Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
T cell acute lymphocytic leukemia 2
Synonyms:
bHLHa19

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tal2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tal2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukemia, Acute Lymphoblastic
OMIM:613065

The table below shows human diseases predicted to be associated to Tal2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Attention deficit hyperactivity disorder, Pachygyria, Abnormal caudate n... ORPHA:300573
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Agenesis of corpus callosum, Fusion of the left and right thalami, Abnormality of the anterior co... OMIM:617542
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic seizure,... ORPHA:101071
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure, Cortic... OMIM:615763
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Focal-onset seizure, Hypoplasia of the corpus callosum, Cerebral cor... OMIM:619072
Microphthalmia-Brain Atrophy Syndrome
Multifocal seizures, Corpus callosum atrophy, Focal hyperkinetic seizure, Diffuse cerebral atroph... ORPHA:77299
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... ORPHA:178469
Bilateral Generalized Polymicrogyria
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... ORPHA:208447
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Colpocephaly, Agenesis of corpus callosum, Bilateral tonic-clonic se... ORPHA:250972
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Seizure, Agenesi... ORPHA:2182
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:618730
Phosphoserine Phosphatase Deficiency
Cerebral atrophy, Postnatal growth retardation, Seizure, Intrauterine growth retardation, Microce... OMIM:614023
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Abnormality of the basal ganglia, Decreased thalamic volume, Hypopla... OMIM:618646
Neuroferritinopathy
T2 hypointense thalamus, Dystonia, Abnormal caudate nucleus morphology, Palatal myoclonus, Diffic... ORPHA:157846
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormality of thalamus morphology, Gait disturbance, Se... ORPHA:88619
Hydrocephalus, Congenital, 1
Seizure, Ventriculomegaly, Hydrocephalus OMIM:236600
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Limb ataxia, Bradykinesia, Seizure, Basal ganglia calcification, Generali... OMIM:618824
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Inability to walk, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomega... OMIM:616486
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Ataxia, Seizure, Abnormal corpus callosum morphology, Cortical dysplasia, Micro... OMIM:618709
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Seizure, Cerebral cortical atrophy, ... OMIM:617862
L1 Syndrome
Seizure, Gait disturbance, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure, Polymicrogyria, Hemimegalencephaly,... OMIM:615937
Alexander Disease
Seizure, Increased CSF protein, Hydrocephalus, Ataxia OMIM:203450
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Gait disturbance, Seizure, Cerebral c... OMIM:618193
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Dystonia, Agenesis of corpus callosum, Hydrocephalus, Focal-onset se... OMIM:619302
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum OMIM:307000
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Agenesis of corpus callosum, Akinesia, Ventriculomegaly, Seizure, Hy... OMIM:225790
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Agenesis o... ORPHA:79243
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Ata... OMIM:611603
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Growth delay, Cerebral atrophy, Seizure, Dy... ORPHA:135
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Ventriculomegaly, Molar tooth sign on MRI, Truncal ataxia OMIM:617761
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Seizure precipitated by febrile infection, Bilateral ... ORPHA:363558
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, A... ORPHA:2382
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Dystonia, Type II lissencephaly, Postnatal growth retardation, Torti... ORPHA:300570
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Seizure, Dilated third ventricle, Diffuse cerebral atrophy, Scissor gait, Dilation ... ORPHA:363654
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Seizure, Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Increased CSF lactate, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:565624
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Abnormal cerebral white matter morphology, Se... ORPHA:352682
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Hypoplasia of the brainstem, Ventriculomegaly, Ataxia, Seizure, Unsteady gait,... OMIM:618273
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Myoclonic seizure, Tonic seizure, Focal motor seizure, Microce... OMIM:618890
Corpus Callosum Agenesis-Neuronopathy Syndrome
Seizure, Microcephaly, Agenesis of corpus callosum, Aqueductal stenosis ORPHA:1496
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure, Dysplastic corpus callosum, Polymic... OMIM:604213
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Statu... OMIM:618606
