Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior, Motor ste... |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverba... |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior, Motor ste... |
OMIM:300425 |
Autism |
|
Motor stereotypy, Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverba... |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverba... |
OMIM:608636 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608631 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Pachygyria, Impaired social interactions |
OMIM:606053 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, EEG abnormality, Poor eye contact, Involuntary movements, Spasticity, Impaired ... |
OMIM:617820 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Abnormal social behavior |
ORPHA:436151 |
Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior, Motor ste... |
OMIM:300495 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Hereditary Geniospasm |
|
Chin myoclonus, Abnormal social behavior |
ORPHA:53372 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Impaired social interactions, Hyperkinetic movements, Stereotypical hand wringing |
ORPHA:397933 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
Autism, Susceptibility To, 3 |
|
Motor stereotypy, Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverba... |
OMIM:608049 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Tremor, Chronic lacti... |
ORPHA:391417 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Hypsarrhythmia |
OMIM:617830 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Ataxia, Motor stereotypy |
OMIM:618709 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, EEG with focal epileptiform discharges, EEG with generalized epileptiform disch... |
ORPHA:88616 |
Foxg1 Syndrome |
|
Motor stereotypy, Poor eye contact, Myoclonus, Hyperkinetic movements, Stereotypical hand wringin... |
ORPHA:561854 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia |
OMIM:619150 |
Atypical Rett Syndrome |
|
EEG abnormality, Poor eye contact, Hand apraxia, Pill-rolling tremor, Stereotypical hand wringing... |
ORPHA:3095 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Poor eye contact |
OMIM:613886 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia, Polymicrogyria |
OMIM:615282 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Shyness, Spa... |
ORPHA:280763 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, Hyperkinetic movements, Choreoathetosis, Involuntary m... |
OMIM:618218 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor |
ORPHA:98807 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Cdkl5-Deficiency Disorder |
|
Multifocal epileptiform discharges, Poor eye contact, Stereotypical hand wringing |
ORPHA:505652 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, EEG abnormality |
OMIM:239500 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Spasticity |
OMIM:617393 |
Dopa-Responsive Dystonia |
|
Abnormal social behavior, Poor coordination, Abnormality of extrapyramidal motor function, Fatiga... |
ORPHA:255 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Spasticity, Hypsarrhythmia |
ORPHA:500545 |
Smith-Magenis syndrome |
|
Motor stereotypy |
DECIPHER:8 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Hypsarrhythmia |
OMIM:616341 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Ataxia, Poor eye contact, Limb ataxia, Poor coordination, Spasticity |
OMIM:617695 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Simplified gyral pattern, Motor stereotypy, Tremor |
OMIM:619470 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Ataxia, Poor eye contact, Continuous spike and waves during slow sleep, No soci... |
OMIM:619428 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Poor eye contact, Myoclonus, Hypsarrhythmia, Multifocal epileptiform discharges |
ORPHA:411986 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Reduced use of typical gestures, Pronoun reversal, Recurrent hand flapping, Clumsiness |
OMIM:615032 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
EEG abnormality, Stereotypical hand wringing, Chorea |
OMIM:618760 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia |
OMIM:614063 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Hyperkinetic moveme... |
OMIM:619317 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, EEG abnormality, Spasticity, Impaired social interactions |
OMIM:610042 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
Rett Syndrome, Congenital Variant |
|
Motor stereotypy, EEG abnormality, Poor eye contact, Chorea, Athetosis, Tongue thrusting, Spastic... |
OMIM:613454 |
Fraxe Intellectual Disability |
|
Clumsiness, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Impaired social interactions |
ORPHA:544254 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with focal spikes, Ataxia, Poor eye contact, Cerebral palsy, Stereotypical hand wringing, EEG... |
ORPHA:163681 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Tremor, EEG abnormality, Spasticity |
OMIM:618718 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing, Hypsarrhythmia |
OMIM:616056 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Speech apraxia |
OMIM:613670 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Gait ataxia, Recurrent hand flapping, Poor coordination |
OMIM:619717 |
Fragile X Syndrome |
|
Periventricular heterotopia, Poor eye contact, Recurrent hand flapping |
OMIM:300624 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Abnormal social behavior |
ORPHA:530983 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Gait ataxia |
OMIM:609425 |
Childhood Disintegrative Disorder |
|
Motor stereotypy, Impaired social interactions |
ORPHA:168782 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Cerebral palsy, Spasticity, Repetitive compulsive behavior |
ORPHA:352490 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, EEG with continuous slow activity, Fasciculations, Upper motor neuron dysfuncti... |
ORPHA:275864 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy |
OMIM:619690 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Gait ataxia, Poor eye contact, Spasticity |
OMIM:617807 |
Potocki-Lupski Syndrome |
|
Motor stereotypy, EEG abnormality, Poor eye contact |
OMIM:610883 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia |
OMIM:619092 |
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 Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity |
OMIM:618917 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Simplified gyral pattern, Hypsarrhythmia, Hypertonia |
OMIM:619877 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Motor stereotypy, Ataxia, Cortical myoclonus, EEG with spike-w... |
ORPHA:168491 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Poor ... |
ORPHA:79264 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Poor eye contact, Rigidity, Chorea, Progressive spasticity, Repetitive ... |
OMIM:300260 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, Poor eye contact, EEG with spike-wave complexes, EEG w... |
ORPHA:522077 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
EEG abnormality, Recurrent hand flapping |
OMIM:617268 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Decreased nerve conduction velocity, Abnormal social behavior, Intention tremor, Dece... |
ORPHA:309263 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Hypertonia, Ataxia, Abnormal social behavior, Myoclonus, Parkinsonism, Apraxia, Oculomotor apraxia |
ORPHA:1020 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Hand-leading gestures, Tics, Recurrent hand flapping |
OMIM:617788 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Babinski sign, Spasticity |
OMIM:612069 |
Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Recurrent hand flapping, Hypsarrhythmia |
OMIM:618916 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Myoclonus, Babinski sign, Rigidity |
OMIM:600795 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Decreased nerve conduction velocity, Abnormal social behavior, Decerebrate rigidity, ... |
ORPHA:309256 |
Developmental And Epileptic Encephalopathy 2 |
|
Motor stereotypy, Poor eye contact, Myoclonus, Hypsarrhythmia, EEG with generalized slow activity |
OMIM:300672 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Motor stereotypy, Oculomotor apraxia, Spastic diplegia, Polymicrogyria, Type II liss... |
ORPHA:300570 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... |
OMIM:238600 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Motor stereotypy, Ataxia, Poor eye contact, Recurrent hand flapping, Stereotypical body rocking, ... |
OMIM:300912 |
Childhood Absence Epilepsy |
|
EEG with spike-wave complexes (2.5-3.5 Hz), Punding, Limb myoclonus, Abnormal social behavior |
ORPHA:64280 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Overfriendliness, Incoordination, Motor stereotypy, Gait ataxia |
OMIM:616579 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Poor eye contact, Recurrent hand flapping, Shyness, Impaired social interactions |
ORPHA:449291 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Recurrent hand flapping, Spasticity |
OMIM:618859 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Decreased nerve conduction velocity, Abnormal social behavior, Intention tremor, Dece... |
ORPHA:309271 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy |
OMIM:615541 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus, EEG with multifocal slow activity, Stereotypical hand wringing |
ORPHA:289266 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Motor stereotypy, EEG abnormality, Poor eye contact, EEG with frontal sharp slow waves, Limb hype... |
