Epilepsy, Familial Adult Myoclonic, 7 |
|
Seizure, Myoclonic tremor |
OMIM:618075 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Seizure, Myoclonus |
OMIM:217200 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus |
OMIM:208700 |
Infantile Spasms Syndrome |
|
Myoclonus, Infantile spasms |
ORPHA:3451 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure |
OMIM:611092 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
Benign Adult Familial Myoclonic Epilepsy |
|
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor |
ORPHA:86814 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure |
OMIM:612437 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... |
OMIM:162350 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor |
OMIM:618876 |
Myoclonus-Dystonia Syndrome |
|
Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus |
ORPHA:36899 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus |
OMIM:125370 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... |
ORPHA:95434 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... |
OMIM:616139 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Hand tremor... |
OMIM:608105 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Peripheral axonal neuropathy, Facial palsy, Dysgenesis of the basal ganglia, Hypoplastic anterior... |
OMIM:600638 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ... |
OMIM:204300 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:613608 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:607432 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... |
OMIM:607682 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity |
OMIM:545000 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Seizure, Ataxia, Myoclonus |
OMIM:600143 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Developmental And Epileptic Encephalopathy 37 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... |
OMIM:616981 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... |
ORPHA:79262 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... |
OMIM:616421 |
Juvenile Myoclonic Epilepsy |
|
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... |
ORPHA:307 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Myoclonus |
OMIM:159900 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... |
OMIM:607317 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge... |
ORPHA:2590 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... |
OMIM:615362 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction |
ORPHA:401901 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly |
OMIM:615041 |
Hereditary Geniospasm |
|
Chin myoclonus, Intention tremor |
ORPHA:53372 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Seizure, Ataxia, Myoclonus |
OMIM:204500 |
Benign Familial Neonatal Epilepsy |
|
Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure... |
ORPHA:1949 |
Combined Saposin Deficiency |
|
Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations |
OMIM:611721 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... |
ORPHA:2382 |
Dystonia 15, Myoclonic |
|
Myoclonus |
OMIM:607488 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... |
OMIM:612736 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus |
OMIM:619647 |
Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Myoclonus, Truncal ataxia, Action m... |
OMIM:616230 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Gen... |
ORPHA:86909 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Abnormality of the anterior commissure, Agenesis of corpus ... |
OMIM:617542 |
Early Myoclonic Encephalopathy |
|
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... |
ORPHA:1935 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Myoclonus, Ataxia, Dysmetria |
OMIM:619191 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Spasticity |
OMIM:615924 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus |
OMIM:254800 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Ty... |
ORPHA:725 |
Developmental And Epileptic Encephalopathy 16 |
|
Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f... |
OMIM:615338 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements |
OMIM:618425 |
Hemimegalencephaly |
|
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, Status epileptic... |
ORPHA:99802 |
Alpers-Huttenlocher Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... |
ORPHA:726 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Abnormal pyramidal sign, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramida... |
ORPHA:352596 |
Developmental And Epileptic Encephalopathy 69 |
|
Spastic tetraplegia, Hyperkinetic movements, Status epilepticus, Myoclonus |
OMIM:618285 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status epilepticus,... |
ORPHA:71277 |
Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity |
OMIM:617065 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus |
OMIM:300699 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus |
OMIM:261630 |
Developmental And Epileptic Encephalopathy 92 |
|
Seizure, Spasticity, Ataxia, Myoclonus |
OMIM:617829 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, My... |
OMIM:159950 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... |
ORPHA:263516 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... |
ORPHA:254343 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Choreoathetosis, Seizure, Myoclonus, Generalized myocloni... |
OMIM:301020 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Thin corpus callosum, Abnormality of the anterior commissure, Pachygyria, Optic nerve hypoplasia |
ORPHA:572013 |
Dystonia 23 |
|
Torticollis, Myoclonus, Head tremor |
OMIM:614860 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... |
ORPHA:33069 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Choreoathetosi... |
OMIM:618497 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:300067 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration |
ORPHA:101029 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly |
ORPHA:352682 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Erratic myoclonus |
OMIM:619971 |
Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Lissencephaly 3 |
|
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... |
OMIM:611603 |
Dystonia 6, Torsion |
|
Torticollis, Myoclonus |
OMIM:602629 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoclonus |
OMIM:256731 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615938 |
Pontocerebellar Hypoplasia Type 4 |
|
Seizure, Hypertonia, Myoclonus |
ORPHA:166063 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Spastic diplegia, Myoclonus |
OMIM:619065 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Optic atrophy, Dandy-Walker malformation |
ORPHA:1538 |
Phosphoserine Aminotransferase Deficiency |
|
Seizure, Hypertonia, Myoclonus |
OMIM:610992 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Polymicrogyria |
OMIM:604213 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... |
OMIM:612016 |
Glycine Encephalopathy 1 |
|
Seizure, Agenesis of corpus callosum, Myoclonus |
OMIM:605899 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus |
OMIM:619651 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:208447 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... |
ORPHA:139431 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Seizure, Hypertonia, Myoclonus |
OMIM:610090 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:609056 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615937 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Thyrocerebrorenal Syndrome |
|
Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Congenital Disorder Of Glycosylation, Type In |
|
Seizure, Spasticity, Ataxia, Myoclonus |
OMIM:612015 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... |
ORPHA:314632 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys... |
OMIM:619028 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
Spinocerebellar Ataxia 13 |
|
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Spas... |
OMIM:605259 |
Pontocerebellar Hypoplasia, Type 4 |
|
Seizure, Spasticity, Hypertonia, Myoclonus |
OMIM:225753 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Seizure, Myoclonus, Dysmetria |
OMIM:618251 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Chorea, Myoclonic seizure, Seizure, Hyperkinetic movements, Focal impaired aware... |
OMIM:614254 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus |
ORPHA:139485 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi... |
OMIM:204200 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... |
OMIM:615859 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Generalized-onset seizure, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordin... |
ORPHA:79263 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo... |
OMIM:617290 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Dysdiadoch... |
OMIM:614487 |
Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials |
ORPHA:353253 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia |
ORPHA:306511 |
Thyrocerebroretinal Syndrome |
|
Seizure, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia |
OMIM:615544 |
Spinocerebellar Ataxia 17 |
|
Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Seizure, Bradykinesi... |
OMIM:607136 |
Juvenile Huntington Disease |
|
Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Myoc... |
ORPHA:248111 |
Alexander Disease |
|
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor |
OMIM:203450 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
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Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Developmental And Epileptic Encephalopathy 1 |
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Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset seizure, Abnormal pyramidal si... |
OMIM:308350 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Seizure, Spasticity, Ataxia, Myoclonus |
OMIM:256730 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, Large ... |
ORPHA:300570 |
Developmental And Epileptic Encephalopathy 103 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,... |
OMIM:619913 |
Corticobasal Syndrome |
|
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... |
ORPHA:454887 |
Pontocerebellar Hypoplasia, Type 1E |