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the brainstem, Dystonia, Agenesis of corpus callosum, Focal-onset seizure, Bilatera... OMIM:619301
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Difficulty walking, Bradykinesia, Cerebral cortical hemiatrophy, Dilation of lateral ve... ORPHA:306669
Slc35A2-Cdg
Inability to walk, Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the... ORPHA:356961
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Lissencephaly 5
Hypoplasia of the brainstem, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus ... OMIM:615191
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Growth delay, Cerebral atrophy, Severe short stature, Myoc... OMIM:619057
Atypical Teratoid Rhabdoid Tumor
Seizure, Ataxia, Hydrocephalus, Cerebral calcification ORPHA:99966
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Hypoplasia of the pons, Atonic seizure, Ventriculomegaly, Seizure, C... ORPHA:101070
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Seizure, Polymicrogyria, Subcortical band heterotopia, Agenesis ... OMIM:600348
Arnold-Chiari Malformation Type Ii
Agenesis of corpus callosum, Brain stem compression, Difficulty walking, Ventriculomegaly, Aquedu... ORPHA:1136
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Episodic ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly... ORPHA:420179
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Increased CSF lactate, Ventriculomegaly, Hypoplasia of the corpus ca... ORPHA:255182
Papilloma Of Choroid Plexus
Seizure, Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Wars2-Related Combined Oxidative Phosphorylation Defect
Multifocal seizures, Hypoplasia of the brainstem, Abnormal periventricular white matter morpholog... ORPHA:572798
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Agenesis of corpus callosum, Typ... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of ... OMIM:613154
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Growth delay, Gait imbalance, Bilateral tonic-clo... ORPHA:488635
Rare Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Difficulty walking, Hypoplasia of the corpus callosum, Hypopl... ORPHA:101685
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Cerebral atrophy, Bilateral... OMIM:607208
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Ventriculomegaly, Aqueductal stenosis OMIM:600907
Joubert Syndrome 36
Seizure, Molar tooth sign on MRI OMIM:618763
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Dy... ORPHA:70474
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Dilation of lateral ventricl... ORPHA:284417
Gómez-López-Hernández Syndrome
Ataxia, Abnormal brainstem morphology, Hydrocephalus, Short stature ORPHA:1532
Pineocytoma
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251912
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplas... ORPHA:2822
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Abnormal midbrain morphology, Megalencephaly, Abnormal corp... ORPHA:280195
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Torticollis, Leukoencephalopathy OMIM:613724
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Seizure, Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy, ... ORPHA:2703
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Methylmalonic Acidemia With Homocystinuria
Lethargy, Gait disturbance, Seizure, Microcephaly, Hydrocephalus ORPHA:26
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensit... ORPHA:488627
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Bilateral tonic-clonic seizure, Cortical dysplasia, Short stature, ... OMIM:608278
Japanese Encephalitis
Abnormality of thalamus morphology, Dystonia, Focal T2 hyperintense thalamic lesion, Abnormality ... ORPHA:79139
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Seizure, Dilated fourth ventricle, Polymicrogyria, Microcephal... OMIM:617751
Lissencephaly, X-Linked, 1
Pachygyria, Postnatal growth retardation, Ataxia, Seizure, Agyria, Agenesis of corpus callosum, L... OMIM:300067
Joubert Syndrome 27
Molar tooth sign on MRI, Ataxia OMIM:617120
Cog5-Cdg
Truncal ataxia, Cerebral white matter atrophy, Seizure, Short stature, Intrauterine growth retard... ORPHA:263487
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Polymicrogyria, Bilateral Frontoparietal
Hypoplasia of the brainstem, Truncal ataxia, Ventriculomegaly, Frontal polymicrogyria, Seizure, C... OMIM:606854
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Achondroplasia
Brain stem compression, Rhizomelia, Megalencephaly, Hydrocephalus, Neonatal short-limb short stature OMIM:100800
Severe X-Linked Intellectual Disability, Gustavson Type
Seizure, Dilated fourth ventricle, Myoclonus, Severe postnatal growth retardation, Microcephaly, ... ORPHA:3078
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Diffuse white matter abnormalities, Hypointensity of cer... ORPHA:83597
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Seizure, Small cerebral cortex, Abnormal cortical gyration, Colp... ORPHA:2185
Combined Oxidative Phosphorylation Defect Type 23
Seizure, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity, Abnorma... ORPHA:444013
Brain Small Vessel Disease 2
Porencephalic cyst, Focal-onset seizure, Ventriculomegaly, Growth delay, Bilateral tonic-clonic s... OMIM:614483