ORPHA:457351 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Speech apraxia |
OMIM:618205 |
Radio-Tartaglia Syndrome |
|
Motor stereotypy, Ataxia, Gray matter heterotopia, Poor eye contact, Tremor |
OMIM:619312 |
Christianson Syndrome |
|
Motor stereotypy, Gait ataxia, Truncal ataxia |
ORPHA:85278 |
Rett Syndrome |
|
Motor stereotypy, EEG abnormality, Bradykinesia, Increased serum lactate, Stereotypical hand wrin... |
ORPHA:778 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Overfriendliness, Motor stereotypy |
OMIM:619293 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, Tremor |
OMIM:618342 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Incoordination, Ataxia, Stereotypical hand wringing |
OMIM:614104 |
Xq28 (MECP2) duplication |
|
Progressive spasticity, Motor stereotypy, Gait ataxia |
DECIPHER:45 |
Pick Disease Of Brain |
|
Motor stereotypy |
OMIM:172700 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
D-Glyceric Aciduria |
|
Opisthotonus, Metabolic acidosis, Myoclonus, Tongue thrusting, Spasticity, Hypsarrhythmia, Spasti... |
OMIM:220120 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy |
OMIM:615637 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hypertonia, Motor stereotypy |
OMIM:123450 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Tremor, Hyperkinetic movements, Upper limb spasticity |
ORPHA:457240 |
Hydroxykynureninuria |
|
Metabolic acidosis, Hypertonia, Motor stereotypy, Renal tubular acidosis |
ORPHA:79155 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Recurrent hand flapping, Myoclonus, Cerebral palsy, Chorea |
OMIM:617600 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
EEG abnormality, Oromotor apraxia, Spasticity, Repetitive compulsive behavior |
ORPHA:391372 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Spastic ataxia |
OMIM:618906 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Motor stereotypy, Speech apraxia, Choreoathetosis, Paroxysmal dyskinesia, Impaired social interac... |
ORPHA:261197 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
EEG with focal spikes, Motor stereotypy, Increased theta frequency activity in EEG, Involuntary m... |
ORPHA:98784 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Motor stereotypy, Hypertonia, Speech apraxia, Spasticity, Impaired social interactions, Poor hand... |
OMIM:300352 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy, Tetraparesis |
ORPHA:85277 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Chorea, Spasticity, Bilateral generalized polymicrogyria, Eyelid myoclonus |
ORPHA:178469 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Perisylvian polymicrogyria, Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Spastic t... |
OMIM:619121 |
Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Tics |
OMIM:617808 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
Kohlschutter-Tonz Syndrome-Like |
|
Motor stereotypy, Ataxia, EEG abnormality, EEG with focal spike waves, Upper limb spasticity, Myo... |
OMIM:619229 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia |
ORPHA:79237 |
48,Xxyy Syndrome |
|
Motor stereotypy, Tremor, Ataxia |
ORPHA:10 |
Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia, Eyelid myoclonus |
ORPHA:208447 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Tremor |
ORPHA:238750 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Recurrent hand flapping |
OMIM:620021 |
Leber Congenital Amaurosis 1 |
|
Eye poking |
OMIM:204000 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia |
OMIM:615812 |
Lysosomal Acid Lipase Deficiency |
|
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Tongue thrustin... |
OMIM:619580 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Ataxia, EEG abnormality, Recurrent hand flapping, Myoclonus, Tongue thrusting, EEG with abnormall... |
ORPHA:98794 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Polymicrogyria |
OMIM:617751 |
Galloway-Mowat Syndrome 6 |
|
Motor stereotypy |
OMIM:618347 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:619662 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy, Polymicrogyria |
ORPHA:500159 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Shukla-Vernon Syndrome |
|
Motor stereotypy |
OMIM:301029 |
Macrocephaly-Developmental Delay Syndrome |
|
Motor stereotypy, EEG with generalized slow activity |
ORPHA:397612 |
Angelman Syndrome |
|
Ataxia, EEG abnormality, Poor eye contact, Recurrent hand flapping, Myoclonus, Tongue thrusting, ... |
ORPHA:72 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Recurrent hand flapping |
OMIM:613192 |
Phelan-Mcdermid Syndrome |
|
Motor stereotypy, Impaired social interactions, Poor eye contact, Tongue thrusting |
OMIM:606232 |
Rett Syndrome |
|
EEG abnormality, Gait apraxia, Stereotypical hand wringing, Truncal ataxia, Gait ataxia, Spasticity |
OMIM:312750 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Interictal epileptiform activity |
OMIM:617802 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Paraplegia, Ataxia |
ORPHA:927 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... |
OMIM:608643 |
2Q23.1 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia |
ORPHA:228402 |
Distal Xq28 Microduplication Syndrome |
|
Poor eye contact, Stereotypical body rocking |
ORPHA:293939 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Motor stereotypy, Hypertonia, Ataxia, Recurrent hand flapping |
OMIM:300986 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
Sitosterolemia 1 |
|
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... |
OMIM:210250 |
Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Chorea, Athetosis |
OMIM:619435 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Motor stereotypy |
OMIM:618825 |
Angelman Syndrome Due To A Point Mutation |
|
Ataxia, EEG abnormality, Recurrent hand flapping, Tongue thrusting |
ORPHA:411511 |
Alazami Syndrome |
|
Motor stereotypy, Stereotypical hand wringing |
ORPHA:319671 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Hypertonia, Stereotypical hand wringing |
OMIM:619854 |
White-Sutton Syndrome |
|
Overfriendliness, Motor stereotypy, Tics |
OMIM:616364 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy |
ORPHA:3306 |
Coffin-Siris Syndrome 7 |
|
Motor stereotypy |
OMIM:618027 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Pyruvate Carboxylase Deficiency |
|
Ataxia, Poor eye contact, Recurrent hand flapping, Metabolic acidosis, Increased serum lactate, A... |
ORPHA:3008 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Motor stereotypy |
ORPHA:313892 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
EEG with focal epileptiform discharges, EEG abnormality, Tongue thrusting |
ORPHA:98795 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping |
OMIM:615516 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Motor stereotypy |
OMIM:617044 |
Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:613174 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Motor stereotypy, Hypertonia, Cerebral palsy |
OMIM:618914 |
Microphthalmia-Brain Atrophy Syndrome |
|
Spasticity, Tongue thrusting |
ORPHA:77299 |
Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality |
ORPHA:2479 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Tremor |
OMIM:617061 |
Leber Congenital Amaurosis 8 |
|
Eye poking |
OMIM:613835 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Impaired social interactions, Poor eye contact, Recurrent hand flapping |
OMIM:156200 |
Nmda Receptor Encephalitis |
|
Motor stereotypy, Opisthotonus, Myoclonus, No social interaction, Rigidity, Chorea, EEG with temp... |
ORPHA:217253 |
48,Xxxy Syndrome |
|
Tremor, Abnormal social behavior |
ORPHA:96263 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Hypertonia, Isometric tremor, EEG abnormality, Poor eye contact, Ataxia, Motor stere... |
OMIM:619475 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Motor stereotypy |
OMIM:617796 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy |
OMIM:618504 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Action tremor, Increased serum lactate, Repetitive compulsive behavior, Lower limb spasti... |
ORPHA:66634 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Motor stereotypy |
OMIM:616351 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Fasciculations, Tetraplegia |
ORPHA:496641 |
Developmental And Epileptic Encephalopathy 100 |
|
EEG with photoparoxysmal response, Motor stereotypy, Myoclonus, Polymicrogyria, Chorea, Choreoath... |
OMIM:619777 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy, Speech apraxia |
ORPHA:529965 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Van Esch-O'Driscoll Syndrome |
|
Motor stereotypy, Poor eye contact, Unilateral vocal cord paralysis, Shyness, Spasticity |
OMIM:301030 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy |
ORPHA:391307 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Abnormal pyramidal sign, Nonprogre... |
ORPHA:314647 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:79240 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:370 |
3P25.3 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia |
ORPHA:435638 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Motor stereotypy, Focal polymicrogyria |
OMIM:619103 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Spastic tetraparesis, Simplified gyral pattern, Pachygyria, Stereotypical hand wringing |
OMIM:619179 |
Cystinosis |
|
Motor stereotypy, Abnormal pyramidal sign |
ORPHA:213 |
Leber Congenital Amaurosis 9 |
|
Eye poking |
