Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
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 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypercholesterolemia |
ORPHA:181393 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hypercholesterolemia |
OMIM:612526 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617787 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Ataxia, Cataplexy, Memory impairment, Spasticity, Dementia |
OMIM:604121 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Bradykinesia, Cognitive impairment, Rigidity, Memory impairment, Falls, Tremor, Un... |
ORPHA:683 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity |
DECIPHER:8 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Inability to walk |
OMIM:606053 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:254531 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Hyperprolinemia, Hyperactivity, Ataxia |
OMIM:239500 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Inability to walk |
OMIM:617830 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Ataxia, Resting tremor, Mental deterioration, Babinski sign, Head tremor, Memory impa... |
ORPHA:314404 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Torticollis, Ataxia, Blepharospasm, Aceruloplasmine... |
OMIM:604290 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypoglycemia, Hyper... |
ORPHA:79237 |
Laron Syndrome |
|
Hypoglycemia, Hypercholesterolemia |
ORPHA:633 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Memory impairment, Gait disturbance, Fronto... |
OMIM:600795 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Difficulty walking, Spasticity |
OMIM:617393 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Mental deterioration, Abnormality of extrapyramidal motor function, Memory impa... |
ORPHA:275864 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Spastic tetraparesis |
OMIM:619470 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia, Unsteady gait |
OMIM:614063 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Paroxysmal dyskinesia |
OMIM:619150 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
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 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Involuntary movements, Inability to walk, Spasticity |
OMIM:617820 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor |
ORPHA:98807 |
Foxg1 Syndrome |
|
Motor stereotypy, Inability to walk, Cognitive impairment, Myoclonus, Hyperkinetic movements, Ste... |
ORPHA:561854 |
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 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Increased circulating free fatty acid level, Hypertriglyce... |
ORPHA:2457 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Increased C-peptide level, Hypertriglyceridemia, Diabetes mellitus, Insulin res... |
ORPHA:528 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... |
OMIM:618218 |
Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy, Cataplexy |
OMIM:223300 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Favorable response of weakness to acetylcholine esterase inhibitors, Elevated circulating creatin... |
ORPHA:353327 |
Childhood Disintegrative Disorder |
|
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Ment... |
ORPHA:168782 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Torticollis, Ataxia, Akinesia, Blepharospasm, Limb ... |
ORPHA:48818 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Niemann-Pick Disease Type C |
|
Narcolepsy, Ataxia, Cataplexy, Upper motor neuron dysfunction, Clumsiness, Cognitive impairment, ... |
ORPHA:646 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... |
OMIM:238600 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Babinski sign, Frontotemporal dementia, Spasticity |
OMIM:612069 |
Narcolepsy 3 |
|
Narcolepsy, Cataplexy |
OMIM:609039 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:96184 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia |
OMIM:615282 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder |
OMIM:613670 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Gait ataxia, Hyperactivity |
OMIM:609425 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Progressive langu... |
ORPHA:79264 |
Narcolepsy 1 |
|
Narcolepsy, Cataplexy |
OMIM:161400 |
Narcolepsy 7 |
|
Narcolepsy, Cataplexy |
OMIM:614250 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Hyperactivity, Spasticity, Chorea |
ORPHA:88616 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... |
ORPHA:280763 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Inability to walk, Hyperactivity, Tremor, Spasticity |
OMIM:618718 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Hypertrigly... |
OMIM:151660 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... |
OMIM:617695 |
Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Parkinsonism, Rigidity, Tremor, ... |
OMIM:613280 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Hyperactivity, Cerebral palsy, Attention deficit hyperactivity diso... |
ORPHA:352490 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, H... |
ORPHA:79240 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia |
OMIM:615812 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypercholesterolemia |
ORPHA:90065 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity |
OMIM:618917 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... |
OMIM:619317 |
Pick Disease Of Brain |
|
Motor stereotypy, Frontotemporal dementia |
OMIM:172700 |
Lysosomal Acid Lipase Deficiency |
|
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:619662 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Ataxia, Cortical myoclonus, Inability to walk, Hyperactivity, Mental deteriorat... |
ORPHA:168491 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus... |
OMIM:248370 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Hyperactivity |
OMIM:615541 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia |
OMIM:619092 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Acute hyperammonemia, Ataxia, Cognitive impairment, Hyperammonemia, Hyperglutam... |
ORPHA:927 |
Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Hypercholesterolemia |
ORPHA:69663 |
Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, Hyperactivity, Progressive language deterioration, Spasticity |
OMIM:610042 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Hypertriglyceridemia, Hyperchol... |
ORPHA:264580 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Recurrent hand flapping, Hyperactivity, Myoclonus, Cerebral palsy, Chorea, Atte... |
OMIM:617600 |
Sitosterolemia 1 |
|
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... |
OMIM:210250 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Spastic ataxia |
OMIM:618906 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait |
OMIM:618205 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, H... |
ORPHA:370 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Ataxia, Hyperactivity, Stereotypical hand wringing, Gait disturbance, Incoordin... |
OMIM:614104 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy |
OMIM:619690 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
Shukla-Vernon Syndrome |
|
Motor stereotypy, Broad-based gait, Attention deficit hyperactivity disorder |
OMIM:301029 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, Tremor, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618342 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron |
OMIM:231100 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Motor stereotypy, Involuntary movements, Attention deficit hyperactivity disorder, Cognitive impa... |
ORPHA:98784 |
Xq28 (MECP2) duplication |
|
Progressive spasticity, Motor stereotypy, Inability to walk, Gait ataxia |
DECIPHER:45 |
Rett Syndrome |
|
Motor stereotypy, Inability to walk, Bradykinesia, Hyperammonemia, Increased serum pyruvate, Ster... |
ORPHA:778 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy |
OMIM:300495 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Upper limb spasticity |
ORPHA:457240 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Myoclonus, Inability to walk |
ORPHA:411986 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn... |
ORPHA:2298 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertonia, Decreased circulating ferritin concentration, Action tremor, Bradykinesia, Poor fine ... |
ORPHA:309854 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Inability to walk, Recurrent hand flapping, Opisthotonus, Limb hyperton... |
OMIM:619580 |
Christianson Syndrome |
|
Motor stereotypy, Gait ataxia, Truncal ataxia |
ORPHA:85278 |
Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Hyperactivity |
ORPHA:530983 |
Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Difficulty walking, Gait ataxia, Spasticity, Unsteady gait |
OMIM:617807 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk |
OMIM:619877 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617044 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia |
OMIM:618857 |
Obesity, Hyperphagia, And Developmental Delay |
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Motor stereotypy |
OMIM:613886 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
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Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hyperactivity disor... |
OMIM:619121 |
African Trypanosomiasis |
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Narcolepsy, Akinesia, Hemiparesis, Gait disturbance, Tremor, Difficulty walking, Involuntary move... |
ORPHA:3385 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level |
ORPHA:90674 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypoglycemic seizures, Hyperuricemia, Xanthel... |
ORPHA:79259 |
2Q23.1 Microdeletion Syndrome |
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Motor stereotypy, Ataxia, Hyperactivity |
ORPHA:228402 |
Potocki-Lupski Syndrome |
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Motor stereotypy, Hypocholesterolemia, Hyperactivity |
OMIM:610883 |
48,Xxyy Syndrome |
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Motor stereotypy, Tremor, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:10 |
Lysinuric Protein Intolerance |
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Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... |
ORPHA:470 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
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Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:618825 |
Cystinosis |
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Motor stereotypy, Hypophosphatemia, Hypokalemia, Abnormal pyramidal sign, Gait disturbance |