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormality of the basal ganglia, Abnormal brainste... ORPHA:99852
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Inability to walk, Difficulty walking, Hypoplasia of the... ORPHA:254930
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Focal-onset seizu... ORPHA:2148
Hydranencephaly
Dysgenesis of the thalamus, Lethargy, Abnormal corpus striatum morphology, Hypoplastic hippocampu... ORPHA:2177
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Joubert Syndrome 30
Seizure, Ventriculomegaly, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:617622
Galloway-Mowat Syndrome
Pachygyria, Aqueductal stenosis, Seizure, Short stature, Intrauterine growth retardation, Microce... ORPHA:2065
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis OMIM:276950
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Truncal ataxia, Hydroceph... OMIM:220200
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Cerebral calcification, Aqueductal stenosis ORPHA:3035
D-2-Hydroxyglutaric Aciduria 1
Seizure, Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ... OMIM:600721
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Joubert Syndrome 25
Molar tooth sign on MRI, Ataxia OMIM:616781
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia OMIM:617767
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Short stature, Microcephaly, Agenesis of corpus callosum, Shuffl... OMIM:303350
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, T2 hypointense thalamus, Gait ataxia, Cerebral atrophy, Bilateral tonic-clonic... ORPHA:1947
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Difficulty walking, Focal-onset seizure, Delayed menarche, Bilateral... ORPHA:330050
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Seizure, Abnormality of the diencephalon, Abnormal brainstem morphology, Short stature, H... ORPHA:2720
Developmental And Epileptic Encephalopathy 36
Seizure, Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:300884
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Fusion of the left and right thal... OMIM:619306
Fanconi Anemia, Complementation Group R
Microcephaly, Growth delay, Hydrocephalus OMIM:617244
Episodic Ataxia, Type 9
Dystonia, Episodic ataxia, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilep... OMIM:618924
X-Linked Intellectual Disability, Wilson Type
Seizure, Microcephaly, Growth delay, Dilation of lateral ventricles ORPHA:85290
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Truncal ataxia, Atonic seizure, Absence seizure with eyelid myoclonia, Abnormal cere... OMIM:618587
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Bilateral tonic-clonic seizure, Dilation of lateral ventricles OMIM:619278
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Seizure, Myoclonus, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-... OMIM:617281
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (ab... OMIM:619157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Ventriculomegaly, Abnormal cerebr... OMIM:613153
Peroxisome Biogenesis Disorder 6A (Zellweger)
Seizure, Pachygyria, Colpocephaly OMIM:614870
Aicardi-Goutieres Syndrome 4
Dystonia, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Seizure, Cerebral cal... OMIM:610333
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Abnormal cereb... ORPHA:79264
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized cerebral atrophy/hypop... ORPHA:36387
Central Neurocytoma
Lethargy, Hydrocephalus, Ataxia, Cerebral calcification, Abnormal lateral ventricle morphology ORPHA:73256
Acrofacial Dysostosis, Rodríguez Type
Intrauterine growth retardation, Arrhinencephaly, Aqueductal stenosis ORPHA:1788
Continuous Spikes And Waves During Sleep
Dystonia, Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic ... ORPHA:725
Alg13-Cdg
Infantile spasms, Abnormal lateral ventricle morphology ORPHA:324422
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Atonic seizure, Bilate... OMIM:618873
Familial Focal Epilepsy With Variable Foci
Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile seizure, Polymi... ORPHA:98820
Joubert Syndrome 9
Seizure, Ventriculomegaly, Molar tooth sign on MRI OMIM:612285
Glutamine Deficiency, Congenital
Seizure, Subependymal cysts, Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:610015
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Ventriculomegaly, Aqueductal stenosis OMIM:600906
Meckel Syndrome, Type 10
Seizure, Molar tooth sign on MRI, Anencephaly OMIM:614175
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Dilation of lateral ventricles, Rhizo... ORPHA:397715
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Bilateral tonic-clonic seizure... ORPHA:435638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly... OMIM:615287
Joubert Syndrome 10
Growth delay, Molar tooth sign on MRI OMIM:300804
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Status epilepticus, Increased CSF lactate, Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Dystonia, Ag... ORPHA:506
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased CSF lactate, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Short stature OMIM:619065
Pettigrew Syndrome
