Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Positive Romberg sign, Abnormal vestibular function,... |
OMIM:616515 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Abnormal auditory evoked potentials, Sensorineural hearing impair... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
Primary Dystonia, Dyt13 Type |
|
Torsion dystonia, Limb dystonia, Torticollis, Jerky head movements, Postural tremor, Generalized ... |
ORPHA:98807 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo, Torticollis, Ataxia |
ORPHA:71518 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Ataxia, Hearing impairment |
OMIM:271250 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea |
OMIM:616939 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia |
ORPHA:3233 |
Autism, Susceptibility To, X-Linked 3 |
|
Abnormal repetitive mannerisms, EEG abnormality |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Abnormal repetitive mannerisms, EEG abnormality |
OMIM:300425 |
Deafness, Autosomal Dominant 80 |
|
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... |
OMIM:619274 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Distal sensory impairment, Tinnitus, Unsteady gait, Abnormal middle ear reflexes, Hearing impairm... |
OMIM:300614 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Limb ataxia, Jerky head movements, Difficulty walking, Impaired proprioception, Impaired vibratio... |
ORPHA:251282 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Ataxia, Difficulty walking, Abnormal motor evoked potentials, Abnorm... |
ORPHA:320401 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Abnormal repetitive mannerisms, EEG abnormality, Unsteady gait, Truncal ataxia |
OMIM:608636 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Dis... |
OMIM:601382 |
Dystonia 31 |
|
Leg dystonia, Difficulty walking, Generalized dystonia, Writer's cramp, Abnormal posturing, Arm d... |
OMIM:619565 |
Autism, Susceptibility To, 8 |
|
Abnormal repetitive mannerisms, EEG abnormality |
OMIM:607373 |
Autism |
|
Abnormal repetitive mannerisms, EEG abnormality |
OMIM:209850 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Abnormal head movements, Athetosis, Chorea, Dystonia |
ORPHA:382 |
Pendred Syndrome |
|
Enlarged vestibular aqueduct, Abnormality of the inner ear, Ataxia, Vertigo, Hypoplasia of the co... |
ORPHA:705 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo, Ataxia |
ORPHA:79136 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment |
OMIM:618915 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms, Inability to walk |
OMIM:606053 |
Deafness, Autosomal Recessive 18B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614945 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Inability to walk, Absent brainstem auditory responses, Generalized dystonia, Focal dys... |
ORPHA:52368 |
Jeavons Syndrome |
|
EEG with photoparoxysmal response, Interictal epileptiform activity, EEG with spike-wave complexe... |
ORPHA:139431 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Progressive sensorineural hearing impairment, Abnormal posturing, Postlingual sensorineur... |
OMIM:304700 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia |
ORPHA:231183 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia, Inability to walk, Optic atrophy |
OMIM:617830 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, EEG abnormality, Dysphagia, Facial palsy, Sensorineural hear... |
OMIM:617519 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia |
ORPHA:231169 |
Deafness, Autosomal Dominant 9 |
|
Tinnitus, Vertigo, Abnormality of the vestibulocochlear nerve, Cochlear degeneration, Postlingual... |
OMIM:601369 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Hand tremor, Gait ataxia, Abnormal repetitive mannerisms, Recurrent hand flapping, Broad-based gait |
OMIM:617862 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Ataxia |
OMIM:618709 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Abnormal pinna morphology, Tremor, Optic atrophy |
OMIM:300983 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Distal sensory impairment, Gait disturbance, Unsteady gait, Impaired distal vibration sensation, ... |
OMIM:601455 |
Fraxe Intellectual Disability |
|
Hyperactivity, Agitation, Prominent ear helix, Recurrent hand flapping, Stereotypical body rockin... |
ORPHA:100973 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Bruxism, EEG abnormality, Chorea, Abnormal repetitive mannerisms, Dystonia |
OMIM:619150 |
N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Unsteady gait, Truncal ataxia, Broad-based gait |
OMIM:614063 |
Asperger syndrome susceptibility, X-linked 2 |
|
Abnormal repetitive mannerisms |
OMIM:300497 |
Asperger Syndrome, Susceptibility To, 1 |
|
Abnormal repetitive mannerisms |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Abnormal repetitive mannerisms |
OMIM:608631 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Low-set ears, Hyperactivity |
ORPHA:436151 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, EEG abnormality, Hyperactivity, Ataxia |
OMIM:239500 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Sensorineural hea... |
OMIM:616648 |
Chromosome 3Q29 Deletion Syndrome |
|
Low-set ears, Hyperactivity, Posteriorly rotated ears, Gait ataxia, Macrotia, Abnormal repetitive... |
OMIM:609425 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Difficulty walking, Impaired vibration sensation in the lower limb... |
ORPHA:95433 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Abnormal repetitive mannerisms, Pica, Choreoathetosis |
OMIM:617270 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms |
OMIM:617787 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing ... |
OMIM:125250 |
Chromosome Xq21 Deletion Syndrome |
|
Progressive sensorineural hearing impairment, Conductive hearing impairment, Incomplete partition... |
OMIM:303110 |
Deafness, X-Linked 2 |
|
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... |
OMIM:304400 |
Fragile X Syndrome |
|
Abnormal head movements, Recurrent hand flapping, Hyperactivity, Macrotia |
