Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608631 |
Pick Disease Of Brain |
|
Motor stereotypy, Apathy, Frontotemporal dementia, Emotional blunting, Disinhibition, Inappropria... |
OMIM:172700 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavio... |
ORPHA:401901 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300425 |
Autism |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608636 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, D... |
OMIM:615483 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... |
ORPHA:280397 |
Childhood Disintegrative Disorder |
|
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Abno... |
ORPHA:168782 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Mental deterioration, Abnormality of ex... |
ORPHA:275864 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Impaired social interactions |
OMIM:606053 |
Creutzfeldt-Jakob Disease |
|
Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, Anxiety, Hemiparesis, Memory imp... |
OMIM:123400 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Babinski sign, Disinhibition, Spasticity, Emotional lability, Frontotem... |
OMIM:612069 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior |
OMIM:617270 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Cognitive impairment, Depression, Parkinsonism, Memory impairment, Choreoathetosis, Involuntary m... |
OMIM:616413 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Inappropriate behavior, Memory impa... |
OMIM:600795 |
Smith-Magenis syndrome |
|
Motor stereotypy, Self-mutilation |
DECIPHER:8 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Huntington Disease-Like 2 |
|
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Irritability, Dementia |
OMIM:606438 |
Geniospasm 1 |
|
Chin myoclonus, Anxiety |
OMIM:190100 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Depression, Spinal myoclonus, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Pers... |
ORPHA:36899 |
Huntington Disease-Like 1 |
|
Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Incoordination, Dementia |
OMIM:603218 |
Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor |
OMIM:159900 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Rigidity, Dementia |
OMIM:605909 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Parkinsonism with favorable response to dopaminergic medication, Anxiety, Chorea |
ORPHA:494541 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Inappropriate crying, Hyperkinetic movements, Stereotypical hand wringin... |
ORPHA:397933 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Chorea, Benign Hereditary |
|
Anxiety, Chorea |
OMIM:118700 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... |
ORPHA:324575 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia, Self-mutilation |
OMIM:614063 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Memory impairment, Motor det... |
ORPHA:412066 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Self-injurious behavior, Poor eye contact, Involuntary movements, Spasticity, I... |
OMIM:617820 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Mental deterioration, Myoclonus, Anxiety |
OMIM:619191 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety,... |
OMIM:604326 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Aggressive behavior, Inappropriate laughter,... |
OMIM:619150 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Impulsivity, Stereotypical body rocking, Poor coordination, Aggressive b... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Clumsiness, Impulsivity, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavior |
ORPHA:100973 |
Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300495 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Separat... |
ORPHA:66624 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Spasticity, Irritability |
OMIM:617393 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc... |
ORPHA:276580 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc... |
ORPHA:276575 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia |
OMIM:615282 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... |
OMIM:604367 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density, Increased insulin like growth... |
OMIM:619489 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Partial agenesis of the corpus callosum, Postnatal growth retardation, Intrauterine growth retard... |
OMIM:233810 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Emotional lability |
OMIM:128235 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Babinski sign, Parkinsonism, Chorea... |
OMIM:618093 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, Aggressive behavior |
OMIM:239500 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... |
ORPHA:293964 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Increased bone mineral density |
OMIM:618406 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, Stereotypical hand wringing, Chorea |
OMIM:618760 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... |
