Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Involuntary movements, Jerky head movements, Torticollis, Focal dyston... |
ORPHA:98807 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
Developmental And Epileptic Encephalopathy 56 |
|
Poor coordination, Ataxia, EEG abnormality, Broad-based gait, Attention deficit hyperactivity dis... |
OMIM:617665 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Autism, Susceptibility To, X-Linked 3 |
|
EEG abnormality, Stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
EEG abnormality, Stereotypy |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
EEG abnormality, Stereotypy |
OMIM:300425 |
Autism |
|
EEG abnormality, Stereotypy |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
EEG abnormality, Stereotypy |
OMIM:608636 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Stereotypy |
OMIM:606053 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Stereotypy |
OMIM:300271 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Hypsarrhythmia, Stereotypy, Inability to walk, Spastic diplegia |
OMIM:617830 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... |
OMIM:613608 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... |
ORPHA:320401 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia |
OMIM:616657 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Poor coordination, Chorea, Paroxysmal dyskinesia, Falls, Stereotypy, Ataxia, EEG abnorm... |
OMIM:619150 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Dystonia, Babinski sign, Jerky head movements, Spastic gait, Spastic dysarthria, Lower limb spast... |
ORPHA:251282 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, Chorea, Inability to walk, Stereotypical hand wringing, EEG abnormality |
OMIM:618760 |
Smith-Magenis syndrome |
|
Hyperactivity, Stereotypy |
DECIPHER:8 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Spasticity |
ORPHA:99852 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Stereotypy |
OMIM:608631 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Babinski sign, Low-set, posteriorly rotated ears, Lower limb spasticity, Exaggerated startle resp... |
OMIM:618598 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, EEG abnormality |
ORPHA:436151 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, EEG abnormality, Stereotypy |
OMIM:239500 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity |
OMIM:615493 |
Gilles De La Tourette Syndrome |
|
Attention deficit hyperactivity disorder, Phonic tics, Motor tics |
OMIM:137580 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal ... |
OMIM:615924 |
N-Acetylaspartate Deficiency |
|
Unsteady gait, Truncal ataxia, Stereotypy |
OMIM:614063 |
Baker-Gordon Syndrome |
|
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... |
OMIM:618218 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Optic atrophy, Babinski sign, Abnormality of somatosensory evoked potentials, Oromandib... |
ORPHA:52368 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait |
OMIM:619470 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Spasticity |
ORPHA:356996 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618709 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Limb aprax... |
ORPHA:240103 |
Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Gait disturbance, Acroparesthesia, Frequent falls, Loss of ambulation, Spastic parapa... |
ORPHA:206443 |
Fraxe Intellectual Disability |
|
Clumsiness, Prominent ear helix, Hyperactivity, Stereotypical body rocking, Recurrent hand flapping |
ORPHA:100973 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Spasticity, Progres... |
OMIM:125250 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fasciculations, Tremor... |
OMIM:611302 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform disch... |
ORPHA:88616 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Spasticity, Stereotypy |
OMIM:617393 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Stereotypical body rocking, Recurrent hand flapping, Poor coordination |
OMIM:309548 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Atypical Rett Syndrome |
|
Involuntary movements, Dystonia, Gait disturbance, Limb myoclonus, Impaired pain sensation, Tongu... |
ORPHA:3095 |
Jeavons Syndrome |
|
EEG with focal epileptiform discharges, Limb myoclonus, Interictal epileptiform activity, Continu... |
ORPHA:139431 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Jerk-locked premyoclonus spikes, EEG with photoparoxysmal response, Giant somatosensory evoked po... |
OMIM:607876 |
Developmental And Epileptic Encephalopathy 30 |
|
Hypsarrhythmia, Stereotypy |
OMIM:616341 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Tremor, Hyperactivity, Ataxia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Autism, Susceptibility To, X-Linked 2 |
|
EEG abnormality, Stereotypy |
OMIM:300495 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Stereotypy, Tremor, Hyperactivity, Inability to walk, EEG abnormality, Spasticity |
OMIM:618718 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Abnormality of the pinna, Tremor, Hyperactivity, Ataxia, Spasticity |
OMIM:300983 |
Adult Krabbe Disease |
|
Clumsiness, Gait disturbance, Acroparesthesia, Babinski sign, Hoffmann sign, Frequent falls, Prog... |
ORPHA:206448 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... |
OMIM:601455 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements |
ORPHA:71518 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder, Poor fine motor coordination |
OMIM:617182 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Choreoathetosis, Facial palsy, Absent brainstem auditory responses, Sensorineural hearing impairm... |
OMIM:617519 |
Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Macrotia, Stereotypy |
OMIM:615541 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... |
OMIM:301008 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Tongue fasciculatio... |
OMIM:601596 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Overfolded helix, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Impaired ... |
OMIM:619092 |
Developmental And Epileptic Encephalopathy 6B |
|
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Multifocal epileptiform discharges, Ata... |
OMIM:619317 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Impaired proprioception, Abnormal auditory evoked potentials, Abnormal pyramidal sign, Gait distu... |
ORPHA:99027 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Dysmetria, EEG with generalized slow activity, Tremor,... |
ORPHA:228360 |
Huntington Disease-Like 1 |
|
Clumsiness, Gait disturbance, Involuntary movements, Jerky head movements, Frequent falls, Dysmet... |
ORPHA:157941 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Abnormal head movement... |
ORPHA:382 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Dystonia, Limb hypertonia, Oculogyric crisis, Bradykinesia, Hypertonia, Broad-based gait, Parkins... |
OMIM:617384 |
Huntington Disease-Like 3 |
|
Dystonia, Chorea, Abnormal head movements, Abnormality of extrapyramidal motor function, Extrapyr... |
ORPHA:157946 |
Juvenile Huntington Disease |
|
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia... |
ORPHA:248111 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired proprioception, Paresthesia, Impaired pain sensation, Steppage gait, Hand tremor, Optic ... |
ORPHA:101085 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Chorea, Stereotypy, Inability to walk, Stereotypical hand wringing, Spasticity, Gait at... |
OMIM:618917 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Spastic tetraparesis, Hyperactivity, Hypertonia, Hemiparesis |
OMIM:604317 |
Pontocerebellar Hypoplasia, Type 11 |
|
Poor coordination, Macrotia, Stereotypy, Ataxia, Inability to walk, Broad-based gait, Spasticity,... |
OMIM:617695 |
Chromosome 3Q29 Deletion Syndrome |
|
Macrotia, Posteriorly rotated ears, Stereotypy, Hyperactivity, Gait ataxia |
OMIM:609425 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Stereotypy |
OMIM:600795 |
Lennox-Gastaut Syndrome |
|
Myoclonus, Falls, EEG with focal sharp slow waves, Hyperactivity, EEG abnormality |
ORPHA:2382 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Hypsarrhythmia, Spasticity |
ORPHA:500545 |
Hyperekplexia 3 |
|
Hypertonia, Exaggerated startle response |
OMIM:614618 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Hypertonia, Exaggerated startle response |
ORPHA:163985 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Stereotypy, EEG w... |
ORPHA:275864 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Focal EEG discharges with secondary generalization, Shuffling gait, Lower limb spasticity, Tremor... |
ORPHA:3077 |
Episodic Ataxia Type 4 |
|
Ataxia, Abnormal head movements, Incoordination, Frequent falls |
ORPHA:79136 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Hypertonia, Spastic tetraplegia, Stereotypy |
OMIM:615282 |
Developmental And Epileptic Encephalopathy 8 |
|
Hypertonia, Exaggerated startle response |
OMIM:300607 |
Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Stereotypical hand wringing, Macrotia, Hyperkinetic movements |
ORPHA:397933 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Tetraplegia, Hyperactivity, Hypertonia, Lethargy |
OMIM:274270 |
Spinocerebellar Ataxia Type 36 |
|
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Attentio... |
ORPHA:276198 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Babinski sign, Spastic dysarthria, Stereotypy, Waddling gait, Spasticity, Progressive s... |
ORPHA:280763 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Limb hypertonia, Chorea, Abnormality of extrapyramidal motor function, Hyperactivity, I... |
ORPHA:500180 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Ataxia |
OMIM:245348 |
Landau-Kleffner Syndrome |
|
EEG with temporal focal spikes, Frequent falls, Steppage gait, EEG with generalized epileptiform ... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing, Hypsarrhythmia |
OMIM:616056 |
Optic Atrophy 11 |
|
Optic atrophy, Dysmetria, Facial diplegia, Macrotia, Hearing impairment, Hyperactivity, Ataxia, H... |
OMIM:617302 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Exaggerated start... |
ORPHA:320406 |
Cdkl5-Deficiency Disorder |
|
Gait disturbance, Impaired pain sensation, Multifocal epileptiform discharges, Stereotypical hand... |
ORPHA:505652 |
Foxg1 Syndrome |
|
Dystonia, Choreoathetosis, Myoclonus, Stereotypy, Inability to walk, Hyperkinetic movements, Ster... |
ORPHA:561854 |
Glycine Encephalopathy |
|
Hyperactivity, Myoclonus, Lethargy |
OMIM:605899 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... |
ORPHA:1215 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Macrotia, Stereotypy |
OMIM:618504 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Attention deficit hyperactivity disorder, Speech apraxia, Stereotypy |
OMIM:613670 |
Autism, Susceptibility To, 3 |
|
EEG abnormality, Stereotypy |
OMIM:608049 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Gait disturbance, Poor coordination, Abnormality of pain sensation, Macrotia, Tremor, Ataxia, Rec... |
ORPHA:544254 |
Rasmussen Subacute Encephalitis |
|
Increased theta frequency activity in EEG, Hemidystonia, Involuntary movements, EEG with focal ep... |
ORPHA:1929 |
Hyperekplexia 2 |
|
Hypertonia, Myoclonus, Exaggerated startle response |
OMIM:614619 |
Developmental And Epileptic Encephalopathy 68 |
|
Clonus, Myoclonus, Exaggerated startle response, Spasticity |
OMIM:618201 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Hearing impairment |
OMIM:248510 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, EEG with series of focal spikes, EEG with photoparoxysmal response, Myoclonus, ... |
ORPHA:168491 |
Rett Syndrome |
|
Dystonia, Gait disturbance, Limb apraxia, Bradykinesia, Stereotypy, Inability to walk, Stereotypi... |
ORPHA:778 |
Mental Retardation, Autosomal Recessive 61 |
|
Babinski sign, Posteriorly rotated ears, Hyperactivity, EEG abnormality, Spasticity |
OMIM:617773 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Spastic ataxia, Stereotypy |
OMIM:618906 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Increased theta frequency activity in EEG, Paroxysmal dystonia, Involuntary movements, Interictal... |
ORPHA:98784 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Pitt-Hopkins-Like Syndrome 1 |
|
Stereotypy, Hyperactivity, Ataxia, EEG abnormality, Spasticity |
OMIM:610042 |
Myoclonic-Astatic Epilepsy |
|
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... |
ORPHA:1942 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Spasticity, Stereotypy |
OMIM:612069 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Progressive gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, ... |
ORPHA:247815 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Spastic tetraplegia, Absent brainstem auditory responses, Head titubation, Vestibular areflexia |
ORPHA:3240 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactivity, Hypertonia, Spasticity... |
ORPHA:352490 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Prominent ear helix, Myoclonus, Hypsarrhythmia, Stereotypy, Multifocal epileptifor... |
ORPHA:411986 |
Snijders Blok-Campeau Syndrome |
|
Unsteady gait, Speech apraxia, Broad-based gait, Stereotypy |
OMIM:618205 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Macrotia, Abnormality of the pinna, Stereotypy, Hyperactivity, Ataxia, Incoordi... |
OMIM:614104 |
Fragile X Syndrome |
|
Hyperactivity, Abnormal head movements, Macrotia |
OMIM:300624 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Limb tremor, Tongue thru... |
OMIM:608643 |
Gm2-Gangliosidosis, Ab Variant |
|
Paralysis, Dystonia, Chorea, Exaggerated startle response, Spastic tetraparesis, Hypertonia, Abno... |
OMIM:272750 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abno... |
ORPHA:363400 |
Mental Retardation, Autosomal Recessive 41 |
|
Stereotypy |
OMIM:615637 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Macrotia, Stereotypy, Tremor, Hyperkinetic movements |
ORPHA:457240 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Dystonia, Optic atrophy, Abnormality of the pinna, Stereotypy, Spasticity, Unsteady gait, Gait at... |
OMIM:617807 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Optic disc pallor, Myoclonic spasms, Poor motor coordination, Stereotypy, Loss of abi... |
ORPHA:79264 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
Obesity, Hyperphagia, And Developmental Delay |
|
Stereotypy |
OMIM:613886 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Sensorineural hearing impair... |
OMIM:609727 |
Xq28 (MECP2) duplication |
|
Progressive spasticity, Macrotia, Stereotypy, Inability to walk, Gait ataxia |
DECIPHER:45 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Broad-based gait, Stereotypy |
OMIM:301029 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Chorea, Exaggerated startle response, Progressive spastic quadriplegia, Abnormal pyrami... |
ORPHA:309246 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with occipital epileptiform discharges, Head tremor, Hypsarrhythmia, Stereotypy, Ataxia, Cont... |
OMIM:619428 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking, Rigidity |
ORPHA:3198 |
New-Onset Refractory Status Epilepticus |
|
EEG with temporal epileptiform discharges, Abnormal head movements, EEG with generalized epilepti... |
ORPHA:363558 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Myoclonus, Tongue thrusting, Tremor, Hyperactivity, Ataxia, EEG abnormality, EEG ... |
ORPHA:98794 |
Christianson Syndrome |
|
Dystonia, Macrotia, Stereotypy, Truncal ataxia, Gait ataxia |
ORPHA:85278 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617044 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, EEG abnormality, Broad-based gait |
ORPHA:411515 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Hearing impairment, Stereotypy,... |
OMIM:619580 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, EEG abnormality, Hyperkinetic movements |
OMIM:271980 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Spasticity, Broad-based gait, Hearing impairment |
ORPHA:457260 |
Developmental And Epileptic Encephalopathy 87 |
|
Recurrent hand flapping, Hypertonia, Hypsarrhythmia |
OMIM:618916 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Dystonia, Optic atrophy, Babinski sign, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hypera... |
OMIM:610217 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
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Hyperactivity, Hypertonia, Tics, Broad-based gait, Unsteady gait |
OMIM:617865 |
Gand Syndrome |
|
Tics, Hyperactivity |
OMIM:615074 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Recurrent hand flapping |
OMIM:615516 |
Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Eye poking |
OMIM:204000 |
Acrocraniofacial Dysostosis |
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Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Myopathy With Extrapyramidal Signs |
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Clumsiness, Dystonia, Optic atrophy, Clonus, Choreoathetosis, Frequent falls, Chorea, Abnormality... |
OMIM:615673 |
Lamb-Shaffer Syndrome |
|
Optic atrophy, Stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction |
ORPHA:530983 |
Childhood Absence Epilepsy |
|
Jerky head movements, Limb myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz), Punding, Attent... |
ORPHA:64280 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Spastic paraplegia, Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
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Upper limb spasticity, Chorea, Myoclonus, Lower limb spasticity, Progressive cerebellar ataxia, H... |
ORPHA:485350 |
Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Bilateral Generalized Polymicrogyria |
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Dystonia, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid myoclonus, Spasticity, O... |