OMIM:300624 |
Huntington Disease-Like 1 |
|
Jerky head movements, Gait disturbance, EEG abnormality, Abnormal head movements, Chorea, Gait at... |
ORPHA:157941 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Low-set ears, Inability to walk, Bruxism, EEG abnormality, Tremor, Abnormal repetitive mannerisms |
OMIM:618718 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Dystonia, Jerky head movements, Ataxia, Generalized dystonia, Choreoathetosis, Paroxysmal dystonia |
OMIM:245348 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Distal sensory impairment, Hypoplasia of the semicircular canal, Short-segment aganglionic megaco... |
OMIM:609136 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Abnormal repetitive mannerisms, Hyperactivity |
OMIM:300271 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Low-set ears, Ataxia, Tremor, Large fleshy ears, Gait ataxia, Abnormal repetitive mannerisms, Ove... |
OMIM:619092 |
Waardenburg Syndrome, Type 2E |
|
Hypoplasia of the semicircular canal, Dilated vestibule of the inner ear, Sensorineural hearing i... |
OMIM:611584 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Jerky head movements, Somatic sensory dysfunction, Focal dystonia, Tremor, Dysphagia |
ORPHA:240103 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, EEG abnormality |
OMIM:617171 |
Spinocerebellar Ataxia Type 18 |
|
Somatic sensory dysfunction, Titubation, Hearing impairment, Head tremor, Gait ataxia, Dysmetria |
ORPHA:98771 |
Deafness-Hypogonadism Syndrome |
|
Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid... |
ORPHA:90646 |
Autism, Susceptibility To, X-Linked 2 |
|
Abnormal repetitive mannerisms, EEG abnormality |
OMIM:300495 |
Developmental And Epileptic Encephalopathy 43 |
|
Hypsarrhythmia, Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:617113 |
Huntington Disease-Like 3 |
|
Dystonia, Abnormal head movements, Progressive gait ataxia, Chorea, Broad-based gait |
ORPHA:157946 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Optic atrophy, Broad-based gait, Tremor |
OMIM:619470 |
Branchiootic Syndrome 1 |
|
Low-set ears, Cochlear malformation, Mixed hearing impairment, Cupped ear, Sensorineural hearing ... |
OMIM:602588 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Abnormal repetitive mannerisms, EEG abnormality, Inability to walk |
OMIM:617820 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired pain sensation, Paresthesia, Limb ataxia, Somatic sensory dysfunction, Inability to walk... |
ORPHA:101085 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Distal sensory impairment, Abnormal cranial nerve morphology, Difficulty walking, Decreased motor... |
OMIM:601596 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Dysdiadochokinesis, Abnormal auditory evoked potentials, Abnormality ... |
ORPHA:99027 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Limb ataxia, Progressive cerebellar ataxia, Abnormal head movements, Progressive gait ataxia, Tru... |
ORPHA:247815 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Abnormal repetitiv... |
OMIM:618917 |
Baker-Gordon Syndrome |
|
Ataxia, EEG abnormality, Abnormal repetitive mannerisms, Choreoathetosis, Dystonia |
OMIM:618218 |
Smith-Magenis syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity |
DECIPHER:8 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Dystonia, Hyperactivity, Ataxia |
OMIM:615924 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:616341 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Agitation, Recurrent hand flapping, Stereotypical body rocking, Compulsive behavio... |
OMIM:309548 |
Apert Syndrome |
|
Morphological abnormality of the semicircular canal, Optic atrophy, Conductive hearing impairment... |
ORPHA:87 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Ataxia, Attention deficit hyperactivity disorder,... |
ORPHA:206443 |
Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibular a... |
OMIM:113650 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... |
ORPHA:1215 |
Hartnup Disorder |
|
Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
Pontocerebellar Hypoplasia, Type 11 |
|
Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Macrotia, Abnormal repetitive manneri... |
OMIM:617695 |
New-Onset Refractory Status Epilepticus |
|
EEG with generalized epileptiform discharges, EEG with frontal epileptiform discharges, EEG with ... |
ORPHA:363558 |
Abcd Syndrome |
|
Aganglionic megacolon, Hearing impairment, Total intestinal aganglionosis, Neonatal death, Abnorm... |
OMIM:600501 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Inability to walk, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Faci... |
OMIM:128100 |
Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Facial diplegia, Attention de... |
OMIM:617302 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Low-set ears, Hyperactivity, Protruding ear, Bruxism, Attention deficit hyperactivity disorder, T... |
OMIM:618342 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Exaggerated startle response, Ataxia |
OMIM:616881 |
Christianson Syndrome |
|
Dysphagia, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Truncal ataxia, Dystonia |
ORPHA:85278 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, EEG with spike-wave complexes (>3.5 Hz), Chorea, Multifocal epileptiform discharges, Abno... |
OMIM:619317 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Hypsarrhythmia, Inability to walk, Hearing impairment, Macrotia, Abnormal repetitive mannerisms |
OMIM:619877 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Hearing impairment |
OMIM:248510 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Abnormal repetitive mannerisms, Anteverted ears, Hyperactivity, Macrotia |
OMIM:615541 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Abnormal pinna morphology, Macrotia, Stereotypical hand wringing, Abnormal... |
OMIM:614104 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Gait disturbance, Tip-toe gait, Optic disc pallor, Generalized dystonia, Opist... |
