| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, ... |
ORPHA:3077 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity |
OMIM:238700 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Hyperprolinemia, Type I |
|
Ataxia, EEG abnormality, Hyperactivity, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Continuous spike and waves ... |
OMIM:301008 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Micropenis |
ORPHA:75858 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Hypsarrhythmia |
OMIM:619970 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Hypsarrhythmia |
OMIM:617113 |
| Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, Impulsivity, Hyperactivity, Continuous spike and waves during slow... |
ORPHA:98818 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Impulsivity, Hyperactivity, EEG with focal epileptiform discharges, Depression, EEG with generali... |
ORPHA:88616 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior |
OMIM:300983 |
| Lennox-Gastaut Syndrome |
|
EEG abnormality, Hyperactivity, Falls, Aggressive behavior, EEG with focal sharp slow waves, Pers... |
ORPHA:2382 |
| Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Hyperglycinemia, Aggressive behavior, Irritability |
OMIM:605899 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior |
OMIM:619470 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:604317 |
| Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Maternal hyperphenylalaninemia, Hyperphenyla... |
OMIM:261600 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... |
ORPHA:320401 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... |
ORPHA:206443 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Aggressive behav... |
OMIM:612716 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Dysmetria, Gait disturbance, Tremor |
OMIM:618090 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Hyperactivity, Impulsivity, Aggressive behavior |
ORPHA:100973 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Hypertriglyceridemia, Tremor, Dystonia |
OMIM:615924 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
| Mannosidosis, Beta A, Lysosomal |
|
Hearing impairment, Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Cln5 Disease |
|
EEG with focal spikes, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave complexes, D... |
ORPHA:228360 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, EEG abnormality, Self-injurious behavior, Hyperactivity, Tremor, Low-set ears,... |
OMIM:618718 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
EEG with focal spikes, Self-injurious behavior, Progressive cerebellar ataxia, Hyperactivity, Dep... |
ORPHA:485350 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Anxiety, Gait ataxia, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rot... |
OMIM:609425 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... |
OMIM:125250 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:309548 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, EEG abnormality, Self-injurious behavior, Hyperactivity, Anxiety, Elevated circulating ga... |
OMIM:271980 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Depression, Gait ataxia, ... |
ORPHA:248111 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior, Dystonia |
ORPHA:382 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Uplifted earlobe, Hyperactivity, Impulsivity, Macroorchidism |
OMIM:300143 |
| Alazami-Yuan Syndrome |
|
Cryptorchidism, Hyperactivity |
OMIM:617126 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Micropenis, Attention deficit hyperactivity disorder, Macrotia, Cryptorchidism |
OMIM:618504 |
| Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Inability to walk, Hyperactivity, Irritability, Continuous spike and waves... |
ORPHA:1929 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Precocious puberty, Hyperactivity, Aggressive behavior, Hearing impairment |
ORPHA:457260 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abnormal pinna morphology, Hyperactivity, Micropenis, Emotional lability, Hypospadias, Tremor, Ga... |
OMIM:300354 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Inappropriate behavior, EEG with generalized epileptiform... |
OMIM:619827 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... |
OMIM:601455 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:618362 |
| Fragile X Syndrome |
|
