Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... |
ORPHA:98807 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Impaired vibration sensation at ankles, Dysdiadochokinesis, Bab... |
ORPHA:101007 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Jerky h... |
ORPHA:251282 |
Deafness, Autosomal Recessive 18B |
|
Hearing impairment |
OMIM:614945 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Ataxia, Abnormal head movements |
ORPHA:71518 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Ataxia, Cochlear degeneration |
OMIM:271250 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Episodic Ataxia Type 4 |
|
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo |
ORPHA:79136 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... |
ORPHA:320401 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Hyperactivity, Abnormality of extrapyramidal motor function, Chorea, Athetosis, Progressi... |
ORPHA:382 |
Dystonia 31 |
|
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... |
OMIM:619565 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Hearing impairment, Myoclonus, Ataxia |
OMIM:159800 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
Mohr-Tranebjaerg Syndrome |
|
Oromandibular dystonia, Absent brainstem auditory responses, Sensorineural hearing impairment, Po... |
ORPHA:52368 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... |
ORPHA:705 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... |
OMIM:601382 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Ravine Syndrome |
|
Ataxia, Spasticity, Abnormal auditory evoked potentials |
ORPHA:99852 |
Jeavons Syndrome |
|
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... |
ORPHA:139431 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Tremor, Spasticity, Dystonia, Progressive sensorine... |
OMIM:304700 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, EEG abnormality, Jerky head mo... |
ORPHA:157941 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Inability to walk, Spastic diplegia, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Inability to walk |
OMIM:606053 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, EEG abnormality |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, EEG abnormality |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, EEG abnormality |
OMIM:300425 |
Autism |
|
Motor stereotypy, EEG abnormality |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, EEG abnormality |
OMIM:608636 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Head tremor, Spas... |
ORPHA:95433 |
Huntington Disease-Like 3 |
|
Broad-based gait, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormality of ext... |
ORPHA:157946 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Abnormal pinna morphology, Hyperactivity, Optic atrophy, Tremor, Spasticity |
OMIM:300983 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Ataxia, Abnormal cochlea morphology |
ORPHA:231183 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Falls, Chorea, Paroxysmal dyskinesia |
OMIM:619150 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Ataxia, Abnormal cochlea morphology |
ORPHA:231169 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Hyperactivity, EEG with focal epileptiform discharges, Chorea, EEG with general... |
ORPHA:88616 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Abnormal audito... |
OMIM:601455 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Ataxia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Paroxysmal dystonia |
OMIM:245348 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Gait disturbance, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progres... |
OMIM:125250 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dyst... |
OMIM:615924 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Hyperactivity, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity |
OMIM:239500 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia, Unsteady gait |
OMIM:614063 |
Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Acroparesthesia, Upper motor ... |
ORPHA:206443 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... |
OMIM:619092 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Absent brainstem auditory responses, Ataxia, Hypoplasia of the semicircular canal, S... |
OMIM:609136 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Inability to walk, EEG abnormality, Involuntary movements, Spasticity |
OMIM:617820 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Impotence, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor,... |
ORPHA:99027 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Stereotypical hand wringing, EEG abnormality, Dystonia, Chorea |
OMIM:618760 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Progressive ... |
ORPHA:247815 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, Hyperkinetic movements, Choreoathetosis, Involuntary m... |
OMIM:618218 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears |
OMIM:619717 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Inability to walk, EEG abnormality, Tremor, Spasticity, Low-set ears |
OMIM:618718 |
Optic Atrophy 11 |
|
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Hyperkinetic movements, Optic atrophy, Macroti... |
OMIM:617302 |
Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Motor stereotypy, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... |
OMIM:617695 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Spinocerebellar Ataxia Type 18 |
|
Dysmetria, Head tremor, Somatic sensory dysfunction, Titubation, Gait ataxia, Hearing impairment |
ORPHA:98771 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Spastic tetraparesis |
OMIM:619470 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Tongue fascic... |
OMIM:601596 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired proprioception, Absent brainstem auditory responses, Sensorineural hearing impairment, I... |
ORPHA:101085 |
Fragile X Syndrome |
|
Recurrent hand flapping, Hyperactivity, Abnormal head movements, Macrotia |
OMIM:300624 |
Adult Krabbe Disease |
|
Broad-based gait, Hemiplegia, Ataxia, Acroparesthesia, Clumsiness, EEG abnormality, Hoffmann sign... |
ORPHA:206448 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Hyperactivity, Dysmetria |
OMIM:618090 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Difficulty walking, Spasticity |
OMIM:617393 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Hypertonia, Inability to walk, Blepharospasm, Babinski sign,... |
