Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions |
OMIM:618830 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Diffi... |
OMIM:619191 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Aggressive behavior, Poor eye contact, Hyperactivity, Ataxia |
OMIM:300983 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Dysmetria, Cognitive impairment, Optic nerve hypoplasia, Ataxia, Emotional lability, Attention de... |
OMIM:614306 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Dystonia, Hyperactivity, Ataxia |
OMIM:615924 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ata... |
ORPHA:248111 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Broad-based gait |
OMIM:619470 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior |
OMIM:604317 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Aggressive behavior, Falls |
ORPHA:2382 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... |
ORPHA:98818 |
Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
Early-Onset Schizophrenia |
|
Shyness, No social interaction, Unhappy demeanor, Suicidal ideation, Cognitive impairment, Lack o... |
ORPHA:96369 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior |
OMIM:309548 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Lethargy |
OMIM:274270 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety |
OMIM:616977 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Hyperactivity, Ataxia, Impaired social interactions, Progressive language de... |
OMIM:610042 |
Cln5 Disease |
|
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... |
ORPHA:228360 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Aggressive behavior, Abnormal social behavior |
ORPHA:101039 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... |
ORPHA:1929 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, Poor eye contact,... |
ORPHA:163681 |
Optic Atrophy 11 |
|
Optic atrophy, Dysmetria, Facial diplegia, Hyperactivity, Ataxia |
OMIM:617302 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Aggressive behavior, Ataxia |
OMIM:612716 |
Infantile Neuroaxonal Dystrophy |
|
Gait disturbance, Dystonia, Abnormality of peripheral nerve conduction, Optic atrophy, Hyperactiv... |
ORPHA:35069 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior |
OMIM:618342 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Dementia, Retinal degeneration, Motor deterioration, Aggressive behavior, Hyper... |
ORPHA:168491 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:271980 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, ... |
ORPHA:363400 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior |
OMIM:617773 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619467 |
Myoclonic-Astatic Epilepsy |
|
Lack of peer relationships, Hyperactivity, Ataxia, Impaired social interactions, Unsteady gait, A... |
ORPHA:1942 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Hyperactivity, Irritabil... |
ORPHA:449291 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:301013 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Ataxia, Hyperactivity, Happy demeanor, Broad-based gait |
ORPHA:411515 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait |
OMIM:617865 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Ataxia, Abnormal social behavior, Memory impairment |
ORPHA:1020 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior, Optic atrophy |
ORPHA:369939 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:457260 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Hyperactivity, Inability to walk |
OMIM:618718 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Optic atrophy, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional la... |
OMIM:610217 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Hyperactivity, Ataxia, Optic atrophy |
ORPHA:530983 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... |
ORPHA:485350 |
X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Hyperactivity, Attention d... |
ORPHA:43 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Gait ataxia |
ORPHA:500180 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Anxiety, Aggressive behavior |
OMIM:300558 |
Fragile X Syndrome |
|
Hyperactivity, Poor eye contact |
OMIM:300624 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Aggressive behavior, Self-mutilation, Poor eye contact, Hyperactivity, Inability ... |
OMIM:103050 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior |
OMIM:615286 |
Cri-Du-Chat Syndrome |
|
Optic atrophy, Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivi... |
OMIM:123450 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior |
OMIM:615824 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:300958 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Aganglionic megacolon, Self-mutilation, Hyperactivity, Ataxia |
ORPHA:52503 |
Smith-Magenis Syndrome |
|
Hyperactivity, Retinal detachment, Self-mutilation, Head-banging |
OMIM:182290 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration |
OMIM:252920 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Gait disturbance, Dementia, Dystonia, Pigmentary retinopathy, Optic atrophy, Retinal degeneration... |
OMIM:234200 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Hyperactivity, Cognitive impairment, Ataxia |
OMIM:601853 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Motor deterioration, Rod-cone dystrophy |
OMIM:252930 |
Mental Retardation, Autosomal Dominant 7 |
|
Hyperactivity, Gait disturbance, Happy demeanor, Ataxia |
OMIM:614104 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:600430 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Mental deterioration, Diff... |
ORPHA:139396 |
Angelman Syndrome |
|
Optic atrophy, Optic disc pallor, Happy demeanor, Self-injurious behavior, Aggressive behavior, P... |
ORPHA:72 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance, Impaired socia... |
OMIM:309520 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:391307 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Ataxia |
ORPHA:228402 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting |
ORPHA:3306 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Hyperactivity, Aggressive behavior, Ataxia |
ORPHA:369891 |
47,Xyy Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder, Congenital stationary night blindness, I... |
ORPHA:8 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Myopathy With Extrapyramidal Signs |
|
Dystonia, Optic atrophy, Hyperactivity, Ataxia, Difficulty walking |
OMIM:615673 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Anxiety, Aggressive behavior, Ataxia |
OMIM:618430 |
16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting |
ORPHA:485405 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Optic nerve hypoplasia, Self-mutilation, Low frustration tolerance |
ORPHA:363686 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Self-mutilation, Hyperactivity, Emotional lability, Postural hypotension with compensatory tachyc... |
OMIM:256800 |
Joubert Syndrome 1 |
|
Optic disc pallor, Chorioretinal coloboma, Retinal dysplasia, Retinal dystrophy, Aggressive behav... |
OMIM:213300 |
Citrullinemia Type Ii |
|
Aggressive behavior, Hyperactivity, Irritability, Memory impairment, Lethargy |
ORPHA:247585 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia |
OMIM:300486 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Self-biting, Aggressive behavior, Poor eye contact, Hyperactivity, Ataxia, Anxiety, Impaired soci... |
OMIM:300912 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Self-mutilation |
ORPHA:412035 |
Glass Syndrome |
|
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait |
OMIM:612313 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Happy demeanor, Gait imbalance, Ataxia, Hyperactivity, Broad-based gait |
ORPHA:98794 |
Legius Syndrome |
|
Dystonia, Vestibular Schwannoma, Cognitive impairment, Hyperactivity, Attention deficit hyperacti... |
ORPHA:137605 |
Choreoacanthocytosis |
|
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... |
ORPHA:2388 |
Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Aggressive behavior, Co... |
ORPHA:580 |
7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Dysmetria, Aggressive behavior, Abnormality of the optic disc, Hyperacti... |
ORPHA:96121 |
Mucopolysaccharidosis Type 3 |
|
Gait disturbance, Dementia, Optic atrophy, Retinal degeneration, Loss of ambulation, Aggressive b... |
ORPHA:581 |
Wiedemann-Steiner Syndrome |
|
Aggressive behavior, Hyperactivity, Low frustration tolerance, Psychomotor deterioration, Anxiety |
ORPHA:319182 |
Tuberous Sclerosis Complex |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Chorioretinal hypopigmentation, Reti... |
ORPHA:805 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Dystonia, Violent behavior, Chorioretinal coloboma, Torticollis, Suicidal ideation, Cognitive imp... |
OMIM:619475 |
Argininemia |
|
Hyperactivity, Spastic gait, Irritability |
OMIM:207800 |
Mend Syndrome |
|
Abnormal social behavior, Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials |
ORPHA:401973 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait |
OMIM:614756 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353281 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Highly arched eyebrow, Absent nipple, Hypoplastic nipples, Cryptorchidism |
OMIM:616001 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Self-mutilation, Abnormality of the autonom... |
ORPHA:642 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Irritability |
ORPHA:447997 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity |
ORPHA:424 |