Hyperactivity, Self-biting, Macroorchidism, postpubertal, Congenital macroorchidism, Macrotia |
OMIM:300624 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Hyperactivity, Inappropriate laughter |
ORPHA:411515 |
| Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Hyperactivity, EEG abnormality, Impulsivity, Gait ataxia, Aggressive behavior,... |
ORPHA:500180 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Hyperactivity, Aggressive behavior, Macroorchi... |
ORPHA:85327 |
| 47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Impulsivity, Cryptorchidism, Hyperactivity, Micropenis,... |
ORPHA:8 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... |
OMIM:301013 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder |
OMIM:619927 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
| Myoclonic-Astatic Epilepsy |
|
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal em... |
ORPHA:1942 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity, EEG with polyspike wave complexes |
OMIM:617169 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hyperactivity, Ins... |
ORPHA:73272 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Diffi... |
OMIM:601596 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior |
OMIM:619467 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Hyperactivity, Low-set, posteriorly rotated ears, Gonadal dysgenesis, Self-bi... |
ORPHA:3306 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia |
OMIM:615541 |
| 2Q23.1 Microdeletion Syndrome |
|
Ataxia, Self-injurious behavior, Hypoplasia of penis, Hyperactivity, Cryptorchidism, Paroxysmal b... |
ORPHA:228402 |
| Optic Atrophy 11 |
|
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Optic atrophy, Macrotia, Hearing impairment |
OMIM:617302 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with focal spikes, Skin-picking, Ataxia, Precocious puberty, Hyperactivity, Self-mutilation, ... |
ORPHA:163681 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Broad-based gait, Precocious puberty, Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:300958 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Ataxia, Action tremor, Abnormal autonomic nervous system physio... |
ORPHA:99027 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hyperinsulinemia, Hyperactivity, Hypertriglyceridemia, Tremor, Gait ataxia, Limb dystonia... |
ORPHA:363400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Self-mutilation, Micropenis, Gait ataxia, Macrotia, Cryptorchidism, Microphallus, ... |
OMIM:300486 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave ... |
ORPHA:168491 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior |
ORPHA:101039 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Cryptorchidism, Hyperactivity, Diabetes mellitus |
OMIM:614613 |
| Stankiewicz-Isidor Syndrome |
|
Low-set ears, Hyperactivity, Cryptorchidism, Micropenis, Hypospadias, Shawl scrotum, Hearing impa... |
OMIM:617516 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Increased blood urea nitrogen, Cryptorchidism, Optic... |
ORPHA:90321 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation |
OMIM:615516 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Inability to walk, Decreas... |
ORPHA:101085 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Hyperlysinemia, Hypervalinemia, Hyperactivity, Elevat... |
OMIM:615673 |
| 16P12.1P12.3 Triplication Syndrome |
|
Large earlobe, Hyperactivity, Decreased response to growth hormone stimulation test, Anxiety, Nai... |
ORPHA:485405 |
| Infantile Neuroaxonal Dystrophy |
|
Ataxia, Impulsivity, Hyperactivity, Abnormal autonomic nervous system physiology, Optic atrophy, ... |
ORPHA:35069 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Absent brainstem auditory responses, Head titubatio... |
ORPHA:3240 |
| Cri-Du-Chat Syndrome |
|
Conspicuously happy disposition, Abnormal pinna morphology, Hyperactivity, Cryptorchidism, Self-m... |
OMIM:123450 |
| Mend Syndrome |
|
Low-set ears, Hyperactivity, Cryptorchidism |
OMIM:300960 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Sensorineural hearing impairment, Cryptorchidism, Hyperactivity, Aggressive behavior |
OMIM:615824 |
| Mend Syndrome |
|
Hyperactivity, Cryptorchidism, Elevated 8(9)-cholestenol, Aggressive behavior, Abnormal auditory ... |
ORPHA:401973 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| X-Linked Creatine Transporter Deficiency |
|
Ataxia, Hyperactivity, Self-mutilation, Athetosis, Abnormal circulating creatine concentration, D... |
ORPHA:52503 |
| 13Q12.3 Microdeletion Syndrome |
|
Hearing impairment, Hyperactivity, Cryptorchidism, Self-mutilation |
ORPHA:412035 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior |
ORPHA:369939 |
| Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspike wave comp... |
OMIM:619913 |
| Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve condu... |
ORPHA:909 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Happy demeanor, Abnormal pinna morphology, Ataxia, Hyperactivity, Gait disturbance, Macrotia, Ina... |
OMIM:614104 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ataxia, EEG abnormality, Hyperactivity, Cryptorchidism, Hearing impairment, Aggressive behavior, ... |
ORPHA:369891 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Sensorineural hearing impairment, Hyperactivity, Cryptorchidism, Anxiety, Asymmetry of the ears, ... |
OMIM:617796 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Goiter, Hyperactivity, Irritability |
OMIM:275000 |
| Adenylosuccinase Deficiency |
|
Happy demeanor, Inability to walk, Hyperactivity, Opisthotonus, Self-mutilation, Gait ataxia, Agg... |
OMIM:103050 |
| 19P13.3 Microduplication Syndrome |
|
Precocious puberty, Self-injurious behavior, Hyperactivity, Microtia, Unilateral cryptorchidism, ... |
ORPHA:447980 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Ataxia, Impulsivity, Hyperactivity, Microtia, Attached earlobe, Anxiety, Aggressive behavior, Dys... |
OMIM:616977 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Cryptorchidism, Abnormal auditory evoked potentials |
OMIM:193700 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Hyperactivity, Self-biting |
OMIM:618314 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Happy demeanor, Ataxia, EEG abnormality, Broad-based gait, Hyperactivity, EEG wit... |
ORPHA:98794 |
| Adult Krabbe Disease |
|
Broad-based gait, Ataxia, EEG abnormality, Gait disturbance, Prolonged brainstem auditory evoked ... |
ORPHA:206448 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, EEG abnormality, Hyperactivity, Hypoplasia of penis, Tremor, Aggressive behavio... |
ORPHA:85293 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... |
ORPHA:449291 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
| Renal Cysts And Diabetes Syndrome |
|
Glucose intolerance, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Maturity-... |
OMIM:137920 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... |
ORPHA:529799 |
| Chromosome 10Q26 Deletion Syndrome |
|
Sensorineural hearing impairment, Broad-based gait, Protruding ear, Hyperactivity, Cryptorchidism... |
OMIM:609625 |
| 19P13.12 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hyperlipidemia, Self-injurious b... |
ORPHA:254346 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
| Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hypoproteinemia, Decreased HDL cholesterol c... |
ORPHA:247585 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hyperactivity, Hypospadias, Gait disturbance, Neonatal hypoglycemia, Cryptorchidism |
ORPHA:457485 |
| Gomez-Lopez-Hernandez Syndrome |
|
Ataxia, Self-injurious behavior, Hyperactivity, Decreased response to growth hormone stimulation ... |
OMIM:601853 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| X-Linked Adrenoleukodystrophy |
|
Inappropriate sexual behavior, Hyperactivity, Progressive hearing impairment, Gait disturbance, D... |
ORPHA:43 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Self-mutilation, Optic nerve hypoplasia, Hypospadias, Inappropriate laughter, Low ... |
ORPHA:363686 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Protruding ear, Hyperactivity, Micropenis, Shuffling gait, Aggressive behavior, D... |
OMIM:300534 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Irritability, Inappropriate crying, Opisthotonus, Optic atro... |
ORPHA:206436 |
| Angelman Syndrome |
|
Broad-based gait, Happy demeanor, Precocious puberty in females, EEG abnormality, Self-injurious ... |
ORPHA:72 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Ataxia, EEG abnormality, Hyperactivity, Aggressive behavior |
OMIM:610042 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Hypsarrhythmia, EEG with burst suppression |
OMIM:619239 |
| Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hydrocele testis, External... |