OMIM:619725 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor |
ORPHA:98807 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Increased C-peptide l... |
ORPHA:276556 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature |
OMIM:618160 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Tremor, Motor stereotypy, Aggressive behavior |
OMIM:619470 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apathy, Progressive language deterioration, Parkinsonism, Memory impairment, Hypersexuality, Disi... |
OMIM:607485 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Aggressive behavior |
OMIM:613670 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Poor eye contact |
OMIM:613886 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
Progressive Non-Fluent Aphasia |
|
Depression, Mental deterioration, Abnormality of extrapyramidal motor function, Anxiety, Parkinso... |
ORPHA:100070 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Osteoporosis, Delayed puberty, Delayed thelarche, Dorsocervical fa... |
OMIM:616033 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Spasticity, Irritability |
ORPHA:500545 |
Foxg1 Syndrome |
|
Motor stereotypy, Poor eye contact, Cognitive impairment, Inappropriate crying, Myoclonus, Hyperk... |
ORPHA:561854 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Hyperkinetic movements, Choreoathetosis, Invol... |
OMIM:618218 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus |
ORPHA:79084 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Atypical Rett Syndrome |
|
Poor eye contact, Inappropriate crying, Hand apraxia, Pill-rolling tremor, Panic attack, Stereoty... |
ORPHA:3095 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Anxiety, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Autism, Susceptibility To, 3 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608049 |
Posterior Cortical Atrophy |
|
Ataxia, Anxiety, Memory impairment, Speech apraxia, Limb apraxia, Oculomotor apraxia, Inertia |
ORPHA:54247 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Abnormal C-pept... |
ORPHA:552 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Bone cyst, Increased C-peptid... |
ORPHA:528 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia |
OMIM:617830 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia |
OMIM:618709 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Impulsivity, Poor coordination, Gait ataxia, Irritability |
OMIM:619717 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Dysmetria, Cognitive impairment, Depression, Spastic paraparesis, Dysdiadoc... |
OMIM:615157 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Clumsiness, Poor fine motor coordination, Progressive language deterioration, C... |
ORPHA:79264 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... |
OMIM:606324 |
Estrogen Resistance |
|
Glucose intolerance, Osteopenia, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Self-injurious behavior, Stereotypical hand wringing, Chorea, Gait ataxia, Spas... |
OMIM:618917 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Anxiety, Spastic ataxia |
OMIM:618906 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... |
OMIM:619738 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy, Self-injurious behavior |
OMIM:619690 |
Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, Progressive language deterioration, Spasticity, Aggressive behavior, Im... |
OMIM:610042 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:151660 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Self-injurious behavior, Tremor, Spasticity, Paroxysmal bursts of laughter |
OMIM:618718 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... |
OMIM:608612 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... |
ORPHA:363400 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Motor stereotypy, Cognitive impairment, Depression, Anxiety, Suicidal ideation, Involuntary movem... |
ORPHA:98784 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... |
ORPHA:231144 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Happy demeanor, Ataxia, Poor eye contact, Limb ataxia, Poor coordination, Spast... |
OMIM:617695 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Impulsivity, Depression, Chorea, Spasticity |
ORPHA:88616 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Anxiety, Pronoun reversal |
OMIM:615032 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity |
ORPHA:791 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... |
OMIM:262190 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Choreoacanthocytosis |
|
Progressive choreoathetosis, Anxiety, Parkinsonism, Disinhibition, Self-mutilation of tongue and ... |
OMIM:200150 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... |
ORPHA:309246 |
Fragile X Tremor/Ataxia Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Depression,... |
OMIM:300623 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Aggressive behavior |
OMIM:615541 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, Hy... |