ORPHA:208447 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
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Recurrent hand flapping, Spasticity |
OMIM:618859 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
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Recurrent hand flapping, Macrotia, EEG abnormality |
OMIM:617268 |
Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
Hyperekplexia 1 |
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Hypertonia, Myoclonus, Exaggerated startle response, Frequent falls |
OMIM:149400 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Interictal epileptiform activity, Cerebral palsy, EEG with generalized epileptiform discharges, L... |
ORPHA:163681 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
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Sensorineural hearing impairment, Hyperactivity |
OMIM:618342 |
Infantile Neuroaxonal Dystrophy |
|
Progressive spasticity, Dystonia, Gait disturbance, Abnormality of peripheral nerve conduction, O... |
ORPHA:35069 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
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Optic atrophy, Hearing impairment, Tetraplegia, Hyperactivity, Abnormal pyramidal sign |
ORPHA:369939 |
Tay-Sachs Disease |
|
Clumsiness, Optic atrophy, Gait disturbance, Dystonia, Progressive spasticity, Frequent falls, Dy... |
ORPHA:845 |
Infantile Krabbe Disease |
|
Optic atrophy, Opisthotonus, Myoclonus, Hyperesthesia, Decreased nerve conduction velocity, Lower... |
ORPHA:206436 |
Cerebrotendinous Xanthomatosis |
|
Parkinsonism, Dystonia, Gait disturbance, Optic disc pallor, Optic atrophy, Abnormal auditory evo... |
ORPHA:909 |
Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Tongue thrusting, Ataxia, EEG abnormality, Broad-based gait, Recurrent hand flapping |
ORPHA:411511 |
X-Linked Adrenoleukodystrophy |
|
Progressive hearing impairment, Gait disturbance, Clumsiness, Paralysis, Paraparesis, Progressive... |
ORPHA:43 |
Coffin-Siris Syndrome 6 |
|
Conductive hearing impairment, Low-set, posteriorly rotated ears, Stereotypy, Tics, Attention def... |
OMIM:617808 |
Pick Disease Of Brain |
|
Stereotypy |
OMIM:172700 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
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Babinski sign, Scissor gait, Facial diplegia, Dysmetria, Spastic gait, Spastic tetraplegia, Stere... |
OMIM:619121 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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EEG with multifocal slow activity, Hypertonia, Myoclonus, Stereotypical hand wringing |
ORPHA:289266 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity |
OMIM:616977 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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EEG with focal epileptiform discharges, Gait imbalance, Tongue thrusting, EEG abnormality, Broad-... |
ORPHA:98795 |
Mental Retardation, Autosomal Dominant 40 |
|
Stereotypy, Gait ataxia, Impaired pain sensation |
OMIM:616579 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Ataxia,... |
OMIM:619260 |
Smith-Magenis Syndrome |
|
Morphological abnormality of the middle ear, Impaired pain sensation, Hearing impairment, Stereot... |
OMIM:182290 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Oculogyric crisis |
ORPHA:178469 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Aganglionic megacolon, Chorea, Hyperactivity, Ataxia, Hypertonia |
ORPHA:52503 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials, Cerebral palsy |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials, Cerebral palsy |
ORPHA:529799 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Spastic tetraplegia, Se... |
OMIM:609136 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hearing impair... |
ORPHA:139396 |
Xq25 Microduplication Syndrome |
|
Hyperactivity |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity |
OMIM:300979 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Stereotypy, Broad-based gait, Hearing impairment |
OMIM:616351 |
4Q21 Microdeletion Syndrome |
|
Stereotypy, Tremor, Hearing impairment |
ORPHA:238750 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Parkinsonism, Gait disturbance, Dystonia, Optic atrophy, Rigidity, Eyelid apraxia, Choreoathetosi... |
OMIM:234200 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Tetraparesis, Stereotypy |
ORPHA:85277 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Oromotor apraxia, Repetitive compulsive behavior, EEG abnormality, Spasticity, Attention deficit ... |
ORPHA:391372 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Abnormality of superior crus of antihelix, Macrotia, Hyperactivity, Prominent crus of helix, Atte... |
OMIM:301013 |
Rett Syndrome, Congenital Variant |
|
Athetosis, Dystonia, Chorea, Tongue thrusting, Stereotypy, EEG abnormality, Apraxia, Spasticity, ... |
OMIM:613454 |
Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscl... |
ORPHA:166108 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral palsy, Sensorineural hearing impairment, Hyperactivity, Hypertonia, Ataxia, Spasticity, ... |
ORPHA:760 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Progressive spasticity, Rigidity, Chorea, Macrotia, Lower limb spasticity, Stereotypy, Repetitive... |
OMIM:300260 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Dystonia, EEG with series of focal spikes, Choreoathetosis, Chorea, Stereotypy, Repetitive compul... |
ORPHA:522077 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Spasticity, Broad-based gait, Hearing impairment |
OMIM:300958 |
Potocki-Lupski Syndrome |
|
Stereotypy, Hyperactivity, EEG abnormality, Hearing impairment |
OMIM:610883 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Macrotia, Posteriorly rotated ears, Hearing impairment |
OMIM:618027 |
Kohlschutter-Tonz Syndrome-Like |
|
EEG with focal spike waves, Upper limb spasticity, Myoclonus, Hypsarrhythmia, Posteriorly rotated... |
