Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608631 |
Pick Disease Of Brain |
|
Apathy, Inappropriate laughter, Stereotypy, Emotional blunting, Diminished motivation, Irritabili... |
OMIM:172700 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Inappropriate behavior, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Ataxia, Upper ... |
ORPHA:401901 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300425 |
Autism |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608636 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly, Cerebral atrophy |
OMIM:614023 |
Childhood Disintegrative Disorder |
|
Dementia, Motor deterioration, Social and occupational deterioration, Stereotypy, Mental deterior... |
ORPHA:168782 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Depre... |
ORPHA:280397 |
Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior, Abulia, Aggressive behavior, Abnormality of extrapyramidal motor function... |
ORPHA:275864 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic diplegia |
OMIM:617270 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Involuntary movements, Dementia, Choreoathetosis, Cognitive impairment, Parkinsonism, Depression,... |
OMIM:616413 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Apathy, Stereotypy, Emotional lability, Disinhibition, Spasticity, Frontotemporal ... |
OMIM:612069 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Impaired social interactions, Stereotypy |
OMIM:606053 |
Creutzfeldt-Jakob Disease |
|
Dementia, Myoclonus, Apathy, Extrapyramidal muscular rigidity, Hemiparesis, Irritability, Anxiety... |
OMIM:123400 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Babinski sign, Inappropriate behavior, Rigidity, Aggressive behavior, Myoclonus, Apathy, Stereoty... |
OMIM:600795 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Dementia, Chorea, Cognitive impairment, Apathy, Motor tics, Parkinsonism, Anxiety, Dep... |
OMIM:615483 |
Smith-Magenis syndrome |
|
Self-mutilation, Stereotypy |
DECIPHER:8 |
Huntington Disease-Like 2 |
|
Dementia, Rigidity, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression |
OMIM:606438 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Geniospasm 1 |
|
Anxiety, Chin myoclonus |
OMIM:190100 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... |
ORPHA:71529 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dementia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety, Depression |
OMIM:605909 |
Myoclonus-Dystonia Syndrome |
|
Limb myoclonus, Torticollis, Myoclonus, Spinal myoclonus, Personality disorder, Panic attack, Anx... |
ORPHA:36899 |
Huntington Disease-Like 1 |
|
Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Incoordination, Anxiety, Depression |
OMIM:603218 |
Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety, Depression |
OMIM:159900 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea, Anxiety |
ORPHA:494541 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Inappropriate crying, Self-injurious behavior, Stereotypical hand wringing, Hyperkinetic movement... |
ORPHA:397933 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Stereotypy |
OMIM:617787 |
Chorea, Benign Hereditary |
|
Chorea, Anxiety |
OMIM:118700 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Motor deterioration, Apathy, Bradykinesia, Frontotemporal demen... |
ORPHA:412066 |
N-Acetylaspartate Deficiency |
|
Self-mutilation, Truncal ataxia, Stereotypy |
OMIM:614063 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... |
ORPHA:280356 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational age, Exc... |
ORPHA:324575 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia |
OMIM:606762 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Spinocerebellar Ataxia 12 |
|
Dementia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head tremo... |
OMIM:604326 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Myoclonus, Ataxia, Mental deterioration, Anxiety, Depression |
OMIM:619191 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Poor coordination, Aggressive behavior, Stereotypical body rocking, Impulsivity, Recurrent hand f... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Clumsiness, Aggressive behavior, Stereotypical body rocking, Impulsivity, Recurrent hand flapping |