OMIM:248370 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Hypertonia, Ataxia, Semantic dementia, Abnormal social behavior, Myoclonus, Parkinsonism, Memory ... |
ORPHA:1020 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Resting tremor, Parkinsonism, Tremor, Aggressive behavior... |
ORPHA:3077 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, I... |
ORPHA:79237 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Depression, Myoclonus, Anxiety |
OMIM:616398 |
Cdkl5-Deficiency Disorder |
|
Inappropriate laughter, Poor eye contact, Stereotypical hand wringing |
ORPHA:505652 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity |
ORPHA:3085 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Shyness, Spa... |
ORPHA:280763 |
Perry Syndrome |
|
Apathy, Bradykinesia, Depression, Anxiety, Parkinsonism, Inappropriate behavior, Rigidity, Tremor... |
OMIM:168605 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Inappropriate laughter, Recurrent hand flapping, Spasticity |
OMIM:618859 |
Xq28 (MECP2) duplication |
|
Motor stereotypy, Depression, Anxiety, Progressive spasticity, Gait ataxia |
DECIPHER:45 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Tremor, Upper lim... |
ORPHA:457240 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy, Anxiety, Self-injurious behavior |
OMIM:615637 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Recurrent hand flapping, Cerebral palsy, Anxiety, Myoclonus, Chorea |
OMIM:617600 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Delayed epiphyseal ossification, Hyperinsulinemia, Absence of pubertal devel... |
ORPHA:785 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Unicameral... |
ORPHA:79086 |
Mpi-Cdg |
|
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Depression,... |
ORPHA:449291 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Happy demeanor, Ataxia, Impulsivity, Recurrent hand flapping, Opisthotonus, Lim... |
OMIM:619580 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Flexion contracture, Osteopenia, Elevated circulating creati... |
OMIM:613327 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Inguinal hernia |
ORPHA:2849 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Motor stereotypy, Self-injurious behavior |
OMIM:617044 |
Young-Onset Parkinson Disease |
|
Apathy, Impulsivity, Bradykinesia, Cognitive impairment, Depression, Anxiety, Panic attack, Rigid... |
ORPHA:2828 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Ataxia, Cortical myoclonus, Mental deterioration, Myoclonus, Anxiety, Low frust... |
ORPHA:168491 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Depression, Anxiety, Low self esteem, Limb myoclonus, Punding |
ORPHA:64280 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Ataxia, Cognitive impairment, Anxiety, Paraplegia, Emotional lability |
ORPHA:927 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Poor eye contact, Progressive language deterioration, Self-mutilation, Mental deteriorati... |
ORPHA:163681 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Happy demeanor, Ataxia, Stereotypical hand wringing, Incoordination, Inappropri... |
OMIM:614104 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Christianson Syndrome |
|
Conspicuously happy disposition, Motor stereotypy, Truncal ataxia, Gait ataxia, Inappropriate lau... |
ORPHA:85278 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia |
OMIM:619092 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancr... |
OMIM:246200 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Myoclonus, Hyperkinetic movements, Chorea, Choreoathetosis |
OMIM:619317 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:203800 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Motor stereotypy, Anxiety, Self-injurious behavior, Aggressive behavior |
ORPHA:313892 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Happy demeanor, Poor eye contact, Gait ataxia, Spasticity |
OMIM:617807 |
Macrocephaly-Developmental Delay Syndrome |
|
Motor stereotypy, Anxiety, Self-injurious behavior |
ORPHA:397612 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Self-injurious behavior, Recurrent hand flapping |
OMIM:617268 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Impaired social interactions |
ORPHA:544254 |
Fragile X Syndrome |
|
Poor eye contact, Recurrent hand flapping, Self-biting |
OMIM:300624 |
Rett Syndrome, Congenital Variant |
|
Motor stereotypy, Poor eye contact, Inappropriate crying, Chorea, Athetosis, Tongue thrusting, Sp... |
OMIM:613454 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Cys... |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... |
OMIM:269700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Poor eye contact, Depression, Anxiety, Rigidity, Chorea, Hostility, Pro... |
OMIM:300260 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Cerebral palsy, Spasticity, Repetitive compulsive behavior |
ORPHA:352490 |
Alazami Syndrome |
|
Motor stereotypy, Anxiety, Stereotypical hand wringing, Self-mutilation |
ORPHA:319671 |
2Q23.1 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Paroxysmal bursts of laughter |