OMIM:619229 |
Cockayne Syndrome Type 1 |
|
Gait disturbance, Optic atrophy, Absent brainstem auditory responses, Macrotia, Lower limb spasti... |
ORPHA:90321 |
Sandhoff Disease |
|
Impaired temperature sensation, Orthostatic hypotension, Exaggerated startle response, Fasciculat... |
OMIM:268800 |
48,Xxyy Syndrome |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:10 |
Mental Retardation, Autosomal Dominant 48 |
|
Sensorineural hearing impairment, Abnormality of the pinna, Stereotypy |
OMIM:617751 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Spasticity |
OMIM:618367 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
EEG with burst suppression, Hyperactivity, Hypsarrhythmia |
OMIM:619239 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Stereotypy |
ORPHA:228402 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Stereotypy, Ataxia, Paraplegia, Lethargy |
ORPHA:927 |
5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Stereotypy |
ORPHA:228384 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Dystonia, Gait disturbance, Aganglionic megacolon, Poor hand-eye coordination, Stereotypy, Spasti... |
OMIM:300352 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Optic atrophy, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:313892 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Hearing impairment, Attention deficit hyperactivity disord... |
ORPHA:401777 |
Radio-Tartaglia Syndrome |
|
Large earlobe, Conductive hearing impairment, Gait imbalance, Hearing impairment, Stereotypy, Ata... |
OMIM:619312 |
Phenylketonuria |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
EEG with frontal sharp slow waves, Limb hypertonia, Hypsarrhythmia, Stereotypy, Sensorineural hea... |
ORPHA:457351 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Stereotypy |
ORPHA:391307 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, ... |
ORPHA:261197 |
Ogden Syndrome |
|
Torticollis, Abnormal head movements, Macrotia, Shuffling gait, Hypertonia, Lethargy |
ORPHA:276432 |
Developmental And Epileptic Encephalopathy 2 |
|
Myoclonus, Hypsarrhythmia, EEG with generalized slow activity, Stereotypy, Inability to walk |
OMIM:300672 |
Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Hypertonia, Stereotypy |
ORPHA:79155 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Gait disturbance, Stereotypy, Ataxia, Hypertonia, Recurrent hand flapping, Attention deficit hype... |
OMIM:300986 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Spasticity |
OMIM:615286 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Clumsiness, Hyperactivity, Macrotia |
OMIM:300558 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Posterior helix pit |
OMIM:613684 |
Stiff-Person Syndrome |
|
Myoclonic spasms, Opisthotonus, Rigidity, Frequent falls, Exaggerated startle response |
OMIM:184850 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Hyperactivity, Gait ataxia, Abnormality of the pinna |
OMIM:300354 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Macrotia, Stereotypy, Hyperactivity, Spasticity, Gait ataxia |
OMIM:300486 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Low-set, posteriorly rotated ears, Stereotypy |
ORPHA:3306 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dystonia, Torticollis, Optic nerve hypoplasia, Spastic ataxia, Stereotypy, Sensorineural hearing ... |
ORPHA:300570 |
Macrocephaly-Developmental Delay Syndrome |
|
EEG with generalized slow activity, Stereotypy |
ORPHA:397612 |
Dilated Cardiomyopathy With Ataxia |
|
Dystonia, Optic atrophy, Lower limb spasticity, Repetitive compulsive behavior, Ataxia, Bilateral... |
ORPHA:66634 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Macrotia, Hypsarrhythmia, Lower limb spasticity, Stereotypy, Ataxia, Hyperactivity, Stereotypical... |
OMIM:300912 |
Cri-Du-Chat Syndrome |
|
Optic atrophy, Abnormality of the pinna, Hearing impairment, Stereotypy, Hyperactivity, Hypertoni... |
OMIM:123450 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Spasticity |
OMIM:619467 |
Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Macrotia, Hypsarrhythmia, Spastic tetraplegia |
OMIM:615574 |
Microphthalmia-Brain Atrophy Syndrome |
|
Tongue thrusting, Spasticity |
ORPHA:77299 |
Angelman Syndrome |
|
Clumsiness, Limb tremor, Progressive gait ataxia, Hyperactivity, EEG abnormality, Broad-based gait |
OMIM:105830 |
Megalocornea-Intellectual Disability Syndrome |
|
Stereotypy, Sensorineural hearing impairment, Ataxia, EEG abnormality, Protruding ear |
ORPHA:2479 |
Limbic Encephalitis With Nmda Receptor Antibodies |
|
Involuntary movements, Abnormal sudomotor regulation, Dystonia, Orthostatic tachycardia, Opisthot... |
ORPHA:217253 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Brain-Lung-Thyroid Syndrome |
|
Clumsiness, Dystonia, Involuntary movements, Choreoathetosis, Chorea, Myoclonus, Falls, Intention... |
ORPHA:209905 |
Hyperlysinemia |
|
Clumsiness, Opisthotonus, Poor motor coordination, Dysmetria, Tremor, Hyperactivity, Hypoplasia o... |
ORPHA:2203 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Progressive spasticity, Dystonia, Optic atrophy, Cataplexy, Macrotia, Fasciculations, Stereotypy,... |
ORPHA:496641 |
Angelman Syndrome |
|
Optic atrophy, Optic disc pallor, Myoclonus, Tongue thrusting, Tremor, Hyperactivity, Inability t... |
ORPHA:72 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Prominent antihelix, Stereotypy |
OMIM:618825 |
22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Stereotypy, Anterior creases of earlobe, Hearing impair... |
ORPHA:1727 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
Adenylosuccinase Deficiency |
|
Opisthotonus, Myoclonus, Hyperactivity, Inability to walk, Spasticity, Gait ataxia |
OMIM:103050 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Macrotia, Stereotypy, Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity dis... |
ORPHA:449291 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Macrotia, Hearing impairment, Multifocal epileptiform discharges, Hyperactivity, Ataxia, Incoordi... |