ORPHA:100973 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Intrauterine growth retardation, Lissencephaly, Pachygyria, Agyria,... |
OMIM:615411 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... |
ORPHA:293964 |
Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300495 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Truncal obesity, Postnatal growth retardation, Abdominal obesity, Decreased respon... |
OMIM:618160 |
Pandas |
|
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... |
ORPHA:66624 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Spasticity, Stereotypy |
OMIM:617393 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Poor coordination, Paroxysmal dyskinesia, Chorea, Aggressive behavior, Inappropriate laughter, St... |
OMIM:619150 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... |
ORPHA:276580 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... |
ORPHA:276575 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Hypertonia, Spastic tetraplegia, Stereotypy |
OMIM:615282 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Delayed pu... |
OMIM:616033 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Stereotypy |
OMIM:300271 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... |
ORPHA:71526 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Hyperprolinemia, Type I |
|
Ataxia, Aggressive behavior, Stereotypy |
OMIM:239500 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Partial agenesis of the corpus callosum, Postnatal growth retardation, Intrauterine growth retard... |
OMIM:233810 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Maternal diabetes, Loss of subcutaneous adipose tissue i... |
OMIM:604367 |
Spinocerebellar Ataxia 48 |
|
Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Mental deterioration, Parkinsonis... |
OMIM:618093 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
Baker-Gordon Syndrome |
|
Involuntary movements, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, Hyperkinetic... |
OMIM:618218 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, Chorea, Stereotypical hand wringing |
OMIM:618760 |
Mental Retardation, Autosomal Recessive 41 |
|
Anxiety, Stereotypy |
OMIM:615637 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor |
ORPHA:98807 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:619279 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglyce... |
ORPHA:276556 |
Obesity, Hyperphagia, And Developmental Delay |
|
Poor eye contact, Stereotypy |
OMIM:613886 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Aggressive behavior, Speech apraxia, Stereotypy, Anxiety |
OMIM:613670 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Aggressive behavior, Spastic tetraparesis, Stereotypy |
OMIM:619470 |
Progressive Non-Fluent Aphasia |
|
Abnormality of extrapyramidal motor function, Apraxia, Frontotemporal dementia, Parkinsonism, Anx... |
ORPHA:100070 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Stereotypy |
OMIM:615541 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Irritability, Stereotypical hand wringing, Spasticity |
ORPHA:500545 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Chromosome 3Q29 Deletion Syndrome |
|
Anxiety, Aggressive behavior, Gait ataxia, Stereotypy |
OMIM:609425 |
Foxg1 Syndrome |
|
Inappropriate crying, Paroxysmal bursts of laughter, Choreoathetosis, Cognitive impairment, Myocl... |
ORPHA:561854 |
Atypical Rett Syndrome |
|
Involuntary movements, Panic attack, Inappropriate crying, Limb myoclonus, Tongue thrusting, Poor... |
ORPHA:3095 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Autism, Susceptibility To, 3 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608049 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apathy, Repetitive compulsive behavior, Hypersexuality, Apraxia, Disinhibition, Frontotemporal de... |
OMIM:607485 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Lipoatrophy, Diabetes mellitus, Insulin resistance |
ORPHA:79084 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Developmental And Epileptic Encephalopathy 58 |
|
Spastic diplegia, Stereotypy |
OMIM:617830 |
Posterior Cortical Atrophy |
|
Limb apraxia, Speech apraxia, Oculomotor apraxia, Ataxia, Anxiety, Inertia, Memory impairment |
ORPHA:54247 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Intrauterine growth retardation, Microcephaly |
ORPHA:293 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Stereotypy |
OMIM:618709 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Bone cyst, Insulin resistance, Failure to thrive, Lipodystrophy, A... |
ORPHA:528 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dementia, Myoclonic spasms, Poor motor coordination, Motor deterioration, Cognitive i... |
ORPHA:79264 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Tremor, Ataxia... |
OMIM:615157 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Decreased body weight, Short stature, Intrauterine growth retardation, Microcephaly |
OMIM:618097 |
Lissencephaly, X-Linked, 1 |
|
Pachygyria, Postnatal growth retardation, Agyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:300067 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... |
OMIM:608612 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... |
OMIM:615980 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Postnatal growth retardation, Short stature, Cortical dysplasia, Microcephaly |
OMIM:608278 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Chorea, Stereotypy, Stereotypical hand wringing, Spasticity, Gait ataxia |
OMIM:618917 |
Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Stereotypy, Ataxia, Spasticity, Impaired social interactions, Progressive la... |
OMIM:610042 |
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence |
|
Holoprosencephaly, Intrauterine growth retardation, Microcephaly |
OMIM:306990 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Osteopenia |
OMIM:615363 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... |
OMIM:248370 |
Dystonia 26, Myoclonic |
|
Torticollis, Myoclonus, Depression, Anxiety, Blepharospasm |
OMIM:616398 |
Hypocalcemia, Autosomal Dominant 2 |
|
Basal ganglia calcification, Postnatal growth retardation |
OMIM:615361 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Anxiety, Spastic ataxia, Stereotypy |
OMIM:618906 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Tremor, Spasticity |
OMIM:618718 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... |
OMIM:151660 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... |
ORPHA:363400 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Suicidal ideation, Cognitive impairment, Stereotypy, Anxiety, Depression |
ORPHA:98784 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly |
OMIM:600546 |
Choreoacanthocytosis |
|
Dementia, Progressive choreoathetosis, Self-mutilation of tongue and lips due to involuntary move... |
OMIM:200150 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Developmental And Epileptic Encephalopathy 30 |
|
Stereotypy |
OMIM:616341 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Abnormal circulati... |
ORPHA:263455 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Severe intrauterine growth retardation, Intrauterine growth retardation, Short stature, Small for... |
ORPHA:231144 |
Pontocerebellar Hypoplasia, Type 11 |
|
Happy demeanor, Poor coordination, Poor eye contact, Stereotypy, Ataxia, Spasticity, Limb ataxia |
OMIM:617695 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Myoclonus, Oculomotor apraxia, Hypertonia, Ataxia, Disinhibition, Ap... |
ORPHA:1020 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... |
ORPHA:99886 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Microcephaly |
OMIM:617093 |
Early-Onset Schizophrenia |
|
Shyness, No social interaction, Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive i... |
ORPHA:96369 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Inappropriate behavior, Chorea, Cognitive impairment, Exa... |
ORPHA:309246 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Reduced bone mineral density, Osteopenia |
OMIM:619489 |
Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Dementia, Dysmetria, Bradykinesia, Intention tremor, Resting tremor, Dysdiadocho... |
OMIM:300623 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... |
OMIM:262190 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia |
ORPHA:791 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Chorea, Stereotypy, Spasticity, Impulsivity, Depression |
ORPHA:88616 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Lower limb spasticity, Tremor, Resti... |
ORPHA:3077 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... |
ORPHA:97279 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Recurrent hand flapping, Inappropriate laughter, Spasticity |
OMIM:618859 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fa... |
ORPHA:2298 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... |
OMIM:615925 |
Galactokinase Deficiency |
|
Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolem... |
ORPHA:79237 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Stereotypy |
OMIM:617044 |
Perry Syndrome |
|
Inappropriate behavior, Rigidity, Suicidal ideation, Apathy, Bradykinesia, Tremor, Disinhibition,... |
OMIM:168605 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Shyness, Spastic dysarthria, Stereotypy, Spasticity, Progressive spastic paraplegia |
ORPHA:280763 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Resting tremor, Limb hypertonia, Anxiety |
OMIM:606703 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia |
ORPHA:3085 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Elevated circulating creatine kinase concentration, Failure to thrive, Lipody... |
OMIM:613327 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Upper limb spasticity, Self-mutilation, Stereotypy, Tremor, Hyperkinetic movements, Anxiety, Depr... |
ORPHA:457240 |
Xq28 (MECP2) duplication |
|
Progressive spasticity, Stereotypy, Anxiety, Gait ataxia, Depression |
DECIPHER:45 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Partial agenesis of the corpus callosum, Intrauterine growth retardation, Short stature, Failure ... |
OMIM:618346 |
Cdkl5-Deficiency Disorder |
|
Stereotypical hand wringing, Poor eye contact, Inappropriate laughter |
ORPHA:505652 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Stereotypy, Irritability... |
ORPHA:449291 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormal circulating ... |
ORPHA:71212 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Absence of pubertal development, Osteoporosis, Delayed epiphyseal ossificati... |
ORPHA:785 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Mood swings, Limb hypertonia, Opisthotonus, Happy demeanor, Choreoathetosis, Paroxysmal bursts of... |
OMIM:619580 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Dementia, Motor deterioration, Aggressive behavior, Myoclonus, Cortical myoclonus, Stereotypy, At... |
ORPHA:168491 |
Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia |
ORPHA:79319 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... |
ORPHA:79086 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Low self esteem, Punding, Abnormal social behavior, Anxiety, Depression |
ORPHA:64280 |
Young-Onset Parkinson Disease |
|
Dementia, Rigidity, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykinesia, Tremor, Sp... |
ORPHA:2828 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Aggressive behavior, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Perlman Syndrome |
|
Inguinal hernia, Hyperinsulinemia, Femoral hernia |
ORPHA:2849 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Paraplegia, Cognitive impairment, Stereotypy, Ataxia, Emotional lability, Anxiety |
ORPHA:927 |
Christianson Syndrome |
|
Conspicuously happy disposition, Inappropriate laughter, Stereotypy, Truncal ataxia, Gait ataxia |
ORPHA:85278 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Cerebral palsy, Aggressive behavior, Self-mutilation, Lower limb spasticity, Poor e... |
ORPHA:163681 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia |
OMIM:619092 |
Mental Retardation, Autosomal Dominant 7 |
|
Happy demeanor, Inappropriate laughter, Stereotypy, Ataxia, Stereotypical hand wringing, Incoordi... |
OMIM:614104 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hyperglycemia, Adipose tissue loss, Precocious puberty, Pancreatic islet-ce... |
OMIM:246200 |
Developmental And Epileptic Encephalopathy 6B |
|
Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Hyperkinetic movements |
OMIM:619317 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Anxiety, Stereotypy |
ORPHA:397612 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Diabetes insipidus, Insulin-resistant diabetes mellitus,... |
OMIM:203800 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Stereotypy |
ORPHA:313892 |
Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Poor coordination, Tremor, Ataxia, Impaired social interactions, Recurrent hand flapping |
ORPHA:544254 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Self-injurious behavior, Recurrent hand flapping |
OMIM:617268 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Happy demeanor, Poor eye contact, Stereotypy, Spasticity, Gait ataxia |
OMIM:617807 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid myoclonus... |
ORPHA:208447 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... |
ORPHA:1227 |
Alazami Syndrome |
|
Anxiety, Self-mutilation, Stereotypical hand wringing, Stereotypy |
ORPHA:319671 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hypertonia, Spasticity |
ORPHA:352490 |
Immunodeficiency 54 |
|
Intrauterine growth retardation, Short stature, Failure to thrive, Postnatal growth retardation, ... |
OMIM:609981 |
Rett Syndrome, Congenital Variant |
|
Athetosis, Inappropriate crying, Chorea, Tongue thrusting, Poor eye contact, Stereotypy, Irritabi... |
OMIM:613454 |
Microphthalmia-Brain Atrophy Syndrome |
|
Inappropriate crying, Tongue thrusting, Spasticity |
ORPHA:77299 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Ataxia, Paroxysmal bursts of laughter, Stereotypy |
ORPHA:228402 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... |
OMIM:608594 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... |
OMIM:608643 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Progressive spasticity, Rigidity, Chorea, Lower limb spasticity, Poor eye contact, Stereotypy, Re... |
OMIM:300260 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Aggressive behavior, Irritability, Stereotypy |
ORPHA:391307 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Aggressive behavior, Stereotypy |
OMIM:618825 |
Coffin-Siris Syndrome 6 |
|
Tics, Anxiety, Stereotypy |
OMIM:617808 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Self-injurious behavior, Aggressive behavior, Conspicuously happy disposition, Stereotypy, Ataxia... |
OMIM:300986 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... |
ORPHA:769 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Ataxia, Upper motor neuron dysfunction, Stereotypy |
ORPHA:530983 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... |
OMIM:269700 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Self-injurious behavior, Chorea, Stereotypy, Eyelid myoclonus, Spasticity |
ORPHA:178469 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Self-injurious behavior, Aggressive behavior, Stereotypy, Hypertonia, Impulsivity |
OMIM:618914 |
4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Stereotypy |
ORPHA:238750 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Tetraparesis, Stereotypy |
ORPHA:85277 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Myoclonus, Poor eye contact, Stereotypy |
ORPHA:411986 |
Distal Xq28 Microduplication Syndrome |
|
Self-biting, Aggressive behavior, Poor eye contact, Stereotypical body rocking, Impulsivity, Anxi... |
ORPHA:293939 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Stereotypy |
OMIM:618205 |
Leber Congenital Amaurosis 1 |
|
Eye poking |
OMIM:204000 |
48,Xxyy Syndrome |
|
Stereotypy, Tremor, Ataxia, Anxiety, Depression |
ORPHA:10 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Babinski sign, Scissor gait, Dysmetria, Spastic gait, Aggressive behavior, Spastic tetraplegia, S... |
OMIM:619121 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Self-biting, Aggressive behavior, Lower limb spasticity, Poor eye contact, Stereotypy, Stereotypi... |
OMIM:300912 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Aggressive behavior, Self-biting, Stereotypy |
ORPHA:3306 |
Developmental And Epileptic Encephalopathy 87 |
|
Recurrent hand flapping, Hypertonia |
OMIM:618916 |
Cri-Du-Chat Syndrome |
|
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Stereotypy, Hypertonia, Ov... |
OMIM:123450 |
Angelman Syndrome Due To A Point Mutation |
|
Happy demeanor, Tongue thrusting, Inappropriate laughter, Ataxia, Recurrent hand flapping |
ORPHA:411511 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Self-mutilation, Stereotypy, Low frustration tolerance, Spasticity, Gait ataxia |
OMIM:300486 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Poor eye contact, Stereotypy, Ataxia, Head tremor, No social interaction |