Gait ataxia, Ventriculomegaly, Seizure, Abnormality of the basal ganglia, Cerebral calcification,... OMIM:304340
Hereditary Cryohydrocytosis With Reduced Stomatin
Cerebral white matter hypoplasia, Intracerebral periventricular calcifications, Postnatal growth ... ORPHA:168577
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Seizure, Abnormal brainstem morphology, Hydrocephalus, Dandy-Walker malformatio... ORPHA:163961
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Ve... OMIM:619229
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Aplasia/Hypoplasia of the corpus c... ORPHA:263516
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions, Short... ORPHA:557003
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:609583
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Coach Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Pyridoxine-Dependent Epilepsy
Atonic seizure, Ventriculomegaly, Focal-onset seizure, Hypoplasia of the corpus callosum, Bilater... ORPHA:3006
Paganini-Miozzo Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Dilation of lateral ventricles OMIM:301025
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Focal-onset seizure, Hypoplastic hippocampus, Myoclonic absence seiz... OMIM:619317
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Cerebral cortical atrophy, Hydranen... ORPHA:2570
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Seizure, Hydrocephalus ORPHA:1008
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
Hsd10 Disease
Ventriculomegaly, Gait disturbance, Postnatal growth retardation, Frontotemporal cerebral atrophy... ORPHA:391417
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Joubert Syndrome 22
Intrauterine growth retardation, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Temp... OMIM:615665
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria, Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Dysmetria, Attention defic... OMIM:619191
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, B... ORPHA:485350
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Adult Krabbe Disease
Abnormal midbrain morphology, Gait disturbance, Ataxia, Abnormal corpus callosum morphology, Incr... ORPHA:206448
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Intrauterine growth retardation, Mic... OMIM:611134
Linear Skin Defects With Multiple Congenital Anomalies 3
Seizure, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Meckel Syndrome 13
Molar tooth sign on MRI, Ataxia OMIM:617562
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Falls, F... ORPHA:139426
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bilateral tonic-clonic sei... OMIM:300423
Joubert Syndrome 18
Intrauterine growth retardation, Molar tooth sign on MRI OMIM:614815
Frontal Encephalocele
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Seizure, Cerebral calcification, Hydroce... ORPHA:1931
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Seizure, Lobar holopros... OMIM:609637
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Ataxia, Bradykinesia, Short ... OMIM:617836
Foxg1 Syndrome
Inability to walk, Dystonia, Pachygyria, Agenesis of corpus callosum, Difficulty walking, Focal-o... ORPHA:561854
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Cerebral white matter atrophy, Difficulty walking, Hypoplasia of the corpus callosum, C... ORPHA:464282
Joubert Syndrome 7
Hypoplasia of the brainstem, Brainstem dysplasia, Ataxia, Abnormal corpus callosum morphology, Mo... OMIM:611560
Landau-Kleffner Syndrome
Generalized clonic seizure, Gait ataxia, Non-convulsive status epilepticus without coma, Bilatera... ORPHA:98818
Joubert Syndrome 32
Polymicrogyria, Molar tooth sign on MRI, Ataxia OMIM:617757
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... OMIM:615369
Distal Monosomy 10Q
Cavum septum pellucidum, Postnatal growth retardation, Ataxia, Seizure, Unsteady gait, Spina bifi... ORPHA:96148
Glutaric Acidemia I
Seizure, Dystonia, Dilation of lateral ventricles OMIM:231670
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypoplasia of the corpus callosum, Microcephaly, Secondary microcephaly, Bilateral tonic-clonic s... OMIM:616281
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Hypointensity of cerebral white matter on MRI, Seizure precipitated by febrile infection, Bilater... ORPHA:363549
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Rhombencephalosynapsis
Ventriculomegaly, Fusion of the left and right thalami, Ataxia, Septo-optic dysplasia, Hydrocephalus ORPHA:59315
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Non-convulsive status epilepticus without coma, Seizure, Dysplastic corpus callosum, Hyperintensi... ORPHA:544488
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
1Q21.1 Microduplication Syndrome
Seizure, Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:250994
Corpus Callosum, Partial Agenesis Of, X-Linked
Seizure, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:304100
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... ORPHA:101046
Pfeiffer Syndrome Type 2
Seizure, Hydrocephalus, Aqueductal stenosis ORPHA:93259
Joubert Syndrome 15
Molar tooth sign on MRI, Ataxia OMIM:614464
Fried Syndrome
Gait disturbance, Hydrocephalus, Cerebral calcification ORPHA:85335
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormality of thalamus m... ORPHA:404440
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Joubert Syndrome 28
Molar tooth sign on MRI, Ataxia OMIM:617121
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Torticollis OMIM:618425
Tay-Sachs Disease
Inability to walk, Dystonia, Hypointensity of cerebral white matter on MRI, Ventriculomegaly, Gai... ORPHA:845
Methylcobalamin Deficiency Type Cble
Hypoplasia of the brainstem, Lethargy, Ventriculomegaly, Abnormal cerebral white matter morpholog... ORPHA:2169
Familial Infantile Myoclonic Epilepsy
Thick cerebral cortex, Focal-onset seizure, Gait disturbance, Blepharospasm, Bilateral tonic-clon... ORPHA:352582
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Dystonia, Gait ... OMIM:618917
Severe Canavan Disease
Inability to walk, Lethargy, Cerebral white matter atrophy, Megalencephaly, Bilateral tonic-cloni... ORPHA:314911
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Alexander Disease
Agenesis of corpus callosum, Gait disturbance, Megalencephaly, Aqueductal stenosis, Ataxia, Seizu... ORPHA:58
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Abnormal thalamic MRI signal intensity, Seizure, Secondary microcephaly, Epileptic ... ORPHA:485421
Pfeiffer Syndrome Type 1
Aqueductal stenosis ORPHA:93258
Joubert Syndrome 3
Ataxia, Molar tooth sign on MRI, Enlarged fossa interpeduncularis, Elongated superior cerebellar ... OMIM:608629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Leukoencephalopathy, Hydrocephalus, Hypoplasia of the pons OMIM:615181
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Abnormal cerebral white matter morphology, Ataxia, Seizure, Abnormal cor... ORPHA:457279
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Hypoplasia of the corpus callosum, Spastic gait, Colpocephaly ORPHA:401815
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Enlarged fossa interpeduncularis, Ataxia, Elongated super... OMIM:610688
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Seizure, Cortical dysplasia, Focal impaired awareness seizure, Mi... ORPHA:208441
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Seizure, Primary microcephaly, Perivent... ORPHA:293725
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:289266
Aceruloplasminemia
Dystonia, Gait ataxia, Akinesia, Limb ataxia, Blepharospasm, Abnormal thalamic MRI signal intensi... ORPHA:48818
Meningioma
Focal T2 hypointense thalamic lesion, Brain stem compression, Difficulty walking, Focal-onset sei... ORPHA:2495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Seizure, Agyria,... OMIM:615249
Papilloma Of Choroid Plexus
Seizure, Hydrocephalus, Choroid plexus papilloma OMIM:260500
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Postnatal growth retardat... OMIM:304050
Polymicrogyria, Bilateral Perisylvian, X-Linked
Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Gait disturba... ORPHA:272
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:613608
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus ORPHA:3412
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Delayed puberty, Short stature, Microcephaly, Broad-based gait ORPHA:2959
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:266100
Orofaciodigital Syndrome Xvi
Inability to walk, Ventriculomegaly, Molar tooth sign on MRI, Ataxia OMIM:617563
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:86909
Panhypophysitis
Panhypopituitarism, Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal th... ORPHA:95513
Joubert Syndrome With Renal Defect
Hydrocephalus, Gait disturbance, Ataxia, Seizure, Polymicrogyria, Molar tooth sign on MRI, Agenes... ORPHA:220497
Bilateral Polymicrogyria
Focal-onset seizure, Ventriculomegaly, Aplasia/Hypoplasia of the cerebral white matter, Bilateral... ORPHA:268940
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Cavum septum pellucidum, Difficulty walking, Hypoplasia of the corpus callosum... ORPHA:464738
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Enlarge... OMIM:608091
Alternating Hemiplegia Of Childhood 1
Dystonia, Bilateral tonic-clonic seizure OMIM:104290
Congenital Toxoplasmosis
Ventriculomegaly, Seizure, Cerebral calcification, Intrauterine growth retardation, Microcephaly,... ORPHA:858
Coach Syndrome 3
Molar tooth sign on MRI, Ataxia OMIM:619113
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Hippocampal atrophy, Focal impaire... OMIM:614418
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Seizure, Gait ataxia, Myoclonus, Abnormal thalamic MRI signal intensity ORPHA:70595
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Agenesis of corpus callosum, Fusion of the left ... OMIM:610828
Pfeiffer Syndrome Type 3
Seizure, Aqueductal stenosis ORPHA:93260
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Lethargy, Abnormal midbrain morphology, Abnormal hypotha... ORPHA:68
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Seizure, Polymicrogyria, Hydrocephalus OMIM:602501
47,Xyy Syndrome
Increased circulating gonadotropin level, Seizure, Abnormal brainstem morphology, Hyperactivity, ... ORPHA:8
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus, Proportionate sh... ORPHA:759
Adenohypophysitis
Panhypopituitarism, Pituitary hypothyroidism, Abnormal thalamic MRI signal intensity, Adrenocorti... ORPHA:95512
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles OMIM:607485
Hydrocephalus, Congenital Communicating, 1
Seizure, Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Seizure, Polymicrogyria, Megalencephaly, Hydrocephalus ORPHA:83473
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:618914
Developmental And Epileptic Encephalopathy 30
Seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:616341
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Ataxia, Seizure, Molar tooth sign on MRI, Hydrocephalus ORPHA:2318
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Molar tooth sign on MRI, Short stature OMIM:277170
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Salt And Pepper Developmental Regression Syndrome
Status epilepticus, Microcephaly, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Seizure, Simplified gyral pattern, Colpocephaly, L... OMIM:615219
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Short stature, Postnatal growth retardation, Decreased response to growth ... OMIM:615925
Papillary Tumor Of The Pineal Region
Difficulty walking, Increased CSF protein, Episodic ataxia, Hydrocephalus ORPHA:251915
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Seizure, Short stature, Hydrocephalus OMIM:162200
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Ataxia, Myoclonus, Bilateral tonic-clonic seizure OMIM:254800
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Seizure, Polymicrogyria, Microcephaly, Infantile spasms OMIM:618731
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Delayed puberty, Short stature, Decre... OMIM:614963
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Atonic seizure, Bilateral tonic-clonic seizure, Ataxia, Seizure, Focal impaired awarene... ORPHA:382
Kleeblattschaedel
Hydrocephalus OMIM:148800
Craniopharyngioma
Abnormal hypothalamus morphology, Proportionate short stature, Enlarged pituitary gland, Growth d... ORPHA:54595
Joubert Syndrome With Ocular Defect
Hydrocephalus, Gait disturbance, Ataxia, Seizure, Polymicrogyria, Molar tooth sign on MRI, Agenes... ORPHA:220493
Mend Syndrome
Seizure, Short stature, Hyperactivity, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Enlarged fossa interpeduncularis, Ataxia, Hemif... OMIM:213300
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Corpus callosum atrophy, Atonic seizure, Focal-onset seizu... ORPHA:168491
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum,... ORPHA:1528
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Polymicrogyria, Short stature, Microcephaly, Hydrocephalus OMIM:154400
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Generalized tonic seizure, Hypoplasia of the corpus callosum, Ventriculomegaly... OMIM:617193
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Hydrocephalus ORPHA:324416
Peho Syndrome
Porencephalic cyst, Hydrocephalus, Ventriculomegaly, Seizure, Cerebral cortical atrophy, Atrophy/... ORPHA:2836
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Status epilepticus, Generalized non-motor (absence) seizu... OMIM:271980
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Mental Retardation, Autosomal Dominant 36
Inability to walk, Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure, Microcephaly, Hy... OMIM:616362
Biemond Syndrome Type 2
Delayed puberty, Hydrocephalus, Short stature ORPHA:141333
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia OMIM:618161
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Microcephaly ORPHA:726
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Nasu-Hakola Disease
Ventriculomegaly, Seizure, Cerebral cortical atrophy, Cerebral calcification, Hydrocephalus ORPHA:2770
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Abnormal periventricular white matter morphology, Focal-onset seizure, Ventriculomegaly... ORPHA:395
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... OMIM:614559
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Seizure, Cerebral cortical atrophy, Short stature, Intrauterine gr... ORPHA:177907
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure, Short stature, Agene... OMIM:218350
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Cerebral white matter atrophy, Difficulty walking, Bilateral tonic-clonic seizure... ORPHA:369840
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Gait disturbance, Seizure, Short stature, Hy... OMIM:609757
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Glutaryl-Coa Dehydrogenase Deficiency
Open operculum, Dystonia, Communicating hydrocephalus, Abnormal caudate nucleus morphology, Palli... ORPHA:25
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Pachygyria, Bilateral tonic-clonic seizure ORPHA:329329
Melanosis, Neurocutaneous
Seizure, Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Abnormal periventricular white matter morphology, Ventriculomegaly, ... OMIM:618476
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure, Agenesis of corpus c... OMIM:618577
Craniofacial Dyssynostosis
Hypoplasia of the corpus callosum, Hydrocephalus, Short stature ORPHA:1516
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Abnormal midbrain morpholog... ORPHA:314621
Molybdenum Cofactor Deficiency, Complementation Group C
