| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... |
ORPHA:79506 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:306000 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... |
OMIM:610947 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia |
OMIM:232700 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:144300 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Type II diabetes mellitus, Decrea... |
OMIM:615703 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... |
OMIM:144250 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616829 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... |
ORPHA:98807 |
| Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes mellitus |
ORPHA:181393 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hypertriglyceridemia, Myoclonus,... |
OMIM:615924 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia |
OMIM:615863 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... |
OMIM:605814 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hypertriglyceridemia, Diabetes mellitus |
OMIM:612526 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Spastic tetraplegia, Babinski sign, Hyperactivity |
OMIM:616657 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Stereotypy, Hyperactivity |
OMIM:300271 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis |
OMIM:613370 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Glucose intolerance, Insulin resistance, Impaired glucose tolerance, Hypert... |
OMIM:606721 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... |
OMIM:616000 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity |
OMIM:615493 |
| Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:603776 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Dementia, Ataxia, Memory impairment, Cataplexy, Spasticity |
OMIM:604121 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Spasticity |
ORPHA:356996 |
| Ataxia With Vitamin 3 Deficiency |
|
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:277460 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Smith-Magenis syndrome |
|
Stereotypy, Hyperactivity |
DECIPHER:8 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Dementia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Myo... |
ORPHA:248111 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Stereotypy |
OMIM:606053 |
| Temple Syndrome |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia |
OMIM:616222 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Stereotypy, Attention deficit hyperactivity disorder, Ataxia |
OMIM:618709 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Dystonia, Gait disturbance, Frontotemporal dementia, Myoclonus, Babinski sign, Stereotypy, Memory... |
OMIM:600795 |
| Progressive Supranuclear Palsy |
|
Tremor, Dystonia, Dementia, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Unsteady... |
ORPHA:683 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... |
OMIM:616828 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Hyperprolinemia, Type I |
|
Stereotypy, Hyperprolinemia, Ataxia, Hyperactivity |
OMIM:239500 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Spastic diplegia, Stereotypy |
OMIM:617830 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Baker-Gordon Syndrome |
|
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... |
OMIM:618218 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Cogwheel rigidity, Dementia, Abnormality of extrapy... |
OMIM:604290 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity |
OMIM:618090 |
| Fraxe Intellectual Disability |
|
Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Hyperactivity |
ORPHA:100973 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Memory impairment, Abnormality of extrapyramidal motor function, Gait disturbance, Frontotemporal... |
ORPHA:275864 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... |
OMIM:618858 |
| Galactokinase Deficiency |
|
Hypercholesterolemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemi... |
ORPHA:79237 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy |
OMIM:619150 |
| N-Acetylaspartate Deficiency |
|
Unsteady gait, Truncal ataxia, Stereotypy |
OMIM:614063 |
| Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Stereotypy, Spasticity |
OMIM:617393 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... |
OMIM:207750 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Head tremor, Resting tremor, Ataxia, Babinski sign, Memory impairment, Mental deterio... |