ORPHA:369891 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Congenital sensorineural hearing impairment, Stereotypy, Sensorineural hearing impairment, Abnorm... |
ORPHA:500159 |
Tay-Sachs Disease |
|
Hypertonia, Exaggerated startle response |
OMIM:272800 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Uplifted earlobe |
OMIM:300143 |
Smith-Magenis Syndrome |
|
Conductive hearing impairment, Gait disturbance, Impaired pain sensation, Stereotypy, EEG abnorma... |
ORPHA:819 |
Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Dystonia, Limb hypertonia, Rigidity, Low-set, posteriorly rotated ears, Hypsarrhyt... |
ORPHA:521426 |
Childhood Disintegrative Disorder |
|
Stereotypy |
ORPHA:168782 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Bil... |
ORPHA:73272 |
Niemann-Pick Disease, Type C2 |
|
Dystonia, Cataplexy, Stereotypy, Ataxia, Spasticity |
OMIM:607625 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Attention deficit hyperactivity disorder, Posteriorly rotated ears, Stereotypy |
OMIM:619293 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Stereotypy |
ORPHA:529965 |
Cockayne Syndrome A |
|
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, D... |
OMIM:216400 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Cupped ear, Hypertonia, Stereotypy |
OMIM:618914 |
3P25.3 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Ataxia, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:435638 |
Alazami Syndrome |
|
Stereotypical hand wringing, Stereotypy |
ORPHA:319671 |
Mend Syndrome |
|
Hyperactivity, Hypertonia |
OMIM:300960 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait |
ORPHA:438216 |
Cystinosis |
|
Gait disturbance, Abnormal pyramidal sign, Stereotypy |
ORPHA:213 |
Phelan-Mcdermid Syndrome |
|
Impaired pain sensation, Macrotia, Tongue thrusting, Hearing impairment, Stereotypy, Broad-based ... |
OMIM:606232 |
Ritscher-Schinzel Syndrome 4 |
|
Athetosis, Chorea, Macrotia, Stereotypy, Ataxia |
OMIM:619435 |
Distal Xq28 Microduplication Syndrome |
|
Stereotypical body rocking, Absent antihelix, Tip-toe gait, Microtia, Attention deficit hyperacti... |
ORPHA:293939 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Clonus, Myoclonic spasms, Hypsarrhythmia, Lower limb spasticity, Stereotypy, Hyperactivity, Hyper... |
ORPHA:447997 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Low-set, posteriorly rotated ears, Stereotypy |
OMIM:615873 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Poor coordination, Posteriorly rotated ears, Hyperactivity, Ataxia, Spasticity |
OMIM:618430 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Protruding ear, Abnormal antihelix morphology, Stereotypy |
ORPHA:261144 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Clonus, Hypertonia, Exaggerated startle response |
OMIM:617301 |
Early Infantile Epileptic Encephalopathy |
|
Dystonia, Choreoathetosis, Myoclonus, Hypsarrhythmia, Tremor, Hyperactivity, EEG with burst suppr... |
ORPHA:1934 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:133540 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Hypertonia, Ataxia, Posteriorly rotated ears |
OMIM:601853 |
Trisomy 10P |
|
Low voltage EEG, Abnormal auditory evoked potentials, Poor motor coordination, Macrotia, Posterio... |
ORPHA:171929 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrotia, Posteriorly rotated ears, Stereotypy, Sensorineural hearing impairment, Hypertonia, Uns... |
OMIM:212066 |
Sandifer Syndrome |
|
Torticollis, Abnormal head movements |
ORPHA:71272 |
Transketolase Deficiency |
|
Stereotypy, Attention deficit hyperactivity disorder, Hearing impairment |
ORPHA:488618 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity |
OMIM:615824 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Dystonia, Absent brainstem auditory responses, Optic atrophy |
ORPHA:79330 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Attention deficit hyperactivity disorder, Gait ataxia, Stereotypy |
ORPHA:476126 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Tics, Hyperactivity, Optic nerve hypoplasia, Lower limb spasticity |
ORPHA:363686 |
Choreoacanthocytosis |
|
Oromandibular dystonia, Phonic tics, Lingual dystonia, Loss of ambulation, Bradykinesia, Decrease... |
ORPHA:2388 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Babinski sign, Macrotia, Shuffling gait, Hyperactivity, Spasticity, Protruding ear, Progressive s... |
OMIM:300534 |
X-Linked Intellectual Disability, Cabezas Type |
|
Abnormal earlobe morphology, Tremor, Hyperactivity, EEG abnormality, Broad-based gait |
ORPHA:85293 |
Chromosome 5P13 Duplication Syndrome |
|
Stereotypy |
OMIM:613174 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor |
ORPHA:99819 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity |
OMIM:275000 |
Bainbridge-Ropers Syndrome |
|
Inability to walk, Recurrent hand flapping, Hypertonia |
ORPHA:352577 |
Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Limb hypertonia |
ORPHA:401973 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Babinski sign, Rigidity, Abnormality of extrapyramidal motor function, Posteriorly... |
OMIM:617527 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Hearing impairment |
OMIM:252900 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor |
ORPHA:424 |
2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:1001 |
White-Sutton Syndrome |
|
Optic atrophy, Posteriorly rotated ears, Stereotypy, Sensorineural hearing impairment, Hyperactiv... |
ORPHA:468678 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Cerebral palsy, Isometric tremor, Stereotypy, Hearing impairment, Protruding ear, Cl... |
OMIM:619475 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Dysmetria, Overfolded helix, Posteriorly rotated ears, Speech apraxia, Stereotypy, Ataxia, Trunca... |
OMIM:617330 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Babinski sign, Macrotia, Stereotypy, Prominent antihelix, Hypertonia, Spasticity |