|
Myoclonus |
OMIM:619303 |
Hsd10 Disease |
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Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Myoclonus, Spastic paraparesis |
ORPHA:391417 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
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Seizure, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:604218 |
Papilloma Of Choroid Plexus |
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Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykinesia, Apr... |
ORPHA:240103 |
Familial Dyskinesia And Facial Myokymia |
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Resting tremor, Chorea, Myoclonus, Limb hypertonia |
ORPHA:324588 |
Hyperekplexia 4 |
|
Seizure, Hypertonia, Myoclonus |
OMIM:618011 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
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Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, ... |
OMIM:619725 |
Foxg1 Syndrome |
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Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Choreoathetosis, Hyperkine... |
ORPHA:561854 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Hypertonia, Myoclonus, Febr... |
ORPHA:289266 |
Band Heterotopia |
|
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria |
OMIM:600348 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
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Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor |
ORPHA:420485 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity |
OMIM:618201 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia, Agenesis of corpus callosum |
OMIM:250620 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Seizure, Spasticity, Ataxia, Myoclonus |
OMIM:620094 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
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Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spastic dysarthria, Dysdia... |
ORPHA:313772 |
Peho-Like Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:617507 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
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Seizure, Babinski sign, Myoclonus, Apraxia |
OMIM:618193 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Bradykinesia, Hypertoni... |
ORPHA:13 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
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Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Generalized non-... |
ORPHA:485350 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
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Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration, Spina bifida |
ORPHA:945 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Schindler Disease, Type I |
|
Seizure, Spasticity, Myoclonus |
OMIM:609241 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
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Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... |
OMIM:604317 |
Paroxysmal Non-Kinesigenic Dyskinesia |
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Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... |
ORPHA:98810 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Bulbous nose, Hydrocephalus, Optic atrophy, Colpocephaly, Lissencepha... |
ORPHA:2185 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Spasticity |
OMIM:617284 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia |
OMIM:166990 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity |
OMIM:618225 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus |
OMIM:619862 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... |
ORPHA:225154 |
Myoclonus, Intractable, Neonatal |
|
Clonic seizure, Chorea, Athetosis, Myoclonus |
OMIM:617235 |
Lissencephaly 9 With Complex Brainstem Malformation |
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Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618325 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus |
OMIM:607876 |
Spinocerebellar Ataxia With Epilepsy |
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Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... |
ORPHA:254881 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Seizure, Hyperkinetic movements |
ORPHA:397933 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... |
OMIM:620352 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Seizure, Lateral ventricle dilatation, Myoclonus, Apraxia, Abnormal upper motor ne... |
OMIM:221770 |
Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Myoclonus |
OMIM:616398 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor function, Myocl... |
OMIM:607822 |
Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
Hyperekplexia 1 |
|
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures |
OMIM:149400 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Seizure, Bradykine... |
OMIM:618877 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Optic atrophy, Simplified gyral pattern |
OMIM:619470 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Seizure, Athetosis, Myoclonus |
OMIM:618241 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Infantile spasms, Focal-onset seizure, Tetraparesis, Myoclonus, Spasticity |
OMIM:618972 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin... |
OMIM:614498 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthotonus, Seizure, La... |
OMIM:619847 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Nipah Virus Disease |
|
Tremor, Seizure, Myoclonus |
ORPHA:99825 |
Alexander Disease Type I |
|
Ataxia, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor |
ORPHA:363717 |
Early-Onset Lafora Body Disease |
|
Seizure, Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, Myoclonus, Intention t... |
OMIM:618356 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... |
OMIM:616640 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Seizure, Status ep... |
ORPHA:363400 |
Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu... |
OMIM:609637 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Choreoathetosis, Seizure, Myoclonus, Episodic ataxia, Agenesis of corpus callosum |
OMIM:312170 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... |
ORPHA:276198 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor apraxia, Freque... |
ORPHA:251347 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Seizure, Lim... |
ORPHA:101 |
Biemond Syndrome Type 2 |
|
Short stature, Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Delayed puberty |
ORPHA:141333 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... |
OMIM:615191 |
Atypical Rett Syndrome |
|
Involuntary movements, Infantile spasms, Tremor, Gait ataxia, Pill-rolling tremor, Seizure, Hand ... |
ORPHA:3095 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus, Progressive s... |
ORPHA:401866 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Seizure, Progressive cerebellar ataxia, Progressive gait a... |
ORPHA:101112 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks |
ORPHA:2898 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Myoclonus, Myoclonic seizure |
OMIM:618240 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Myoclonus |
OMIM:619057 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper... |
OMIM:617493 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissencephaly |
ORPHA:1528 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Babinski sign, Seizure, Myoclonus, Truncal ataxia, Spasticity |
OMIM:252011 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... |
OMIM:617600 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Optic atrophy, Anteverted nares |
OMIM:300884 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Seizure, Hyperki... |
OMIM:271980 |
Subependymal Nodular Heterotopia |
|
Focal-onset seizure, Partial agenesis of the corpus callosum, Seizure, Focal aware seizure, Limb ... |
ORPHA:101030 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, Myoc... |
ORPHA:411986 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Narp Syndrome |
|
Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Myoclonic spasms |
ORPHA:644 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Seizure, ... |
OMIM:617854 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Spastic tetraparesis, Seizure, Lateral ventricle dilatation, Hypertonia, Myoclonus |
ORPHA:284417 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Seizure, Myoclonus |
OMIM:300673 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Spastic paraparesis, Palatal tremor, Truncal ataxia |
OMIM:113610 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... |
OMIM:618060 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Progressive extrapyr... |
ORPHA:53351 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... |
OMIM:183090 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Seizure, Status epi... |
ORPHA:442835 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor fun... |
ORPHA:79279 |
Developmental And Epileptic Encephalopathy 101 |
|
Seizure, Myoclonus, Opisthotonus |
OMIM:619814 |
Abeta Amyloidosis, Iowa Type |
|
Myoclonus |
ORPHA:324708 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pachygyria, Hydrocephalus, Optic atrophy, Short stature |
OMIM:618174 |
Gaucher Disease, Type Iii |
|
Generalized myoclonic seizure, Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Microcephaly, Amish Type |
|
Partial agenesis of the corpus callosum, Myoclonus, Limb hypertonia |
OMIM:607196 |
Gómez-López-Hernández Syndrome |
|
Anteverted nares, Short stature, Hydrocephalus |
ORPHA:1532 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... |
ORPHA:204 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Typical absence seizure, Focal tonic... |
ORPHA:168491 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly, Type II lissencephaly |
OMIM:614830 |
Dystonia 34, Myoclonic |
|
Torticollis, Myoclonus, Hand tremor, Head tremor |
OMIM:619724 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... |
ORPHA:309155 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status... |
OMIM:612949 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Pontocerebellar Hypoplasia, Type 2E |
|
Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Spastic t... |
OMIM:615851 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Seizure... |
ORPHA:399 |
Masa Syndrome |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:303350 |
Posttransplant Acute Limbic Encephalitis |
|
Seizure, Ataxia, Myoclonus |
ORPHA:163921 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
D-Glyceric Aciduria |
|
Seizure, Chorea, Myoclonus, Spasticity |
ORPHA:941 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Riboflavin Transporter Deficiency |
|
Tremor, Seizure, Ataxia, Myoclonus |
ORPHA:97229 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... |
OMIM:617282 |
Pyridoxal Phosphate-Responsive Seizures |
|
Seizure, Hypertonia, Status epilepticus, Myoclonus |
ORPHA:79096 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Limb hypertonia |
OMIM:233910 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia |
ORPHA:1020 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal nasal morphology, Hydrocephalus, Polymicrogyria, Depressed nasal bridge |
ORPHA:83473 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningocele, Hydrocephalus, Optic... |
ORPHA:1914 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Myoclonus |
OMIM:600795 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Epileptic spasm, Seizure, Myoclonus, Agenesis of corpus callosum |
OMIM:617669 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... |
ORPHA:501 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasciculations, Toni... |
OMIM:617281 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Epileptic spasm, Partial agenesis of the corpus callosum, Vocal cord paralysis, Seizure, Myoclonu... |
ORPHA:500144 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Limb ataxia, Titubation, Clumsiness, Seizure, Gait ataxia, Bradykinesia, Myoclonus |
ORPHA:98768 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func... |
OMIM:605711 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Epileptic spasm, Myoclonus |
OMIM:619060 |
Diencephalic Syndrome |
|
Hydrocephalus, Optic atrophy |
ORPHA:1672 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor |
ORPHA:363722 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Status epilepticus, F... |
OMIM:220120 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Myoclonus, Intention tremor |
OMIM:616505 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Type II lissencephaly, Hydrocephalus, Optic atrophy, Intrauterine growth retardation, Ventriculom... |
ORPHA:272 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria |
OMIM:619780 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:250994 |
Bresek Syndrome |
|
Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydroce... |
ORPHA:85284 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Seizure, Myoclonus |
OMIM:616158 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Type II lissencephaly |
ORPHA:324416 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, Short stature |
ORPHA:2183 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, CSF lymphocytic pleiocytosis, Intrauterine growth retardation, Convex nasal ridge,... |
OMIM:610333 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia |
ORPHA:356 |
Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements, Infantile spasms |
OMIM:618374 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Seizure, Lateral ventricle dilatation, Hypertonia, Myoclonus, Spasticity |
ORPHA:3078 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... |
ORPHA:466722 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Simplified gyral pattern |
OMIM:619302 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsiness, Poor fine moto... |
ORPHA:79264 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph... |
OMIM:616212 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Short stature, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:1516 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Chorea, Opisthotonus, Status epilepticus, Myoclonus, Tetraparesis |
OMIM:616672 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria |
ORPHA:300573 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Aganglionic megacolon, Ventriculomegaly |
OMIM:304100 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentra... |
OMIM:616034 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity |
OMIM:614299 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Short nose, Ventriculomegaly |
OMIM:618577 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Tongue... |
OMIM:614969 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Abnormal... |
ORPHA:445038 |
Optic Pathway Glioma |
|
Growth delay, Papilledema, Hydrocephalus, Optic atrophy |
ORPHA:2086 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Seizure, Myoclonus |
OMIM:614462 |
Peho Syndrome |
|
Seizure, Myoclonus |
OMIM:260565 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration |
ORPHA:65 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Dysmetria, Seizure, Myoclonus, Generalized myoclonic seizure, Spas... |
ORPHA:93399 |
Cog8-Cdg |
|
Seizure, Ataxia, Myoclonus |
ORPHA:95428 |
Adenylosuccinase Deficiency |
|
Opisthotonus, Gait ataxia, Seizure, Myoclonus, Hemiplegia, Spasticity |
OMIM:103050 |
Neuraminidase Deficiency |
|
Seizure, Slurred speech, Myoclonus, Dysmetria |
OMIM:256550 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Papilledema, Hydrocephalus |
OMIM:260500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Polymicrogyria, Optic nerve hypoplasia, Type II lissencephaly |
OMIM:615181 |
Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Seizure, Myoclonus, Generalized... |
OMIM:300672 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Seizure, Stillbirth, Myoclonus, Tongue fasciculations, Neonatal death |
OMIM:614922 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Short stature, Prominent nasal bridge, Hydrocephalus, Short nose |
OMIM:300558 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Myoclonus, Head tremor, Limb tremor |
ORPHA:420492 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Spastici... |
ORPHA:171695 |
Unilateral Polymicrogyria |
|
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... |
ORPHA:268943 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Neonatal death, Seizure, Myoclonus |
OMIM:620167 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Slurred speech, Seizure, Myoclonus |
ORPHA:812 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Polymicrogyria, Depressed nasal bridge, Ventriculomegaly |
OMIM:602501 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Generalized clonic seizure, Tremor, Focal-onset seizure, Generaliz... |
OMIM:619229 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Wide nasal base, Wide nasal bridge |
OMIM:616521 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Simplified gyral pattern, Lissencepha... |
OMIM:613153 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... |
OMIM:613839 |
Mepan Syndrome |
|
Chorea, Ataxia, Myoclonus, Spasticity |
ORPHA:508093 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Abnormal fifth cranial nerve morphology, Abnormality of in... |
ORPHA:449563 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Neonatal death, Seizure, Ataxia, Myoclonus |
OMIM:619167 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls |
OMIM:184850 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Choanal atresia |
OMIM:612247 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Depressed nasal bridge, Short stature, Hydrocephalus, Abnormality of neuronal migr... |
ORPHA:93274 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... |
OMIM:612953 |
Microcephaly-Capillary Malformation Syndrome |
|
Seizure, Spastic tetraparesis, Myoclonus, Infantile spasms |
OMIM:614261 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Bilateral tonic-clonic seizure, Babinski sign, Seizure, Status epilepticus, Myoclonus, Spasticity |
ORPHA:364028 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Wide nasal bridge |
OMIM:618302 |
Temple Syndrome |
|
Wide nose, Anteverted nares, Short stature, Depressed nasal bridge, Cryptorchidism, Hydrocephalus... |
OMIM:616222 |
Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
Temple Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Short stature |
ORPHA:254516 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton... |
ORPHA:314655 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Vocal cord paresis, Fasciculations, Polyminimyoclonus |
OMIM:619574 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Seizure, Spasticity, Myoclonus |
OMIM:246450 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616975 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Tremor, Typical absence seizure, Dysmetria, Clumsin... |
ORPHA:845 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Short stature, Cryptorchidism, Hydrocephalus, Short nose |
ORPHA:2701 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Bulbous nose, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation,... |
OMIM:614219 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis... |
OMIM:608643 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Dandy-Walker ... |
OMIM:220220 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Hydrocephalus, Abnormality of neuronal migration, Short nose |
ORPHA:1895 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Myoclonus |
ORPHA:168593 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Right hemiplegia |
OMIM:607426 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Athetoid cerebral palsy |
OMIM:618218 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclonus, Spasti... |
OMIM:616271 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Increased CSF protein concentr... |
OMIM:245200 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Depressed nasal ridge, Intrauterine growth retardation,... |
OMIM:300863 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Ataxia, Clonus, Infantile spasms, Babinski sign, Myoclonic seizure, Opisthotonus, Seizure, Limb h... |
OMIM:618076 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon |
ORPHA:275543 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Bulbous nose, Hydrocephalus, Optic atrophy, Simplified gyral pattern... |
OMIM:615219 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Seizure, Myoclonus, Decerebr... |
ORPHA:206436 |
Hemangioblastoma |
|
Neurogenic bladder, Hydrocephalus |
ORPHA:252054 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Seizure, Hypertonia, Hyperkinetic movements |
OMIM:236270 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Convex nasal ridge, Optic atrophy, Choanal atresia |
ORPHA:93262 |
Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus |
ORPHA:43116 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus, Facial palsy |
OMIM:613155 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Short stature, Periventricular heterotopia, Hydrocephalus, Optic atrophy,... |
OMIM:619833 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:616171 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus, Neonatal death |
OMIM:619055 |
Galloway-Mowat Syndrome 10 |
|
Myoclonus |
OMIM:619609 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Hydrocephalus, Gray matter heterotopia, Disproportionate short-limb short... |
ORPHA:2655 |
Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Japanese Encephalitis |
|
Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor... |
ORPHA:79139 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hydrocephalus, Short columella, Short nose |
ORPHA:171839 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Hydrocephalus, Short nose, Thick nasal alae, Dandy-Walker malformation |
ORPHA:163961 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Hoffmann sign, Dysmetria, Ankle clonus, Seiz... |
ORPHA:139396 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus |
OMIM:168601 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus |
OMIM:300886 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Depressed nasal bridge, Short stature, Hydrocephalus, Short nose |
OMIM:241800 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy |
OMIM:207950 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Seizure, Chorea, Hyperkinetic movements, Truncal ataxia |
ORPHA:369847 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic... |
OMIM:616973 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... |
ORPHA:157846 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Optic atrophy |
ORPHA:99947 |
Early Infantile Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset... |
ORPHA:1934 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nose, Bulbous nose, Hydrocephalus, Wide nasal... |
ORPHA:2180 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Gait ataxia, Seizure, Myoclonus |
OMIM:618321 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper limb spasticity |
ORPHA:457240 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Hydr... |
ORPHA:370959 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Generalized-onset seizure, Postural tremor, Action tremor, Gait ataxia, Myoclonus, Intention tremor |
OMIM:254900 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Short stature, Ventriculomegaly, Abnormal auditory evoked potentials |
OMIM:109120 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of the testis size |
ORPHA:649929 |
Dystonia-Aphonia Syndrome |
|
Seizure, Myoclonus |
ORPHA:412217 |
Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature, Depressed nasal bridge |
ORPHA:2635 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Wide nasal bridge |
ORPHA:380 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism |
OMIM:601794 |
Williams-Beuren Region Duplication Syndrome |
|
Short stature, Broad nasal tip, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly |
ORPHA:89844 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Hydrocephalus, Depressed nasal ridge, Intrauterine growth retardation,... |
ORPHA:163966 |
Angelman Syndrome |
|
Ataxia, Infantile spasms, Tremor, Seizure, Status epilepticus, Myoclonus, Atypical absence seizur... |
ORPHA:72 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Myoclonus |
OMIM:560000 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Wide nasal bridge, Spinal ... |
ORPHA:1908 |
Crouzon Syndrome |
|
Hydrocephalus, Convex nasal ridge, Optic atrophy, Choanal atresia |
ORPHA:207 |
Fatal Familial Insomnia |
|
Ataxia, Myoclonus |
OMIM:600072 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Seizure, Myoclonus, Myoclonic seizure |
OMIM:614946 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Action tremor |
OMIM:619738 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Optic nerve hypoplasia, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Low hanging columella |
OMIM:620157 |
Congenital Sialidosis Type 2 |
|
Ataxia, Dysmetria, Seizure, Myoclonus, Spasticity |
ORPHA:93400 |
Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hydrocephalus, Wide nasal bridge, Ventriculomegaly |
OMIM:175700 |
3C Syndrome |
|
Ventriculomegaly, Depressed nasal bridge, Short stature, Postnatal growth retardation, Hydrocepha... |
ORPHA:7 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Depressed nasal bridge, Hydrocephalus, Optic atrophy, Polymicrogyria, Ventriculomegaly |
ORPHA:60040 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Seizure, Spasticity, Hyperkinetic movements |
OMIM:300957 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Optic atrophy, Short stature, Facial palsy |
ORPHA:53 |
Glutathionuria |
|
Gray matter heterotopia |
OMIM:231950 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Myoclonic... |
OMIM:252160 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Seizure, Ataxia, Myoclonus |
ORPHA:98794 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Orofaciodigital Syndrome Type 3 |
|
Oculomotor apraxia, Spasticity, Myoclonus, Focal seizure with eyelid myoclonia |
ORPHA:2752 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Subcortical heterotopia, Agyria, Hydrocephalus, Gray matter heterotopia, Lissencep... |
OMIM:614643 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Seizure, Myoclonus, Gait ataxia |
ORPHA:70595 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Depressed nasal ridge, Short stature |
ORPHA:1861 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Polymicrogyria... |
OMIM:225790 |
Multiple Sulfatase Deficiency |
|
Anteverted nares, Short stature, Depressed nasal bridge, Hydrocephalus, Optic atrophy, Abnormalit... |
ORPHA:585 |
Walker-Warburg Syndrome |
|
Ventriculomegaly, Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Optic atrophy, Abnor... |
ORPHA:899 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele |
OMIM:164180 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Cryptorchidism, Hydrocephalus, Lissencephaly, Intrauterine growth retardation, ... |
OMIM:612938 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Anteverted nares |
OMIM:269920 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:218350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Optic atrophy, Lateral ventricle dilatati... |
OMIM:613154 |
Gorlin Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormality of t... |
ORPHA:377 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy... |
ORPHA:2211 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Babinski sign, Gait ataxia, Seizure, Hyperkinetic movements, Spasticity |
OMIM:620089 |
Desmosterolosis |
|
Severe short stature, Depressed nasal bridge, Abnormal cortical gyration, Abnormality of the nose... |
ORPHA:35107 |
Brain-Lung-Thyroid Syndrome |
|
Incoordination, Ataxia, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Myoclonus, Ap... |
ORPHA:209905 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Seizure, Hyperkinetic movements |
ORPHA:289522 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Hydrocephalus, Optic atrophy, Growth delay, Intrauterine growth retar... |
OMIM:614576 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Anteverted nares, Mild postnatal growth retardation, Short stature, Depressed nasal bridge, Broad... |
OMIM:101800 |
Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Ab... |
ORPHA:475 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth |
OMIM:276950 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial nerve compression, Hydrocephalus, Optic atrophy, Chronic rhinitis due to narrow nasal air... |
OMIM:259710 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Status epilepticus, Myocl... |
OMIM:301072 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Bulbous nose, Wide nasal bridge |
ORPHA:1237 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Generalized-onset seizure, Infantile spasms, Seizure, Athetosis, Hyperkinetic movements, Spasticity |
OMIM:612073 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Facial palsy, Dandy-Walker malformation |
OMIM:310400 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Ab... |
ORPHA:2318 |
Orofaciodigital Syndrome Iii |
|
Myoclonus |
OMIM:258850 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc... |
ORPHA:91348 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:617201 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Seizure, Myoclonus, Oculomotor apraxia |
ORPHA:247262 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Joubert Syndrome 14 |
|
Encephalocele, Prominent nasal bridge, Hydrocephalus, Meningocele, Optic atrophy, Growth delay, D... |
OMIM:614424 |
Leukodystrophy, Hypomyelinating, 10 |
|
Seizure, Spasticity, Babinski sign, Hyperkinetic movements |
OMIM:616420 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Seizure, Myoclonus |
ORPHA:251004 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon, Anteverted nares, Hydrocephalus, Short nose, Ventri... |
ORPHA:59315 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Depressed nasal bridge, Dandy-Walker malformation |
OMIM:220210 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Wa... |
OMIM:611134 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Po... |
ORPHA:220497 |
Craniopharyngioma |
|
Papilledema, Abnormal nasal bone morphology, Hypogonadotropic hypogonadism, Proportionate short s... |
ORPHA:54595 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Infantile spasms, Action tremor, Chorea, Oculomotor apraxia, Generalized non-motor (absence) seiz... |
ORPHA:404454 |
Whipple Disease |
|
Seizure, Abnormal pyramidal sign, Myoclonus, Ataxia |
ORPHA:3452 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Myoclonic spasms |
ORPHA:94090 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Slurred speech, Choreoathetosis, Seizure, Progressive cerebellar ataxia, Dysdiado... |