ORPHA:314404 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hypertonia, Spastic tetraparesis, Hemiparesis, Hyperactivity |
OMIM:604317 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Stereotypy |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Stereotypy |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Stereotypy |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Stereotypy |
OMIM:608631 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Tremor, Dystonia, Transient hyperphenylalaninemia, Oculomotor apraxia, Ataxia, Hyperactivity, Cho... |
OMIM:612716 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Dystonia, Decreased circulating copper concentratio... |
ORPHA:48818 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Prog... |
ORPHA:363400 |
| Foxg1 Syndrome |
|
Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Myoclonus, Stereotypy, S... |
ORPHA:561854 |
| Autism, Susceptibility To, X-Linked 3 |
|
Stereotypy |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 2 |
|
Stereotypy |
OMIM:300495 |
| Autism, Susceptibility To, 8 |
|
Stereotypy |
OMIM:607373 |
| Autism, Susceptibility To, X-Linked 1 |
|
Stereotypy |
OMIM:300425 |
| Autism |
|
Stereotypy |
OMIM:209850 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Stereotypy |
OMIM:608636 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet... |
OMIM:606176 |
| Glycine Encephalopathy |
|
Lethargy, Myoclonus, Hyperglycinemia, Hyperactivity |
OMIM:605899 |
| Lennox-Gastaut Syndrome |
|
Falls, Mental deterioration, Myoclonus, Hyperactivity |
ORPHA:2382 |
| Mental Retardation, Autosomal Recessive 58 |
|
Choreoathetosis, Spastic diplegia, Stereotypy |
OMIM:617270 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia, Increased C-pep... |
ORPHA:528 |
| Childhood Disintegrative Disorder |
|
Dementia, Social and occupational deterioration, Motor deterioration, Stereotypy, Progressive lan... |
ORPHA:168782 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hyperinsulinemia, Glucose intolerance, Insulin resistance, Insulin-resistan... |
ORPHA:2457 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Tremor, Ataxia, Spasticity |
OMIM:300983 |
| Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Dystonia, Axial dystonia, Clumsiness, Speech apraxia, Upper... |
ORPHA:646 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Frontotemporal dementia, Babinski sign, Stereotypy, Spasticity |
OMIM:612069 |
| Mental Retardation, Autosomal Recessive 39 |
|
Stereotypy, Hyperactivity |
OMIM:615541 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Stereotypical hand wringing, Chorea, Dystonia, Inability to walk |
OMIM:618760 |
| Cln5 Disease |
|
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Trunc... |
ORPHA:228360 |
| Hypermanganesemia With Dystonia 1 |
|
Tremor, Dystonia, Increased total iron binding capacity, Spastic paraparesis, Abnormality of extr... |
OMIM:613280 |
| Atypical Rett Syndrome |
|
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... |
ORPHA:3095 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Stereotypy, Hyperactivity |
OMIM:609425 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Difficulty walking, Waddling gait, Babinski sign, Stereotypy, Progressive spastic parap... |
ORPHA:280763 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy, Cataplexy |
OMIM:223300 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Hyperlysinemia, Type I |
|
Cognitive impairment, Hyperlysinemia, Hyperactivity |
OMIM:238700 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity |
ORPHA:88616 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Attention deficit hyperactivity disorder, Stereotypy, Speech apraxia |
OMIM:613670 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dementia, Poor motor coordination, Poor fine motor coordination, Loss of ability to w... |
ORPHA:79264 |
| Landau-Kleffner Syndrome |
|
Gait ataxia, Speech apraxia, Steppage gait, Slurred speech, Social and occupational deterioration... |
ORPHA:98818 |
| Hyperlipoproteinemia, Type I |
|
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... |
OMIM:238600 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Tetraplegia, Hypertonia, Lethargy, Hyperactivity |
OMIM:274270 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Hypertonia, Spastic tetraplegia, Stereotypy |
OMIM:615282 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hypertonia, Stereotypy, Hyperactivity, Repetitive compulsive behavior, Cerebral palsy, Attention ... |
ORPHA:352490 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... |
ORPHA:412 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Dystonia, Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasti... |
OMIM:618917 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity |
OMIM:618718 |
| Narcolepsy 3 |
|
Narcolepsy, Cataplexy |
OMIM:609039 |
| Narcolepsy 1 |
|
Narcolepsy, Cataplexy |
OMIM:161400 |
| Developmental And Epileptic Encephalopathy 6B |
|
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Chore... |
OMIM:619317 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeostasis, Elevated... |
ORPHA:79230 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Hyperglutaminemia, Ataxia, Acute hyperammonemia, Hyperalaninemia, Stereotypy, Cognitive... |
ORPHA:927 |
| Congenital Analbuminemia |
|
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia |
ORPHA:86816 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... |
ORPHA:247598 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Inability to walk, Difficulty walking, Limb ataxia, Poor coordination, Ataxia, Stereotypy, Broad-... |
OMIM:617695 |
| Citrullinemia Type Ii |
|
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... |
ORPHA:247585 |
| Pick Disease Of Brain |
|
Frontotemporal dementia, Stereotypy |
OMIM:172700 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia |
OMIM:615812 |
| Narcolepsy 7 |
|
Narcolepsy, Cataplexy |
OMIM:614250 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Postprandial hyperglycemia, Hyperlipidemia, Glycosuria |
ORPHA:2089 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
ORPHA:209902 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia... |
OMIM:151660 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Inability to walk, Hoffmann sign, Apraxia, Difficulty walking, Gait disturbance, Spastic tetrapar... |
ORPHA:139396 |
| Sotos Syndrome 3 |
|
Hyperactivity |
OMIM:617169 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... |
OMIM:278000 |
| Rasmussen Subacute Encephalitis |
|
Inability to walk, Hemidystonia, Hemiparesis, Hyperactivity, Involuntary movements, Memory impair... |
ORPHA:1929 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... |
ORPHA:64753 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:608600 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hyperglycemia |
ORPHA:90065 |
| X-Linked Adrenoleukodystrophy |
|
Incoordination, Clumsiness, Dementia, Paraparesis, Gait disturbance, Hemiparesis, Paralysis, Hype... |
ORPHA:43 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertri... |
OMIM:604367 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cortical myoclonus, Inability to walk, Dementia, Gait disturbance, Ataxia, Motor deterioration, M... |
ORPHA:168491 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Sitosterolemia 1 |
|
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration |
OMIM:210250 |
| Developmental And Epileptic Encephalopathy 30 |
|
Stereotypy |
OMIM:616341 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... |
ORPHA:500180 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy |
OMIM:619092 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling gait, Broad... |
ORPHA:3077 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... |
OMIM:262190 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Progressive language deterioration, Ataxia, Stereotypy, Hyperactivity, Spasticity |
OMIM:610042 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity |
OMIM:301013 |
| Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Babinski sign, Spasticity |
OMIM:617773 |
| Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:613313 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia, Elevated circulat... |
ORPHA:264580 |
| Optic Atrophy 11 |
|
Dysmetria, Hyperkinetic movements, Ataxia, Hyperactivity |
OMIM:617302 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... |
ORPHA:382 |
| Mental Retardation, Autosomal Recessive 41 |
|
Stereotypy |
OMIM:615637 |
| Infantile Neuroaxonal Dystrophy |
|
Dystonia, Psychomotor deterioration, Spastic tetraparesis, Abnormal pyramidal sign, Gait disturba... |
ORPHA:35069 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Chorea, Hypertonia, Bradykinesia, Dysme... |
OMIM:610217 |
| Gand Syndrome |
|
Tics, Hyperactivity |
OMIM:615074 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Tics, Hypertonia, Unsteady gait, Hyperactivity, Broad-based gait |
OMIM:617865 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, F... |