OMIM:619428 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... |
ORPHA:230 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Anxiety, Oromotor apraxia, Spasticity |
ORPHA:391372 |
Smith-Magenis Syndrome |
|
Self-mutilation, Head-banging, Stereotypy |
OMIM:182290 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Leprechaunism |
|
Central hypothyroidism, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Failure to thrive,... |
ORPHA:508 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Happy demeanor, Myoclonus, Tongue thrusting, Inappropriate laughter, Tremor, Ataxia, Recurrent ha... |
ORPHA:98794 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Hypogonadotropic ... |
OMIM:176270 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hyp... |
ORPHA:3464 |
Shukla-Vernon Syndrome |
|
Stereotypy |
OMIM:301029 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Reduced C-peptide level, Hypoinsulinemia, Hypo... |
ORPHA:2126 |
Limbic Encephalitis With Nmda Receptor Antibodies |
|
Involuntary movements, No social interaction, Opisthotonus, Rigidity, Choreoathetosis, Chorea, My... |
ORPHA:217253 |
Atypical Werner Syndrome |
|
Insulin-resistant diabetes mellitus, Reduced bone mineral density, Fasting hyperinsulinemia, Lipo... |
ORPHA:79474 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Poor hand-eye coordination, Aggressive behavior, Stereotypy, Spasticity, Impaired social interact... |
OMIM:300352 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus, Stereotypical hand wringing |
ORPHA:289266 |
Mental Retardation, Autosomal Dominant 40 |
|
Gait ataxia, Stereotypy |
OMIM:616579 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Choreoathetosis, Self-biting, Chorea, Self-mutilation, Poor eye contact, Stereotypy, Repetitive c... |
ORPHA:522077 |
5Q14.3 Microdeletion Syndrome |
|
Stereotypy |
ORPHA:228384 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Stereotypy |
ORPHA:529965 |
Radio-Tartaglia Syndrome |
|
Aggressive behavior, Poor eye contact, Stereotypy, Tremor, Ataxia, Impulsivity |
OMIM:619312 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Stereotypy |
OMIM:618504 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Overfriendliness, Low frustration tolerance, Stereotypy |
OMIM:619293 |
22Q11.2 Duplication Syndrome |
|
Anxiety, Stereotypy |
ORPHA:1727 |
Potocki-Lupski Syndrome |
|
Poor eye contact, Stereotypy |
OMIM:610883 |
Ritscher-Schinzel Syndrome 4 |
|
Athetosis, Chorea, Aggressive behavior, Stereotypy, Ataxia, Impulsivity |
OMIM:619435 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Delayed social development, Spastic tetraplegia, Spastic ataxia, Stereotypy, Oculomo... |
ORPHA:300570 |
Mental Retardation, Autosomal Dominant 48 |
|
Stereotypy |
OMIM:617751 |
Angelman Syndrome |
|
Happy demeanor, Self-injurious behavior, Aggressive behavior, Myoclonus, Tongue thrusting, Poor e... |
ORPHA:72 |
Niemann-Pick Disease, Type C2 |
|
Dementia, Cataplexy, Stereotypy, Ataxia, Spasticity |
OMIM:607625 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
Hydroxykynureninuria |
|
Hypertonia, Stereotypy |
ORPHA:79155 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly |
OMIM:615190 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, Impaired social interactions |
ORPHA:261197 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Clonus, Hair-pulling, Myoclonic spasms, Lower limb spasticity, Stereotypy, Hypertonia, Irritability |
ORPHA:447997 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Limb hypertonia, Self-injurious behavior, Poor eye contact, Stereotypy, Spasticity |
ORPHA:457351 |
Kleefstra Syndrome 1 |
|
Aggressive behavior, Apathy, Stereotypy |
OMIM:610253 |
Transketolase Deficiency |
|
Self-injurious behavior, Stereotypy |
ORPHA:488618 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Self-mutilation, Stereotypy, Tremor, Gait ataxia |
ORPHA:476126 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Stereotypy |
OMIM:616351 |
Rett Syndrome |
|
Limb apraxia, Stereotypical hand wringing, Bradykinesia, Stereotypy |
ORPHA:778 |
Phelan-Mcdermid Syndrome |
|
Aggressive behavior, Tongue thrusting, Poor eye contact, Stereotypy, Impaired social interactions |
OMIM:606232 |
Developmental And Epileptic Encephalopathy 2 |
|
Myoclonus, Poor eye contact, Stereotypy |
OMIM:300672 |
Smith-Magenis Syndrome |
|
Self-injurious behavior, Anxiety, Stereotypy |
ORPHA:819 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Stereotypy |
OMIM:619103 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Low frustration tolerance, Stereotypy |
ORPHA:457279 |
Chromosome 5P13 Duplication Syndrome |
|
Stereotypy |
OMIM:613174 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Hypertonia, Self-mutilation, Stereotypy |
OMIM:212066 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Babinski sign, Inappropriate laughter, Stereotypy, Hypertonia, Spasticity |
OMIM:615802 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Stereotypy |
ORPHA:500159 |
Wiedemann-Steiner Syndrome |
|
Aggressive behavior, Stereotypy, Low frustration tolerance, Psychomotor deterioration, Anxiety |
ORPHA:319182 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Stereotypy |
ORPHA:261144 |
Kohlschutter-Tonz Syndrome-Like |
|
Upper limb spasticity, Myoclonus, Lower limb spasticity, Stereotypy, Tremor, Ataxia, Stereotypica... |
OMIM:619229 |
Cystinosis |
|
Abnormal pyramidal sign, Stereotypy |
ORPHA:213 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Progressive spasticity, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Spasticity |
ORPHA:496641 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, Glucose intoler... |
ORPHA:99413 |
Turner Syndrome |
|
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, Glucose intoler... |
ORPHA:881 |
Mosaic Monosomy X |
|
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, Glucose intoler... |
ORPHA:99228 |
Monosomy X |
|
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, Glucose intoler... |
ORPHA:99226 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Cerebral palsy, Torticollis, Poor eye contact, Isometric tremor, Stereotypy, Irritability, Anxiet... |
OMIM:619475 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Spasticity |
ORPHA:401777 |
Kleefstra Syndrome |
|
Self-injurious behavior, Aggressive behavior, Self-mutilation, Stereotypy |
ORPHA:261494 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Stereotypy |
ORPHA:435638 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... |
ORPHA:273 |
Helsmoortel-Van Der Aa Syndrome |
|
Stereotypy |
OMIM:615873 |
Bainbridge-Ropers Syndrome |
|
Self-injurious behavior, Recurrent hand flapping, Hypertonia, Stereotypy |
OMIM:615485 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Self-injurious behavior, Stereotypical body rocking, Tongue thrusting, Inappropriate crying |
ORPHA:261323 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Stereotypy |
ORPHA:2479 |
White-Sutton Syndrome |
|
Self-injurious behavior, Aggressive behavior, Incoordination, Stereotypy |
ORPHA:468678 |
Prader-Willi Syndrome Due To Translocation |
|
Skin-picking, Happy demeanor, Stereotypy, Abnormal social behavior, Anxiety, Impaired social inte... |
ORPHA:177907 |
7Q11.23 Microduplication Syndrome |
|
Dysmetria, Self-injurious behavior, Aggressive behavior, Stereotypy, Anxiety, Impaired social int... |
ORPHA:96121 |
Dilated Cardiomyopathy With Ataxia |
|
Repetitive compulsive behavior, Ataxia, Lower limb spasticity, Action tremor |
ORPHA:66634 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Poor coordination, Aggressive behavior, Ataxia, Spasticity, Anxiety |
OMIM:618430 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Tongue thrusting |
ORPHA:98795 |
Bainbridge-Ropers Syndrome |
|
Recurrent hand flapping, Hypertonia |
ORPHA:352577 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, Head-banging, Stereotypy |
OMIM:619575 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Spastic tetraparesis, Stereotypical hand wringing |
OMIM:619179 |
2Q37 Microdeletion Syndrome |
|
Stereotypy |
ORPHA:1001 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Stereotypy, Hypertonia, Hyperkinetic movements, Spasticity, Abnormal pyr... |
ORPHA:468631 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353281 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Self-mutilation, Stereotypy |
OMIM:619005 |
Pyruvate Carboxylase Deficiency |
|
Apathy, Poor eye contact, Tremor, Ataxia, Abnormal pyramidal sign, Recurrent hand flapping |
ORPHA:3008 |
Mucopolysaccharidosis Type 2 |
|
Aggressive behavior, Cognitive impairment, Progressive neurologic deterioration, Stereotypy, Impu... |