ORPHA:213 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
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Motor stereotypy, Ataxia, Inability to walk, Rigidity, Chorea, Progressive spasticity, Repetitive... |
OMIM:300260 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
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Motor stereotypy, Hypertonia, Ataxia, Recurrent hand flapping, Gait disturbance, Attention defici... |
OMIM:300986 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
Cerebral Creatine Deficiency Syndrome 1 |
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Motor stereotypy, Hypertonia, Broad-based gait, Elevated circulating creatine concentration, Gait... |
OMIM:300352 |
Galloway-Mowat Syndrome 6 |
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Motor stereotypy, Hypoalbuminemia |
OMIM:618347 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
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Motor stereotypy |
OMIM:615637 |
X-Linked Intellectual Disability, Cantagrel Type |
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Motor stereotypy, Tetraparesis |
ORPHA:85277 |
Lysosomal Acid Lipase Deficiency |
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Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia |
ORPHA:275761 |
Inverted Duplicated Chromosome 15 Syndrome |
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Motor stereotypy, Hyperactivity |
ORPHA:3306 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Motor stereotypy, Attention deficit hyperactivity disorder |
ORPHA:313892 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Motor stereotypy, Hyperactivity |
OMIM:617751 |
Immunodeficiency 47 |
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Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Bilateral Generalized Polymicrogyria |
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Motor stereotypy, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia, Eyelid myoclonus |
ORPHA:208447 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Narcolepsy, Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Motor stereotypy, Hyperactivity |
ORPHA:391307 |
Coffin-Siris Syndrome 7 |
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Motor stereotypy, Hyperactivity |
OMIM:618027 |
4Q21 Microdeletion Syndrome |
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Motor stereotypy, Tremor |
ORPHA:238750 |
Radio-Tartaglia Syndrome |
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Motor stereotypy, Gait imbalance, Ataxia, Tremor, Attention deficit hyperactivity disorder |
OMIM:619312 |
Lipodystrophy, Familial Partial, Type 7 |
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Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Type I diabetes mellitus, ... |
OMIM:606721 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
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Motor stereotypy, Ataxia, Head tremor |
OMIM:619428 |
Cri-Du-Chat Syndrome |
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Motor stereotypy, Hypertonia, Difficulty walking, Hyperactivity |
OMIM:123450 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
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Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:619293 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
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Motor stereotypy, Broad-based gait |
OMIM:616351 |
Intellectual Developmental Disorder, X-Linked 98 |
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Motor stereotypy, Ataxia, Recurrent hand flapping, Hyperactivity, Stereotypical body rocking, Ste... |
OMIM:300912 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
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Motor stereotypy, Eyelid myoclonus, Spasticity, Chorea |
ORPHA:178469 |
Ritscher-Schinzel Syndrome 4 |
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Motor stereotypy, Ataxia, Chorea, Athetosis |
OMIM:619435 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Motor stereotypy, Gait ataxia, Hyperactivity, Spasticity |
OMIM:300486 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Motor stereotypy, Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity disorder |
ORPHA:449291 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Motor stereotypy, Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Hypercalcemia |
ORPHA:476126 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
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Motor stereotypy, Tremor, Attention deficit hyperactivity disorder |
OMIM:617061 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Motor stereotypy, Hyperactivity |
OMIM:617796 |
5Q14.3 Microdeletion Syndrome |
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Motor stereotypy |
ORPHA:228384 |
Niemann-Pick Disease, Type C2 |
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Motor stereotypy, Ataxia, Cataplexy, Spasticity, Dementia |
OMIM:607625 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Motor stereotypy, Inability to walk |
OMIM:617802 |
Proximal 16P11.2 Microdeletion Syndrome |
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Motor stereotypy, Speech apraxia, Choreoathetosis, Attention deficit hyperactivity disorder, Paro... |