ORPHA:370 |
| Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Stereotypy, Speech apraxia |
OMIM:618205 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Stereotypy, Involuntary movements, Cognitive impairment, Attention deficit h... |
ORPHA:98784 |
| Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Stereotypy, Broad-based gait |
OMIM:301029 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Stereotypy, Hyperactivity |
OMIM:618504 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated circulating gamma-aminobutyric acid concentration, Hyperkinetic movements, Ataxia, Hyper... |
OMIM:271980 |
| Phenylketonuria |
|
Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disorder, ... |
OMIM:261600 |
| Mental Retardation, Autosomal Dominant 7 |
|
Incoordination, Gait disturbance, Ataxia, Stereotypy, Hyperactivity, Stereotypical hand wringing |
OMIM:614104 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Stereotypy, Hyperactivity, Ataxia, Spasticity |
OMIM:300912 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618906 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Dementia, Abnormality of extrapyramidal moto... |
OMIM:234200 |
| Rett Syndrome |
|
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Increased serum pyruvate, Gait dis... |
ORPHA:778 |
| Bilateral Generalized Polymicrogyria |
|
Dystonia, Eyelid myoclonus, Paroxysmal dyskinesia, Oculogyric crisis, Spastic tetraplegia, Stereo... |
ORPHA:208447 |
| Christianson Syndrome |
|
Dystonia, Gait ataxia, Truncal ataxia, Stereotypy |
ORPHA:85278 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Spastic paraplegia, Upper limb spasticity, Lower limb spasticity, Neonatal hyperbilirubinemia, Ba... |
OMIM:609727 |
| Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Mody |
|
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... |
ORPHA:552 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Mental Retardation, Autosomal Recessive 38 |
|
Unsteady gait, Recurrent hand flapping, Hyperactivity |
OMIM:615516 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Chorea, Progressive cerebellar ataxia, Lower limb spasticity, Unsteady gai... |
ORPHA:485350 |
| Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Tongue fasciculations, Fatigable weakness of skelet... |
ORPHA:166108 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy, Blepharospasm, Limb tremor, Torticollis, Limb hypertonia, Exaggerated startle response,... |
OMIM:608643 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617044 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dysdiadochokinesis, Dystonia, Increased total iron binding capacity, Truncal ataxia, Spastic para... |
ORPHA:309854 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Dystonia, Gait ataxia, Difficulty walking, Unsteady gait, Stereotypy, Spasticity |
OMIM:617807 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Eyelid myoclonus, Oculogyric crisis, Stereotypy, Spasticity |
ORPHA:178469 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy |
ORPHA:457240 |
| Lamb-Shaffer Syndrome |
|
Stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction |
ORPHA:530983 |
| X-Linked Creatine Transporter Deficiency |
|
Dystonia, Chorea, Hypertonia, Abnormal circulating creatine concentration, Ataxia, Hyperactivity,... |
ORPHA:52503 |
| Xq28 (MECP2) duplication |
|
Inability to walk, Progressive spasticity, Gait ataxia, Stereotypy |
DECIPHER:45 |
| Niemann-Pick Disease, Type C2 |
|
Dystonia, Dementia, Abnormal circulating cholesterol concentration, Ataxia, Stereotypy, Cataplexy... |
OMIM:607625 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait, Spasticity |
ORPHA:457260 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Stereotypy |
OMIM:613886 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Ataxia, Hyperactivity |
ORPHA:411515 |
| Coffin-Siris Syndrome 6 |
|
Tics, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617808 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Myoclonus, Stereotypy |
ORPHA:411986 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
| 48,Xxyy Syndrome |
|
Stereotypy, Tremor, Attention deficit hyperactivity disorder, Ataxia |
ORPHA:10 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... |
ORPHA:2298 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal central motor function, Spastic paraparesis, Hypouricemia, Hypertonia, Ataxia, Hyperacti... |
ORPHA:760 |
| Myoclonic-Astatic Epilepsy |
|
Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperact... |
ORPHA:1942 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Ataxia, Tongue thrusting, Myoclonus, Recurrent hand flapping, Hyperactivity, Gait imbalan... |
ORPHA:98794 |
| 2Q23.1 Microdeletion Syndrome |
|
Stereotypy, Ataxia, Hyperactivity |
ORPHA:228402 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia |
ORPHA:90674 |
| Gomez-Lopez-Hernandez Syndrome |
|
Cognitive impairment, Hypertonia, Ataxia, Hyperactivity |
OMIM:601853 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypomagnesemia, Hypokalemia, Hyperactivity |
OMIM:618314 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apraxia, Frontotemporal dementia, Parkinsonism, Progressive language deterioration, Memory impair... |
OMIM:607485 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Hyperglyci... |
ORPHA:470 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Stereotypy, Hyperactivity |
OMIM:610883 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hypoglycemia, Hypertrigl... |
ORPHA:79259 |
| Cystinosis |
|
Hypophosphatemia, Gait disturbance, Abnormal pyramidal sign, Hypokalemia, Stereotypy |
ORPHA:213 |
| African Trypanosomiasis |
|
Tremor, Narcolepsy, Akinesia, Difficulty walking, Gait disturbance, Hemiparesis, Paralysis, Invol... |
ORPHA:3385 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Truncal ataxia, Spastic gait, Spastic tetraplegia, Dysmetria, Stereotypy, Babinski sign, Scissor ... |
OMIM:619121 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait, Spasticity |
OMIM:300958 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Stereotypy, Hyperactivity |
ORPHA:3306 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:313892 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Tetraplegia, Abnormal pyramidal sign, Hyperactivity |
ORPHA:369939 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Stereotypy, Hyperactivity |
ORPHA:391307 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Stereotypy |
ORPHA:238750 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Tetraparesis, Stereotypy |
ORPHA:85277 |
| Hyperlysinemia |
|
Tremor, Hypoornithinemia, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic dipl... |
ORPHA:2203 |
| Mental Retardation, Autosomal Dominant 40 |
|
Gait ataxia, Stereotypy |
OMIM:616579 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Dystonia, Gait disturbance, Poor hand-eye coordination, Stereotypy, Attention deficit hyperactivi... |
OMIM:300352 |
| Radio-Tartaglia Syndrome |
|
Tremor, Ataxia, Stereotypy, Gait imbalance, Attention deficit hyperactivity disorder |
OMIM:619312 |
| Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hypercholesterolemia, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia |
ORPHA:275761 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Inability to walk, Chorea, Ataxia, Lower limb spasticity, Stereotypy, Progressive spasticity, Rep... |
OMIM:300260 |
| Cri-Du-Chat Syndrome |
|
Difficulty walking, Hypertonia, Stereotypy, Hyperactivity |
OMIM:123450 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Dystonia, Speech apraxia, Paroxysmal dyskinesia, Stereotypy, Choreoathetosis, Attention deficit h... |
ORPHA:261197 |
| Pyruvate Carboxylase Deficiency |
|
Tremor, Dystonia, Hypernatremia, Hypoglutaminemia, Abnormal pyramidal sign, Increased level of L-... |
ORPHA:3008 |
| Symptomatic Form Of Fragile X Syndrome In Female Carrier |
|
Attention deficit hyperactivity disorder, Recurrent hand flapping, Stereotypy, Hyperactivity |
ORPHA:449291 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:619293 |
| Adenylosuccinase Deficiency |
|
Inability to walk, Gait ataxia, Opisthotonus, Myoclonus, Hyperactivity, Spasticity |
OMIM:103050 |
| Brain-Lung-Thyroid Syndrome |
|
Dystonia, Apraxia, Clumsiness, Incoordination, Hyperactivity, Chorea, Ataxia, Falls, Myoclonus, I... |
ORPHA:209905 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Elevated circulating creatine kinase concentration, Ataxia, Stereotypy, Fasciculations,... |
ORPHA:496641 |
| Mental Retardation, Autosomal Dominant 34 |
|
Stereotypy, Broad-based gait |
OMIM:616351 |
| Choreoacanthocytosis |
|
Hypertonia, Head titubation, Progressive inability to walk, Falls, Hyperactivity, Elevated circul... |
ORPHA:2388 |
| Mucopolysaccharidosis, Type Iiib |
|
Progressive neurologic deterioration, Hyperactivity |
OMIM:252920 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Inability to walk, Dystonia, Spastic ataxia, Spastic diplegia, Oculomotor apraxia, Torticollis, S... |