OMIM:615802 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Unsteady gait, Ataxia, Stereotypy |
ORPHA:457279 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Attention deficit hyperactivity disorder, Stereotypy |
OMIM:619103 |
Bainbridge-Ropers Syndrome |
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Posteriorly rotated ears, Stereotypy, Inability to walk, Hypertonia, Recurrent hand flapping |
OMIM:615485 |
Kleefstra Syndrome 1 |
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Stereotypy, Abnormality of the pinna, Hearing impairment |
OMIM:610253 |
16P11.2P12.2 Microdeletion Syndrome |
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Tics, Hyperactivity, Abnormality of the pinna, Hearing impairment |
ORPHA:261211 |
Mucopolysaccharidosis, Type Iiib |
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Hyperactivity, Hearing impairment |
OMIM:252920 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
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Macrotia, Hyperactivity, Abnormality of the pinna, Speech apraxia |
OMIM:618505 |
Pediatric-Onset Graves Disease |
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Tremor, Hyperactivity, Hyperkinetic movements |
ORPHA:525731 |
7Q11.23 Microduplication Syndrome |
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Large earlobe, Abnormal earlobe morphology, Dysmetria, Overfolded helix, Abnormality of the optic... |
ORPHA:96121 |
Brooks-Wisniewski-Brown syndrome |
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Optic atrophy, Poor coordination, Posteriorly rotated ears, Hyperactivity, Spastic diplegia, EEG ... |
OMIM:300612 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
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Hyperactivity |
OMIM:618314 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Stereotypy, Attention deficit hyperactivity disorder, EEG abnormality, Impaired pain sensation |
OMIM:619005 |
Gm1 Gangliosidosis Type 1 |
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Macrotia, Exaggerated startle response, Hearing impairment, Decerebrate rigidity, Spasticity |
ORPHA:79255 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity |
ORPHA:85327 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Repetitive compulsive behavior, Parkinsonism, Apraxia |
OMIM:607485 |
Mucopolysaccharidosis, Type Iiic |
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Hyperactivity, Hearing impairment |
OMIM:252930 |
Dpagt1-Cdg |
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Optic atrophy, Hypsarrhythmia, EEG with generalized slow activity, Hearing impairment, Tremor, At... |
ORPHA:86309 |
Argininemia |
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Frequent falls, Spastic gait, Hyperactivity, Progressive spastic quadriplegia, Spastic paraparesis |
OMIM:207800 |
Citrullinemia Type Ii |
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Tremor, Hyperactivity, Lethargy |
ORPHA:247585 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Optic disc pallor, Optic nerve hypoplasia, Low-set, posteriorly rotated ears, Stereotypy, Hyperto... |
ORPHA:468631 |
Mucopolysaccharidosis Type 3 |
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Gait disturbance, Conductive hearing impairment, Optic atrophy, Loss of ambulation, Hearing impai... |
ORPHA:581 |
21Q22.11Q22.12 Microdeletion Syndrome |
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Hyperactivity, Stereotypical body rocking, Tongue thrusting, Microtia |
ORPHA:261323 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Inability to walk, Opisthotonus, Hypertonia, Stereotypy |
ORPHA:508533 |
Kleefstra Syndrome |
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Stereotypy, Thickened helices, Hearing impairment |
ORPHA:261494 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Hyperactivity, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous sys... |
OMIM:256800 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Poor motor coordination, Dysmetria, Hyperactivity, Ataxia, Unsteady gait, Protruding ear, Short ear |
OMIM:614756 |
Pyruvate Carboxylase Deficiency |
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Dystonia, Tremor, Ataxia, Tip-toe gait, Abnormal pyramidal sign, Recurrent hand flapping |
ORPHA:3008 |
Microcephaly 26, Primary, Autosomal Dominant |
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Spastic tetraparesis, Stereotypical hand wringing |
OMIM:619179 |
Stankiewicz-Isidor Syndrome |
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Hyperactivity, Abnormality of the optic disc, Hearing impairment |
OMIM:617516 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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EEG with occipital focal spikes, EEG with central focal spikes, EEG with parietal focal spikes, P... |
OMIM:301066 |
Joubert Syndrome 1 |
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Optic disc pallor, Optic disc coloboma, Hyperactivity, Ataxia, Oculomotor apraxia, Hemifacial spasm |
OMIM:213300 |
Ogden Syndrome |
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Hypertonia, Macrotia, Stereotypy |
OMIM:300855 |
Cardiofaciocutaneous Syndrome 1 |
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Large earlobe, Tongue thrusting, Posteriorly rotated ears, Hearing impairment, Oculomotor apraxia... |
OMIM:115150 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Gait disturbance, Protruding ear, Optic disc pallor, Stereotypy, Attention deficit hyperactivity ... |
ORPHA:464311 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Gait ataxia, Stereotypy, Repetitive compulsive behavior, Stereotypical body rocking, Broad-based ... |
ORPHA:513456 |
Legius Syndrome |
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Dystonia, Vestibular Schwannoma, Hearing impairment, Hyperactivity, Attention deficit hyperactivi... |
ORPHA:137605 |
Mgat2-Cdg |
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Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hypsarrhythmia, Posteriorly rotat... |
