Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Resting tremor, Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalizati... |
ORPHA:3077 |
Stxbp1-Related Encephalopathy |
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Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifoca... |
ORPHA:599373 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment |
OMIM:620270 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Hyperprolinemia, Type I |
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Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive... |
OMIM:239500 |
Auditory Neuropathy, Autosomal Dominant 1 |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Developmental And Epileptic Encephalopathy 104 |
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Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Ravine Syndrome |
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Abnormal auditory evoked potentials, Ataxia, Anorexia |
ORPHA:99852 |
Mohr-Tranebjaerg Syndrome |
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Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, S... |
ORPHA:52368 |
Developmental And Epileptic Encephalopathy 43 |
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Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder |
OMIM:617113 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ... |
OMIM:619470 |
Intellectual Developmental Disorder, X-Linked 111 |
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Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Glycine Encephalopathy 1 |
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Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia |
OMIM:605899 |
Intellectual Developmental Disorder, X-Linked 104 |
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Hyperactivity, Ataxia, Abnormal pinna morphology, Aggressive behavior, Tremor, Optic atrophy |
OMIM:300983 |
Landau-Kleffner Syndrome |
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Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... |
ORPHA:98818 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
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Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, EEG abnormality, Self-mutilation |
OMIM:604317 |
Hartnup Disorder |
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Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
8p23.1 deletion syndrome |
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Cryptorchidism, Hyperactivity |
DECIPHER:39 |
Late-Infantile/Juvenile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased nerve conduction veloci... |
ORPHA:206443 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia |
OMIM:615924 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears,... |
OMIM:618718 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... |
OMIM:612716 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Coffin-Siris Syndrome 8 |
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Cryptorchidism, Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
Morm Syndrome |
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Hyperactivity, Micropenis, Aggressive behavior |
ORPHA:75858 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Hearing impairment, Aggressive behavior |
ORPHA:208441 |
Lennox-Gastaut Syndrome |
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Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves |
ORPHA:2382 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Phenylketonuria |
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Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... |
OMIM:261600 |
Cln5 Disease |
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Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Tremor, Inability to w... |
ORPHA:228360 |
Diethylstilbestrol Syndrome |
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Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Guanidinoacetate Methyltransferase Deficiency |
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Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Optic Atrophy 8 |
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Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Juvenile Huntington Disease |
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Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb... |
ORPHA:248111 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
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Hyperactivity, Aggressive behavior, Cryptorchidism, Unsteady gait, Depression, Self-injurious beh... |
ORPHA:485350 |
Rasmussen Subacute Encephalitis |
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Hyperactivity, Hemidystonia, Inability to walk, Increased theta frequency activity in EEG, EEG wi... |
ORPHA:1929 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, EEG ab... |
ORPHA:500180 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, EEG abnormality, Elevated ci... |
OMIM:271980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Hyperactivity, Hypospadias, Abnormal pinna morphology, Aggressive behavior, Tremor, Cryptorchidis... |
OMIM:300354 |
Fragile X Syndrome |
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Macroorchidism, postpubertal, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping, Cong... |
OMIM:300624 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
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Hyperactivity, Broad-based gait, Aggressive behavior, Precocious puberty, Hearing impairment |
ORPHA:457260 |
Intellectual Developmental Disorder, X-Linked 21 |
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Macroorchidism, Hyperactivity, Uplifted earlobe, Impulsivity |
OMIM:300143 |
47,Xyy Syndrome |
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Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Tremor, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Action tremor, Gait disturbance, Abnorm... |
ORPHA:99027 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
2Q23.1 Microdeletion Syndrome |