ORPHA:300570 |
| Mental Retardation, Autosomal Dominant 48 |
|
Stereotypy |
OMIM:617751 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Gait ataxia, Hypercalcemia, Stereotypy, Attention deficit hyperactivity disorder |
ORPHA:476126 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Limb hypertonia, Limb dystonia, Stereotypy, High nonceruloplasmin-bound serum ... |
ORPHA:457351 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Narcolepsy, Hyperlipidemia |
ORPHA:293987 |
| Rett Syndrome, Congenital Variant |
|
Dystonia, Apraxia, Chorea, Tongue thrusting, Stereotypy, Athetosis, Spasticity |
OMIM:613454 |
| Chromosome 15Q25 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:614294 |
| Helsmoortel-Van Der Aa Syndrome |
|
Stereotypy, Hyperactivity |
OMIM:615873 |
| 5Q14.3 Microdeletion Syndrome |
|
Stereotypy |
ORPHA:228384 |
| Alazami Syndrome |
|
Stereotypical hand wringing, Stereotypy |
ORPHA:319671 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeostasis, Elevated... |
ORPHA:465508 |
| Hydroxykynureninuria |
|
Hypertonia, Abnormal circulating tryptophan concentration, Stereotypy |
ORPHA:79155 |
| Kohlschutter-Tonz Syndrome-Like |
|
Inability to walk, Tremor, Upper limb spasticity, Ataxia, Lower limb spasticity, Myoclonus, Stere... |
OMIM:619229 |
| 3P25.3 Microdeletion Syndrome |
|
Stereotypy, Attention deficit hyperactivity disorder, Ataxia |
ORPHA:435638 |
| 22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:1727 |
| Mucopolysaccharidosis, Type Iiic |
|
Motor deterioration, Hyperactivity |
OMIM:252930 |
| Angelman Syndrome |
|
Inability to walk, Tremor, Ataxia, Tongue thrusting, Myoclonus, Recurrent hand flapping, Hyperact... |
ORPHA:72 |
| Angelman Syndrome |
|
Clumsiness, Progressive gait ataxia, Limb tremor, Hyperactivity, Broad-based gait |
OMIM:105830 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hyperaldosteronism, Hypokalemia |
ORPHA:534 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Dystonia, Chorea, Hyperkinetic movements, Hemiballismus, Ataxia, Stereotypy, Athetoid cerebral pa... |
ORPHA:522077 |
| Transketolase Deficiency |
|
Attention deficit hyperactivity disorder, Elevated circulating ribitol concentration, Stereotypy |
ORPHA:488618 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia, Diabetes mellitus, Hyperinsulinemia, Insulin resistance |
ORPHA:273 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:848 |
| Argininemia |
|
Hyperammonemia, Spastic paraparesis, Progressive spastic quadriplegia, Hyperargininemia, Spastic ... |
OMIM:207800 |
| Autism, Susceptibility To, 3 |
|
Stereotypy |
OMIM:608049 |
| Chromosome 5P13 Duplication Syndrome |
|
Stereotypy |
OMIM:613174 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Hypertonia, Cerebral palsy, Stereotypy |
OMIM:618914 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:619103 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Stereotypy |
ORPHA:500159 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Mucopolysaccharidosis Type 3 |
|
Progressive neurologic deterioration, Vocal cord paresis, Fatigable weakness of swallowing muscle... |
ORPHA:581 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Spasticity |
OMIM:300486 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Stereotypy, Speech apraxia |
ORPHA:529965 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Stereotypy |
OMIM:618825 |
| Phelan-Mcdermid Syndrome |
|
Unsteady gait, Tongue thrusting, Stereotypy, Broad-based gait |
OMIM:606232 |
| 2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:1001 |
| Macrocephaly-Developmental Delay Syndrome |
|
Stereotypy |
ORPHA:397612 |
| Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia, Cognitive impairment, Incre... |
OMIM:222470 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Stereotypy, Unsteady gait, Ataxia |
ORPHA:457279 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Stereotypy |
ORPHA:261144 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Unsteady gait, Hypertonia, Stereotypy |
OMIM:212066 |
| Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Myoclonus, Stereotypy |
OMIM:300672 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hypertonia, Lower limb spasticity, Stereotypy, Hyperactivity, Clonus, Myoclonic spasms |
ORPHA:447997 |
| Homozygous Familial Hypercholesterolemia |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia |
ORPHA:391665 |
| Lowe Oculocerebrorenal Syndrome |
|
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Bicarbonaturia, Elevated materna... |