Cerebral atrophy, Bilateral tonic-clonic seizure, Seizure, Polymicrogyria, Generalized-onset seiz... OMIM:615501
Acute Bilirubin Encephalopathy
Seizure, Abnormal thalamic MRI signal intensity ORPHA:529799
Chronic Bilirubin Encephalopathy
Seizure, Abnormal thalamic MRI signal intensity ORPHA:529808
Thoracic Dysplasia-Hydrocephalus Syndrome
Seizure, Ataxia, Communicating hydrocephalus, Short stature ORPHA:1861
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, ... OMIM:614487
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Growth delay, Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Choreoacanthocytosis
Frontal cortical atrophy, Hypoplastic hippocampus, Blepharospasm, Bilateral tonic-clonic seizure,... ORPHA:2388
Weaver Syndrome
Seizure, Dilation of lateral ventricles, Absent septum pellucidum OMIM:277590
Greig Cephalopolysyndactyly Syndrome
Seizure, Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:261102
Dandy-Walker Malformation With Postaxial Polydactyly
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... OMIM:220220
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microcephaly, Hydrocephalus ORPHA:397951
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Hypoplasia of the corpus callosum, Cerebral atrophy, Bilateral tonic-c... OMIM:612164
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Short stature OMIM:615280
Temple Syndrome
Short stature, Hydrocephalus, Postnatal growth retardation, Decreased response to growth hormone ... ORPHA:254516
Mosaic Trisomy 1
Polymicrogyria, Agenesis of corpus callosum, Dilation of lateral ventricles ORPHA:1692
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure... OMIM:617822
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Atonic seizure, Gait disturbance, Hypoplasia of the corpus callosum, Bilateral... ORPHA:93952
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Cerebral atrophy, Bilateral tonic-clonic seizure ORPHA:457205
Muscle-Eye-Brain Disease
Holoprosencephaly, Gait disturbance, Meningocele, Seizure, Hydrocephalus ORPHA:588
Krabbe Disease
Seizure, Increased CSF protein, Diffuse cerebral atrophy, Hydrocephalus OMIM:245200
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Inability to walk, Agenesis of corpus callosum, Focal-onset seizure,... OMIM:618651
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Seizure, Hydrocephalus OMIM:300886
Charge Syndrome
Holoprosencephaly, Aqueductal stenosis, Postnatal growth retardation, Delayed puberty, Short stat... ORPHA:138
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Cerebral white matter atrophy, Atonic seizure, Ventriculom... ORPHA:79351
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Abnormality of the diencephalon, Microcephaly ORPHA:2165
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria OMIM:618093
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:619000
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, Ven... ORPHA:444072
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Polymicrogyria, Agenes... OMIM:156810
Optic Pathway Glioma
Seizure, Growth delay, Hydrocephalus ORPHA:2086
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Episodic ataxia, Bilateral tonic-clonic seizure ORPHA:53583
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Growth delay, Bilateral tonic-clonic seizure, Short stature, Mic... ORPHA:238769
Lafora Disease
Inability to walk, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizu... ORPHA:501
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Pachygyria, Hypoplasia of the corpus callosum, Megalencephaly, Seizure, Polymicrogyria, Thick cor... OMIM:603387
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Thanatophoric Dysplasia
Ventriculomegaly, Seizure, Intrauterine growth retardation, Hydrocephalus, Disproportionate short... ORPHA:2655
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormal cerebral white matter morphology, Bilateral tonic-clonic seizure, Fron... ORPHA:275864
Focal Facial Dermal Dysplasia Type Iv
Focal-onset seizure, Microcephaly, Hydrocephalus ORPHA:398189
Mental Retardation, Autosomal Dominant 35
Seizure, Ventriculomegaly, Hydrocephalus OMIM:616355
Temple Syndrome
Intrauterine growth retardation, Hydrocephalus, Short stature OMIM:616222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hypoplasia of the corpus callosum... OMIM:614643
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Disproportionate short stature, Hypoplasia of the corpus callosum, Rhizomelia, Megalencephaly, Se... OMIM:616482
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Greig Cephalopolysyndactyly Syndrome
Seizure, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:175700
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Seizure, Short stature, Hydrocephalus ORPHA:93274
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Inability to walk, Hypoplasia of the brainstem, Difficulty walking, Hypoplasia of the corpus call... ORPHA:481152
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Hydrocephalus, Anterior hypopituitarism OMIM:241800
Amish Lethal Microcephaly
Spina bifida, Ventriculomegaly, Bilateral tonic-clonic seizure, Microcephaly, Agenesis of corpus ... ORPHA:99742
Autosomal Dominant Spastic Paraplegia Type 6