OMIM:128100 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Dysmetria, Limb ataxia, Hand tremor, Intention tremor, Babinski sign, Head tremor, Trunca... |
ORPHA:276198 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Hypsarrhythmia |
OMIM:617113 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity |
DECIPHER:8 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia |
OMIM:612716 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity... |
OMIM:618917 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... |
ORPHA:225147 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Macrotia, Anteverte... |
ORPHA:544254 |
Juvenile Huntington Disease |
|
Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Myoclonus, Rigidity, Chorea, ... |
ORPHA:248111 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Hypsarrhythmia |
OMIM:616341 |
Abcd Syndrome |
|
Neonatal death, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impa... |
OMIM:600501 |
Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Hyperkinetic moveme... |
OMIM:619317 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Tip-toe gait, Opisthotonus, Gait disturbance, Frequent falls, Optic disc pallo... |
ORPHA:216866 |
Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... |
ORPHA:3095 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Sensorineural hearing impairment, Hyperactivity, Impaired vibratory sensation, Babinski sign, Spa... |
OMIM:609727 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk, Hypsarrhythmia, Macrotia, Hearing impairment |
OMIM:619877 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
EEG abnormality, Hyperactivity, Abnormality of extrapyramidal motor function, Limb hypertonia, Ab... |
ORPHA:500180 |
Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy, Morphological abn... |
ORPHA:87 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Difficulty walking, Gait ataxia, Spas... |
OMIM:617807 |
Branchiootorenal Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... |
OMIM:113650 |
Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy, EEG abnormality |
OMIM:300495 |
Cln5 Disease |
|
EEG with focal spikes, Ataxia, Poor gross motor coordination, Hyperactivity, Clumsiness, Dysmetri... |
ORPHA:228360 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Motor stereotypy, Speech apraxia, Unsteady gait, Low-set ears |
OMIM:618205 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Optic atrophy, Titubation, Impaire... |
ORPHA:98768 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Ataxia, Abnormal pinna morphology, Hyperactivity, Stereotypical hand wringing, ... |
OMIM:614104 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Anteverted ears, Hyperactivity, Macrotia |
OMIM:615541 |
Distal Monosomy 10Q |
|
Facial diplegia, Ataxia, Cochlear malformation, Protruding ear, Congenital sensorineural hearing ... |
ORPHA:96148 |
Xq28 (MECP2) duplication |
|
Motor stereotypy, Inability to walk, Progressive spasticity, Gait ataxia, Macrotia |
DECIPHER:45 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... |
ORPHA:280763 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Hyperactivity, Tremor, Attent... |
OMIM:618342 |
Foxg1 Syndrome |
|
Motor stereotypy, Inability to walk, Myoclonus, Hyperkinetic movements, Stereotypical hand wringi... |
ORPHA:561854 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Spasticity, Hypsarrhythmia |
ORPHA:500545 |
Christianson Syndrome |
|
Motor stereotypy, Truncal ataxia, Gait ataxia, Macrotia, Dystonia |
ORPHA:85278 |
New-Onset Refractory Status Epilepticus |
|
EEG with spike-wave complexes, EEG with generalized epileptiform discharges, EEG with frontal epi... |
ORPHA:363558 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Gait disturbance, Dystonia |
OMIM:600795 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Ogden Syndrome |
|
Torticollis, Hypertonia, Shuffling gait, Abnormal head movements, Macrotia, Low-set ears |
ORPHA:276432 |
Mannosidosis, Beta A, Lysosomal |
|
Hearing impairment, Hyperactivity |
OMIM:248510 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Prominent ear helix, Motor stereotypy, Inability to walk, Myoclonus, Hypsarrhythmi... |
ORPHA:411986 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia |
OMIM:615282 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Dysto... |
ORPHA:280219 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Spastic tetraplegia, Head titubation |
ORPHA:3240 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Gait disturbance, EEG with continuous slow activity, Fasciculations, Upper moto... |
ORPHA:275864 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Hyperactivity, Cerebral palsy, Attention deficit hyperactivity diso... |
ORPHA:352490 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Hyperactivity, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
EEG abnormality, Hyperactivity, Dysmetria, Babinski sign, Spasticity, Hypsarrhythmia, Clonus, Low... |
OMIM:617773 |
Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, Hyperactivity, Continuous spike and waves during slow sleep, EEG w... |
ORPHA:98818 |
Cdkl5-Deficiency Disorder |
|
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Multifocal epileptiform discha... |
ORPHA:505652 |
Smith-Magenis Syndrome |
|
Motor stereotypy, EEG abnormality, Hyperactivity, Hearing impairment, Morphological abnormality o... |
OMIM:182290 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Macrotia, Upper limb spasticity |
ORPHA:457240 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
X-Linked Adrenoleukodystrophy |
|
Paraparesis, Clumsiness, Hyperactivity, Impotence, Progressive hearing impairment, Hemiparesis, S... |
ORPHA:43 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Spastic ataxia |
OMIM:618906 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing, Hypsarrhythmia |
OMIM:616056 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
48,Xxyy Syndrome |
|
Motor stereotypy, Infertility, Ataxia, Hypergonadotropic hypogonadism, Chronic otitis media, Trem... |
ORPHA:10 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Tongue thrustin... |
OMIM:619580 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Ataxia, Conductive hearing impairment, Dilata... |
ORPHA:1435 |
Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Hyperactivity, Opisthotonus, EEG with polyspike wave complexes, Continuous spike and wave... |
OMIM:619913 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
EEG abnormality, Recurrent hand flapping, Macrotia |
OMIM:617268 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia, Spa... |
ORPHA:363400 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Low-set ears, Attention deficit hyperactivity disorder, Recurrent hand flapping |
OMIM:620021 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Recurrent hand flapping, Hyperactivity, Cerebral palsy, Myoclonus, Chorea, Atte... |
OMIM:617600 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Ataxia, Tetraparesis, Optic disc pallor, Abnormal auditory evok... |
OMIM:619260 |
Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Optic atrophy, Opt... |
ORPHA:320406 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity, Macrotia |
OMIM:618504 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... |
OMIM:201050 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Tremor, Low-set ears, Hearing impairment |
ORPHA:238750 |
Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Optic disc drusen, Eye poking |
OMIM:204000 |
Myoclonic-Astatic Epilepsy |
|
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, EEG with ir... |
ORPHA:1942 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder |
OMIM:613670 |
Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Hyperactivity, Hemidystonia, Continuous spike and waves during slow sleep,... |
ORPHA:1929 |
Gorham-Stout Disease |
|
Torticollis, Hearing impairment, Abnormality of the internal auditory canal |
ORPHA:73 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... |
ORPHA:206436 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Speech apraxia... |
ORPHA:261197 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy, Optic atrophy |
OMIM:619690 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, EEG with photoparoxysmal response, Ataxia, Cortical myoclonus, Hyperactivity, E... |
ORPHA:168491 |
Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity, Spasticity |
OMIM:610042 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, EEG abnormality, Hyperactivity, Hyperkinetic movements |
OMIM:271980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abnormal pinna morphology, Hyperactivity, Tremor, Gait ataxia, Hypogonadism |
OMIM:300354 |
Rett Syndrome, Congenital Variant |
|
Motor stereotypy, Protruding ear, EEG abnormality, Tongue thrusting, Chorea, Athetosis, Spasticit... |
OMIM:613454 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... |
ORPHA:107 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Pain insensitivity, Inability to walk, Rigidity, Chorea, Progressive sp... |
OMIM:300260 |
Gm2-Gangliosidosis, Ab Variant |
|
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spastic tet... |
OMIM:272750 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Clumsiness, Posteriorly rotated ears, Recurrent hand flapping |
OMIM:615032 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Poor fine motor coordination, Infantile sensorineural hearing impairment,... |
ORPHA:268943 |
Childhood Absence Epilepsy |
|
EEG with spike-wave complexes (2.5-3.5 Hz), Jerky head movements, Punding, Limb myoclonus |
ORPHA:64280 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sensorineural hearing impairment, Hypertonia, Ataxia, Hyperactivity, Spastic paraparesis, Cerebra... |
ORPHA:760 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Hearing impairment, Motor stereotypy |
OMIM:616351 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Ataxia, Continuous spike and waves during slow sleep, Head tremor, EEG with occ... |
OMIM:619428 |
Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Conductive hearing impairment, Low-set, posteriorly rotated ears, Attention def... |
OMIM:617808 |
Noonan Syndrome |
|
Thickened helices, Sensorineural hearing impairment, Aplasia of the semicircular canal, Low-set, ... |
ORPHA:648 |
Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Hyperactivity, Optic atrophy, Upper motor neuron dysfunction |
ORPHA:530983 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal pyramidal sign, Progressive spastic quadriplegia, Chorea, ... |
ORPHA:309246 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Inability to walk, Bilateral conductive hearing impairment, Low-set ears, Inter... |
OMIM:617802 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Dysmetria, Impaired vibratory sensation, Babinski sign, Abnormal pyramidal sign, Temporal optic d... |
ORPHA:459056 |
Rett Syndrome |
|
Motor stereotypy, Inability to walk, Bradykinesia, EEG abnormality, Abnormal autonomic nervous sy... |
ORPHA:778 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Motor stereotypy, EEG with focal spikes, Interictal epileptiform activity, Increased theta freque... |
ORPHA:98784 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Abnormal pyramidal sign, Optic atrophy, Hearing impairment, Tetraplegia |
ORPHA:369939 |
Tay-Sachs Disease |
|
Clumsiness, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Poor fine motor coordina... |
ORPHA:845 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Parkinsonism, Myo... |
ORPHA:79264 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Resting tremor, Parkinsonism, Tremor, Focal EEG discharges with secondary generali... |
ORPHA:3077 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... |
ORPHA:529808 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clumsiness, Hyperactivity, Abnormality of extrapyramidal motor function, Chorea, Frequent... |
OMIM:615673 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Ataxia, Hyperactivity, Dysmetria, Hoffmann sign, Ankle clonus, Hemiparesis, Limb myoclonus, Aprax... |
ORPHA:139396 |
Sandifer Syndrome |
|
Torticollis, Abnormal head movements, Abnormal posturing |
ORPHA:71272 |
Crouzon Syndrome |
|
Optic atrophy, Conductive hearing impairment, Hearing impairment, Narrow internal auditory canal |
ORPHA:207 |
Radio-Tartaglia Syndrome |
|
Large earlobe, Conductive hearing impairment, Ataxia, Motor stereotypy, Tremor, Hearing impairmen... |
OMIM:619312 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hearing impairment, Hyperactivity, Spasticity |
ORPHA:457260 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Babinski sign, Spasticity |
OMIM:612069 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Limb hypertonia, Bab... |
OMIM:608643 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
EEG with focal spikes, Hyperactivity, Progressive cerebellar ataxia, Myoclonus, Chorea, Upper lim... |
ORPHA:485350 |
Autism, Susceptibility To, 3 |
|
Motor stereotypy, EEG abnormality |
OMIM:608049 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Motor stereotypy, Gait ataxia, Impaired pain sensation, Incoordination, Low-set ears |
OMIM:616579 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Hyperactivity, Premature ovarian insufficiency, Macrotia |
ORPHA:391307 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Gait disturbance, Tremor, Difficulty walking, Optic ... |
ORPHA:90321 |
Potocki-Lupski Syndrome |
|
Motor stereotypy, Hearing impairment, EEG abnormality, Hyperactivity |
OMIM:610883 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Ataxia, EEG abnormality, Hyperactivity |
ORPHA:411515 |
Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Low-set ears, Recurrent otitis media, Hyperactivity, Macrotia, Hearing impairme... |
OMIM:618027 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormality of the ear, EEG abnormality, Oromotor apraxia, Hypoplastic helices, Attention deficit... |
ORPHA:391372 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Ataxia, EEG abnormality, Recurrent hand flapping, Hyperactivity, Myoclonus, Tongue thrusting, EEG... |
ORPHA:98794 |
X-Linked Creatine Transporter Deficiency |
|
Hypertonia, Ataxia, Hyperactivity, Aganglionic megacolon, Chorea, Athetosis, Dystonia |
ORPHA:52503 |
Hyperekplexia-Epilepsy Syndrome |
|
Hypertonia, Exaggerated startle response, EEG with temporal focal spikes |
ORPHA:163985 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Sensorineural hearing impairment, Motor stereotypy, Hyperactivity, Recurrent otitis media, Low-se... |
OMIM:617751 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Hyperactivity, Gait ataxia, Spasticity, Macrotia |
OMIM:300486 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination |
OMIM:617182 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Hypertonia, Motor stereotypy, Aganglionic megacolon, Underfolded superior helic... |
OMIM:300352 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hypertonia, Hyperactivity, Bradykinesia, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinsk... |
OMIM:610217 |
Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Motor stereotypy, Ataxia, EEG abnormality, Protruding ear |
ORPHA:2479 |
Cerebrotendinous Xanthomatosis |
|
Paraparesis, Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve conducti... |
ORPHA:909 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Facial diplegia, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hy... |
OMIM:619121 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Motor stereotypy, Pain insensitivity, Attention deficit hyperactivity disorder |
OMIM:618825 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Recurrent hand flapping, Hemidystonia, Tremor, Speech apraxia, Attention deficit hyp... |
OMIM:619680 |
Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Chorea, Athetosis, Macrotia |
OMIM:619435 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Pain insensitivity, Overfolded helix, Tremor, Attention deficit hyperactivity d... |
OMIM:617061 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Sensorineural hearing impairment, Motor stereotypy, Inability to walk, Spastic ataxi... |
ORPHA:300570 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... |
ORPHA:500159 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ataxia, EEG abnormality, Hyperactivity, Spastic paraparesis, Multifocal epileptiform discharges, ... |
ORPHA:369891 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy, Hyperactivity, Low-set, posteriorly rotated ears, Hypogonadism |
ORPHA:3306 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy |
OMIM:613886 |
D-Glyceric Aciduria |
|
Sensorineural hearing impairment, Opisthotonus, Optic nerve hypoplasia, Myoclonus, Tongue thrusti... |
OMIM:220120 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Hyperactivity, Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Pro... |
ORPHA:35069 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Protruding ear, Abnormal helix morphology, Optic nerve hypoplasia, Optic atrophy, Attention defic... |
ORPHA:401777 |
Sandhoff Disease |
|
Ataxia, Upper motor neuron dysfunction, Impotence, Exaggerated startle response, Orthostatic hypo... |
OMIM:268800 |
Kohlschutter-Tonz Syndrome-Like |
|
Motor stereotypy, Ataxia, Inability to walk, EEG abnormality, EEG with focal spike waves, Multifo... |
OMIM:619229 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with focal spikes, Ataxia, Hyperactivity, Cerebral palsy, Stereotypical hand wringing, EEG wi... |
ORPHA:163681 |
Rett Syndrome |
|
EEG abnormality, Gait apraxia, Truncal ataxia, Stereotypical hand wringing, Gait ataxia, Spastici... |
OMIM:312750 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, Motor stereotypy, Inability to walk, EEG abnormality, EEG with ... |
ORPHA:457351 |
2Q23.1 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Hyperactivity |
ORPHA:228402 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Opisthotonus, Myoclonus, Gait ataxia, Spasticity, Low-set ears |
OMIM:103050 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Ataxia, Hyperactivity, Microtia, Attached earlobe, Dystonia |
OMIM:616977 |
Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Recurrent hand flapping, Hypsarrhythmia |
OMIM:618916 |
Charge Syndrome |
|
Hypoplasia of the semicircular canal, Microtia, Overfolded helix, Facial palsy, External ear malf... |
ORPHA:138 |
3P25.3 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Motor stereotypy, Ataxia, Attention deficit hyperactivity disor... |
ORPHA:435638 |
Asparagine Synthetase Deficiency |
|
Hypsarrhythmia, Exaggerated startle response, Spastic tetraplegia, Macrotia |
OMIM:615574 |
Developmental And Epileptic Encephalopathy 68 |
|
Myoclonus, Exaggerated startle response, Spasticity, Clonus |
OMIM:618201 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... |
OMIM:301008 |
Cri-Du-Chat Syndrome |
|
Motor stereotypy, Hypertonia, Abnormal pinna morphology, Stenosis of the external auditory canal,... |
OMIM:123450 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Oculogyric crisis, Eyelid myoclonus, Chorea, Spasticity, Dystonia |
ORPHA:178469 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... |
OMIM:610706 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Action tremor, Optic atrophy, Repetitive compulsive behavior, Lower limb spasticity, Dyst... |
ORPHA:66634 |
Tick-Borne Encephalitis |
|
Abnormality of the vestibular nerve, Abnormal autonomic nervous system physiology, Facial palsy, ... |
ORPHA:297 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Motor stereotypy, EEG with generalized slow activity |
ORPHA:397612 |
Hydroxykynureninuria |
|
Motor stereotypy, Hypertonia, Congenital sensorineural hearing impairment |
ORPHA:79155 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Ankle clonus, Babinski sign, Spastic paraplegia, Optic atrophy, Opt... |
OMIM:609541 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Optic atrophy, Spasticity, Macrotia,... |
ORPHA:496641 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Motor stereotypy, Ataxia, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Ste... |
OMIM:300912 |
Chromosome 2Q37 Deletion Syndrome |
|
Sensorineural hearing impairment, Pain insensitivity, Hyperactivity |
OMIM:600430 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Ataxia, External ear malformation, Exaggerated startle response |
ORPHA:438216 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Attention defi... |
OMIM:301013 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Abnormal cranial nerve morphology, Synotia, Low-set, posteriorly rotated ears, Narrow internal au... |
ORPHA:990 |
13Q12.3 Microdeletion Syndrome |
|
Hearing impairment, Impaired pain sensation, Hyperactivity, Chronic otitis media |
ORPHA:412035 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Ataxia, Hyperactivity, Poor coordination, Spasticity, Low-set ears, Posteriorly rotated ears |
OMIM:618430 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Motor stereotypy |
OMIM:301029 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hyperactivity, Pre... |
ORPHA:73272 |
Alazami Syndrome |
|
Motor stereotypy, Low-set ears, Stereotypical hand wringing |
ORPHA:319671 |
Vici Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Abnormal posturing |
OMIM:242840 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hearing impairment, Hyperactivity, Spasticity |
OMIM:300958 |
22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Hearing impairment, Attention deficit hyperactivity disorder, Anterior creases ... |
ORPHA:1727 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Recurrent hand flapping, Spasticity |
OMIM:618859 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Eye poking |
OMIM:204100 |
Gomez-Lopez-Hernandez Syndrome |
|
Hypertonia, Ataxia, Hyperactivity, Low-set ears, Posteriorly rotated ears |
OMIM:601853 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus, EEG with multifocal slow activity, Stereotypical hand wringing |
ORPHA:289266 |
Hyperlysinemia |
|
Clumsiness, Hyperactivity, EEG with spike-wave complexes, Opisthotonus, Dysmetria, Spastic dipleg... |
ORPHA:2203 |
16P11.2P12.2 Microdeletion Syndrome |
|
Abnormal pinna morphology, Hyperactivity, Chronic otitis media, Hearing impairment, Tics, Impaire... |
ORPHA:261211 |
Brain-Lung-Thyroid Syndrome |
|
Sensorineural hearing impairment, Ataxia, Clumsiness, Hyperactivity, Intention tremor, Myoclonus,... |
ORPHA:209905 |
Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Broad-based gait, Ataxia, EEG abnormality, Recurrent hand flapping, Tongue thrusting |
ORPHA:411511 |
Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Oculogyric crisis, Eyelid myoclonus, Spasticity, Spastic tetraplegia, Paroxysma... |
ORPHA:208447 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Conductive hearing impairment, EEG abnormality, Chronic otitis media, Attention... |
ORPHA:819 |
Developmental And Epileptic Encephalopathy 8 |
|
Hypertonia, Exaggerated startle response |
OMIM:300607 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, EEG with spike-wave complexes, EEG with series of foca... |
ORPHA:522077 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, B... |
ORPHA:794 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Sensorineural hearing impairment, Motor stereotypy, Hyperactivity, Asymmetry of the ears, Low-set... |
OMIM:617796 |
Pick Disease Of Brain |
|
Motor stereotypy |
OMIM:172700 |
Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy, Low-set ears |
OMIM:613174 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, Broad-based gait, EEG abnormality, EEG with focal epileptiform discharges, Tongue... |
ORPHA:98795 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Motor stereotypy, Protruding ear, Macrotia, Tongue thrusting, Impaired pain sen... |
OMIM:606232 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Motor stereotypy, Hypertonia, Cupped ear, Cerebral palsy |
OMIM:618914 |
Transketolase Deficiency |
|
Motor stereotypy, Hearing impairment, Secondary amenorrhea, Attention deficit hyperactivity disorder |
ORPHA:488618 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Protruding ear, Motor stereotypy |
ORPHA:261144 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Recurrent otitis media |
OMIM:301076 |
Hyperekplexia 3 |
|
Hypertonia, Exaggerated startle response |
OMIM:614618 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing |
OMIM:614857 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Motor stereotypy, Hypertonia, Ataxia, Recurrent hand flapping, Attention deficit hyperactivity di... |
OMIM:300986 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Unsteady gait |
OMIM:615516 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Attention deficit hyperactivity disorder, Tics, Recurrent hand flapping, Recurrent otitis media |
OMIM:617788 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy, Tetraparesis |
ORPHA:85277 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hypertonia, Exaggerated startle response, Optic atrophy, Clonus, Low-set ears |
OMIM:617301 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Blepharospasm, Hyperactivity, Bradykinesia, Abnormality of extrapyramidal motor function,... |
OMIM:234200 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Attention defic... |
ORPHA:449291 |
Plaa-Associated Neurodevelopmental Disorder |
|
Sensorineural hearing impairment, Exaggerated startle response, Abnormality of extrapyramidal mot... |
ORPHA:521426 |
Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Paralysis |
ORPHA:18 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Sensorineural hearing impairment, Hypertonia, Motor stereotypy, Unsteady gait, Macrotia, Posterio... |
OMIM:212066 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
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Motor stereotypy, Paraplegia, Ataxia |
ORPHA:927 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
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Hyperactivity, Recurrent hand flapping |
OMIM:613192 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
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Attention deficit hyperactivity disorder, Low-set ears, Motor stereotypy, Posteriorly rotated ears |
OMIM:619293 |
Cockayne Syndrome A |
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Sensorineural hearing impairment, Ataxia, Abnormal pinna morphology, Decreased nerve conduction v... |
OMIM:216400 |
Hyperekplexia 1 |
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Frequent falls, Hypertonia, Myoclonus, Exaggerated startle response |
OMIM:149400 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Motor stereotypy, Low-set ears, Ataxia, Unsteady gait |
ORPHA:457279 |
Angelman Syndrome |
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Ataxia, EEG abnormality, Recurrent hand flapping, Hyperactivity, Delayed menarche, Myoclonus, Ton... |
ORPHA:72 |
Angelman Syndrome |
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EEG abnormality, Clumsiness, Hyperactivity, Progressive gait ataxia, Limb tremor |
OMIM:105830 |
Hyperekplexia 2 |
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Hypertonia, Myoclonus, Exaggerated startle response |
OMIM:614619 |
5Q14.3 Microdeletion Syndrome |
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Motor stereotypy, Optic nerve hypoplasia |
ORPHA:228384 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
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Motor stereotypy |
OMIM:615637 |
White-Sutton Syndrome |
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Sensorineural hearing impairment, Motor stereotypy, Optic nerve hypoplasia, Tics, Waddling gait, ... |
OMIM:616364 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Motor stereotypy, Hypertonia, Babinski sign, Prominent antihelix, Spasticity, Macrotia |
OMIM:615802 |
Distal Xq28 Microduplication Syndrome |
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Stereotypical body rocking, Absent antihelix, Tip-toe gait, Microtia |
ORPHA:293939 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Low-set ears, EEG with spike-wave complexes, Jerky head movements, EEG with generalized sharp slo... |
ORPHA:369837 |
Kleefstra Syndrome 1 |
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Motor stereotypy, Hearing impairment, Abnormal pinna morphology |
OMIM:610253 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Broad-based gait, Motor stereotypy, Ataxia, Pain insensitivity, Dysmetria, Overfolded helix, Trun... |
OMIM:617330 |
Trisomy 10P |
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EEG with focal spikes, Abnormality of the ear, EEG with burst suppression, Low voltage EEG, Abnor... |
ORPHA:171929 |
Helsmoortel-Van Der Aa Syndrome |
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Motor stereotypy, Hyperactivity, Low-set, posteriorly rotated ears |
OMIM:615873 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Motor stereotypy, Optic atrophy, Attention deficit hyperactivity disorder |
ORPHA:313892 |
Developmental And Epileptic Encephalopathy 2 |
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Motor stereotypy, Inability to walk, Myoclonus, Hypsarrhythmia, EEG with generalized slow activity |
OMIM:300672 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Hypertonia, Exaggerated startle response, Babinski sign, Abnormal pyramidal sign, Rigidity, Optic... |
OMIM:617527 |
Cockayne Syndrome B |
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Sensorineural hearing impairment, Ataxia, Abnormal pinna morphology, Decreased nerve conduction v... |
OMIM:133540 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
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Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617044 |
X-Linked Intellectual Disability, Cabezas Type |
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EEG abnormality, Hyperactivity, Tremor, Hypogonadism, Abnormal earlobe morphology |
ORPHA:85293 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Motor stereotypy, Low-set ears, Ataxia |
OMIM:616393 |
Gm1 Gangliosidosis Type 1 |
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Low-set ears, Exaggerated startle response, Decerebrate rigidity, Spasticity, Macrotia, Hearing i... |
ORPHA:79255 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, Spasticity |
OMIM:618367 |
Pitt-Hopkins Syndrome |
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Motor stereotypy, Cupped ear, Gait ataxia, Incoordination, Thickened helices |
OMIM:610954 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
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Low-set ears, Abnormal pinna morphology, Stereotypical hand wringing |
OMIM:612337 |
Joubert Syndrome 6 |
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Motor stereotypy, Oculomotor apraxia, Ataxia |
OMIM:610688 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Motor stereotypy, Tremor, Gait ataxia, Attention deficit hyperactivity disorder |
ORPHA:476126 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Motor stereotypy, Hypertonia, Protruding ear, Hyperactivity, Myoclonic spasms, Hypsarrhythmia, Cl... |
ORPHA:447997 |
Rauch-Steindl Syndrome |
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Motor stereotypy, Protruding ear, Hyperactivity, Attached earlobe, Prominent crus of helix |
OMIM:619695 |
Mogs-Cdg |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, Optic atrophy |
ORPHA:79330 |
Charge Syndrome |
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Sensorineural hearing impairment, Low-set ears, Aplasia of the semicircular canal, Microtia, Cupp... |
OMIM:214800 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus, Rigidity, Myoclonic spasms, Frequent falls |
OMIM:184850 |
Isotretinoin-Like Syndrome |
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Microtia, Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external auditory canal, Bi... |
ORPHA:2306 |
Nmda Receptor Encephalitis |
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Motor stereotypy, Opisthotonus, Abnormal autonomic nervous system physiology, Orthostatic hypoten... |
ORPHA:217253 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Isometric tremor, Ataxia, Otitis media, Falls, Tics, Spasticity, Hypsarrhythmia, Broad-based gait... |
OMIM:619475 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Motor stereotypy, Ataxia, Protruding ear, Hyperactivity, Poor gross motor coordination, Hand trem... |
OMIM:614756 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Motor stereotypy, Low-set ears, Attention deficit hyperactivity disorder |
OMIM:619103 |
47,Xyy Syndrome |
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Hyperactivity, Oligospermia, Male infertility, Attention deficit hyperactivity disorder, Azoosper... |
ORPHA:8 |
Galloway-Mowat Syndrome 6 |
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Motor stereotypy |
OMIM:618347 |
White-Sutton Syndrome |
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Sensorineural hearing impairment, Motor stereotypy, EEG abnormality, Hyperactivity, Incoordinatio... |
ORPHA:468678 |
2Q37 Microdeletion Syndrome |
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Motor stereotypy, Conductive hearing impairment, Attention deficit hyperactivity disorder |
ORPHA:1001 |
Niemann-Pick Disease, Type C2 |
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Motor stereotypy, Ataxia, Cataplexy, Spasticity, Dystonia |
OMIM:607625 |
Cardiospondylocarpofacial Syndrome |
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Conductive hearing impairment, Congenital sensorineural hearing impairment, Enlarged vestibular a... |
OMIM:157800 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
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Hypertonia, Stereotypical hand wringing |
OMIM:619854 |
7Q11.23 Microduplication Syndrome |
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Large earlobe, Motor stereotypy, Hyperactivity, Dysmetria, Overfolded helix, Chronic otitis media... |
ORPHA:96121 |
Tay-Sachs Disease |
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Hypertonia, Exaggerated startle response |
OMIM:272800 |
Bainbridge-Ropers Syndrome |
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Motor stereotypy, Hypertonia, Inability to walk, Recurrent hand flapping, Low-set ears, Posterior... |
OMIM:615485 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
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Ataxia, Protruding ear, Recurrent hand flapping, Microtia, Cupped ear, Low-set ears |
OMIM:156200 |
Early Infantile Epileptic Encephalopathy |
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EEG abnormality, Hyperactivity, EEG with spike-wave complexes, Myoclonus, EEG with burst suppress... |
ORPHA:1934 |
Stiff Person Spectrum Disorder |
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Rigidity, Exaggerated startle response |
ORPHA:3198 |
Leber Congenital Amaurosis 9 |
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Optic atrophy, Optic disc pallor, Eye poking |
OMIM:608553 |
Choreoacanthocytosis |
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Laryngeal dystonia, Chorea, Limb dystonia, Slurred speech, Hypertonia, Hyperactivity, Resting tre... |
ORPHA:2388 |
Legius Syndrome |
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Hyperactivity, Vestibular schwannoma, Attention deficit hyperactivity disorder, Hearing impairmen... |
ORPHA:137605 |
Cystinosis |
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Gait disturbance, Abnormal pyramidal sign, Motor stereotypy |
ORPHA:213 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Sensorineural hearing impairment, Motor stereotypy, Microtia, Spasticity, Low-set ears, Posterior... |
OMIM:301040 |
Childhood Disintegrative Disorder |
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Motor stereotypy |
ORPHA:168782 |
Leber Congenital Amaurosis 8 |
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Eye poking |
OMIM:613835 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Motor stereotypy, Speech apraxia |
ORPHA:529965 |
Microphthalmia-Brain Atrophy Syndrome |
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Spasticity, Tongue thrusting |
ORPHA:77299 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Broad-based gait, Motor stereotypy, Stereotypical body rocking, Abnormal Eustachian tube morpholo... |
ORPHA:513456 |
Mend Syndrome |
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Low-set ears, Hyperactivity, Abnormal auditory evoked potentials, Limb hypertonia |
ORPHA:401973 |
Kleefstra Syndrome |
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Thickened helices, Hearing impairment, Motor stereotypy, Chronic otitis media |
ORPHA:261494 |
Joubert Syndrome 1 |
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Ataxia, Hyperactivity, Optic disc coloboma, Hemifacial spasm, Optic disc pallor, Oculomotor aprax... |
OMIM:213300 |
Dpagt1-Cdg |
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Hypertonia, Ataxia, Inability to walk, Akinesia, Diffuse optic disc pallor, Stereotypical body ro... |
ORPHA:86309 |
Developmental And Epileptic Encephalopathy 100 |
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Motor stereotypy, EEG with photoparoxysmal response, Myoclonus, Chorea, Choreoathetosis, Gait ataxia |
OMIM:619777 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Motor stereotypy, Hypertonia, Thin ear helix, Optic nerve hypoplasia, Abnormal pyramidal sign, Hy... |
ORPHA:468631 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Sensorineural hearing impairment, Motor stereotypy, Attention deficit hyperactivity disorder, Rec... |
OMIM:619575 |
21Q22.11Q22.12 Microdeletion Syndrome |
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Hyperactivity, Stereotypical body rocking, Microtia, Tongue thrusting, Recurrent otitis media, Lo... |
ORPHA:261323 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Motor stereotypy, Impaired pain sensation, EEG abnormality, Attention deficit hyperactivity disorder |
OMIM:619005 |
Mgat2-Cdg |
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Stereotypical hand wringing, Low-set, posteriorly rotated ears, Prominent antihelix, Hypsarrhythm... |
ORPHA:79329 |
Van Esch-O'Driscoll Syndrome |
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Motor stereotypy, Protruding ear, Microtia, Unilateral vocal cord paralysis, Hypogonadotropic hyp... |
OMIM:301030 |
Cardiofaciocutaneous Syndrome 1 |
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Large earlobe, Low-set ears, Hypertonia, Tongue thrusting, Optic nerve dysplasia, Anterior crease... |
OMIM:115150 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
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Broad-based gait, Hemiparesis, Tongue thrusting, Underdeveloped superior crus of antihelix, Heari... |
ORPHA:369950 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
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Thickened helices, Ataxia, Spastic diplegia, Limb hypertonia, Cerebral palsy, Stereotypical hand ... |