ORPHA:216866 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Hyperactivity, EEG abnormality, Chorea, Dysphagia, Gait ataxia, Dystonia... |
ORPHA:500180 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Gait ataxia, Hyperactivity, Dysmetria |
OMIM:618090 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Xq28 (MECP2) duplication |
|
Abnormal repetitive mannerisms, Gait ataxia, Inability to walk, Macrotia |
DECIPHER:45 |
Smith-Magenis Syndrome |
|
Impaired pain sensation, Head-banging, Hyperactivity, EEG abnormality, Hearing impairment, Abnorm... |
OMIM:182290 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Ataxia, Attention deficit hyperactivity disorder, Motor tics, Chorea, Intention tremor, Resting t... |
OMIM:619725 |
Cln5 Disease |
|
Obsessive-compulsive trait, EEG with spike-wave complexes, Hyperactivity, Ataxia, EEG with focal ... |
ORPHA:228360 |
Ogden Syndrome |
|
Low-set ears, Torticollis, Abnormal head movements, Macrotia, Shuffling gait |
ORPHA:276432 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Prominent antihelix, Dystonia, Difficulty walking, Gait ataxia, Abnormal repetitive mannerisms, O... |
OMIM:617807 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:619553 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Posteriorly rotated ears, Exaggerated startle response, Low-set ears, Ataxia |
OMIM:618598 |
Distal Deletion 10Q |
|
Low-set ears, Unsteady gait, Protruding ear, Cochlear malformation, Ataxia, Facial diplegia, Abno... |
ORPHA:96148 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Foxg1 Syndrome |
|
Inability to walk, Difficulty walking, Bruxism, Stereotypical hand wringing, Abnormal repetitive ... |
ORPHA:561854 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypsarrhythmia, Inability to walk, Prominent ear helix, Multifocal epileptiform discharges, Large... |
ORPHA:411986 |
Juvenile Huntington Disease |
|
Progressive cerebellar ataxia, Ataxia, Hyperactivity, Chorea, Gait ataxia, Dystonia |
ORPHA:248111 |
Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Bruxism, Paroxysmal dystonia, Chorea, Macrotia, Abnormal repetitive mannerisms... |
OMIM:618004 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait disturbance, Titubation, Chorea, Gait ataxia, Abnormal posturing, Resting tremor, Dystonia |
ORPHA:225147 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Spastic ataxia |
OMIM:618906 |
Spinocerebellar Ataxia Type 13 |
|
Limb ataxia, Torticollis, Difficulty walking, Impaired distal vibration sensation, Optic disc pal... |
ORPHA:98768 |
Landau-Kleffner Syndrome |
|
EEG with generalized epileptiform discharges, Hyperactivity, EEG with temporal focal spikes, Atte... |
ORPHA:98818 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Low-set ears, Hyperactivity, Attention deficit hyperactivity disorder, Repetitive compulsive beha... |
ORPHA:352490 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Attention deficit hyperactivity disorder, Hearing impairment, Gait ataxia, Opisthotonus, ... |
OMIM:619580 |
Adult Krabbe Disease |
|
Somatic sensory dysfunction, Gait disturbance, Ataxia, Broad-based gait, EEG abnormality, Acropar... |
ORPHA:206448 |
Lopes-Maciel-Rodan Syndrome |
|
Agitation, Bruxism, Tremor, Dysphagia, Abnormal repetitive mannerisms, Dystonia |
OMIM:617435 |
Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the inner ear, Underdeveloped tragus, Abnorm... |
ORPHA:50815 |
48,Xxyy Syndrome |
|
Chronic otitis media, Ataxia, Attention deficit hyperactivity disorder, Hypergonadotropic hypogon... |
ORPHA:10 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vestibular areflexia, Dystonia, Head titubation, Absent brainstem auditory responses |
ORPHA:3240 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Ataxia |
OMIM:619260 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes |
ORPHA:163985 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:613670 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia, Chorea, Exaggerated startle response, EEG with generalized slow activity,... |
OMIM:617864 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal repetitive mannerisms, Difficulty walking, Waddling gait, Dystonia |
ORPHA:280763 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance, Macrotia, Tremor |
ORPHA:457240 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Sensorineural hearing impairment, Stereotypical hand wringing,... |
OMIM:600430 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Abnormal repetitive mannerisms, Low-set ears, Inability to walk |
OMIM:613443 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bruxism, Abnormal repetitive mannerisms, Broad-based gait, Hearing impairment |
OMIM:616351 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
4Q21 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Low-set ears, Tremor, Hearing impairment |
ORPHA:238750 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Unsteady gait, Ataxia, Titubation, Tremor, Compulsive behaviors, Dysmetria |
OMIM:619405 |
Bor Syndrome |
|
External ear malformation, Abnormality of the middle ear ossicles, Atresia of the external audito... |
ORPHA:107 |
Gorham-Stout Disease |
|
Torticollis, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Autism, Susceptibility To, 3 |
|
Abnormal repetitive mannerisms, EEG abnormality |
OMIM:608049 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Optic atrophy |
OMIM:619690 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Abnormal repetitive mannerisms |
OMIM:615282 |
Coffin-Siris Syndrome 6 |
|
Low-set ears, Conductive hearing impairment, Tics, Posteriorly rotated ears, Attention deficit hy... |
OMIM:617808 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Aplasia of the semicircular ... |
ORPHA:648 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypsarrhythmia, Ataxia, EEG with occipital epileptiform discharges, Head tremor, EEG with parieta... |
OMIM:619428 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Low-set ears, Hyperactivity, Ataxia, Posteriorly rotated ears, Abnormal repetitive mannerisms, Co... |
OMIM:618430 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves ... |
OMIM:301008 |
Rett Syndrome, Congenital Variant |
|
Protruding ear, Bruxism, EEG abnormality, Athetosis, Chorea, Tongue thrusting, Abnormal repetitiv... |
OMIM:613454 |
Radio-Tartaglia Syndrome |
|
Low-set ears, Conductive hearing impairment, Ataxia, Attention deficit hyperactivity disorder, He... |
OMIM:619312 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Difficulty walking, Dystonic gait, Titubation, Athetosis, Head tremor, Abnormality of som... |
ORPHA:280219 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Disinhibition, Abnormal repetitive mannerisms, Restlessness, Dystonia |
OMIM:600795 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Optic atrophy, Optic disc pallor, Impaired vibration sensation in t... |
ORPHA:320406 |
Behavioral Variant Of Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Gait disturbance, EEG with continuous slow activity, Collectionism |
ORPHA:275864 |
Potocki-Lupski Syndrome |
|
Hyperactivity, EEG abnormality, Hearing impairment, Oral-pharyngeal dysphagia, Abnormal repetitiv... |
OMIM:610883 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, EEG with focal spike waves, Trem... |
ORPHA:1942 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Impaired vibratory sensation, Hyperactivity, Sensorineural hearing impairment |
OMIM:609727 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Hypogonadism, Abnormal pinna morphology, Tremor, Gait ataxia |
OMIM:300354 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Low-set ears, Inability to walk, Interictal epileptiform activity, Abnormal repetitive mannerisms... |
OMIM:617802 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Low-set ears, Inability to walk, Ataxia, Bruxism, Chorea, Pain insensitivity, Repetitive compulsi... |
OMIM:300260 |
Xq21 Microdeletion Syndrome |
|
Conductive hearing impairment, Ataxia, Stapes ankylosis, Bilateral sensorineural hearing impairme... |
ORPHA:1435 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Athetosis, Chorea, Dysphagia, Macrotia, Abnormal repetitive mannerisms, Impulsivity |
OMIM:619435 |
Crouzon Syndrome |
|
Narrow internal auditory canal, Conductive hearing impairment, Optic atrophy, Hearing impairment |
ORPHA:207 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Chorea, Abnormal repetitive mannerisms, ... |
OMIM:617600 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Attention deficit hyperactivity disorder, Sensorineural hearing im... |
ORPHA:261197 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, EEG abnormality, Attention deficit hyperactivity disorder, Abnormal repeti... |
OMIM:610042 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Developmental And Epileptic Encephalopathy 103 |
|
Hypsarrhythmia, Hyperactivity, Ataxia, Opisthotonus, EEG with burst suppression, Continuous spike... |
OMIM:619913 |
Childhood Absence Epilepsy |
|
EEG with spike-wave complexes (2.5-3.5 Hz), Jerky head movements, Punding |
ORPHA:64280 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Neonatal hy... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Neonatal hy... |
ORPHA:529799 |
Coffin-Siris Syndrome 7 |
|
Low-set ears, Hyperactivity, Posteriorly rotated ears, Hearing impairment, Recurrent otitis media... |
OMIM:618027 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Obsessive-compulsive trait, EEG with generalized slow activity... |
ORPHA:168491 |
X-Linked Adrenoleukodystrophy |
|
Progressive hearing impairment, Somatic sensory dysfunction, Hyperactivity, Disinhibition, Attent... |
ORPHA:43 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Low-set ears, Hyperactivity, Ataxia, Agitation, Restlessness, EEG abnormality, Overfriendliness, ... |
ORPHA:369891 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Abnormal repetitive mannerisms, Obsessive-compulsive trait, Attention deficit hyperactivity disor... |
OMIM:618825 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Attention deficit hyperactivity disorder, Pain insensitivity, Tremor, Dysphagia, Macrotia, Abnorm... |
OMIM:617061 |
Sandifer Syndrome |
|
Abnormal head movements, Torticollis, Abnormal posturing |
ORPHA:71272 |
Lamb-Shaffer Syndrome |
|
Abnormal repetitive mannerisms, Optic atrophy, Hyperactivity, Ataxia |
ORPHA:530983 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the semicircular canal, External ear malformatio... |
ORPHA:138 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, EEG abnormality, Hyperactivity, Ataxia |
ORPHA:411515 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Abnormal eating behavior, Hyperactivity, Ataxia, EEG abnormality, Tremor, Dysphagia, Tongue thrus... |
ORPHA:98794 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms, Premature ovarian insufficiency, Hyperactivity, Macrotia |
ORPHA:391307 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
2Q23.1 Microdeletion Syndrome |
|
Polyphagia, Abnormal repetitive mannerisms, Hyperactivity, Ataxia |
ORPHA:228402 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Macrotia |
OMIM:618504 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Hyperactivity, Ataxia, Microtia, Dystonia, Impulsivity |
OMIM:616977 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Low-set ears, Overfriendliness, Gait ataxia, Abnormal repetitive mannerisms |
OMIM:616579 |
Cockayne Syndrome Type 1 |
|
Gait disturbance, Ataxia, Absent brainstem auditory responses, Difficulty walking, Hearing impair... |
ORPHA:90321 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Agitation, Truncal titubation, Tremor, Gait ataxia, Exaggerated startle response, Dysmetria |
OMIM:618056 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Athetosis, Exaggerated... |
OMIM:608643 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Protruding ear, Abnormal helix morphology, Attention deficit hyperactivity disorder, Optic nerve ... |
ORPHA:401777 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Low-set ears, Hyperactivity, Recurrent otitis media, Sensorineural hearing impairment, Abnormal r... |
OMIM:617751 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Protruding ear, EEG abnormality, Sensorineural hearing impairment, Abnormal repetitive ma... |
ORPHA:2479 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hypsarrhythmia, Hyperactivity, Ataxia, Bruxism, Macrotia, Stereotypical hand wringing, Abnormal r... |
OMIM:300912 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
EEG with focal spikes, Attention deficit hyperactivity disorder, Interictal epileptiform activity... |
ORPHA:98784 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Recurrent otitis media, Sensorineural hearing impairment, Congenital sensorineural hearing impair... |
ORPHA:500159 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia, External ear malformation, Ataxia |
ORPHA:438216 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Abnormal repetitive mannerisms, Low-set, posteriorly rotated ears, Hyperactivity, Hypogonadism |
ORPHA:3306 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Profound sensorineural hearing impairment, Anteverted ears, Microtia, first degree, Aplasia of th... |
OMIM:610706 |
Infantile Krabbe Disease |
|
Hyperesthesia, Decreased nerve conduction velocity, Hearing impairment, Opisthotonus, Prolonged b... |
ORPHA:206436 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Abnormal repetitive mannerisms, Gait ataxia, Hyperactivity, Macrotia |
OMIM:300486 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia, Chorea |
ORPHA:309246 |
Pick Disease Of Brain |
|
Polyphagia, Abnormal repetitive mannerisms, Disinhibition |
OMIM:172700 |
Snijders Blok-Campeau Syndrome |
|
Abnormal repetitive mannerisms, Low-set ears, Unsteady gait, Broad-based gait |
OMIM:618205 |
22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Hearing impairment, Anterior creases of earlobe, Abnorm... |
ORPHA:1727 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Obsessive-compulsive trait, Low-set ears, Hyperactivity, Asymmetry of the ears, Sensorineural hea... |
OMIM:617796 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Hypsarrhythmia, EEG with burst suppression, Macrotia |
OMIM:615574 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Prominent crus of helix, Attention deficit hyperactivity disorder, Abnormality of ... |
OMIM:301013 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Abnormality of the outer ear, Sensorineural hea... |
ORPHA:435638 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Hypsarrhythmia, Limb dystonia, Inability to walk, EEG abnormality, EEG with frontal sharp slow wa... |
ORPHA:457351 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Synotia, Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Narrow internal au... |
ORPHA:990 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Ataxia, Abnormal autonomic nervous system physiology, Abnormality of peripheral ne... |
ORPHA:35069 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Disinhibition, Abnormal repetitive mannerisms, Dysphagia |
OMIM:612069 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal repetitive mannerisms, Abnormal speech discrimination, EEG with generalized slow activity |
ORPHA:397612 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Aganglionic megacolon, Athetosis, Chorea, Dystonia |
ORPHA:52503 |
13Q12.3 Microdeletion Syndrome |
|
Impaired pain sensation, Chronic otitis media, Hyperactivity, Hearing impairment |
ORPHA:412035 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypogonadism, Bilateral sensorineural hearing impairment, Attention deficit hypera... |
ORPHA:73272 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms |
OMIM:613886 |
16P11.2P12.2 Microdeletion Syndrome |
|
Impaired pain sensation, Chronic otitis media, Low-set ears, Hyperactivity, Tics, Abnormal pinna ... |
ORPHA:261211 |
Rett Syndrome |
|
Inability to walk, Gait disturbance, Difficulty walking, EEG abnormality, Abnormal autonomic nerv... |
ORPHA:778 |
Kohlschutter-Tonz Syndrome-Like |
|
Hypsarrhythmia, Ataxia, Agitation, EEG abnormality, Posteriorly rotated ears, EEG with focal spik... |
OMIM:619229 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Low-set ears, Torticollis, Inability to walk, Bilateral sensorineural hearing impairment, Abnorma... |
ORPHA:300570 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Chorea, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dysphagia, Impulsivity,... |
OMIM:610217 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy |
OMIM:617281 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Compu... |
OMIM:615656 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Low-set ears, Stereotypical hand wringing |
ORPHA:319671 |
Bilateral Generalized Polymicrogyria |
|
Abnormal repetitive mannerisms, Oculogyric crisis, Oral-pharyngeal dysphagia, Dystonia |
ORPHA:208447 |
Tay-Sachs Disease |
|
Hearing impairment, Tremor, Exaggerated startle response, Dysphagia, Laryngeal dystonia, Optic at... |
ORPHA:845 |
Cri-Du-Chat Syndrome |
|
Low-set ears, Difficulty walking, Abnormal pinna morphology, Hearing impairment, Stenosis of the ... |
OMIM:123450 |
Transketolase Deficiency |
|
Attention deficit hyperactivity disorder, Hearing impairment, Abnormal repetitive mannerisms, Sec... |
ORPHA:488618 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Bilateral sensorineural hearing impairment, Repetitive compulsive behavior, Action tremor... |
ORPHA:66634 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Stereotypical hand wringing, EEG with generalized epileptiform discharges, Hyperactivity, Ataxia,... |
ORPHA:163681 |
Smith-Magenis Syndrome |
|
Impaired pain sensation, Chronic otitis media, Conductive hearing impairment, EEG abnormality, At... |
ORPHA:819 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Dystonia, Gait disturbance, Aganglionic megacolon, Abnormal repetitive mannerisms, Underfolded su... |
OMIM:300352 |
Phelan-Mcdermid Syndrome |
|
Impaired pain sensation, Unsteady gait, Protruding ear, Bruxism, Hearing impairment, Tongue thrus... |
OMIM:606232 |
Saethre-Chotzen Syndrome |
|
Low-set ears, Conductive hearing impairment, External ear malformation, Prominent crus of helix, ... |
ORPHA:794 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Tics, Ataxia, Tongue thrusting, Stereotypical body rocking, Pica |
OMIM:617865 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing |
OMIM:614857 |
Sandhoff Disease |
|
Ataxia, Exaggerated startle response, Impotence, Orthostatic hypotension, Impaired temperature se... |
OMIM:268800 |
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked |
|
Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
Cerebrotendinous Xanthomatosis |
|
Somatic sensory dysfunction, Ataxia, Agitation, Optic neuropathy, Abnormal motor evoked potential... |
ORPHA:909 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Facial diplegia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Trunca... |
OMIM:619121 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Abnormal repetitive mannerisms, Low-set ears, Compulsive behaviors |
OMIM:613174 |
Brain-Lung-Thyroid Syndrome |
|
Abnormal eating behavior, Hyperactivity, Ataxia, Chorea, Abnormal drinking behavior, Intention tr... |
ORPHA:209905 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Abnormal repetitive mannerisms, Ataxia, Agitation |
ORPHA:927 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:620141 |
Adenylosuccinase Deficiency |
|
Gait ataxia, Low-set ears, Opisthotonus, Hyperactivity |
OMIM:103050 |
Hydroxykynureninuria |
|
Abnormal repetitive mannerisms, Congenital sensorineural hearing impairment |
ORPHA:79155 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Recurrent hand ... |
OMIM:300986 |
Shukla-Vernon Syndrome |
|
Abnormal repetitive mannerisms, Broad-based gait |
OMIM:301029 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia, Chorea |
OMIM:272750 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Dysphagia, Exaggerated startle response, Low-set ears, Optic atrophy |
OMIM:617301 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal repetitive mannerisms, Loss of ambulation, Optic disc pallor, Interictal EEG abnormality |
ORPHA:79264 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms, Abnormal antihelix morphology, Protruding ear |
ORPHA:261144 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent otitis media, Macrotia, Abnorm... |
ORPHA:449291 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms, Optic atrophy, Dystonia |
ORPHA:496641 |
Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Hypsarrhythmia, Low-set, posteriorly rotated ears, Exagg... |
ORPHA:521426 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Low-set ears, Overfriendliness, Posteriorly rotated ears, Attention deficit hyperactivity disorde... |
OMIM:619293 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Sensorineural hearing impairment, Ataxia |
ORPHA:760 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:617044 |
Unilateral Polymicrogyria |
|
Giant somatosensory evoked potentials, Abnormal posturing, Infantile sensorineural hearing impair... |
ORPHA:268943 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Low-set ears, Unsteady gait, Posteriorly rotated ears, Macrotia, Sensorineural hearing impairment... |
OMIM:212066 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Low-set ears, Jerky head movements, EEG with spike-wave complexes, EEG with generalized sharp slo... |
ORPHA:369837 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Ataxia, Hearing impairment, Dysphagia, Male hypogonadism, Dysmetria |
ORPHA:139396 |
Kleefstra Syndrome 1 |
|
Abnormal repetitive mannerisms, Compulsive behaviors, Abnormal pinna morphology, Hearing impairment |
OMIM:610253 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Bruxism, Abnormal repetitive mannerisms, Low-set ears, Ataxia |
OMIM:616393 |
Vici Syndrome |
|
Low-set ears, Abnormal posturing, Sensorineural hearing impairment |
OMIM:242840 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Optic atrophy, Optic disc pallor |
OMIM:609541 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Abnormal repetitive mannerisms |
OMIM:615637 |
Tick-Borne Encephalitis |
|
Tinnitus, Somatic sensory dysfunction, Abnormal cranial nerve morphology, Abnormality of the vest... |
ORPHA:297 |
Cockayne Syndrome A |
|
Ataxia, Abnormal pinna morphology, Hypogonadism, Decreased nerve conduction velocity, Tremor, Irr... |
OMIM:216400 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
EEG with spike-wave complexes, Ataxia, EEG abnormality, EEG with series of focal spikes, Chorea, ... |
ORPHA:522077 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal repetitive mannerisms, Low-set ears, Unsteady gait, Ataxia |
ORPHA:457279 |
Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct |
ORPHA:18 |
Developmental And Epileptic Encephalopathy 66 |
|
Abnormal repetitive mannerisms, Broad-based gait |
OMIM:618067 |
Mogs-Cdg |
|
Optic atrophy, Dystonia, Sensorineural hearing impairment, Absent brainstem auditory responses |
ORPHA:79330 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Abnormal repetitive mannerisms, Cupped ear |
OMIM:618914 |
White-Sutton Syndrome |
|
Low-set ears, Tics, Bilateral sensorineural hearing impairment, Posteriorly rotated ears, Optic n... |
OMIM:616364 |
47,Xyy Syndrome |
|
Low-set ears, Hyperactivity, Attention deficit hyperactivity disorder, Azoospermia, Male infertil... |
ORPHA:8 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Hyperlysinemia |
|
Hypoplasia of the antihelix, EEG with spike-wave complexes, Hyperactivity, Hypoplastic helices, T... |
ORPHA:2203 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Attention deficit hyperactivity disorder, Tremor, Gait ataxia, Abnormal repetitive mannerisms, Co... |
ORPHA:476126 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Abnormal repetitive mannerisms, Optic atrophy, Attention deficit hyperactivity disorder |
ORPHA:313892 |
Gm1 Gangliosidosis Type 1 |
|
Low-set ears, Hearing impairment, Exaggerated startle response, Macrotia, Dystonia |
ORPHA:79255 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Low-set ears, Attention deficit hyperactivity disorder, Head-banging |
OMIM:619103 |
Charge Syndrome |
|
Low-set ears, Lop ear, Mixed hearing impairment, Facial palsy, Cupped ear, Sensorineural hearing ... |
OMIM:214800 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Low-set ears, Ataxia, Broad-based gait, Posteriorly rotated ears, Pain insensitivity, Gait ataxia... |
OMIM:617330 |
Cockayne Syndrome B |
|
Ataxia, Abnormal pinna morphology, Decreased nerve conduction velocity, Tremor, Abnormal auditory... |
OMIM:133540 |
Trisomy 10P |
|
Low-set ears, Abnormality of the ear, Low voltage EEG, EEG with focal spikes, Posteriorly rotated... |
ORPHA:171929 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Prominent crus of helix, Protruding ear, Abnormal repetitive man... |
OMIM:619695 |
2Q37 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Conductive hearing impa... |
ORPHA:1001 |
Cardiospondylocarpofacial Syndrome |
|
Low-set ears, Conductive hearing impairment, Enlarged vestibular aqueduct, Posteriorly rotated ea... |
OMIM:157800 |
7Q11.23 Microduplication Syndrome |
|
Abnormal optic disc morphology, Polyphagia, Low-set, posteriorly rotated ears, Chronic otitis med... |
ORPHA:96121 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Low-set ears, Posteriorly rotated ears, Dysphagia, Exaggerated startle response, Optic atrophy |
OMIM:617527 |
Niemann-Pick Disease, Type C2 |
|
Dysphagia, Abnormal repetitive mannerisms, Dystonia, Ataxia |
OMIM:607625 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Bilateral sensorineural hearing impairment, Atresia of the e... |
ORPHA:2306 |
Pitt-Hopkins Syndrome |
|
Abnormal repetitive mannerisms, Gait ataxia, Cupped ear, Thickened helices |
OMIM:610954 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
White-Sutton Syndrome |
|
Hyperactivity, EEG abnormality, Posteriorly rotated ears, Abnormality of the outer ear, Sensorine... |
ORPHA:468678 |
Developmental And Epileptic Encephalopathy 2 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia, Inability to walk, EEG with generalized slow acti... |
OMIM:300672 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Prominent antihelix, Macrotia |
OMIM:615802 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms |
OMIM:618347 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Protruding ear, Agitation, Bruxism, EEG abnormality, Hearing impairment, Cupped ear, Abnormal rep... |
OMIM:619475 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Obsessive-compulsive trait, Hyperactivity, Ataxia, Blepharospasm, Phonic tics, Motor tics, Tremor... |
OMIM:234200 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Low-set ears, Hand tremor, Protruding ear, Ataxia, Hyperactivity, Posteriorly rotated ears, Atten... |
OMIM:614756 |
Nmda Receptor Encephalitis |
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EEG with temporal sharp slow waves, Agitation, Oculogyric crisis, Abnormal autonomic nervous syst... |
ORPHA:217253 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:620242 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Head-banging, Low-set ears, Attention deficit hyperactivity disorder, Recurrent otitis media, Sen... |
OMIM:619575 |
Bainbridge-Ropers Syndrome |
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Low-set ears, Inability to walk, Posteriorly rotated ears, Abnormal repetitive mannerisms, Recurr... |
OMIM:615485 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Childhood Disintegrative Disorder |
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Abnormal repetitive mannerisms |
ORPHA:168782 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:572013 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Repetitive compulsive behavior, Recurrent otitis media, Gait ataxia, Abnormal repetitive manneris... |
ORPHA:513456 |
Developmental And Epileptic Encephalopathy 100 |
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EEG with photoparoxysmal response, Chorea, Dysphagia, Gait ataxia, Abnormal repetitive mannerisms... |
OMIM:619777 |
Kleefstra Syndrome |
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Abnormal repetitive mannerisms, Chronic otitis media, Thickened helices, Hearing impairment |
ORPHA:261494 |
Choreoacanthocytosis |
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Head-banging, Limb dystonia, Hyperactivity, Blepharospasm, Bruxism, Decreased amplitude of sensor... |
ORPHA:2388 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Low-set ears, Posteriorly rotated ears, Sensorineural hearing impairment, Abnormal repetitive man... |
OMIM:301040 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Low-set ears, Hypsarrhythmia, Hyperactivity, Protruding ear, Dysphagia, Abnormal repetitive manne... |
ORPHA:447997 |
Cystinosis |
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Abnormal repetitive mannerisms, Gait disturbance |
ORPHA:213 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Mend Syndrome |
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Low-set ears, Abnormal auditory evoked potentials, Hyperactivity |
ORPHA:401973 |
Early Infantile Epileptic Encephalopathy |
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Hypsarrhythmia, EEG with spike-wave complexes, Hyperactivity, EEG abnormality, Uni- and bilateral... |
ORPHA:1934 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Impaired pain sensation, EEG abnormality, Attention deficit hyperactivity disorder, Abnormal repe... |
OMIM:619005 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:529965 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Low-set ears, Hyperactivity, Posteriorly rotated ears, Macrotia, Sensorineural hearing impairment... |
OMIM:619512 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Van Esch-O'Driscoll Syndrome |
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Protruding ear, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Microti... |
OMIM:301030 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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EEG with parietal focal spikes, Posteriorly rotated ears, EEG with occipital focal spikes, EEG wi... |
OMIM:301066 |
Pilarowski-Bjornsson Syndrome |
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Abnormal repetitive mannerisms |
OMIM:617682 |
Mucopolysaccharidosis Type 2 |
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Conductive hearing impairment, Hyperactivity, Papilledema, Decreased nerve conduction velocity, O... |
ORPHA:580 |
Legius Syndrome |
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Hyperactivity, Vestibular schwannoma, Attention deficit hyperactivity disorder, Hearing impairmen... |
ORPHA:137605 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Abnormal repetitive mannerisms, Overfolded helix, Low-set ears, Difficulty walking |
OMIM:618653 |
Arboleda-Tham Syndrome |
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Prominent antihelix, Prominent antitragus, Chronic otitis media, Low-set ears, Underdeveloped tra... |
OMIM:616268 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Low-set, posteriorly rotated ears, Thin ear helix, Bilateral sensorineural hearing impairment, Op... |
ORPHA:468631 |
Norrie Disease |
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Protruding ear, Abnormal helix morphology, EEG abnormality, Abnormal cochlea morphology, Macrotia... |
ORPHA:649 |
Wiedemann-Steiner Syndrome |
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Dysphagia, Abnormal repetitive mannerisms, Low-set ears, Hyperactivity |
ORPHA:319182 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Abnormal repetitive mannerisms, Gait disturbance, Optic disc pallor, Protruding ear |
ORPHA:464311 |
Kinsship Syndrome |
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Bruxism, Abnormal repetitive mannerisms, Low-set ears |
OMIM:619297 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Low-set ears, Posteriorly rotated ears, Attention deficit hyperactivity disorder, Dysphagia, Exag... |
OMIM:619522 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Gait disturbance, Protruding ear, Optic disc pallor, Macrotia, Abnormal repetitive mannerisms |
ORPHA:464306 |
Helsmoortel-Van Der Aa Syndrome |
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Polyphagia, Low-set ears, Hyperactivity, Bruxism, Posteriorly rotated ears, Attention deficit hyp... |
OMIM:615873 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Low-set ears, Hyperactivity, Protruding ear, Posteriorly rotated ears, Hearing impairment, Cupped... |
OMIM:309590 |
Schinzel-Giedion Syndrome |
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Low-set ears, Hypsarrhythmia, Abnormal helix morphology, Infantile sensorineural hearing impairme... |
ORPHA:798 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Dysphagia, Exaggerated startle response, EEG with generalized slow activity |
OMIM:618367 |
Prader-Willi Syndrome Due To Translocation |
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Head-banging, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Hypogonad... |
ORPHA:177907 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Abnormal optic disc morphology, Optic nerve hypoplasia, Hearing impairment, Facial palsy, Abnorma... |
ORPHA:508498 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Abnormal repetitive mannerisms, Opisthotonus, Inability to walk |
ORPHA:508533 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Hypsarrhythmia, EEG abnormality, Posteriorly rotated ears, Abnormal repetitive mannerisms, Overfo... |
OMIM:301044 |
Coffin-Siris Syndrome 12 |
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Prominent antihelix, Low-set ears, Overfolding of the superior helices, Protruding ear, Posterior... |
OMIM:619325 |
1P36 Deletion Syndrome |
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Polyphagia, Low-set, posteriorly rotated ears, Conductive hearing impairment, Hypogonadism, EEG a... |
ORPHA:1606 |
Primrose Syndrome |
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Ataxia, Restlessness, Calcification of the auricular cartilage, Tics, Attention deficit hyperacti... |
OMIM:259050 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Conductive hearing impairment, Hyperactivity, EEG abnormality, Sensorineural hearing impairment, ... |
ORPHA:353281 |
Oculocerebrorenal Syndrome Of Lowe |
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Chronic otitis media, Low-set, posteriorly rotated ears, Protruding ear, EEG abnormality, Attenti... |
ORPHA:534 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Low-set ears, Protruding ear, Tremor, Sensorineural hearing impairment, Simple ear, Abnormal repe... |
OMIM:612474 |
Ogden Syndrome |
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Low-set ears, Torticollis, Protruding ear, Recurrent otitis media, Macrotia, Abnormal repetitive ... |
OMIM:300855 |
Wolf-Hirschhorn Syndrome |
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Conductive hearing impairment, Abnormal pinna morphology, EEG abnormality, Stenosis of the extern... |
OMIM:194190 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Low-set ears, Conductive hearing impairment, Hyperactivity, EEG abnormality, Sensorineural hearin... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Low-set ears, Conductive hearing impairment, Hyperactivity, EEG abnormality, Sensorineural hearin... |
ORPHA:353277 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Optic disc pallor, Dysphagia, Exaggerated startle response, Stereotypical hand wringing, Dystonia |
ORPHA:438213 |
Mowat-Wilson Syndrome |
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Impaired pain sensation, Uplifted earlobe, Oligomenorrhea, Conductive hearing impairment, EEG wit... |
ORPHA:2152 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Abnormal repetitive mannerisms, Loss of ambulation, Unsteady gait |
OMIM:616682 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Impaired pain sensation, Uplifted earlobe, Inability to walk, Bruxism, EEG abnormality, Posterior... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Impaired pain sensation, Uplifted earlobe, Inability to walk, Bruxism, EEG abnormality, Posterior... |
ORPHA:261552 |
Lowe Oculocerebrorenal Syndrome |
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Abnormal repetitive mannerisms |
OMIM:309000 |