ORPHA:261197 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia, Hyperaldosteronism |
ORPHA:534 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Motor stereotypy, Ataxia, Cataplexy, Elevated circulating creatine kinase concentration, Progress... |
ORPHA:496641 |
Kohlschutter-Tonz Syndrome-Like |
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Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Stereotypical hand wringing, Tremor, Spas... |
OMIM:619229 |
Beta-Thalassemia |
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Abnormality of iron homeostasis |
ORPHA:848 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Motor stereotypy, Inability to walk, Limb hypertonia, Spasticity, High nonceruloplasmin-bound ser... |
ORPHA:457351 |
Alazami Syndrome |
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Motor stereotypy, Stereotypical hand wringing |
ORPHA:319671 |
3P25.3 Microdeletion Syndrome |
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Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
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Motor stereotypy, Incoordination, Gait ataxia |
OMIM:616579 |
Helsmoortel-Van Der Aa Syndrome |
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Motor stereotypy, Hyperactivity |
OMIM:615873 |
Steinert Myotonic Dystrophy |
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Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Hypercholesterolemia |
ORPHA:273 |
Hydroxykynureninuria |
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Motor stereotypy, Hypertonia, Abnormal circulating tryptophan concentration |
ORPHA:79155 |
22Q11.2 Duplication Syndrome |
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Motor stereotypy, Attention deficit hyperactivity disorder |
ORPHA:1727 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Torticollis, Motor stereotypy, Inability to walk, Spastic diplegia, Spasticity, Spastic tetrapleg... |
ORPHA:300570 |
Rett Syndrome, Congenital Variant |
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Motor stereotypy, Tongue thrusting, Chorea, Athetosis, Spasticity, Apraxia |
OMIM:613454 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Motor stereotypy |
ORPHA:500159 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:465508 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Motor stereotypy, Hypertonia, Cerebral palsy |
OMIM:618914 |
Lowe Oculocerebrorenal Syndrome |
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Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Bicarbonatu... |
OMIM:309000 |
Alagille Syndrome 1 |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Chromosome 5P13 Duplication Syndrome |
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Motor stereotypy |
OMIM:613174 |
Transketolase Deficiency |
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Motor stereotypy, Attention deficit hyperactivity disorder, Elevated circulating ribitol concentr... |
ORPHA:488618 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Motor stereotypy, Ataxia, Hyperkinetic movements, Chorea, Hemiballismus, Athetoid cerebral palsy,... |
ORPHA:522077 |
Joubert Syndrome 6 |
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Motor stereotypy, Oculomotor apraxia, Ataxia |
OMIM:610688 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:619103 |
White-Sutton Syndrome |
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Motor stereotypy, Hyperactivity, Tics, Waddling gait |
OMIM:616364 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Isometric tremor, Ataxia, Falls, Tics, Spasticity, Broad-based gait, Hypertonia, Hyperactivity, H... |
OMIM:619475 |
Autism, Susceptibility To, 3 |
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Motor stereotypy |
OMIM:608049 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Motor stereotypy, Speech apraxia |
ORPHA:529965 |
Phelan-Mcdermid Syndrome |
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Motor stereotypy, Broad-based gait, Unsteady gait, Tongue thrusting |
OMIM:606232 |
Trichohepatoenteric Syndrome 1 |
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Cognitive impairment, Hypermethioninemia, Abnormality of iron homeostasis, Hypoalbuminemia, Incre... |
OMIM:222470 |
2Q37 Microdeletion Syndrome |
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Motor stereotypy, Attention deficit hyperactivity disorder |
ORPHA:1001 |
Macrocephaly-Developmental Delay Syndrome |
|
Motor stereotypy |
ORPHA:397612 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Motor stereotypy, Ataxia, Unsteady gait |
ORPHA:457279 |
Bainbridge-Ropers Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk, Recurrent hand flapping |
OMIM:615485 |
Rauch-Steindl Syndrome |
|
Motor stereotypy, Hyperactivity |
OMIM:619695 |
Developmental And Epileptic Encephalopathy 2 |
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Motor stereotypy, Myoclonus, Inability to walk |
OMIM:300672 |
Congenital Disorder Of Glycosylation, Type Iia |
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Motor stereotypy, Hypertonia, Unsteady gait |
OMIM:212066 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Motor stereotypy, Hypertonia, Babinski sign, Spasticity |
OMIM:615802 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy |
ORPHA:261144 |
Beta-Thalassemia Intermedia |