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Hyperactivity, Hypoplasia of penis, Ataxia, Abnormal repetitive mannerisms, Cryptorchidism, Self-... |
ORPHA:228402 |
Optic Atrophy 11 |
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Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Gait ... |
OMIM:617302 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
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Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, EEG with generalized polyspikes, ... |
ORPHA:163681 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Leukodystrophy, Hypomyelinating, 13 |
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Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... |
ORPHA:1215 |
Inverted Duplicated Chromosome 15 Syndrome |
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Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... |
ORPHA:3306 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Broad-based gait, Hyperactivity, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Myoclonic-Astatic Epilepsy |
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EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, Uns... |
ORPHA:1942 |
Charcot-Marie-Tooth Disease Type 1F |
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Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... |
ORPHA:101085 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Hyperactivity, Hypoglycemia, Congenital sensorineural hearing impairment, Sensorineural hearing i... |
ORPHA:73272 |
Fg Syndrome 3 |
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Cryptorchidism, Hyperactivity, Sensorineural hearing impairment |
OMIM:300406 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Low frustration tolerance, Microphallu... |
OMIM:300486 |
Stankiewicz-Isidor Syndrome |
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Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic disc morphology, Low-set ... |
OMIM:617516 |
Abcd Syndrome |
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Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Inability to walk, EEG... |
ORPHA:168491 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Intellectual Developmental Disorder, X-Linked 107 |
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Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Ataxia, Tremor, Cryptorchidism, Optic atrophy, Gait disturba... |
ORPHA:90321 |
Citrullinemia Type Ii |
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Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... |
ORPHA:247585 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha... |
ORPHA:85327 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Cryptorchidism, Hyperactivity, Diabetes mellitus, Hypospadias |
OMIM:614613 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, EEG with abnormally sl... |
ORPHA:98794 |
Developmental And Epileptic Encephalopathy 103 |
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EEG with polyspike wave complexes, Hyperactivity, Ataxia, EEG with burst suppression, Opisthotonu... |
OMIM:619913 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hyperactivity, Diabetes mellitus, Aggressive behavior, Macrotia, Depression, Irritability, Self-i... |
ORPHA:449291 |
Mend Syndrome |
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Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Elevated... |
ORPHA:401973 |
Porphyria Due To Ala Dehydratase Deficiency |
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Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... |
ORPHA:100924 |
X-Linked Creatine Transporter Deficiency |
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Hyperactivity, Ataxia, Aganglionic megacolon, Abnormal circulating creatine concentration, Atheto... |
ORPHA:52503 |
Cerebrotendinous Xanthomatosis |
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Resting tremor, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Aggressive behavi... |
ORPHA:909 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... |
OMIM:617600 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Arthrogryposis, Distal, Type 2A |
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Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity diso... |
OMIM:610042 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,... |
OMIM:137920 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529799 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... |
OMIM:609136 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Mogs-Cdg |
|
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... |
ORPHA:79330 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, ... |
OMIM:610217 |
Trisomy 10P |
|
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... |
ORPHA:171929 |
Cockayne Syndrome A |
|
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Cryptorchidism, D... |
OMIM:216400 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
Cockayne Syndrome B |
|
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Cryptorchidism, D... |
OMIM:133540 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Loss of ... |
ORPHA:2388 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Precocious puberty, Tremor, EEG with burst suppression, Hypsarrhythmia, Choreoathe... |
ORPHA:1934 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Sensorineural hearing impairment, Papillary cystadeno... |
OMIM:193300 |
Floating-Harbor Syndrome |
|
Restlessness, Broad-based gait, Hypospadias, Impulsivity, Aggressive behavior, Precocious puberty... |
ORPHA:2044 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Optic atrophy, Phonic tics, Depression, Choreo... |
OMIM:234200 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor, Agitation, Thyroid hyperplasia, Goiter |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor, Agitation, Thyroid hyperplasia, Goiter |
ORPHA:424 |
Floating-Harbor Syndrome |
|
Hypospadias, Posteriorly rotated ears, Aggressive behavior, Cryptorchidism, Glandular hypospadias... |
OMIM:136140 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Pancreatic cysts, Adrenal p... |
ORPHA:892 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |