| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature |
|
Intrauterine growth retardation, Short stature |
OMIM:135950 |
| Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... |
OMIM:604213 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... |
OMIM:600638 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Death in infancy, Agenesis of corpus callosum |
ORPHA:85334 |
| Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... |
ORPHA:101029 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Lissencephaly, ... |
OMIM:610031 |
| Lissencephaly, X-Linked, 1 |
|
Death in infancy, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
| Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:171703 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Anorexia, Decreased body weight, Spasticity, Failure... |
ORPHA:99852 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
| Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... |
OMIM:614019 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum |
ORPHA:572013 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... |
OMIM:608716 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Severe muscular hypotonia, Facial palsy, Sensorineural heari... |
OMIM:617519 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
| Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401830 |
| Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum |
OMIM:619501 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Pseudobulbar paralysis, Spasticit... |
ORPHA:208441 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618325 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, C... |
OMIM:615771 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... |
ORPHA:300570 |
| Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Cochlear malformation, Abnormal vestibular function |
OMIM:274600 |
| Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
| Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
| Lissencephaly 3 |
|
Microcephaly, Polymicrogyria, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyria, Agene... |
OMIM:611603 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral patter... |
OMIM:619302 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Axial hypotonia, Ataxia, E... |
OMIM:616881 |
| Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo... |
ORPHA:171680 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... |
ORPHA:300573 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal vestibular function |
OMIM:619553 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:85179 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... |
OMIM:600348 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
| Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Death in childhood |
OMIM:613163 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... |
ORPHA:255182 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Resting tremor, Focal EEG discharges with secondary general... |
ORPHA:3077 |
| Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Agenesi... |
ORPHA:1528 |
| Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal vestibular function, Absent brainstem auditory responses, Generalized dystonia, Dystonia... |
ORPHA:52368 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum |
OMIM:619466 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Axial hypotonia, Ataxia, D... |
ORPHA:206443 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia |
OMIM:257100 |
| Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Frontal encephalocele, Lissencephaly, Absent septum pellucidum |
OMIM:218670 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum |
OMIM:614833 |
| Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing imp... |
OMIM:125250 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Microcephaly, Lissencephaly, Neonatal death, Agenesis of corpus callosum, Agyria |
OMIM:616342 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
| Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
| Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Failure to thrive, Exaggerated startle response, Optic nerve hypoplasia, Chorea, Spastic tetraple... |
OMIM:617864 |
| Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly |
ORPHA:2512 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... |
OMIM:616900 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypotonia, Generalized hyp... |
OMIM:109120 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
| Holoprosencephaly 11 |
|
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly |
OMIM:614226 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly, Death in infancy, Death in childhood |
OMIM:619423 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Restless legs, Absent brainstem auditory responses, Somatic sensory... |
ORPHA:101085 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Death in childhood, Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities |
OMIM:619737 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, Ataxia, Ac... |
ORPHA:99027 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Progressive spastic quadrip... |
ORPHA:309246 |
| Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... |
ORPHA:2524 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
| Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Hypoplasia of the corpus callosum, Short corpus callosum, Corticospinal tr... |
ORPHA:255138 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hypotonia, Hearing impairment, Depression |
OMIM:620114 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Cachexia, Decreased nerve ... |
ORPHA:206436 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Synotia, Narrow internal auditory canal, Agenesis of corpus ca... |
ORPHA:990 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Posteriorly rotated ears, A... |
OMIM:618598 |
| Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum |
OMIM:618810 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... |
ORPHA:1215 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Axial hypotonia, Ataxia, Abnormal auditory evoked potentials, Sensorineural he... |
OMIM:619260 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of corpus callosum |
OMIM:614402 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Axial hypotonia, Exaggerated startle response, Dysplastic corpus callosum, Optic a... |
OMIM:617281 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, ... |
OMIM:608643 |
| Septooptic Dysplasia |
|
Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:182230 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616975 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Axial hypotonia, Head titubation, Vestibular areflexia, Spas... |
ORPHA:3240 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response, Hypertonia |
ORPHA:163985 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Chorea, Hypotonia, Hypertoni... |
OMIM:272750 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ... |
ORPHA:357058 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dysmetria, Gait ataxia... |
OMIM:618056 |
| Asparagine Synthetase Deficiency |
|
Failure to thrive, Axial hypotonia, Exaggerated startle response, Optic nerve hypoplasia, Simple ... |
OMIM:615574 |
| Developmental And Epileptic Encephalopathy 68 |
|
Spasticity, Failure to thrive, Exaggerated startle response |
OMIM:618201 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... |
OMIM:619103 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ... |
ORPHA:521426 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Axial hypotonia, Hearing impairment, Tremor, Limb hypertonia |
OMIM:620327 |
| Stiff Person Spectrum Disorder |
|
Rigidity, Emotional lability, Exaggerated startle response |
ORPHA:3198 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Optic atrophy, Dysmetria, Depression, Decerebrate... |
ORPHA:845 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Hypertonia, Hypotonia, Generalized hypotonia |
OMIM:272800 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Lower limb spasticity, Failure to thrive, Ataxia, Tremor, Op... |
ORPHA:90321 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Progressive ... |
ORPHA:206448 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Impaired vibration sensation in t... |
ORPHA:320406 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... |
ORPHA:544488 |
| Arthrogryposis, Distal, Type 2A |
|
Failure to thrive, Small for gestational age, Abnormal auditory evoked potentials, Hearing impair... |
OMIM:193700 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Axial hypotonia, Optic atrophy, Hypertonia, Low-set ears, Dysphagia |
OMIM:617301 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Somatic sensory dysfunction, Dystonia, Ataxia, Resting tremor, Abnormal audito... |
ORPHA:909 |
| Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Micro... |
ORPHA:314679 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Spastic paraplegia, Optic atrophy |
OMIM:609541 |
| Stiff-Person Syndrome |
|
Rigidity, Exaggerated startle response, Opisthotonus, Depression |
OMIM:184850 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Rigidity, Optic atrophy, Hypotonia, Hyper... |
OMIM:617527 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Facial hypotonia, Severe muscular hypotonia, Ataxia, External ear m... |
ORPHA:438216 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Irritability, Lateral ventricle dilatation, Hypertonia, Dysphagia, ... |
OMIM:618367 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Hearing impairment |
ORPHA:100924 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
| Trisomy 10P |
|
Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
| Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired temperature sensation, Hy... |
OMIM:268800 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Focal hypointensity of cerebral white matter on MRI, Hypoplastic anterior commissure, Large basal... |
ORPHA:261552 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia, Decerebrate rigidity, Low-set ears, Infantile muscular hy... |
ORPHA:79255 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Optic atrophy, Hypotonia, Generalized hypotonia, Agenesis of corpus... |
OMIM:253800 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia, I... |
ORPHA:79330 |
| Sandhoff Disease, Infantile Form |
|
Infantile axial hypotonia, Spasticity, Exaggerated startle response |
ORPHA:309155 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia |
OMIM:614618 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia |
OMIM:614619 |
| Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Generalized hypotonia, L... |
ORPHA:401973 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop... |
OMIM:618820 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentials, Ataxia... |
OMIM:133540 |
| Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia |
OMIM:149400 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... |
OMIM:151050 |
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Optic disc pallor, Uplifted earlobe, Optic atrophy, Hypotonia, Protruding ear, Prominent antiheli... |
OMIM:615722 |
| Cockayne Syndrome A |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:216400 |
| White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Hypotonia, Protruding ear,... |
ORPHA:401777 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353281 |
| Zttk Syndrome |
|
Abnormal cerebral white matter morphology, Periventricular leukomalacia, Dysplastic corpus callos... |
OMIM:617140 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dysplastic corpus callosum, Thick corpus callosum |
OMIM:300967 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral white matter morphology, ... |
ORPHA:500150 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:466791 |
| Witteveen-Kolk Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... |
OMIM:613406 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Hypotonia, Microtia, Attention deficit hy... |
OMIM:619522 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Dystonia, Dysphagia, Infantile muscular hypotoni... |
ORPHA:438213 |
