, Truncal obesity |
OMIM:613192 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Gait ataxia, Recurrent hand flapping, Poor coordination |
OMIM:619717 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia |
OMIM:612716 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing |
ORPHA:397933 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Spastic ataxia |
OMIM:618906 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Motor tics |
OMIM:619927 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Resting tremor, Parkinsonism, Tremor, Obesity, Lower limb spasticity |
ORPHA:3077 |
| Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Myoclonus, Hyperkinetic movements, Chorea, Choreoathetosis |
OMIM:619317 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Stereotypical hand wringing, Chorea |
OMIM:618760 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia |
OMIM:619092 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy |
OMIM:619690 |
| Atypical Rett Syndrome |
|
Hand apraxia, Pill-rolling tremor, Stereotypical hand wringing, Tongue thrusting, Limb myoclonus,... |
ORPHA:3095 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity |
OMIM:618917 |
| Xq28 (MECP2) duplication |
|
Progressive spasticity, Failure to thrive, Motor stereotypy, Gait ataxia |
DECIPHER:45 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Hiatus hernia, Babinski sign, Spastic paraplegia, Clonus, Upper limb spasticity, L... |
OMIM:609727 |
| Potocki-Lupski Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age |
OMIM:610883 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy, Hyperactivity, Hernia |
ORPHA:3306 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Motor stereotypy, Failure to thrive, Congenital diaphragmatic hernia, Speech apraxia, Choreoathet... |
ORPHA:261197 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Attention deficit hyperactivity disorder, Recurrent hand flapping |
OMIM:620021 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Cyanosis, Tongu... |
OMIM:619580 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:618504 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Clumsiness, Overweight, Recurrent hand flapping |
OMIM:615032 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Failure to thrive, Attention deficit hyperactivity disorder, Tics, Recurrent hand flapping |
OMIM:617788 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Babinski sign, Spasticity |
OMIM:612069 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Hyperkinetic movements, Tremor, Upper limb spasticity, Overweight |
ORPHA:457240 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Hyperactivity, Small for gestational age, Truncal obesity, Hypoglycemia, Atten... |
ORPHA:73272 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Myoclonus, Babinski sign, Rigidity |
OMIM:600795 |
| Shukla-Vernon Syndrome |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:301029 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus, Stereotypical hand wringing, Small for gestational age |
ORPHA:289266 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Hyperactivity, Umbilical hernia |
OMIM:617751 |
| Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy |
OMIM:300495 |
| Cri-Du-Chat Syndrome |
|
Motor stereotypy, Hypertonia, Hyperactivity, Inguinal hernia, Small for gestational age |
OMIM:123450 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Motor stereotypy, Failure to thrive, Ataxia, Hypertonia, Recurrent hand flapping, Attention defic... |
OMIM:300986 |
| Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
| Cln5 Disease |
|
Ataxia, Poor gross motor coordination, Hyperactivity, Clumsiness, Dysmetria, Dysdiadochokinesis, ... |
ORPHA:228360 |
| Galloway-Mowat Syndrome 6 |
|
Motor stereotypy, Decreased body weight |
OMIM:618347 |
| Smith-Magenis Syndrome |
|
Motor stereotypy, Increased body weight, Hyperactivity |
OMIM:182290 |
| Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Tics |
OMIM:617808 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Fasciculations, Upper motor neuron dysfunction, Abnormality of extrapyramidal m... |
ORPHA:275864 |
| Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Hyperactivity |
ORPHA:530983 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Recurrent hand flapping, Spasticity |
OMIM:618859 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617044 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping |
OMIM:615516 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy, Umbilical hernia, Diabetes mellitus |
ORPHA:500159 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Decreased body weight, Rigidity, Chorea, Progressive spasticity, Repeti... |
OMIM:300260 |
| Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Speech apraxia |
OMIM:618205 |
| 13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Hyperactivity, Congenital diaphragmatic hernia, Camptodactyly, Obesity |
ORPHA:412035 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Motor stereotypy, Hypertonia, Inguinal hernia, Joint contracture of the 4th finger, Cerebral pals... |
OMIM:618914 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Poor ... |
ORPHA:79264 |
| 2Q23.1 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Hyperactivity |
ORPHA:228402 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Tremor, Ataxia, Recurrent hand flapping, Poor coordination |
ORPHA:544254 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:618825 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity, Stereotypical hand wringing, Hypertonia |
OMIM:619854 |
| Cdkl5-Deficiency Disorder |
|
Stereotypical hand wringing |
ORPHA:505652 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hyperactivity disor... |
OMIM:619121 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Motor stereotypy, Hyperactivity, Overweight, Small for gestational age |
OMIM:617796 |
| D-Glyceric Aciduria |
|
Failure to thrive, Opisthotonus, Myoclonus, Tongue thrusting, Hypoglycemia, Spasticity, Spastic t... |
OMIM:220120 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Failure to thrive, Ataxia, Paraplegia |
ORPHA:927 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enamel hypoplasia, Motor stereotypy, Attention deficit hyperactivity disorder, Flexion contracture |
OMIM:619293 |
| X-Linked Creatine Transporter Deficiency |
|
Hypertonia, Ataxia, Hyperactivity, Cachexia, Chorea, Athetosis |
ORPHA:52503 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Ataxia, Hyperactivity, Recurrent hand flapping, Myoclonus, Tongue thrusting, Tremor, Obesity |
ORPHA:98794 |
| Kohlschutter-Tonz Syndrome-Like |
|
Motor stereotypy, Ataxia, Decreased body weight, Upper limb spasticity, Myoclonus, Stereotypical ... |
OMIM:619229 |
| Pick Disease Of Brain |
|
Motor stereotypy |
OMIM:172700 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity disorde... |
ORPHA:449291 |
| Fragile X Syndrome |
|
Hyperactivity, Recurrent hand flapping |
OMIM:300624 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Myoclonus |
ORPHA:411986 |
| Cystinosis |
|
Motor stereotypy, Failure to thrive, Abnormal pyramidal sign, Type I diabetes mellitus |
ORPHA:213 |
| 2Q37 Microdeletion Syndrome |
|
Motor stereotypy, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Umbi... |
ORPHA:1001 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Recurrent hand flapping, Tremor, Speech apraxia, Attention deficit hyperactivity dis... |
OMIM:619680 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Motor stereotypy, Failure to thrive, Ataxia, Hyperactivity, Recurrent hand flapping, Stereotypica... |
OMIM:300912 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, Hyperactivity, Spasticity |
OMIM:610042 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy |
OMIM:615637 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Recurrent hand flapping |
OMIM:617268 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Motor stereotypy, Failure to thrive, Hypertonia, Speech apraxia, Attention deficit hyperactivity ... |
OMIM:300352 |
| White-Sutton Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Congenital diaphragmatic hernia, Tics, Hypogl... |
OMIM:616364 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Ataxia, Cortical myoclonus, Hyperactivity, Myoclonus, Spasticity |
ORPHA:168491 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy, Tetraparesis |
ORPHA:85277 |
| Radio-Tartaglia Syndrome |
|
Motor stereotypy, Ataxia, Tremor, Attention deficit hyperactivity disorder, Obesity |
OMIM:619312 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
ORPHA:313892 |
| Helsmoortel-Van Der Aa Syndrome |
|
Motor stereotypy, Obesity, Hyperactivity |
OMIM:615873 |
| Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Recurrent hand flapping |
OMIM:618916 |
| Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
| Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy, Small for gestational age |
OMIM:613174 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Motor stereotypy, Incoordination, Gait ataxia, Umbilical hernia |
OMIM:616579 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Hamstring contractures, Ataxia, Hyperactivity, Dysmetria, Hoffmann sign, Ankle clonus, Hemiparesi... |
ORPHA:139396 |
| Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia, Eyelid myoclonus |
ORPHA:208447 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Failure to thrive, Hypertonia, Babinski sign, Enamel hypoplasia, Spasticity |
OMIM:615802 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Hyperactivity |
ORPHA:391307 |
| Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Hyperactivity |
OMIM:618027 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia |
OMIM:619877 |
| 4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Tremor |
ORPHA:238750 |
| Leber Congenital Amaurosis 1 |
|
Eye poking |
OMIM:204000 |
| 3P25.3 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder, Knee flexion contracture |
ORPHA:435638 |
| Smith-Magenis Syndrome |
|
Motor stereotypy, Obesity, Attention deficit hyperactivity disorder, Failure to thrive in infancy |
ORPHA:819 |
| Rett Syndrome |
|
Gait apraxia, Cachexia, Stereotypical hand wringing, Truncal ataxia, Gait ataxia, Spasticity |
OMIM:312750 |
| Rett Syndrome |
|
Motor stereotypy, Failure to thrive, Bradykinesia, Stereotypical hand wringing, Limb apraxia |
ORPHA:778 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Hyperactivity, Cerebral palsy, Stereotypical hand wringing, Obesity, Lower limb spasticity |
ORPHA:163681 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Gait ataxia, Spasticity |
OMIM:617807 |
| Leber Congenital Amaurosis 9 |
|
Macular scar, Eye poking |
OMIM:608553 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Motor stereotypy, Failure to thrive, Tremor, Gait ataxia, Attention deficit hyperactivity disorder |
ORPHA:476126 |
| White-Sutton Syndrome |
|
Motor stereotypy, Hyperactivity, Congenital diaphragmatic hernia, Inguinal hernia, Incoordination... |
ORPHA:468678 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Eyelid myoclonus, Spasticity, Chorea |
ORPHA:178469 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Ankle flexion contracture |
OMIM:617802 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Gait ataxia, Hyperactivity, Spasticity |
OMIM:300486 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Tremor, Attention deficit hyperactivity disorder |
OMIM:617061 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Motor stereotypy, Involuntary movements, Attention deficit hyperactivity disorder |
ORPHA:98784 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Ataxia, Head tremor |
OMIM:619428 |
| Rauch-Steindl Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity |
OMIM:619695 |
| 5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Arthrogryposis multiplex... |
ORPHA:496641 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hypertonia, Hyperactivity, Bradykinesia, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinsk... |
OMIM:610217 |
| Angelman Syndrome Due To A Point Mutation |
|
Obesity, Ataxia, Recurrent hand flapping, Tongue thrusting |
ORPHA:411511 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Attention deficit hyperactivity disorder, Spasticity, Repetitive compulsive behavior |
ORPHA:401777 |
| Transketolase Deficiency |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Type I diabetes mellitus |
ORPHA:488618 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Motor stereotypy, Ataxia, Hyperkinetic movements, Chorea, Hemiballismus, Athetoid cerebral palsy,... |
ORPHA:522077 |
| Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Chorea, Athetosis |
OMIM:619435 |
| Alazami Syndrome |
|
Motor stereotypy, Stereotypical hand wringing |
ORPHA:319671 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Stereotypical body rocking, Tongue thrusting, Camptodactyly, Failure to thrive in ... |
ORPHA:261323 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Hyperactivity, Hand tremor, Small for gestational age |
ORPHA:424 |
| 22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
ORPHA:1727 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Motor stereotypy, Multiple joint contractures, Hypertonia, Hyperactivity, Myoclonic spasms, Clonu... |
ORPHA:447997 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... |
OMIM:608643 |
| Bainbridge-Ropers Syndrome |
|
Motor stereotypy, Failure to thrive, Hypertonia, Recurrent hand flapping, Contracture of the prox... |
OMIM:615485 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Ataxia, Contracture of the proximal interphalangeal joint of the 4th toe, Motor ste... |
ORPHA:457279 |
| Angelman Syndrome |
|
Ataxia, Hyperactivity, Recurrent hand flapping, Myoclonus, Tongue thrusting, Tremor, Obesity |
ORPHA:72 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Spasticity, Tongue thrusting |
ORPHA:77299 |
| Leber Congenital Amaurosis 8 |
|
Eye poking |
OMIM:613835 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:619103 |
| Childhood Disintegrative Disorder |
|
Motor stereotypy |
ORPHA:168782 |
| Phelan-Mcdermid Syndrome |
|
Motor stereotypy, Cellulitis, Tongue thrusting |
OMIM:606232 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Hyperactivity, Blepharospasm, Bradykinesia, Babinski sign, Abnormal pyramidal sign, Parki... |
OMIM:234200 |
| Rett Syndrome, Congenital Variant |
|
Motor stereotypy, Tongue thrusting, Chorea, Athetosis, Spasticity, Apraxia |
OMIM:613454 |
| Kleefstra Syndrome |
|
Motor stereotypy, Obesity, Hernia |
ORPHA:261494 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Motor stereotypy, Spastic diplegia, Spasticity, Spastic tetraplegia, Oculomotor apra... |
ORPHA:300570 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy, Speech apraxia |
ORPHA:529965 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Motor stereotypy |
OMIM:616351 |
| 7Q11.23 Microduplication Syndrome |
|
Motor stereotypy, Hyperactivity, Congenital diaphragmatic hernia, Inguinal hernia, Dysmetria, Obe... |
ORPHA:96121 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Spastic tetraparesis, Failure to thrive, Stereotypical hand wringing |
OMIM:619179 |
| Familial Gestational Hyperthyroidism |
|
Weight loss, Hyperactivity, Hand tremor |
ORPHA:99819 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Motor stereotypy, Failure to thrive, Hypertonia |
OMIM:212066 |
| Autism, Susceptibility To, 3 |
|
Motor stereotypy |
OMIM:608049 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Motor stereotypy, Failure to thrive, Flexion contracture of finger, Small for gestational age, At... |
ORPHA:464311 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Motor stereotypy, Multiple joint contractures, Hypertonia, Severe failure to thrive, Camptodactyl... |
ORPHA:468631 |
| Childhood Absence Epilepsy |
|
Attention deficit hyperactivity disorder, Punding, Limb myoclonus |
ORPHA:64280 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Isometric tremor, Ataxia, Tics, Spasticity, Hypertonia, Decreased body weight, Hyperactivity, Int... |
OMIM:619475 |
| Kleefstra Syndrome 1 |
|
Motor stereotypy, Obesity |
OMIM:610253 |
| Distal Xq28 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Stereotypical body rocking |
ORPHA:293939 |
| Macrocephaly-Developmental Delay Syndrome |
|
Motor stereotypy |
ORPHA:397612 |
| Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Action tremor, Repetitive compulsive behavior, Neonatal hypoglycemia, Lower limb spasticity |
ORPHA:66634 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Motor stereotypy, Multiple joint contractures, Failure to thrive, Hyperactivity, Small for gestat... |
ORPHA:464306 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypoglycemia, Obesity, Motor stereotypy, Umbilical hernia |
OMIM:301066 |
| Hydroxykynureninuria |
|
Motor stereotypy, Hypertonia |
ORPHA:79155 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Failure to thrive, Motor stereotypy, Overweight |
OMIM:619575 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Motor stereotypy, Decreased body weight, Attention deficit hyperactivity disorder |
OMIM:619005 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Small for gestational age |
OMIM:609152 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Arthrogryposis multiplex congenita |
OMIM:619512 |
| Joubert Syndrome 6 |
|
Motor stereotypy, Oculomotor apraxia, Ataxia |
OMIM:610688 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy |
ORPHA:261144 |
| Developmental And Epileptic Encephalopathy 100 |
|
Motor stereotypy, Myoclonus, Chorea, Enamel hypoplasia, Bilateral camptodactyly, Choreoathetosis,... |
OMIM:619777 |
| Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Ataxia |
ORPHA:2479 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Motor stereotypy, Hyperactivity, Flexion contracture, Small for gestational age, Poor coordinatio... |
OMIM:309590 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Ataxia, Spastic diplegia, Limb hypertonia... |
OMIM:619950 |
| Wiedemann-Steiner Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity |
ORPHA:319182 |
| Dpagt1-Cdg |
|
Failure to thrive, Ataxia, Hypertonia, Flexion contracture, Stereotypical body rocking, Camptodac... |
ORPHA:86309 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Motor stereotypy, Spasticity, Umbilical hernia |
OMIM:301040 |
| Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Ataxia, Recurrent hand flapping, Abnormal pyramidal sign, Hypoglycemia, Tremor... |
ORPHA:3008 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Motor stereotypy, Hypertonia, Opisthotonus, Hypereosinophilia, Elbow flexion contracture |
ORPHA:508533 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Failure to thrive, Lower-limb joint contracture, Stereotypical body rocking, Ga... |
ORPHA:513456 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Motor stereotypy, Poor gross motor coordination, Ataxia, Hyperactivity, Hiatus hernia, Dysmetria,... |
OMIM:614756 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Motor stereotypy, Limb hypertonia, Spasticity |
ORPHA:457351 |
| Kinsship Syndrome |
|
Spastic tetraparesis, Failure to thrive, Myoclonus, Motor stereotypy |
OMIM:619297 |
| Pitt-Hopkins Syndrome |
|
Motor stereotypy, Incoordination, Gait ataxia |
OMIM:610954 |
| Prader-Willi Syndrome Due To Translocation |
|