OMIM:619950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Motor stereotypy, EEG with parietal focal spikes, EEG with occipital focal spikes, Recurrent otit... |
OMIM:301066 |
Norrie Disease |
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Sensorineural hearing impairment, Hypertonia, Protruding ear, Motor stereotypy, Abnormal helix mo... |
ORPHA:649 |
Bainbridge-Ropers Syndrome |
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Hypertonia, Inability to walk, Recurrent hand flapping |
ORPHA:352577 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Sensorineural hearing impairment, Motor stereotypy, Hyperactivity, Optic atrophy, Macrotia, Low-s... |
OMIM:619512 |
Arboleda-Tham Syndrome |
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Prominent antitragus, Gait imbalance, Motor stereotypy, Lower limb hypertonia, Chronic otitis med... |
OMIM:616268 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Motor stereotypy, Low-set ears, Protruding ear, Hyperactivity, Poor coordination, Spastic diplegi... |
OMIM:309590 |
Schinzel-Giedion Syndrome |
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Large earlobe, Hypertonia, Abnormal helix morphology, Infantile sensorineural hearing impairment,... |
ORPHA:798 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Overfolded helix, Low-set ears, Difficulty walking, Motor stereotypy |
OMIM:618653 |
Mucopolysaccharidosis Type 2 |
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Sensorineural hearing impairment, Otosclerosis, Motor stereotypy, Conductive hearing impairment, ... |
ORPHA:580 |
Kinsship Syndrome |
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Spastic tetraparesis, Low-set ears, Motor stereotypy, Myoclonus |
OMIM:619297 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Gait disturbance, Optic disc pallor, Protruding ear, Motor stereotypy |
ORPHA:464311 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Motor stereotypy, Protruding ear, Gait disturbance, Optic disc pallor, Macrotia |
ORPHA:464306 |
Wiedemann-Steiner Syndrome |
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Motor stereotypy, Low-set ears, Hyperactivity |
ORPHA:319182 |
Microcephaly 29, Primary, Autosomal Recessive |
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Ataxia, Hyperactivity |
OMIM:620047 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Apraxia, Parkinsonism, Repetitive compulsive behavior |
OMIM:607485 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Motor stereotypy, Hypertonia, EEG abnormality, Overfolded helix, Hypsarrhythmia, Spastic tetrapar... |
OMIM:301044 |
Pyruvate Carboxylase Deficiency |
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Ataxia, Recurrent hand flapping, Tip-toe gait, Abnormal pyramidal sign, Tremor, Dystonia |
ORPHA:3008 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Motor stereotypy, Chordee, Exaggerated startle response, Microtia, Small earlobe, Attention defic... |
OMIM:619522 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Optic atrophy, Exaggerated startle response |
OMIM:253800 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Motor stereotypy, Hypertonia, Inability to walk, Opisthotonus |
ORPHA:508533 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Hand tremor |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Hand tremor |
ORPHA:424 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Motor stereotypy, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Hearing i... |
ORPHA:508498 |
1P36 Deletion Syndrome |
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Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, EEG abnormalit... |
ORPHA:1606 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Broad-based gait, Hypertonia, Ataxia, Protruding ear, Stereotypical hand wringing, Gait disturban... |
ORPHA:268261 |
Coffin-Siris Syndrome 12 |
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Large earlobe, Sensorineural hearing impairment, Protruding ear, Motor stereotypy, Facial palsy, ... |
OMIM:619325 |
Microcephaly 26, Primary, Autosomal Dominant |
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Spastic tetraparesis, Stereotypical hand wringing |
OMIM:619179 |
Primrose Syndrome |
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Motor stereotypy, Ataxia, Calcification of the auricular cartilage, Hypergonadotropic hypogonadis... |
OMIM:259050 |
Ogden Syndrome |
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Torticollis, Hypertonia, Protruding ear, Motor stereotypy, Macrotia, Recurrent otitis media, Low-... |
OMIM:300855 |
Oculocerebrorenal Syndrome Of Lowe |
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Motor stereotypy, Protruding ear, EEG abnormality, Chronic otitis media, Low-set, posteriorly rot... |
ORPHA:534 |
Prader-Willi Syndrome Due To Translocation |
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Motor stereotypy, Hypogonadotropic hypogonadism, Attention deficit hyperactivity disorder |
ORPHA:177907 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Motor stereotypy, Unsteady gait |
OMIM:616682 |
Wolf-Hirschhorn Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Motor... |
OMIM:194190 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, EEG abnormalit... |
ORPHA:353281 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Myoclonus, Stereotypical hand wringing, Optic disc pallor, Involunt... |
ORPHA:438213 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, EEG abnormalit... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, EEG abnormalit... |
ORPHA:353277 |
Mowat-Wilson Syndrome |
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Sensorineural hearing impairment, Uplifted earlobe, Ataxia, Conductive hearing impairment, Broad-... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Sensorineural hearing impairment, Uplifted earlobe, Broad-based gait, Inability to walk, Motor st... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Sensorineural hearing impairment, Uplifted earlobe, Broad-based gait, Inability to walk, Motor st... |
ORPHA:261552 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Broad-based gait, EEG abnormality, Tip-toe gait, Stereotypical body rocking, Macrotia, Chronic ot... |
OMIM:619503 |
Tuberous Sclerosis Complex |
|
Attention deficit hyperactivity disorder, Hyperactivity, Repetitive compulsive behavior |
ORPHA:805 |
Lowe Oculocerebrorenal Syndrome |
|
Motor stereotypy |
OMIM:309000 |