OMIM:208900 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Long nose, Wide nose, Communicating hydrocephalus |
ORPHA:2184 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Seizure, Hyperkinetic... |
ORPHA:391428 |
Pettigrew Syndrome |
|
Ventriculomegaly, Prominent nose, Aqueductal stenosis, Hydrocephalus, Optic atrophy, Dandy-Walker... |
OMIM:304340 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Bilateral cryptorchidism, Hydrocephalus, Growth delay, Intrauterine growth retar... |
ORPHA:2409 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Per... |
OMIM:619895 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Growth delay, Colpocephaly, Polymicrogyria, Ventriculomegaly |
OMIM:620156 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spasticity |
OMIM:618426 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Anteverted nares, Ventriculomegaly |
OMIM:616362 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Gray matter heterotopi... |
OMIM:617822 |
Optic Atrophy 11 |
|
Ataxia, Gait apraxia, Dysmetria, Seizure, Athetosis, Hyperkinetic movements |
OMIM:617302 |
Farber Disease |
|
Infantile spasms, Paraparesis, Seizure, Myoclonus, Spasticity |
ORPHA:333 |
Autoimmune Hypoparathyroidism |
|
Myoclonic spasms, Hypocalcemic seizures |
ORPHA:36913 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Periventricular heterotopia, Bulbous nose, Hydrocephalus, Optic atrophy, Dandy-... |
OMIM:618476 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Gray matter heterotopia, Disproportionate short-limb short stature, Neonatal death... |
OMIM:187600 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Myoclonus |
OMIM:256700 |
Trisomy 17P |
|
Wide nose, Short stature, Prominent nose, Hydrocephalus, Growth delay, Intrauterine growth retard... |
ORPHA:261290 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agyria, Hydrocephalus, Optic atrophy, Lissencephaly, Holoprosencephaly, Pachygyria... |
OMIM:253800 |
Thanatophoric Dysplasia Type 1 |
|
Depressed nasal bridge, Hydrocephalus, Gray matter heterotopia, Lethal short-limbed short stature... |
ORPHA:1860 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:615630 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Short stature, Depressed nasal bridge |
ORPHA:1064 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Prominent nose, Hydrocephalus, Wide nasal bridge, Growth delay |
OMIM:614886 |
Niemann-Pick Disease Type C |
|
Speech apraxia, Lower limb spasticity, Generalized-onset seizure, Ataxia, Tremor, Focal-onset sei... |
ORPHA:646 |
Primary Ciliary Dyskinesia |
|
Male infertility, Nasal polyposis, Female infertility, Hydrocephalus, Nasal congestion, Chronic r... |
ORPHA:244 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Ventriculomegaly, Anteverted nares, Short stature, Depressed nasal bridge, Postnatal g... |
OMIM:257300 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
Nmda Receptor Encephalitis |
|
Generalized-onset seizure, Involuntary movements, Rigidity, Focal-onset seizure, Chorea, Opisthot... |
ORPHA:217253 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Anteverted nares, Prominent nasal bridge, Optic nerve hypoplasia... |
OMIM:605627 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly |
OMIM:603387 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Po... |
ORPHA:220493 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Depressed nasal bridge, Hydrocephalus, Disproportionate short s... |
OMIM:616482 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Melas |
|
Abnormal central motor function, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Hem... |
ORPHA:550 |
Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
9P13 Microdeletion Syndrome |
|
Myoclonus, Hand tremor |
ORPHA:324313 |
Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Growth delay, Hypogonadism, Infertility, Intraut... |
ORPHA:96170 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ataxia, Babinski sign, Dysmetria, Gait ataxia, Seizure, Progressive gait ataxia, Myoclonus, Frequ... |
OMIM:607459 |
Immunodeficiency 23 |
|
Ataxia, Myoclonus, Cortical myoclonus |
OMIM:615816 |
B4Galt1-Cdg |
|
Hydrocephalus, Wide nasal bridge, Dandy-Walker malformation |
ORPHA:79332 |
Achondroplasia |
|
Anteverted nares, Rhizomelia, Depressed nasal bridge, Hydrocephalus, Disproportionate short statu... |
ORPHA:15 |
Multiple Sulfatase Deficiency |
|
Anteverted nares, Short stature, Hydrocephalus, Increased CSF protein concentration, Ventriculome... |
OMIM:272200 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Myoclonic spasms |
OMIM:252150 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Emanuel Syndrome |
|
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Recurrent sinusitis, Intrauterine growth retarda... |
OMIM:609029 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Neurogenic bladder, Short stature, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
OMIM:613686 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
Triploidy |
|
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growth retardation |
ORPHA:3376 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Disproportionate short-trunk short stature |
OMIM:613330 |
Peho Syndrome |
|
Anteverted nares, Hydrocephalus, Optic atrophy, Short nose, Ventriculomegaly |
ORPHA:2836 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epilepticus, Myoclonus, Tetra... |
OMIM:203700 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Spastic hemiparesis, Seizure, Myoclonus, Spasticity |
ORPHA:20 |
Congenital Disorder Of Deglycosylation 1 |
|
Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Seizure, Athetosis, Hyperkinetic mov... |
OMIM:615273 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Short stature |
ORPHA:31 |
Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration |
ORPHA:2481 |
Tetrasomy 5P |
|
Anteverted nares, Postnatal growth retardation, Hydrocephalus, Wide nasal bridge, Short nose |
ORPHA:3309 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Increased cup-to-disc ratio |
ORPHA:447788 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Myoclonus |
ORPHA:1352 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Hydrocephalus, Growth delay, Hypogonadism, Intrauterine growth re... |
OMIM:300514 |
Laurin-Sandrow Syndrome |
|
Underdeveloped nasal alae, Abnormality of the nose, Prominent nose, Hydrocephalus, Cryptorchidism... |
ORPHA:2378 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypertonia, Myoc... |
ORPHA:447997 |
Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Wide nasal bridge, Cryptorchidism |
ORPHA:2075 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Spastic paraparesis, Spasticity |
OMIM:609136 |
Developmental And Epileptic Encephalopathy 89 |
|
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Hypert... |
OMIM:619124 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Wide nasal bridge, Hydrocele testis, Short columella, Short... |
OMIM:613603 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Lissencephaly, Agyria, Type II lissencephaly |
OMIM:615249 |
Opsoclonus-Myoclonus Syndrome |
|
Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Opti... |
ORPHA:3301 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus, Bulbous nose, Anteverted nares, Wide nasal bridge |
OMIM:619320 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... |
ORPHA:306674 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aganglionic megacolon, Focal hypointensity of cerebral white matter on MRI, Optic atrophy, Hypopl... |
ORPHA:261552 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Cryptorchidism, Hydrocephalus, Optic a... |
ORPHA:1555 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Ataxia, Photosensitive tonic-clonic seizure, Seizure, Hyperkinetic movements, Truncal ataxia |
OMIM:300243 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Cryptorchidism, Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Short stature, Hydrocephalus, Dandy-Walker malformation |
ORPHA:459061 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Cryptorchidism, Hydrocephalus, Polymicrogyria, Ventriculomegaly |
ORPHA:1647 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Intrauterine growth retardation, Bulbous nose, Hydrocephalus, Narrow nasal ridge |
OMIM:612940 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Short stature, Cryptorchidism, Hydrocephalus, Meningocele, Short nasal bridge |
OMIM:130720 |
Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
OMIM:616294 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia |
OMIM:618974 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration |
ORPHA:2065 |
Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose |
OMIM:101600 |
Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormality of the sense of smell |
ORPHA:2189 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Trisomy 1Q |
|
Wide nose, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Ventriculomegaly |
ORPHA:261344 |
Tetrasomy 15Q26 |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Fg Syndrome Type 1 |
|
Short stature, Optic nerve hypoplasia, Choanal atresia, Prominent nose, Cryptorchidism, Hydroceph... |
ORPHA:93932 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Rabin-Pappas Syndrome |
|
Optic nerve hypoplasia, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Low hanging columella |
OMIM:620155 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Facial paralysis, Optic atrophy, Facial palsy |
OMIM:259700 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Long nose, Hydrocephalus, Optic atrophy, Short nose |
OMIM:618590 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
1Q44 Microdeletion Syndrome |
|
Growth delay, Hydrocephalus, Short stature, Ventriculomegaly |
ORPHA:238769 |
Pgm3-Cdg |
|
Seizure, Ataxia, Myoclonus, Cortical myoclonus |
ORPHA:443811 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Optic nerve hypopla... |
OMIM:236670 |
Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Fatigable weakness of skeletal muscles, Seizure, Hypertonia, Myoclonus, Fa... |
ORPHA:284339 |
Crouzon Syndrome |
|
Hydrocephalus, Deviated nasal septum, Optic atrophy |
OMIM:123500 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Short nose |
OMIM:239300 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Prominent nasal bridge, Hydrocephalus, Wide nasal bridge, Stillbirth, Sho... |