Motor stereotypy, Obesity, Attention deficit hyperactivity disorder |
ORPHA:177907 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Motor stereotypy, Obesity, Inguinal hernia |
OMIM:618653 |
| Cardiofaciocutaneous Syndrome 1 |
|
Failure to thrive, Oculomotor apraxia, Tongue thrusting, Hypertonia |
OMIM:115150 |
| Bainbridge-Ropers Syndrome |
|
Hypertonia, Recurrent hand flapping |
ORPHA:352577 |
| Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Ataxia, Spasticity, Cataplexy |
OMIM:607625 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Tongue thrusting |
ORPHA:98795 |
| Developmental And Epileptic Encephalopathy 2 |
|
Motor stereotypy, Myoclonus |
OMIM:300672 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Motor stereotypy, Failure to thrive, Inguinal hernia, Attention deficit hyperactivity disorder, U... |
ORPHA:534 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Recurrent hand flapping |
OMIM:156200 |
| Mucopolysaccharidosis Type 2 |
|
Motor stereotypy, Flexion contracture of digit, Hyperactivity, Inguinal hernia, Contractures of t... |
ORPHA:580 |
| Van Esch-O'Driscoll Syndrome |
|
Motor stereotypy, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder, Spas... |
OMIM:301030 |
| Ogden Syndrome |
|
Torticollis, Hypertonia, Motor stereotypy, Inguinal hernia, Maternal diabetes, Umbilical hernia, ... |
OMIM:300855 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apraxia, Parkinsonism, Repetitive compulsive behavior |
OMIM:607485 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Stereotypical hand wringing |
OMIM:612337 |
| Mgat2-Cdg |
|
Failure to thrive, Stereotypical hand wringing |
ORPHA:79329 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Motor stereotypy, Ataxia, Dysmetria, Truncal ataxia, Speech apraxia, Gait ataxia |
OMIM:617330 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Motor stereotypy, Hypertonia, Congenital diaphragmatic hernia, Contracture of the proximal interp... |
OMIM:301044 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Failure to thrive, Obesity, Hemiparesis, Tongue thrusting |
ORPHA:369950 |
| Norrie Disease |
|
Motor stereotypy, Failure to thrive, Hypertonia, Cachexia, Clonus, Attention deficit hyperactivit... |
ORPHA:649 |
| Primrose Syndrome |
|
Motor stereotypy, Hip contracture, Glucose intolerance, Ataxia, Flexion contracture, Truncal obes... |
OMIM:259050 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Keloids, Obesity |
ORPHA:353281 |
| Lowe Oculocerebrorenal Syndrome |
|
Motor stereotypy, Failure to thrive, Joint contracture of the hand, Camptodactyly of finger, Enam... |
OMIM:309000 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypertonia, Ataxia, Inguinal hernia, Small for gestational age, Stereotypical hand wringing, Fail... |
ORPHA:268261 |
| Nmda Receptor Encephalitis |
|
Motor stereotypy, Opisthotonus, Myoclonus, Rigidity, Chorea, Choreoathetosis, Involuntary movements |
ORPHA:217253 |
| Tuberous Sclerosis Complex |
|
Shagreen patch, Hyperactivity, Repetitive compulsive behavior, Attention deficit hyperactivity di... |
ORPHA:805 |
| 1P36 Deletion Syndrome |
|
Motor stereotypy, Failure to thrive, Hemiplegia/hemiparesis, Camptodactyly of finger, Obesity |
ORPHA:1606 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Motor stereotypy |
ORPHA:508498 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Corneal scarring, Failure to thrive, Motor stereotypy, Hyperactivity, Keloids, Obesity |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Corneal scarring, Failure to thrive, Motor stereotypy, Hyperactivity, Keloids, Obesity |
ORPHA:353277 |
| Arboleda-Tham Syndrome |
|
Motor stereotypy, Lower limb hypertonia |
OMIM:616268 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Motor stereotypy, Ataxia |
OMIM:616393 |
| Coffin-Siris Syndrome 12 |
|
Motor stereotypy, Failure to thrive |
OMIM:619325 |
| Wolf-Hirschhorn Syndrome |
|
Motor stereotypy, Failure to thrive, Small for gestational age |
OMIM:194190 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Motor stereotypy |
OMIM:616682 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Failure to thrive, Inguinal hernia, Flexion... |
OMIM:619503 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:619522 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Exaggerated startle response, Myoclonus, Stereotypical hand wringing, Involunta... |
ORPHA:438213 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Motor stereotypy, Failure to thrive, Poor fine motor coordination, Flexion contracture, Camptodac... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Motor stereotypy, Ataxia, Decreased body weight, Flexion contracture, Camptodactyly, Spasticity |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Motor stereotypy, Failure to thrive, Poor fine motor coordination, Flexion contracture, Camptodac... |
ORPHA:261552 |