ORPHA:580 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
No social interaction, Hypertonia, Opisthotonus, Stereotypy |
ORPHA:508533 |
Tenorio Syndrome |
|
Hypoinsulinemia, Hypoglycemia, Osteopenia |
OMIM:616260 |
Tuberous Sclerosis Complex |
|
Self-injurious behavior, Aggressive behavior, Repetitive compulsive behavior, Impulsivity, Abnorm... |
ORPHA:805 |
Pmm2-Cdg |
|
Insulin resistance, Failure to thrive, Hypogonadotropic hypogonadism, Abnormal subcutaneous fat t... |
ORPHA:79318 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Self-injurious behavior, Anxiety, Stereotypy |
OMIM:619512 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Aggressive behavior, Stereotypy |
OMIM:301066 |
Ogden Syndrome |
|
Hypertonia, Stereotypy |
OMIM:300855 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Anxiety, Stereotypy |
ORPHA:464311 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Anxiety, Stereotypy |
ORPHA:464306 |
Dpagt1-Cdg |
|
Aggressive behavior, Tremor, Stereotypical body rocking, Hypertonia, Ataxia, Emotional blunting, ... |
ORPHA:86309 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Aggressive behavior, Tongue thrusting, Hemiparesis |
ORPHA:369950 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Dysmetria, Speech apraxia, Stereotypy, Ataxia, Truncal ataxia, Gait ataxia |
OMIM:617330 |
Cardiofaciocutaneous Syndrome 1 |
|
Oculomotor apraxia, Hypertonia, Tongue thrusting |
OMIM:115150 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353277 |
Kinsship Syndrome |
|
Spastic tetraparesis, Myoclonus, Stereotypy |
OMIM:619297 |
Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Self-injurious behavior, Stereotypy, Anxiety, Depression |
ORPHA:534 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Stereotypical body rocking, Gait ataxia, Stereotypy |
ORPHA:513456 |
Alström Syndrome |
|
Precocious puberty in females, Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Dor... |
ORPHA:64 |
Mgat2-Cdg |
|
Stereotypical hand wringing |
ORPHA:79329 |
Norrie Disease |
|
Clonus, Self-injurious behavior, Stereotypy, Hypertonia, Irritability, Anxiety |
ORPHA:649 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aggressive behavior, Ataxia, Hypertonia, Stereotypical hand wringing, Anxiety |
ORPHA:268261 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Stereotypy |
OMIM:616682 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Spastic tetraparesis, Hypertonia, Poor eye contact, Stereotypy |
OMIM:301044 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Stereotypy |
OMIM:618653 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Stereotypy |
ORPHA:508498 |
Arboleda-Tham Syndrome |
|
Lower limb hypertonia, Stereotypy |
OMIM:616268 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Poor coordination, Spastic diplegia, Stereotypy |
OMIM:309590 |
Lowe Oculocerebrorenal Syndrome |
|
Aggressive behavior, Stereotypy |
OMIM:309000 |
Primrose Syndrome |
|
Self-injurious behavior, Aggressive behavior, Stereotypy, Tics, Anxiety |
OMIM:259050 |
Rubinstein-Taybi Syndrome 1 |
|
Abnormal fear/anxiety-related behavior, Poor coordination, Agoraphobia, Self-mutilation, Stereoty... |
OMIM:180849 |
1P36 Deletion Syndrome |
|
Self-injurious behavior, Hemiplegia/hemiparesis, Stereotypy |
ORPHA:1606 |
Leukocyte Adhesion Deficiency |
|
Coronal craniosynostosis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Coffin-Siris Syndrome 12 |
|
Stereotypy |
OMIM:619325 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Stereotypy |
OMIM:619522 |
Wolf-Hirschhorn Syndrome |
|
Stereotypy |
OMIM:194190 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Involuntary movements, Myoclonus, Stereotypical hand wringing, Exaggerated startle response |
ORPHA:438213 |
Mowat-Wilson Syndrome |
|
Happy demeanor, Stereotypy, Ataxia, Spasticity, Anxiety, Impaired social interactions |
ORPHA:2152 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Stereotypical body rocking, Low frustration tolerance, Impulsivity |
OMIM:619503 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Poor fine motor coordination, Happy demeanor, Spasticity, Stereotypy |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Poor fine motor coordination, Happy demeanor, Spasticity, Stereotypy |
ORPHA:261552 |
Non-Specific Syndromic Intellectual Disability |
|
Panic attack, Speech apraxia |
ORPHA:528084 |