OMIM:243605 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Anteverted nares, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intrauterine growth ... |
OMIM:612863 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr... |
ORPHA:2671 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Short stature |
ORPHA:381 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Short stature, Facial palsy, Hydrocephalus, Optic atrophy, Growth delay, Still... |
OMIM:259720 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... |
OMIM:619297 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis |
OMIM:618699 |
Ethylene Glycol Poisoning |
|
Seizure, Slurred speech, Ataxia, Myoclonus |
ORPHA:31826 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Optic nerv... |
OMIM:615287 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movements, Myoclonus |
ORPHA:17 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Male infertility, Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Prominent nasal bridge, Hydrocephalus,... |
OMIM:123790 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Severe short stature, Short stature, Hydrocephalus, Mild short stature |
OMIM:309900 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Wide nasal bridge |
OMIM:601499 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Cryptorchidism, Hydrocephalus, Wide nasal bridge |
ORPHA:1865 |
Lathosterolosis |
|
Seizure, Myoclonus |
ORPHA:46059 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Hydrocephalus, Intraut... |
OMIM:616914 |
Tenorio Syndrome |
|
Wide nose, Anteverted nares, Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
Holoprosencephaly 7 |
|
Flat nasal alae, Alobar holoprosencephaly, Hydrocephalus, Absent nasal septal cartilage, Wide nas... |
OMIM:610828 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Short nose, Ventriculomegaly |
ORPHA:1812 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Anteverted nares, Prominent nasal bridge, Hydrocephalus, Optic disc colo... |
ORPHA:1454 |
Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus, Short nose |
ORPHA:93259 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Cryptorchidism, Hydrocephalus, Hypogonadism, Dilated third ventricle, Ventriculome... |
ORPHA:500055 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Cryptorchidism, Hydrocephalus, Depressed nasal bridge, Prominent nasal bridge |
OMIM:619951 |
Hurler Syndrome |
|
Anteverted nares, Short stature, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Growth... |
ORPHA:93473 |
Sialuria |
|
Seizure, Hyperkinetic movements |
ORPHA:3166 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Recurrent upper respiratory tract infections, Ventriculomegaly, Dandy-Walker malfo... |
OMIM:217090 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly |
OMIM:616538 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Polymicrogyria, Pachygyria, Abnormality of neuronal migration |
ORPHA:157 |
Diabetic Embryopathy |
|
Cryptorchidism, Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
Apert Syndrome |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Optic atrophy, Convex nasal ridge, Ventri... |
ORPHA:87 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Depressed nasal bridge, Dandy-Walker malformation |
OMIM:612582 |
Mucopolysaccharidosis Type 1 |
|
Depressed nasal bridge, Short stature, Abnormal nasal morphology, Hydrocephalus, Optic atrophy, T... |
ORPHA:579 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Optic atrophy, Growth delay, Lateral ventricle dilatation, Optic nerve compression |
OMIM:612301 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
Holoprosencephaly |
|
Encephalocele, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Cryptorc... |
ORPHA:2162 |
Jacobsen Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hydrocephalus, Optic atrophy, Holoprose... |
OMIM:147791 |
Leigh Syndrome |
|
Ataxia, Involuntary movements, Infantile spasms, Chorea, Spastic diplegia, Choreoathetosis, Seizu... |
ORPHA:506 |
Icf Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Short stature |
ORPHA:2268 |
H Syndrome |
|
Short stature, Recurrent pharyngitis, Hydrocephalus, Azoospermia, Hypogonadism, Chronic rhinitis,... |
ORPHA:168569 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... |
ORPHA:2839 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Short stature, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, H... |
OMIM:619321 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2518 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Hydrocephalus |
OMIM:617244 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hydrocephalus, Intrauterine growth... |
OMIM:617053 |
Monosomy 18Q |
|
Depressed nasal bridge, Short stature, Prominent nose, Bilateral cryptorchidism, Bulbous nose, Hy... |
ORPHA:1600 |
Chromosome 17P13.1 Deletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Spina bifida, Bulbous nose, Hyd... |
OMIM:613776 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Ataxia, Tremor, Chorea, Seizure, Athetosis, Hyperkinetic movements, Truncal ataxia |
OMIM:615356 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Hydrocephalus, Short nose, Ventriculomegaly |
OMIM:602398 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Periventricular heterotopia |
ORPHA:255138 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Severe short stature, Neonatal short-limb short stature, Hydrocephalus |
OMIM:224400 |
Mohr Syndrome |
|
Depressed nasal bridge, Short stature, Broad nasal tip, Bifid nasal tip, Hydrocephalus |
OMIM:252100 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Ataxia, Parkinsonism, Paraparesis, Babinski sign, Abnormal pyramidal sign, Spasti... |
ORPHA:909 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Cranial nerve compression, Hydroce... |
ORPHA:2356 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Depressed nasal bridge, Hydrocephalus, Optic dis... |
OMIM:608091 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Optic atrophy, Short stature |
ORPHA:220295 |
Endocrine-Cerebroosteodysplasia |
|
Focal polymicrogyria, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Holo... |
OMIM:612651 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Vocal cord paralysis, Seizure, Hyp... |
OMIM:617799 |
Autosomal Dominant Hypocalcemia |
|
Fatigable weakness, Cortical myoclonus |
ORPHA:428 |
Scorpion Envenomation |
|
Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Myoclonus |
ORPHA:466677 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Hydrocephalus, Growth delay, Sh... |
OMIM:616007 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Optic nerve hypoplasia, Short stature, Abnormal cortical gyration, Crypto... |
OMIM:610829 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Bulbous nose, Hydrocephalus, Wide nasal bridge, Intrauterine growt... |
ORPHA:250989 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
X-Linked Intellectual Disability, Snyder Type |
|
Generalized myoclonic seizure, Involuntary movements, Focal motor seizure, Myoclonus |
ORPHA:3063 |
Cardiofaciocutaneous Syndrome |
|
Anteverted nares, Short stature, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Optic atr... |
ORPHA:1340 |
Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Anteverted nares |
ORPHA:2306 |
Cardiofaciocutaneous Syndrome 1 |
|
Anteverted nares, Short stature, Depressed nasal bridge, Bulbous nose, Optic nerve dysplasia, Hyd... |
OMIM:115150 |
Dural Sinus Malformation |
|
Myelopathy, Papilledema, Hydrocephalus |
ORPHA:97339 |
Hurler Syndrome |
|
Anteverted nares, Short stature, Depressed nasal bridge, Broad nasal tip, Hydrocephalus, Wide nas... |
OMIM:607014 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:617397 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... |
OMIM:601390 |
Fraser Syndrome 3 |
|
Hydrocephalus, Wide nose, Stillbirth, Convex nasal ridge |
OMIM:617667 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus, Anteverted nares |
ORPHA:2969 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Short stature, Postnatal growth retardation, Hydrocephalus, Recurrent upper... |
OMIM:253220 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Short stature |
OMIM:602361 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Polymicrogyria, Pachygyria, Abnormality of neuronal migration |
ORPHA:228308 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Depressed nasal bridge, Choanal stenosis, Choanal atresia |
OMIM:207410 |
7Q11.23 Microduplication Syndrome |
|
Short stature, Broad nasal tip, Cryptorchidism, Hydrocephalus, Simplified gyral pattern, Growth d... |
ORPHA:96121 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Seizure, Myoclonus, Tetraplegia |
OMIM:618278 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Polymicrogyria |
OMIM:264480 |
Marshall-Smith Syndrome |
|
Anteverted nares, Short stature, Choanal atresia, Depressed nasal bridge, Optic nerve hypoplasia,... |
OMIM:602535 |
Distal Triplication 15Q |
|
Hydrocele testis, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
ORPHA:314588 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Short stature |
ORPHA:1834 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Hydrocephalus, Anencephaly, Occipital meningocele, Polymicrogyria, Ventri... |
OMIM:616546 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Optic atrophy, Ventriculomegaly |
ORPHA:395 |
Achondroplasia |
|
Depressed nasal bridge, Rhizomelia, Hydrocephalus, Choanal stenosis, Neonatal short-limb short st... |
OMIM:100800 |
Raine Syndrome |
|
Depressed nasal bridge, Short stature, Choanal atresia, Hydrocephalus, Choanal stenosis, Neonatal... |
OMIM:259775 |
Mend Syndrome |
|
Short stature, Prominent nasal bridge, Abnormal auditory evoked potentials, Cryptorchidism, Hydro... |
ORPHA:401973 |
Listeriosis |
|
Ataxia, Tremor, Hemiparesis, Seizure, Myoclonus |
ORPHA:533 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Hydrocephalus |
OMIM:314390 |
Congenital Myopathy 22A, Classic |
|
Neonatal death, Normal pressure hydrocephalus, Wide nasal bridge |
OMIM:620351 |
Pseudohypoparathyroidism Type 1B |
|
Myoclonic spasms, Hypocalcemic seizures |
ORPHA:94089 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Type II lissencephaly, Hydrocephalus, Pachygyria, Ventriculomegaly |
OMIM:613150 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Opitz-Kaveggia Syndrome |