OMIM:309000 |
| Wiedemann-Steiner Syndrome |
|
Psychomotor deterioration, Stereotypy, Hyperactivity |
ORPHA:319182 |
| White-Sutton Syndrome |
|
Incoordination, Stereotypy, Hyperactivity |
ORPHA:468678 |
| Beta-Thalassemia Intermedia |
|
Elevated hepatic iron concentration, Abnormality of iron homeostasis |
ORPHA:231222 |
| 7Q11.23 Microduplication Syndrome |
|
Stereotypy, Unsteady gait, Dysmetria, Hyperactivity |
ORPHA:96121 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Hypertonia, Babinski sign, Stereotypy, Spasticity |
OMIM:615802 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Opisthotonus, Hypertonia, Stereotypy |
ORPHA:508533 |
| Kleefstra Syndrome 1 |
|
Stereotypy |
OMIM:610253 |
| Familial Gestational Hyperthyroidism |
|
Hand tremor, Hyperactivity |
ORPHA:99819 |
| Mucopolysaccharidosis Type 2 |
|
Progressive neurologic deterioration, Stereotypy, Hyperactivity, Cognitive impairment, Mental det... |
ORPHA:580 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hand tremor, Hyperactivity |
ORPHA:424 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:619005 |
| Kleefstra Syndrome |
|
Stereotypy |
ORPHA:261494 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Gait ataxia, Truncal ataxia, Speech apraxia, Ataxia, Stereotypy, Dysmetria, Broad-based gait |
OMIM:617330 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:231226 |
| Early Infantile Epileptic Encephalopathy |
|
Episodic ataxia, Tremor, Dystonia, Myoclonus, Hyperactivity, Choreoathetosis, Spasticity |
ORPHA:1934 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Gait disturbance, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:464311 |
| Histidinemia |
|
Hyperhistidinemia, Hyperactivity |
ORPHA:2157 |
| Cerebellar Ataxia, Nonprogressive, With Mental Retardation |
|
Poor motor coordination, Ataxia, Unsteady gait, Dysmetria, Hyperactivity |
OMIM:614756 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Gait disturbance, Stereotypy, Hyperactivity |
ORPHA:464306 |
| Ogden Syndrome |
|
Hypertonia, Stereotypy |
OMIM:300855 |
| Prader-Willi Syndrome Due To Translocation |
|
Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:177907 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Stereotypy, Spasticity |
ORPHA:468631 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis |
ORPHA:231214 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Gait ataxia, Stereotypy, Repetitive compulsive behavior, Stereotypical body rocking, Broad-based ... |
ORPHA:513456 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Poor coordination, Spastic diplegia, Stereotypy, Hyperactivity |
OMIM:309590 |
| Arboleda-Tham Syndrome |
|
Lower limb hypertonia, Gait imbalance, Stereotypy |
OMIM:616268 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Unsteady gait, Stereotypy |
OMIM:616682 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Difficulty walking, Stereotypy |
OMIM:618653 |
| Kinsship Syndrome |
|
Spastic tetraparesis, Myoclonus, Stereotypy |
OMIM:619297 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Stereotypy |
ORPHA:508498 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Social and occupational deterioration, Stereotypy, Hyperactivity |
ORPHA:353281 |
| 1P36 Deletion Syndrome |
|
Hemiplegia/hemiparesis, Gait disturbance, Stereotypy |
ORPHA:1606 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Social and occupational deterioration, Stereotypy, Hyperactivity |
ORPHA:353277 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Social and occupational deterioration, Stereotypy, Hyperactivity |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome 1 |
|
Unsteady gait, Poor coordination, Stereotypy, Hyperactivity |
OMIM:180849 |
| Norrie Disease |
|
Clonus, Hypertonia, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:649 |
| Coffin-Siris Syndrome 12 |
|
Stereotypy |
OMIM:619325 |
| Wolf-Hirschhorn Syndrome |
|
Stereotypy |
OMIM:194190 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Hypertonia, Spastic tetraparesis, Stereotypy |
OMIM:301044 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Inability to walk, Poor fine motor coordination, Spasticity, Stereotypy, Broad-based gait |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Inability to walk, Spasticity, Ataxia, Stereotypy, Broad-based gait |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Inability to walk, Poor fine motor coordination, Spasticity, Stereotypy, Broad-based gait |
ORPHA:261552 |