OMIM:608553 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Gait ataxia, Spasticity |
OMIM:300486 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Tremor, Speech apraxia, Recurrent hand flapping |
OMIM:619680 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:264580 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Motor stereotypy, Hypertonia, No social interaction, Opisthotonus |
ORPHA:508533 |
7Q11.23 Microduplication Syndrome |
|
Motor stereotypy, Simplified gyral pattern, Impaired social interactions, Dysmetria |
ORPHA:96121 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Spasticity, Repetitive compulsive behavior |
ORPHA:401777 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Hypertonia, Babinski sign, Spasticity |
OMIM:615802 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Motor stereotypy, Hypertonia, Periventricular heterotopia, Abnormal pyramidal sign, Hyperkinetic ... |
ORPHA:468631 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy |
ORPHA:261144 |
Helsmoortel-Van Der Aa Syndrome |
|
Motor stereotypy |
OMIM:615873 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Self-injurious behavior, Aggressive behavior, Hair-pulling |
OMIM:616393 |
Joubert Syndrome 6 |
|
Motor stereotypy, Oculomotor apraxia, Ataxia |
OMIM:610688 |
Bainbridge-Ropers Syndrome |
|
Motor stereotypy, Hypertonia, Recurrent hand flapping |
OMIM:615485 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Niemann-Pick Disease Type C |
|
Ataxia, Cataplexy, Upper motor neuron dysfunction, Clumsiness, Abnormal social behavior, Intentio... |
ORPHA:646 |
22Q11.2 Duplication Syndrome |
|
Motor stereotypy |
ORPHA:1727 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Multifocal epileptiform discharges, EEG abnormality, Hypertonia, Abnormal social behavior |
ORPHA:1675 |
Prader-Willi Syndrome Due To Translocation |
|
Motor stereotypy, Impaired social interactions, Abnormal social behavior |
ORPHA:177907 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... |
ORPHA:470 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Motor stereotypy, Hypertonia, EEG abnormality, Poor eye contact, Hypsarrhythmia, Spastic tetrapar... |
OMIM:301044 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Motor stereotypy, Ataxia |
ORPHA:457279 |
White-Sutton Syndrome |
|
Motor stereotypy, Incoordination, EEG abnormality |
ORPHA:468678 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Motor stereotypy, Tremor, Gait ataxia |
ORPHA:476126 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level |
ORPHA:90674 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Motor stereotypy, Hypertonia |
OMIM:212066 |
2Q37 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:1001 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Fg Syndrome Type 1 |
|
Abnormal social behavior |
ORPHA:93932 |
Kleefstra Syndrome 1 |
|
Motor stereotypy |
OMIM:610253 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
Pitt-Hopkins Syndrome |
|
Motor stereotypy, Incoordination, Gait ataxia |
OMIM:610954 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Motor stereotypy, Hypertonia, Myoclonic spasms, Hypsarrhythmia, Clonus, Lower limb spasticity |
ORPHA:447997 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia |
ORPHA:275761 |
Bainbridge-Ropers Syndrome |
|
Hypertonia, Recurrent hand flapping |
ORPHA:352577 |
Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Ataxia, Spasticity, Cataplexy |
OMIM:607625 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Motor stereotypy, EEG with occipital focal spikes, EEG with parietal focal spikes, EEG with centr... |
OMIM:301066 |
Kleefstra Syndrome |
|
Motor stereotypy |
ORPHA:261494 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Rauch-Steindl Syndrome |
|
Motor stereotypy |
OMIM:619695 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Metabolic acidosis, Motor stereotypy, Renal tubular acidosis |
OMIM:619575 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Motor stereotypy, Spasticity |
OMIM:301040 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Hypertriglyceridemia, Hyperuricemia, Xanthelasma, Hypercholesterolemia |
ORPHA:79259 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Stereotypical hand wringing |
OMIM:612337 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality |
OMIM:619005 |
Mend Syndrome |
|
Limb hypertonia, Abnormal auditory evoked potentials, Abnormal social behavior |
ORPHA:401973 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apraxia, Parkinsonism, Repetitive compulsive behavior |
OMIM:607485 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Cardiofaciocutaneous Syndrome 1 |
|
Hypertonia, Tongue thrusting, Oculomotor apraxia |
OMIM:115150 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Stereotypical body rocking, Tongue thrusting |
ORPHA:261323 |
Transketolase Deficiency |