|
Short stature, Choanal atresia, Prominent nose, Cryptorchidism, Hydrocephalus, Gray matter hetero... |
OMIM:305450 |
16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:261236 |
Aymé-Gripp Syndrome |
|
Depressed nasal bridge, Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalu... |
ORPHA:1272 |
Medulloblastoma |
|
Hydrocephalus, Abnormal cranial nerve morphology |
ORPHA:616 |
Man1B1-Cdg |
|
Periventricular heterotopia |
ORPHA:397941 |
Joubert Syndrome 1 |
|
Oculomotor apraxia, Hemifacial spasm, Ataxia |
OMIM:213300 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Oromandibular Dystonia |
|
Blepharospasm, Torticollis, Hyperkinetic movements |
ORPHA:93958 |
Tick-Borne Encephalitis |
|
Speech apraxia, Generalized-onset seizure, Incoordination, Paralysis, Tremor, Focal-onset seizure... |
ORPHA:297 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Periventricular heterotopia |
OMIM:614105 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus, Optic nerve compression, Hypogonadotropic hypogonadism |
ORPHA:91350 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia |
OMIM:619312 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Short stature |
ORPHA:2720 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Bulbous nose, Anteverted nares |
ORPHA:1780 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Depressed nasal bridge, Wide nasal bridge |
OMIM:104350 |
Cockayne Syndrome A |
|
Slender nose, Short stature, Abnormal auditory evoked potentials, Prominent nose, Decreased nerve... |
OMIM:216400 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia |
ORPHA:531151 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation |
ORPHA:3412 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Narrow nasal ridge, Aqueductal stenosis, Cryptorchidism, Bulbous nose, Hydrocephalus, Optic atrop... |
OMIM:619512 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature |
ORPHA:2050 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Depressed nasal bridge, Anteverted nares, Postnatal growth retardation, Hydrocephalus, Peripapill... |
ORPHA:536467 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Polymicrogyria |
ORPHA:65285 |
Dubowitz Syndrome |
|
Depressed nasal bridge, Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalu... |
ORPHA:235 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, Short stature, Hydrocephalus, Lateral ventricle dilatation, Dilated third... |
OMIM:619575 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polymicrogyria, Abnormality of neuronal migration |
OMIM:608836 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Neurogenic bladder, Epistaxis |
ORPHA:137667 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short n... |
OMIM:618188 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Apert Syndrome |
|
Depressed nasal bridge, Choanal atresia, Cryptorchidism, Hydrocephalus, Rhizomelic arm shortening... |
OMIM:101200 |
Neurooculorenal Syndrome |
|
Postnatal growth retardation, Aqueductal stenosis, Hydrocephalus, Cryptorchidism, Polymicrogyria,... |
OMIM:620305 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Postnatal growth retardation, Cr... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Postnatal growth retardation, Cr... |
ORPHA:363958 |
Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:58 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:619775 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
15Q Overgrowth Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Wide nasal bridge, Dandy-Walker malformation |
ORPHA:314585 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Postnatal growth retardation, Hypoglycorrhachia, Short stature, Communicating hydrocephalus |
ORPHA:168577 |
Vici Syndrome |
|
Gray matter heterotopia |
ORPHA:1493 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Growth delay, Intrauterine growth retardation |
OMIM:614083 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Depressed nasal bridge, Choanal atresia, Cryptorchidism, Bulbous nose, Hydrocephalus, Decreased f... |
ORPHA:95699 |
Pseudohypoparathyroidism Type 1A |
|
Choreoathetosis, Myoclonic spasms, Involuntary movements, Hypocalcemic seizures |
ORPHA:79443 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration |
ORPHA:192 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly, Neonatal death, Intrauterine growth retardation |
OMIM:269860 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Rhizomelia, Short stature, Hydrocephalus, Depressed nasal bridge |
OMIM:245600 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short stature, Choanal atresia, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Overhan... |
ORPHA:163979 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration |
ORPHA:163681 |
Sturge-Weber Syndrome |
|
Hydrocephalus, Optic atrophy |
ORPHA:3205 |
Fanconi Anemia |
|
Short stature, Choanal atresia, Aganglionic megacolon, Spina bifida, Cryptorchidism, Hydrocephalu... |
ORPHA:84 |
Mend Syndrome |
|
Short stature, Prominent nasal bridge, Cryptorchidism, Hydrocephalus, Bulbous nose, Dandy-Walker ... |
OMIM:300960 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Short stature, Prominent nasal bridge, Aqueductal stenosis, Hydrocephalus,... |
OMIM:154400 |
Orofaciodigital Syndrome I |
|
Short stature, Abnormal cortical gyration, Underdeveloped nasal alae, Hydrocephalus, Myelomeningo... |
OMIM:311200 |
Pseudohypoparathyroidism Type 1C |
|
Myoclonic spasms, Hypocalcemic seizures |
ORPHA:79444 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:247200 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Meckel Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Optic atrophy, Depressed nasal ridge, Anencephaly, ... |
ORPHA:564 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Anteverted nares, Optic nerve hypoplasia, Ventriculomegaly |
ORPHA:457284 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:974 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Anteverted nares, Abnormal cortical gyration, Prominent nose, Cryptorchidism, Hydrocephalus, Disp... |
OMIM:210710 |
Cryptococcosis |
|
Hydrocephalus, Prostatitis, Abnormal cranial nerve morphology |
ORPHA:1546 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Absent nares, Holoprosencephaly |
ORPHA:2166 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Rhizomelia, Allergic rhinitis |
OMIM:618162 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Depressed nasal bridge, Myelomeningocele, Hydrocephalus, Short nose |
ORPHA:90652 |
Mucopolysaccharidosis, Type Vi |
|
Depressed nasal bridge, Short stature, Hydrocephalus, Recurrent upper respiratory tract infection... |
OMIM:253200 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Severe short stature, Choanal atresia, Facial palsy, Cryptorchidism, Hydrocephalus, Hypogonadism |
ORPHA:2658 |
Cockayne Syndrome B |
|
Slender nose, Severe short stature, Prominent nasal bridge, Abnormal auditory evoked potentials, ... |
OMIM:133540 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Epileptic spasm, Exaggerated startle response, Involuntary movements, Seizure, Myoclonus, Bilater... |
ORPHA:438213 |
Osteopathia Striata With Cranial Sclerosis |
|
Short stature, Facial palsy, Hydrocephalus, Wide nasal bridge, Spina bifida occulta |
OMIM:300373 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Periventricular heterotopia |
OMIM:618870 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Seizure, Spasticity, Myoclonus |
OMIM:253280 |
Poliomyelitis |
|
Paralysis, Paraparesis, Hyperkinetic movements, Fasciculations, Fatigable weakness of respiratory... |
ORPHA:2912 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Anteverted nares |
OMIM:182212 |
Meningioma |
|
Hemifacial spasm, Abnormal central motor function, Ataxia, Focal-onset seizure, Hemiparesis, Seizure |
ORPHA:2495 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Optic atrophy |
ORPHA:79282 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Fraser Syndrome 1 |
|
Encephalocele, Wide nose, Cleft ala nasi, Depressed nasal bridge, Abnormal cortical gyration, Und... |
OMIM:219000 |
Distal 22Q11.2 Microduplication Syndrome |
|
Wide nose, Cryptorchidism, Bulbous nose, Optic disc coloboma, Depressed nasal ridge, Hydrocephalus |
ORPHA:261337 |
Smith-Lemli-Opitz Syndrome |
|
Anteverted nares, Short stature, Aganglionic megacolon, Depressed nasal bridge, Periventricular h... |
OMIM:270400 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Disproportionate short stature, Rhizomelia |
OMIM:260660 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Peters Plus Syndrome |
|
Rhizomelia, Short stature, Anteverted nares, Depressed nasal bridge, Postnatal growth retardation... |
ORPHA:709 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia |
ORPHA:26791 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short nose, Optic atrophy, Hydrocephalus |
ORPHA:505248 |
22Q11.2 Deletion Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Short stature, Choanal atresia, Spina bifida, Cryp... |
ORPHA:567 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Hypoplasia of the corpus callosum |
ORPHA:369950 |
Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Short stature, Cryptorchidism, Hydrocephalus, Optic atrophy |
ORPHA:1106 |
Trisomy 8P |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hydrocephalus, Recurrent upper respirat... |
ORPHA:264450 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria |
OMIM:620024 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lobar holoprosencephaly, Lisse... |
ORPHA:468631 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Hydrocephalus, Optic atrophy, Thick nasal alae, Ventriculomegaly |
ORPHA:581 |
Hajdu-Cheney Syndrome |
|
Wide nose, Anteverted nares, Short stature, Cryptorchidism, Hydrocephalus |
OMIM:102500 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Chordee, Short stature, Colpocephaly |
OMIM:309801 |
Monosomy 9Q22.3 |
|
Short nose, Hydrocephalus, Ventriculomegaly |
ORPHA:77301 |
Alobar Holoprosencephaly |
|
Short stature, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Growth delay, Neura... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Growth delay, Neura... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Growth delay, Neura... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Short stature, Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Growth delay, Neura... |