ORPHA:79329 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Gait disturbance, Optic disc pallor, Macrotia, Stereotypy, Hyperactivity, Protruding ear |
ORPHA:464306 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Sensorineural hearing impairment, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:619575 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Optic atrophy, Macrotia, Posteriorly rotated ears, Stereotypy, Sensorineural hearing impairment, ... |
OMIM:619512 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Optic atrophy, Exaggerated startle response |
OMIM:253800 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
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Tongue thrusting, Posteriorly rotated ears, Hearing impairment, Hemiparesis, Broad-based gait, Un... |
ORPHA:369950 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Jerky head movements, Hearing impairment, Multifocal epileptiform discharges, EEG with spike-wave... |
ORPHA:369837 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity |
OMIM:609152 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Optic atrophy, Poor coordination, Posteriorly rotated ears, Hearing impairment, Stereotypy, Hyper... |
OMIM:309590 |
Mucopolysaccharidosis Type 2 |
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Conductive hearing impairment, Optic atrophy, Otosclerosis, Decreased nerve conduction velocity, ... |
ORPHA:580 |
Arboleda-Tham Syndrome |
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Gait imbalance, Prominent antitragus, Posteriorly rotated ears, Stereotypy, Underdeveloped tragus... |
OMIM:616268 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Unsteady gait, Stereotypy |
OMIM:616682 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Overfolded helix, Difficulty walking, Stereotypy |
OMIM:618653 |
Wiedemann-Steiner Syndrome |
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Hyperactivity, Stereotypy |
ORPHA:319182 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Optic nerve hypoplasia, Abnormality of the optic disc, Facial palsy, Stereotypy, Hearing impairment |
ORPHA:508498 |
Prader-Willi Syndrome Due To Translocation |
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Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:177907 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Involuntary movements, Dystonia, Optic disc pallor, Myoclonus, Exaggerated startle response, Inab... |
ORPHA:438213 |
Kinsship Syndrome |
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Spastic tetraparesis, Myoclonus, Stereotypy |
OMIM:619297 |
Norrie Disease |
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Optic atrophy, Clonus, Macrotia, Stereotypy, Sensorineural hearing impairment, Attention deficit ... |
ORPHA:649 |
1P36 Deletion Syndrome |
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Conductive hearing impairment, Optic atrophy, Gait disturbance, Low-set, posteriorly rotated ears... |
ORPHA:1606 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Overfolded helix, Hypsarrhythmia, Posteriorly rotated ears, Stereotypy, Spastic tetraparesis, Hyp... |
OMIM:301044 |
Oculocerebrorenal Syndrome Of Lowe |
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Clonus, Protruding ear, Low-set, posteriorly rotated ears, Stereotypy, EEG abnormality, Attention... |
ORPHA:534 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Gait disturbance, Hearing impairment, Ataxia, Hypertonia, Stereotypical hand wringing, Broad-base... |
ORPHA:268261 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Posteriorly rotated ears, Exaggerated startle response, Stereotypy, Microtia, Small earlobe, Atte... |
OMIM:619522 |
Coffin-Siris Syndrome 12 |
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Large earlobe, Simple ear, Facial palsy, Overfolding of the superior helices, Posteriorly rotated... |
OMIM:619325 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Conductive hearing impairment, Stereotypy, Sensorineural hearing impairment, Hyperactivity, EEG a... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome 1 |
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Aganglionic megacolon, Poor coordination, Abnormality of the pinna, Hearing impairment, Stereotyp... |
OMIM:180849 |
Wolf-Hirschhorn Syndrome |
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Conductive hearing impairment, Abnormality of the pinna, Stereotypy, Sensorineural hearing impair... |
OMIM:194190 |
Tuberous Sclerosis Complex |
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Repetitive compulsive behavior, Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:805 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Conductive hearing impairment, Stereotypy, Sensorineural hearing impairment, Hyperactivity, EEG a... |
ORPHA:353277 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Conductive hearing impairment, Stereotypy, Sensorineural hearing impairment, Hyperactivity, EEG a... |
ORPHA:353284 |
Mowat-Wilson Syndrome |
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Conductive hearing impairment, Aganglionic megacolon, Impaired pain sensation, Posteriorly rotate... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Aganglionic megacolon, Impaired pain sensation, Posteriorly rotated ears, Stereotypy, Sensorineur... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Optic atrophy, Aganglionic megacolon, Impaired pain sensation, Posteriorly rotated ears, Stereoty... |
ORPHA:261552 |
Primrose Syndrome |
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Calcification of the auricular cartilage, Macrotia, Stereotypy, Hearing impairment, Tics |
OMIM:259050 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Falls, Macrotia, Congenital Horner syndrome, Stereotypical body rocking, Tip-toe gait, EEG abnorm... |
OMIM:619503 |
Lowe Oculocerebrorenal Syndrome |
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Stereotypy |
OMIM:309000 |