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Abnormality of iron homeostasis, Elevated hepatic iron concentration |
ORPHA:231222 |
Wiedemann-Steiner Syndrome |
|
Motor stereotypy, Hyperactivity, Psychomotor deterioration |
ORPHA:319182 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Motor stereotypy, Hypertonia, Hyperactivity, Myoclonic spasms, Clonus, Lower limb spasticity |
ORPHA:447997 |
Nmda Receptor Encephalitis |
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Motor stereotypy, Opisthotonus, Myoclonus, Rigidity, Memory impairment, Chorea, Choreoathetosis, ... |
ORPHA:217253 |
White-Sutton Syndrome |
|
Motor stereotypy, Incoordination, Hyperactivity |
ORPHA:468678 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... |
OMIM:619534 |
Pitt-Hopkins Syndrome |
|
Motor stereotypy, Incoordination, Gait ataxia |
OMIM:610954 |
7Q11.23 Microduplication Syndrome |
|
Motor stereotypy, Unsteady gait, Hyperactivity, Dysmetria |
ORPHA:96121 |
Kleefstra Syndrome 1 |
|
Motor stereotypy |
OMIM:610253 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk, Opisthotonus |
ORPHA:508533 |
Developmental And Epileptic Encephalopathy 100 |
|
Motor stereotypy, Myoclonus, Chorea, Choreoathetosis, Gait ataxia |
OMIM:619777 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Motor stereotypy, Broad-based gait, Ataxia, Poor gross motor coordination, Hyperactivity, Hand tr... |
OMIM:614756 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Motor stereotypy, Broad-based gait, Ataxia, Dysmetria, Truncal ataxia, Speech apraxia, Gait ataxia |
OMIM:617330 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:231226 |
Mucopolysaccharidosis Type 2 |
|
Motor stereotypy, Hyperactivity, Cognitive impairment, Mental deterioration, Progressive neurolog... |
ORPHA:580 |
Kleefstra Syndrome |
|
Motor stereotypy |
ORPHA:261494 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:619005 |
Van Esch-O'Driscoll Syndrome |
|
Motor stereotypy, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder, Spas... |
OMIM:301030 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Gait disturbance |
ORPHA:464311 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Motor stereotypy, Spasticity |
OMIM:301040 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis |
ORPHA:231214 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Motor stereotypy, Hyperactivity, Gait disturbance |
ORPHA:464306 |
Prader-Willi Syndrome Due To Translocation |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
ORPHA:177907 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Motor stereotypy, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Spasticity |
ORPHA:468631 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:619575 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Motor stereotypy, Hyperactivity |
OMIM:619512 |
Kinsship Syndrome |
|
Spastic tetraparesis, Myoclonus, Motor stereotypy |
OMIM:619297 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Broad-based gait, Stereotypical body rocking, Gait ataxia, Repetitive compulsiv... |
ORPHA:513456 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Motor stereotypy, Spastic diplegia, Hyperactivity, Poor coordination |
OMIM:309590 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Motor stereotypy, Unsteady gait |
OMIM:616682 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Motor stereotypy, Ataxia |
OMIM:616393 |
Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Motor stereotypy, Difficulty walking |
OMIM:618653 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Motor stereotypy |
OMIM:301066 |
Arboleda-Tham Syndrome |
|
Motor stereotypy, Gait imbalance, Lower limb hypertonia |
OMIM:616268 |
Ogden Syndrome |
|
Torticollis, Hypertonia, Motor stereotypy, Hyperbilirubinemia |
OMIM:300855 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Motor stereotypy |
ORPHA:508498 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Motor stereotypy, Social and occupational deterioration, Hyperactivity |
ORPHA:353281 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Spastic tetraparesis, Hypertonia, Motor stereotypy |
OMIM:301044 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:619522 |
1P36 Deletion Syndrome |
|
Motor stereotypy, Hemiplegia/hemiparesis, Gait disturbance |
ORPHA:1606 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Motor stereotypy, Social and occupational deterioration, Hyperactivity |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Motor stereotypy, Social and occupational deterioration, Hyperactivity |
ORPHA:353277 |
Norrie Disease |
|
Motor stereotypy, Hypertonia, Attention deficit hyperactivity disorder, Clonus |
ORPHA:649 |
Primrose Syndrome |
|
Motor stereotypy, Ataxia, Elevated alpha-fetoprotein, Tics, Attention deficit hyperactivity disorder |
OMIM:259050 |
Coffin-Siris Syndrome 12 |
|
Motor stereotypy |
OMIM:619325 |
Wolf-Hirschhorn Syndrome |
|
Motor stereotypy |
OMIM:194190 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Motor stereotypy, Broad-based gait, Inability to walk, Poor fine motor coordination, Spasticity |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Spasticity |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Motor stereotypy, Broad-based gait, Inability to walk, Poor fine motor coordination, Spasticity |
ORPHA:261552 |