ORPHA:220386 |
Pagod Syndrome |
|
Encephalocele, Meningocele, Abnormality of neuronal migration, Spina bifida |
ORPHA:991 |
6Q Terminal Deletion Syndrome |
|
Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration, Periventricular heter... |
ORPHA:75857 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Periventricular heterotopia |
OMIM:618929 |
Kabuki Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, Short columella, Ventriculomegaly |
ORPHA:2322 |
Choreoacanthocytosis |
|
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Bilateral tonic-... |
ORPHA:2388 |
Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Prominent nasal bridge, Optic nerve hypoplasia, Underdevelop... |
OMIM:218600 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia |
OMIM:605039 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Spontaneous, recurrent epistaxis, Hydrocephalus, Growth delay, Azoospermia, Delayed ... |
ORPHA:2072 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Cryptorchidism, Hydrocephalu... |
OMIM:249000 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Gray matter heterotopia, Periventricular nodular heterotopia |
OMIM:603671 |
Fontaine Progeroid Syndrome |
|
Depressed nasal bridge, Short stature, Periventricular heterotopia, Cryptorchidism, Hydrocephalus... |
OMIM:612289 |
Tetrasomy 9P |
|
Cryptorchidism, Bulbous nose, Hydrocephalus, Polymicrogyria, Oligozoospermia, Lissencephaly, Infe... |
ORPHA:3310 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:214100 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus, Depressed nasal bridge |
ORPHA:1571 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Bifid nose |
ORPHA:268249 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Eosinophilia, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocyt... |
ORPHA:228123 |
Pediatric-Onset Graves Disease |
|
Tremor, Hyperkinetic movements |
ORPHA:525731 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Bifid nose, Midline... |
OMIM:236680 |
Hajdu-Cheney Syndrome |
|
Wide nose, Anteverted nares, Short stature, Hydrocephalus, Wide nasal bridge, Delayed puberty |
ORPHA:955 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Hydrocephalus, Hypergonadotropic hypogonadism, Short stature |
OMIM:227646 |
Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Facial palsy, Bilateral vestibular schwannoma |
ORPHA:637 |
Limb Body Wall Complex |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Hydroceph... |
ORPHA:2369 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Anteverted nares, Ventriculomegaly |
ORPHA:2462 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Short stature, Prominent nasal bridge, Anteve... |
OMIM:619841 |
Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration |
ORPHA:2754 |
Bilateral Perisylvian Polymicrogyria |
|
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per... |
ORPHA:98889 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Wide nasal bridge, Spina bifida |
OMIM:109400 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Hydrocephalus, Optic nerve compression, Chronic rhinitis |
ORPHA:667 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Growth delay, Communicating hydrocephalus |
OMIM:616084 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Papilledema, Wide nose, Short stature, Decreased nerve conduction ve... |
ORPHA:580 |
Hypoplasminogenemia |
|
Cervicitis, Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Anteverted nares, Bulbous nose, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Delayed pu... |
OMIM:619475 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hydrocephalus, Depressed nasal tip, Stillbirth, Intrauterine growth retardation |
OMIM:208150 |
Dextrocardia |
|
Hydrocephalus |
ORPHA:1666 |
Aicardi Syndrome |
|
Gray matter heterotopia, Pachygyria, Polymicrogyria, Spina bifida |
OMIM:304050 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
Doors Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure |
ORPHA:79500 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Spina bifida, Hydrocephalus, Recurrent upper respiratory tract infections... |
OMIM:114290 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Depressed nasal bridge, Cryptorchidism, Hydrocephalus, Optic disc coloboma, Op... |
OMIM:607872 |
Coffin-Siris Syndrome 12 |
|
Anteverted nares, Prominent nasal bridge, Short stature, Facial palsy, Depressed nasal bridge, Un... |
OMIM:619325 |
Costello Syndrome |
|
Anteverted nares, Short stature, Depressed nasal bridge, Hydrocephalus, Vestibular schwannoma, Ve... |
OMIM:218040 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida |
OMIM:162200 |
Pseudoaminopterin Syndrome |
|
Cryptorchidism, Hydrocephalus, Short stature, Prominent nasal bridge |
ORPHA:221120 |
Wolf-Hirschhorn Syndrome |
|
Short stature, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Growth delay, Severe postnatal g... |
OMIM:194190 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia |
ORPHA:314679 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Optic atrophy |
ORPHA:137675 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid cerebral palsy |
ORPHA:522077 |
Marden-Walker Syndrome |
|
Growth delay, Intrauterine growth retardation, Hydrocephalus, Severe short stature |
ORPHA:2461 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Kabuki Syndrome 1 |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Wide nasal bridge, De... |
OMIM:147920 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
Yunis-Varon Syndrome |
|
Narrow nasal base, Anteverted nares, Short stature, Postnatal growth retardation, Cryptorchidism,... |
ORPHA:3472 |
16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia |
ORPHA:261250 |
Lymphangioleiomyomatosis |
|
Hydrocephalus, Optic atrophy |
ORPHA:538 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Wide nose, Severe short stature, Hydrocephalus, Wide nasal bridge, Growth delay, Abnormal testis ... |
ORPHA:2556 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Optic disc pallor, Depressed nasal bridge |
ORPHA:309282 |
Osteogenesis Imperfecta |
|
Rhizomelia, Short stature, Hydrocephalus, Noncommunicating hydrocephalus, Growth delay, Intrauter... |
ORPHA:666 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration |
ORPHA:464311 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Cleft ala nasi, Short stature, Broad nasal tip, Cryptorchidism, Hydrocephalu... |
OMIM:305600 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia |
ORPHA:453499 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Prominent nasal bridge, Ventriculomegaly |
OMIM:617011 |
Wiedemann-Rautenstrauch Syndrome |
|
Anteverted nares, Short stature, Depressed nasal bridge, Narrow nasal ridge, Cryptorchidism, Hydr... |
OMIM:264090 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Polymicrogyria, Holoprosencephaly |
OMIM:618820 |
Wiedemann-Rautenstrauch Syndrome |
|
Short stature, Wide nasal ridge, Anteverted nares, Hypogonadotropic hypogonadism, Cryptorchidism,... |
ORPHA:3455 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia |
OMIM:618733 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Short stature, Hypogonadism |
ORPHA:3042 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus, Single naris, Choanal atresia |
OMIM:273395 |
Otopalatodigital Syndrome, Type Ii |
|
Depressed nasal bridge, Short stature, Spina bifida, Postnatal growth retardation, Cryptorchidism... |
OMIM:304120 |
Split Cord Malformation |
|
Neurogenic bladder, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, H... |
ORPHA:573278 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia |
OMIM:276300 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Agenesis of pineal gland, Optic disc coloboma, Optic nerve hypoplasia |
ORPHA:536471 |
Arima Syndrome |
|
Gray matter heterotopia, Occipital meningocele |
OMIM:243910 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion |
ORPHA:69665 |
Gaucher Disease |
|
Hydrocephalus, Short stature, Ventriculomegaly, Delayed puberty |
ORPHA:355 |
Vici Syndrome |
|
Gray matter heterotopia |
OMIM:242840 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
Roberts-Sc Phocomelia Syndrome |
|
Underdeveloped nasal alae, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Frontal e... |
OMIM:268300 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Prominent nasal bridge, Ventriculomegaly |
ORPHA:457359 |
Neurofibromatosis Type 1 |
|
Cryptorchidism, Hydrocephalus, Short stature, Delayed puberty |
ORPHA:636 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Myelomeningocele, Hydrocephalus |
OMIM:306955 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia |
ORPHA:352665 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Periventricular heterotopia, Simplified gyral pattern, Holoprosencephaly... |
OMIM:615948 |
Peters-Plus Syndrome |
|
Rhizomelia, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Birth length less than 3... |
OMIM:261540 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume |
ORPHA:769 |
Oeis Complex |
|
Cryptorchidism, Myelomeningocele, Hydrocephalus |
OMIM:258040 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction |
ORPHA:322 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anteverted nares, Short stature, Depressed nasal bridge, Aqueductal stenosis, Hydrocephalus, Late... |
OMIM:619534 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Short... |
OMIM:312870 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus, Facial paralysis, Peripapillary atrophy |
OMIM:175780 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Short stature |
ORPHA:363700 |
Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Holoprosencephaly, Choanal atresia, Cryptorchidism |
OMIM:107480 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus |
OMIM:610168 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
Orofaciodigital Syndrome Type 14 |
|
Periventricular heterotopia |
ORPHA:434179 |
Genitopatellar Syndrome |
|
Pachygyria, Periventricular heterotopia |
OMIM:606170 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Polymicrogyria, Periventricular heterotopia |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Polymicrogyria, Periventricular heterotopia |
ORPHA:2152 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:164210 |