|
Motor stereotypy |
ORPHA:488618 |
Mgat2-Cdg |
|
Stereotypical hand wringing, Hypsarrhythmia |
ORPHA:79329 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, EEG abnormality, Abnormal social behavior, EEG with focal epileptiform discharg... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, EEG abnormality, Abnormal social behavior, EEG with focal epileptiform discharg... |
ORPHA:363958 |
Kinsship Syndrome |
|
Spastic tetraparesis, Myoclonus, Motor stereotypy |
OMIM:619297 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Motor stereotypy, Ataxia, Dysmetria, Truncal ataxia, Speech apraxia, Gait ataxia |
OMIM:617330 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration, Motor stereotypy |
ORPHA:464311 |
Oculocerebrorenal Syndrome Of Lowe |
|
Motor stereotypy, EEG abnormality, Increased serum lactate, Proximal renal tubular acidosis, Clonus |
ORPHA:534 |
Choreoacanthocytosis |
|
Apathy, Head-banging, Self-injurious behavior, Irritability, Anxiety, Self-mutilation of tongue a... |
ORPHA:2388 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Stereotypical body rocking, Gait ataxia, Repetitive compulsive behavior, Pachyg... |
ORPHA:513456 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Motor stereotypy |
OMIM:619512 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Motor stereotypy, Impaired social interactions, EEG abnormality |
ORPHA:353281 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Ataxia, Spastic diplegia, Cerebral palsy, Limb hypertonia, Stereotypical hand wringing, Spasticit... |
OMIM:619950 |
Wiedemann-Steiner Syndrome |
|
Motor stereotypy |
ORPHA:319182 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Motor stereotypy |
ORPHA:464306 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Motor stereotypy |
ORPHA:508498 |
Dpagt1-Cdg |
|
Hypertonia, Ataxia, Stereotypical body rocking, Tremor, Hypsarrhythmia, EEG with generalized slow... |
ORPHA:86309 |
Ogden Syndrome |
|
Torticollis, Hypertonia, Motor stereotypy |
OMIM:300855 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Bicarbonatu... |
OMIM:309000 |
Tuberous Sclerosis Complex |
|
Repetitive compulsive behavior, Abnormal social behavior |
ORPHA:805 |
Arboleda-Tham Syndrome |
|
Motor stereotypy, Lower limb hypertonia |
OMIM:616268 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Motor stereotypy, Spastic diplegia, Poor coordination |
OMIM:309590 |
Mucopolysaccharidosis Type 2 |
|
Motor stereotypy, Decreased nerve conduction velocity |
ORPHA:580 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Motor stereotypy |
OMIM:618653 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Motor stereotypy, Impaired social interactions, EEG abnormality |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Motor stereotypy, Impaired social interactions, EEG abnormality |
ORPHA:353277 |
1P36 Deletion Syndrome |
|
Motor stereotypy, EEG abnormality, Hemiplegia/hemiparesis |
ORPHA:1606 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Poor gross motor coordination, Hand tremor, Dysmetria, Gait ataxia |
OMIM:614756 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Hemiparesis, Tongue thrusting |
ORPHA:369950 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Williams Syndrome |
|
Overfriendliness, Ataxia, Dysmetria, Abnormal social behavior, Tremor, Involuntary movements, Spa... |
ORPHA:904 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Motor stereotypy |
OMIM:616682 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypertonia, Ataxia, Stereotypical hand wringing |
ORPHA:268261 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... |
OMIM:619534 |
Mowat-Wilson Syndrome |
|
Motor stereotypy, Periventricular heterotopia, Ataxia, EEG with spike-wave complexes, Polymicrogy... |
ORPHA:2152 |
Wolf-Hirschhorn Syndrome |
|
Motor stereotypy, EEG abnormality |
OMIM:194190 |
Monosomy 22Q13.3 |
|
Hair-pulling |
ORPHA:48652 |
Coffin-Siris Syndrome 12 |
|
Motor stereotypy |
OMIM:619325 |
Norrie Disease |
|
Motor stereotypy, Hypertonia, EEG abnormality, Clonus |
ORPHA:649 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Motor stereotypy, Exaggerated startle response |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Stereotypical hand wringing, Myoclonus, Involuntary movements, Exaggerated startle response |
ORPHA:438213 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Motor stereotypy, Periventricular heterotopia, EEG abnormality, Poor fine motor coordination, Pol... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Motor stereotypy, Periventricular heterotopia, EEG abnormality, Poor fine motor coordination, Pol... |
ORPHA:261552 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
EEG abnormality, Stereotypical body rocking |
OMIM:619503 |
Primrose Syndrome |
|
Motor stereotypy, Ataxia, Tics |
OMIM:259050 |