ORPHA:79330 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysmetria, Intention tremor, Dysdiadochokinesis, Optic atrophy, Gait ... |
OMIM:610217 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Abnormally folded helix, Hyperactivity, Macroorchidism, Aggressive behavior, Emotional lability, ... |
OMIM:309520 |
| Cockayne Syndrome A |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... |
OMIM:216400 |
| Von Hippel-Lindau Syndrome |
|
Sensorineural hearing impairment, Neoplasm of the pancreas, Papillary cystadenoma of the epididym... |
OMIM:193300 |
| Angelman Syndrome |
|
Broad-based gait, EEG abnormality, Hyperactivity, Progressive gait ataxia, Limb tremor, Paroxysma... |
OMIM:105830 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Abnormal pinna morphology, Hyperactivity, Hypoplastic nipples, Macrotia, Cryptorchidism |
OMIM:618505 |
| Early Infantile Epileptic Encephalopathy |
|
EEG abnormality, Self-injurious behavior, EEG with spike-wave complexes, Precocious puberty, Micr... |
ORPHA:1934 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Ataxia, Inability to walk, Hyperactivity, Abnormal circulating fatty-acid concentration, Dysmetri... |
ORPHA:139396 |
| Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... |
OMIM:133540 |
| Floating-Harbor Syndrome |
|
Broad-based gait, Conductive hearing impairment, Cochlear malformation, Impulsivity, Precocious p... |
ORPHA:2044 |
| Choreoacanthocytosis |
|
Laryngeal dystonia, Falls, Limb dystonia, Emotional lability, Loss of ambulation, Self-injurious ... |
ORPHA:2388 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Low-set ears, Self-injurious behavior, Cryptorchidism, Hyperactivity, Anxiety, Attention deficit ... |
OMIM:616078 |
| Trisomy 10P |
|
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Absent gallbladder, Abnormal ... |
ORPHA:171929 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Hyperactivity |
OMIM:609727 |
| Legius Syndrome |
|
Ovarian neoplasm, Hyperactivity, Male urethral meatus stenosis, Vestibular schwannoma, Attention ... |
ORPHA:137605 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Postural hypotensio... |
OMIM:256800 |
| Brain-Lung-Thyroid Syndrome |
|
Sensorineural hearing impairment, Hypoparathyroidism, Ataxia, Hyperactivity, Thyroid dysgenesis, ... |
ORPHA:209905 |
| Hyperlysinemia |
|
Hyperlysinemia, Hyperactivity, EEG with spike-wave complexes, Dysmetria, Hyperammonemia, Tip-toe ... |
ORPHA:2203 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Papillary cystadenoma of the epididymis, Anxiety, Adrenal ... |
ORPHA:892 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Cryptorchidism, Attention deficit hyperactivity disorder, Low-set ears, Posteriorl... |
OMIM:614294 |
| Argininemia |
|
Hyperactivity, Hyperammonemia, Hyperargininemia, Spastic gait, Irritability |
OMIM:207800 |
| Familial Gestational Hyperthyroidism |
|
Goiter, Hyperactivity, Thyroid hyperplasia, Hand tremor |
ORPHA:99819 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Hyperactivity, Thyroid hyperplasia, Hand tremor |
ORPHA:424 |
| Hyperthyroidism, Nonautoimmune |
|
Goiter, Hyperactivity, Thyroid hyperplasia |
OMIM:609152 |
| Floating-Harbor Syndrome |
|
Conductive hearing impairment, Epididymal cyst, Cryptorchidism, Hypospadias, Glandular hypospadia... |
OMIM:136140 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperactivity, Pseudohypoparathyroidism, Decreased response to growth hormone stimu... |
ORPHA:280651 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Akinesia, Ataxia, Hyperactivity, Blepharospasm, Depression, Optic atrophy, Gait disturbance, Trem... |
OMIM:234200 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Hyperactivity, Emotional lability |
OMIM:620047 |
| Histidinemia |
|
Hyperhistidinemia, Hyperactivity |
ORPHA:2157 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Sensorineural hearing impairment, Conductive hearing impairment, Agoraphobia, EEG abnormality, Im... |
ORPHA:353281 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Protruding ear, Hyperactivity, Irritability, Hypsarrhythmia, Low-set ears, Hair-pulling |
ORPHA:447997 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Protruding ear, Ataxia, Hyperactivity, Dysmetria, Hand tremor, Gait ataxia, Sho... |
OMIM:614756 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Sensorineural hearing impairment, Hyperactivity, Cryptorchidism, Microtia, Micropenis, Hypospadia... |
OMIM:309580 |
