| 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 |
|
Motor stereotypy |
OMIM:613886 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hyperactivity disor... |
OMIM:619121 |
| African Trypanosomiasis |
|
Narcolepsy, Akinesia, Hemiparesis, Gait disturbance, Tremor, Difficulty walking, Involuntary move... |
ORPHA:3385 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level |
ORPHA:90674 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypoglycemic seizures, Hyperuricemia, Xanthel... |
ORPHA:79259 |
| 2Q23.1 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Hyperactivity |
ORPHA:228402 |
| Potocki-Lupski Syndrome |
|
Motor stereotypy, Hypocholesterolemia, Hyperactivity |
OMIM:610883 |
| 48,Xxyy Syndrome |
|
Motor stereotypy, Tremor, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:10 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... |
ORPHA:470 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:618825 |
| Cystinosis |
|
Motor stereotypy, Hypophosphatemia, Hypokalemia, Abnormal pyramidal sign, Gait disturbance |
ORPHA:213 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Inability to walk, Rigidity, Chorea, Progressive spasticity, Repetitive... |
OMIM:300260 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Motor stereotypy, Hypertonia, Ataxia, Recurrent hand flapping, Gait disturbance, Attention defici... |
OMIM:300986 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Motor stereotypy, Hypertonia, Broad-based gait, Elevated circulating creatine concentration, Gait... |
OMIM:300352 |
| Galloway-Mowat Syndrome 6 |
|
Motor stereotypy, Hypoalbuminemia |
OMIM:618347 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy |
OMIM:615637 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy, Tetraparesis |
ORPHA:85277 |
| Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia |
ORPHA:275761 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy, Hyperactivity |
ORPHA:3306 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
ORPHA:313892 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Hyperactivity |
OMIM:617751 |
| Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
| Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia, Eyelid myoclonus |
ORPHA:208447 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy, Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Hyperactivity |
ORPHA:391307 |
| Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Hyperactivity |
OMIM:618027 |
| 4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Tremor |
ORPHA:238750 |
| Radio-Tartaglia Syndrome |
|
Motor stereotypy, Gait imbalance, Ataxia, Tremor, Attention deficit hyperactivity disorder |
OMIM:619312 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Type I diabetes mellitus, ... |
OMIM:606721 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Ataxia, Head tremor |
OMIM:619428 |
| Cri-Du-Chat Syndrome |
|
Motor stereotypy, Hypertonia, Difficulty walking, Hyperactivity |
OMIM:123450 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:619293 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Motor stereotypy, Broad-based gait |
OMIM:616351 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Motor stereotypy, Ataxia, Recurrent hand flapping, Hyperactivity, Stereotypical body rocking, Ste... |
OMIM:300912 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Eyelid myoclonus, Spasticity, Chorea |
ORPHA:178469 |
| Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Chorea, Athetosis |
OMIM:619435 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Gait ataxia, Hyperactivity, Spasticity |
OMIM:300486 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity disorder |
ORPHA:449291 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Motor stereotypy, Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Hypercalcemia |
ORPHA:476126 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Tremor, Attention deficit hyperactivity disorder |
OMIM:617061 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Motor stereotypy, Hyperactivity |
OMIM:617796 |
| 5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
| Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Ataxia, Cataplexy, Spasticity, Dementia |
OMIM:607625 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Inability to walk |
OMIM:617802 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Motor stereotypy, Speech apraxia, Choreoathetosis, Attention deficit hyperactivity disorder, Paro... |
ORPHA:261197 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia, Hyperaldosteronism |
ORPHA:534 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Elevated circulating creatine kinase concentration, Progress... |
ORPHA:496641 |
| Kohlschutter-Tonz Syndrome-Like |
|
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Stereotypical hand wringing, Tremor, Spas... |
OMIM:619229 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:848 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Motor stereotypy, Inability to walk, Limb hypertonia, Spasticity, High nonceruloplasmin-bound ser... |
ORPHA:457351 |
| Alazami Syndrome |
|
Motor stereotypy, Stereotypical hand wringing |
ORPHA:319671 |
| 3P25.3 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:435638 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Motor stereotypy, Incoordination, Gait ataxia |
OMIM:616579 |
| Helsmoortel-Van Der Aa Syndrome |
|
Motor stereotypy, Hyperactivity |
OMIM:615873 |
| Steinert Myotonic Dystrophy |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Hypercholesterolemia |
ORPHA:273 |
| Hydroxykynureninuria |
|
Motor stereotypy, Hypertonia, Abnormal circulating tryptophan concentration |
ORPHA:79155 |
| 22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
ORPHA:1727 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Motor stereotypy, Inability to walk, Spastic diplegia, Spasticity, Spastic tetrapleg... |
ORPHA:300570 |
| Rett Syndrome, Congenital Variant |
|
Motor stereotypy, Tongue thrusting, Chorea, Athetosis, Spasticity, Apraxia |
OMIM:613454 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy |
ORPHA:500159 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:465508 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Motor stereotypy, Hypertonia, Cerebral palsy |
OMIM:618914 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Bicarbonatu... |
OMIM:309000 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
| Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:613174 |
| Transketolase Deficiency |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Elevated circulating ribitol concentr... |
ORPHA:488618 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Motor stereotypy, Ataxia, Hyperkinetic movements, Chorea, Hemiballismus, Athetoid cerebral palsy,... |
ORPHA:522077 |
| Joubert Syndrome 6 |
|
Motor stereotypy, Oculomotor apraxia, Ataxia |
OMIM:610688 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:619103 |
| White-Sutton Syndrome |
|
Motor stereotypy, Hyperactivity, Tics, Waddling gait |
OMIM:616364 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Isometric tremor, Ataxia, Falls, Tics, Spasticity, Broad-based gait, Hypertonia, Hyperactivity, H... |
OMIM:619475 |
| Autism, Susceptibility To, 3 |
|
Motor stereotypy |
OMIM:608049 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy, Speech apraxia |
ORPHA:529965 |
| Phelan-Mcdermid Syndrome |
|
Motor stereotypy, Broad-based gait, Unsteady gait, Tongue thrusting |
OMIM:606232 |
| Trichohepatoenteric Syndrome 1 |
|
Cognitive impairment, Hypermethioninemia, Abnormality of iron homeostasis, Hypoalbuminemia, Incre... |
OMIM:222470 |
| 2Q37 Microdeletion Syndrome |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
ORPHA:1001 |
| Macrocephaly-Developmental Delay Syndrome |
|
Motor stereotypy |
ORPHA:397612 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
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 |
|
Motor stereotypy, Myoclonus, Inability to walk |
OMIM:300672 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Motor stereotypy, Hypertonia, Unsteady gait |
OMIM:212066 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Hypertonia, Babinski sign, Spasticity |
OMIM:615802 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy |
ORPHA:261144 |
| Beta-Thalassemia Intermedia |
|
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 |
|
Motor stereotypy, Hypertonia, Hyperactivity, Myoclonic spasms, Clonus, Lower limb spasticity |
ORPHA:447997 |
| Nmda Receptor Encephalitis |
|
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 |