ORPHA:228402 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Hand-leading gestures, Tics, Aggressive behavior, Recurrent hand flapping |
OMIM:617788 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Reduced subcutaneous adipose tiss... |
ORPHA:769 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Conspicuously happy disposition, Hypertonia, Ataxia, Motor stereotypy, Self-injurious behavior, R... |
OMIM:300986 |
Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Anxiety, Tics |
OMIM:617808 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Motor stereotypy, Aggressive behavior |
OMIM:618825 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Myoclonus, Poor eye contact |
ORPHA:411986 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Motor stereotypy, Hypertonia, Impulsivity, Self-injurious behavior, Cerebral palsy, Aggressive be... |
OMIM:618914 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy, Tetraparesis |
ORPHA:85277 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, Tremor, Aggressive behavior |
OMIM:618342 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Aggressive behavior, Irritability |
ORPHA:391307 |
Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Abnormal social behavior |
ORPHA:530983 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... |
OMIM:608643 |
Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Self-injurious behavior, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia... |
ORPHA:208447 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Aggressive behavior, Spastic tetraple... |
OMIM:619121 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Tremor, Self-injurious behavior |
ORPHA:238750 |
Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Speech apraxia |
OMIM:618205 |
Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Poor eye contact, Stereotypical body rocking, Depression, Anxiety, Self-biting, Aggr... |
ORPHA:293939 |
Microphthalmia-Brain Atrophy Syndrome |
|
Spasticity, Tongue thrusting, Inappropriate crying |
ORPHA:77299 |
48,Xxyy Syndrome |
|
Motor stereotypy, Ataxia, Depression, Anxiety, Tremor |
ORPHA:10 |
Galloway-Mowat Syndrome 6 |
|
Motor stereotypy, Paroxysmal bursts of laughter |
OMIM:618347 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Ataxia, Poor eye contact, No social interaction, Head tremor |
OMIM:619428 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Motor stereotypy, Ataxia, Poor eye contact, Recurrent hand flapping, Stereotypical body rocking, ... |
OMIM:300912 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy, Aggressive behavior, Self-biting |
ORPHA:3306 |
Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Recurrent hand flapping |
OMIM:618916 |
Angelman Syndrome Due To A Point Mutation |
|
Happy demeanor, Ataxia, Recurrent hand flapping, Tongue thrusting, Inappropriate laughter |
ORPHA:411511 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Recurrent hand flapping |
OMIM:620021 |
Cri-Du-Chat Syndrome |
|
Conspicuously happy disposition, Overfriendliness, Hypertonia, Motor stereotypy, Self-mutilation,... |
OMIM:123450 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... |
ORPHA:230 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Self-injurious behavior, Chorea, Spasticity, Eyelid myoclonus |
ORPHA:178469 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Glycosuria, Osteolytic defects of the phalanges of the hand, Abnormality of cir... |
ORPHA:79474 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Leprechaunism |
|
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Hyperinsuline... |
ORPHA:508 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Anxiety, Oromotor apraxia, Spasticity, Repetitive compulsive behavior |
ORPHA:391372 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Head-banging, Self-mutilation |
OMIM:182290 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... |
ORPHA:2126 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Self-mutilation, Gait ataxia, Spasticity, Low frustration tolerance |
OMIM:300486 |
Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Impulsivity, Chorea, Athetosis, Aggressive behavior |
OMIM:619435 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Happy demeanor, Ataxia, Recurrent hand flapping, Myoclonus, Tongue thrusting, Tremor, Inappropria... |
ORPHA:98794 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Happy demeanor, Recurrent hand flapping, Tremor, Speech apraxia, Aggressive behavior |
OMIM:619680 |
Leber Congenital Amaurosis 1 |
|
Eye poking |
OMIM:204000 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hyperlipidemia, Decreased response ... |
ORPHA:3464 |
Shukla-Vernon Syndrome |
|
Motor stereotypy |
OMIM:301029 |
Rett Syndrome |
|
Gait apraxia, Stereotypical hand wringing, Truncal ataxia, Motor deterioration, Gait ataxia, Spas... |
OMIM:312750 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia |
OMIM:619877 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus, Stereotypical hand wringing |
ORPHA:289266 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Abdominal obesity, Precocious puberty, Type II diabetes mellitus, Hyperins... |
OMIM:176270 |
Nmda Receptor Encephalitis |
|
Motor stereotypy, Opisthotonus, Depression, Myoclonus, Anxiety, No social interaction, Rigidity, ... |
ORPHA:217253 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Motor stereotypy, Hypertonia, Speech apraxia, Aggressive behavior, Spasticity, Impaired social in... |
OMIM:300352 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Hypertonia, Stereotypical hand wringing |
OMIM:619854 |
Potocki-Lupski Syndrome |
|
Motor stereotypy, Poor eye contact |
OMIM:610883 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Overfriendliness, Incoordination, Motor stereotypy, Gait ataxia |
OMIM:616579 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Motor stereotypy, Ataxia, Poor eye contact, Self-mutilation, Hyperkinetic movements, Chorea, Self... |
ORPHA:522077 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Recurrent hand flapping |
OMIM:613192 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy, Speech apraxia |
ORPHA:529965 |
Radio-Tartaglia Syndrome |
|
Motor stereotypy, Ataxia, Impulsivity, Poor eye contact, Tremor, Aggressive behavior |
OMIM:619312 |
22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Anxiety |
ORPHA:1727 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Motor stereotypy, Anxiety, Irritability |
OMIM:617796 |
Leber Congenital Amaurosis 8 |
|
Eye poking |
OMIM:613835 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy |
OMIM:618504 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Overfriendliness, Motor stereotypy, Low frustration tolerance |
OMIM:619293 |
Angelman Syndrome |
|
Happy demeanor, Ataxia, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Myocl... |
ORPHA:72 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Motor stereotypy, Spastic diplegia, Delayed social development, Spasticity, Spastic ... |
ORPHA:300570 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Tremor, Self-injurious behavior, Aggressive behavior |
OMIM:617061 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling |
OMIM:616393 |
Hydroxykynureninuria |
|
Motor stereotypy, Hypertonia |
ORPHA:79155 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Motor stereotypy, Speech apraxia, Choreoathetosis, Paroxysmal dyskinesia, Impaired social interac... |
ORPHA:261197 |
Rauch-Steindl Syndrome |
|
Motor stereotypy, Anxiety, Aggressive behavior |
OMIM:619695 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Motor stereotypy, Hypertonia, Hair-pulling, Myoclonic spasms, Clonus, Lower limb spasticity, Irri... |
ORPHA:447997 |
White-Sutton Syndrome |
|
Overfriendliness, Motor stereotypy, Self-injurious behavior, Anxiety, Tics, Aggressive behavior, ... |
OMIM:616364 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Motor stereotypy, Self-injurious behavior, Poor eye contact, Limb hypertonia, Spasticity |
ORPHA:457351 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Motor stereotypy, Self-mutilation, Tremor, Gait ataxia, Aggressive behavior |
ORPHA:476126 |
Kleefstra Syndrome 1 |
|
Motor stereotypy, Apathy, Aggressive behavior |
OMIM:610253 |
Transketolase Deficiency |
|
Motor stereotypy, Self-injurious behavior |
ORPHA:488618 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Anxiety, Self-injurious behavior |
ORPHA:819 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Motor stereotypy |
OMIM:616351 |
Developmental And Epileptic Encephalopathy 2 |
|
Motor stereotypy, Myoclonus, Poor eye contact |
OMIM:300672 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Anxiety, Aggressive b... |
OMIM:156200 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Hypertonia, Babinski sign, Spasticity, Inappropriate laughter |
OMIM:615802 |
Rett Syndrome |
|
Motor stereotypy, Limb apraxia, Bradykinesia, Stereotypical hand wringing |
ORPHA:778 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy |
OMIM:617751 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Motor stereotypy, Head-banging |
OMIM:619103 |
Phelan-Mcdermid Syndrome |
|
Motor stereotypy, Poor eye contact, Tongue thrusting, Aggressive behavior, Impaired social intera... |
OMIM:606232 |
Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Ataxia, Cataplexy, Spasticity, Dementia |
OMIM:607625 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Motor stereotypy, Ataxia, Aggressive behavior, Low frustration tolerance |
ORPHA:457279 |
Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:613174 |
Joubert Syndrome 6 |
|
Motor stereotypy, Oculomotor apraxia, Ataxia |
OMIM:610688 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Motor stereotypy, Hypertonia, Aggressive behavior, Self-mutilation |
OMIM:212066 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy |
ORPHA:500159 |
D-Glyceric Aciduria |
|
Opisthotonus, Myoclonus, Tongue thrusting, Spasticity, Spastic tetraplegia |
OMIM:220120 |
Coffin-Siris Syndrome 7 |
|
Motor stereotypy |
OMIM:618027 |
Leber Congenital Amaurosis 9 |
|
Eye poking |
OMIM:608553 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Isometric tremor, Ataxia, Tics, Spasticity, Emotional lability, Impaired social interactions, Hyp... |
OMIM:619475 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Reduced bone mi... |
ORPHA:99413 |
Turner Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Reduced bone mi... |
ORPHA:881 |
Mosaic Monosomy X |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Reduced bone mi... |
ORPHA:99228 |
Monosomy X |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Reduced bone mi... |
ORPHA:99226 |
Wiedemann-Steiner Syndrome |
|
Motor stereotypy, Anxiety, Psychomotor deterioration, Aggressive behavior, Low frustration tolerance |
ORPHA:319182 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy |
OMIM:617802 |
Kohlschutter-Tonz Syndrome-Like |
|
Motor stereotypy, Ataxia, Myoclonus, Stereotypical hand wringing, Tremor, Spasticity, Upper limb ... |
OMIM:619229 |
Cystinosis |
|
Motor stereotypy, Abnormal pyramidal sign |
ORPHA:213 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Fasciculations, Tetraplegia |
ORPHA:496641 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy |
ORPHA:261144 |
Van Esch-O'Driscoll Syndrome |
|
Motor stereotypy, Impulsivity, Poor eye contact, Unilateral vocal cord paralysis, Shyness, Spasti... |
OMIM:301030 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... |
ORPHA:273 |
Bainbridge-Ropers Syndrome |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Recurrent hand flapping |
OMIM:615485 |
Pitt-Hopkins Syndrome |
|
Motor stereotypy, Incoordination, Gait ataxia, Self-injurious behavior |
OMIM:610954 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Spasticity, Repetitive compulsive behavior |
ORPHA:401777 |
Kleefstra Syndrome |
|
Motor stereotypy, Self-injurious behavior, Aggressive behavior, Self-mutilation |
ORPHA:261494 |
3P25.3 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia |
ORPHA:435638 |
Helsmoortel-Van Der Aa Syndrome |
|
Motor stereotypy |
OMIM:615873 |
Prader-Willi Syndrome Due To Translocation |
|
Motor stereotypy, Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Impaired socia... |
ORPHA:177907 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Stereotypical body rocking, Self-injurious behavior, Tongue thrusting, Inappropriate crying |
ORPHA:261323 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Ataxia, Poor coordination, Anxiety, Aggressive behavior, Spasticity |
OMIM:618430 |
White-Sutton Syndrome |
|
Motor stereotypy, Incoordination, Self-injurious behavior, Aggressive behavior |
ORPHA:468678 |
Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Ataxia |
ORPHA:2479 |
7Q11.23 Microduplication Syndrome |
|
Motor stereotypy, Self-injurious behavior, Dysmetria, Anxiety, Aggressive behavior, Impaired soci... |
ORPHA:96121 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Tongue thrusting |
ORPHA:98795 |
Dilated Cardiomyopathy With Ataxia |
|
Action tremor, Ataxia, Lower limb spasticity, Repetitive compulsive behavior |
ORPHA:66634 |
Bainbridge-Ropers Syndrome |
|
Hypertonia, Recurrent hand flapping |
ORPHA:352577 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Failure to thrive, Hypocalcemia, Hyperinsulinemic h... |
OMIM:619991 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Motor stereotypy, Head-banging, Self-injurious behavior |
OMIM:619575 |
Tenorio Syndrome |
|
Hypoglycemia, Osteopenia, Hypoinsulinemia |
OMIM:616260 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Spastic tetraparesis, Stereotypical hand wringing |
OMIM:619179 |
2Q37 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:1001 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Abnormal pyramidal sign, Hyperkinetic move... |
ORPHA:468631 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... |
ORPHA:353281 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Motor stereotypy, Self-mutilation |
OMIM:619005 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Stereotypical hand wringing |
OMIM:612337 |
Mucopolysaccharidosis Type 2 |
|
Motor stereotypy, Impulsivity, Cognitive impairment, Mental deterioration, Progressive neurologic... |
ORPHA:580 |
Pyruvate Carboxylase Deficiency |
|
Apathy, Ataxia, Poor eye contact, Recurrent hand flapping, Abnormal pyramidal sign, Tremor |
ORPHA:3008 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Motor stereotypy, Hypertonia, No social interaction, Opisthotonus |
ORPHA:508533 |
Pmm2-Cdg |
|
Multiple joint contractures, Failure to thrive, Hyperinsulinemia, Elevated circulating growth hor... |
ORPHA:79318 |
Developmental And Epileptic Encephalopathy 100 |
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Motor stereotypy, Myoclonus, Chorea, Choreoathetosis, Gait ataxia |
OMIM:619777 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Motor stereotypy, Anxiety, Self-injurious behavior |
OMIM:619512 |
Tuberous Sclerosis Complex |
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Impulsivity, Self-injurious behavior, Abnormal social behavior, Depression, Anxiety, Aggressive b... |
ORPHA:805 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Motor stereotypy, Aggressive behavior |
OMIM:301066 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Motor stereotypy, Anxiety |
ORPHA:464311 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Motor stereotypy, Spasticity |
OMIM:301040 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Motor stereotypy, Anxiety |
ORPHA:464306 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Motor stereotypy, Ataxia, Dysmetria, Truncal ataxia, Speech apraxia, Gait ataxia |
OMIM:617330 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
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Aggressive behavior, Tongue thrusting, Hemiparesis |
ORPHA:369950 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Motor stereotypy, Ataxia, Poor gross motor coordination, Hand tremor, Dysmetria, Gait ataxia, Agg... |
OMIM:614756 |
Dpagt1-Cdg |
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Hypertonia, Head-banging, Ataxia, Stereotypical body rocking, Emotional blunting, Tremor, Aggress... |
ORPHA:86309 |
Kinsship Syndrome |
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Spastic tetraparesis, Myoclonus, Motor stereotypy |
OMIM:619297 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
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Ataxia, Impulsivity, Self-mutilation, Spastic diplegia, Limb hypertonia, Cerebral palsy, Stereoty... |
OMIM:619950 |
Cardiofaciocutaneous Syndrome 1 |
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Hypertonia, Tongue thrusting, Oculomotor apraxia |
OMIM:115150 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... |
ORPHA:353277 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Spastic tetraparesis, Hypertonia, Motor stereotypy, Poor eye contact |
OMIM:301044 |
Oculocerebrorenal Syndrome Of Lowe |
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Motor stereotypy, Self-injurious behavior, Depression, Anxiety, Clonus |
ORPHA:534 |
Alström Syndrome |
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Precocious puberty in females, Hyperlipidemia, Decreased circulating T4 concentration, Type II di... |
ORPHA:64 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Motor stereotypy, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking |
ORPHA:513456 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Motor stereotypy |
OMIM:616682 |
Mgat2-Cdg |
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Stereotypical hand wringing |
ORPHA:79329 |
Ogden Syndrome |
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Torticollis, Hypertonia, Motor stereotypy, Irritability |
OMIM:300855 |
Norrie Disease |
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Motor stereotypy, Hypertonia, Self-injurious behavior, Anxiety, Clonus, Irritability |
ORPHA:649 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Hypertonia, Ataxia, Anxiety, Stereotypical hand wringing, Aggressive behavior |
ORPHA:268261 |
Lowe Oculocerebrorenal Syndrome |
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Motor stereotypy, Aggressive behavior |
OMIM:309000 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Motor stereotypy |
ORPHA:508498 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Motor stereotypy |
OMIM:618653 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Motor stereotypy, Spastic diplegia, Poor coordination |
OMIM:309590 |
Arboleda-Tham Syndrome |
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Motor stereotypy, Lower limb hypertonia |
OMIM:616268 |
1P36 Deletion Syndrome |
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Hemiplegia/hemiparesis, Motor stereotypy, Self-injurious behavior |
ORPHA:1606 |
Leukocyte Adhesion Deficiency |
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Coronal craniosynostosis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Primrose Syndrome |
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Motor stereotypy, Ataxia, Self-injurious behavior, Anxiety, Tics, Aggressive behavior |
OMIM:259050 |
Coffin-Siris Syndrome 12 |
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Motor stereotypy |
OMIM:619325 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Motor stereotypy, Exaggerated startle response |
OMIM:619522 |
Wolf-Hirschhorn Syndrome |
|
Motor stereotypy |
OMIM:194190 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Myoclonus, Involuntary movements, Stereotypical hand wringing, Exaggerated startle response |
ORPHA:438213 |
Mowat-Wilson Syndrome |
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Motor stereotypy, Happy demeanor, Ataxia, Anxiety, Spasticity, Impaired social interactions |
ORPHA:2152 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Impulsivity, Stereotypical body rocking, Low frustration tolerance |
OMIM:619503 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Motor stereotypy, Happy demeanor, Poor fine motor coordination, Spasticity |
ORPHA:261537 |
Non-Specific Syndromic Intellectual Disability |
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Speech apraxia, Panic attack |
ORPHA:528084 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Motor stereotypy, Happy demeanor, Poor fine motor coordination, Spasticity |
ORPHA:261552 |