Gait disturbance, Bilateral tonic-clonic seizure ORPHA:100988
Amelocerebrohypohidrotic Syndrome
Seizure, Hydrocephalus, Short stature ORPHA:1946
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria, Gener... ORPHA:313772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Vent... OMIM:613150
16P13.2 Microdeletion Syndrome
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Gait disturba... ORPHA:500055
Infantile Sialic Acid Storage Disease
Seizure, Cerebral atrophy, Hydrocephalus OMIM:269920
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... OMIM:220219
Congenital Disorder Of Glycosylation, Type Iim
Hypoplasia of the corpus callosum, Cerebral atrophy, Dilation of lateral ventricles, Seizure, Int... OMIM:300896
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Short stature, Intrauterine growth retardation, Microceph... OMIM:609053
Coach Syndrome 1
Dystonia, Growth delay, Ataxia, Seizure, Molar tooth sign on MRI OMIM:216360
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Seizure, Abnormality of the septum pellucidum, Cerebral atrophy, Hydrocephalus ORPHA:171839
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature ORPHA:2183
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Bilateral tonic-clonic seizure, Seizure, Short stature, Microcephaly, Decreased... ORPHA:457240
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, C... ORPHA:98795
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Abnormal cerebral white matter morphology, Hydrocephalus OMIM:600991
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Dysgenesis of the hippocampus, Ataxia, Seizure, Attention deficit hy... OMIM:619320
Hydrocephalus With Associated Malformations
Intrauterine growth retardation, Hydrocephalus OMIM:236640
Hydrocephalus, Normal-Pressure, 1
Gait disturbance, Normal pressure hydrocephalus OMIM:236690
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Holo... OMIM:253800
Mental Retardation, Buenos Aires Type
Microcephaly, Spastic gait, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:249630
Joubert Syndrome 8
Molar tooth sign on MRI, Ataxia OMIM:612291
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polymicrogyria, Molar tooth sign on MRI, Hydrocephalus, Anencephaly OMIM:616546
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Ventriculomegaly, Seizure, Disproportionate sho... ORPHA:1855
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Short stature OMIM:109120
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Cerebral atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic s... OMIM:301058
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Steppage gait, Hydrocephalus, Inability to walk by childhood/adolescence ORPHA:99947
Myoclonic Epilepsy Of Lafora
Gait disturbance, Bilateral tonic-clonic seizure, Lafora bodies, Generalized non-motor (absence) ... OMIM:254780
Cerebral Visual Impairment
Abnormal cerebral white matter morphology, Seizure, Abnormal cerebral morphology, Focal cortical ... ORPHA:447788
Functioning Gonadotropic Adenoma
Panhypopituitarism, Increased circulating gonadotropin level, Hydrocephalus, Anterior hypopituita... ORPHA:91348
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Gait ataxia, Difficulty walking, Bilateral tonic-clonic seizure, Status epilepticus, Seizure, Dys... ORPHA:529665
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Seizure, Short stature, Attention deficit hyperactivity disorder, Agenesis of corp... ORPHA:459061
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum, Growth delay, Gait disturbance... ORPHA:2754
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Spinal dysraphism, Anencephaly, Men... ORPHA:1908
Congenital Disorder Of Glycosylation, Type Iil
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Growth delay, Seizure, Abn... OMIM:614576
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Ataxia, Inc... OMIM:272200
Developmental And Epileptic Encephalopathy 95
Inability to walk, Multifocal seizures, Focal-onset seizure, Gait disturbance, Cerebral atrophy, ... OMIM:618143
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Inability to walk, Growth delay, Bilateral tonic-clonic seizure, Seizure, Polymicrogyria, Focal i... ORPHA:488613
Oxoglutaric Aciduria
Ataxia, Hydrocephalus, Short stature ORPHA:31
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Olivopontocereb... ORPHA:457284
Vitamin K Antagonist Embryofetopathy
Seizure, Myelomeningocele, Hydrocephalus, Intrauterine growth retardation ORPHA:1914
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Proportionate short stature, Hypoplasia of the corpus callosum, Ven... ORPHA:500150
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Arima Syndrome
Hypoplasia of the brainstem, Brainstem dysplasia, Ataxia, Occipital meningocele, Dilated fourth v... OMIM:243910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Hypo... OMIM:236670
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Cerebral atrophy, Seizure, Short stature, Microcephaly, Hydrocephalus OMIM:614886
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Seizure, Lissencephaly, Microcephaly, Hydrocephalus, Dandy-Walke... OMIM:612938
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Absent mesencephalon OMIM:601374
Sarcosinemia
Ataxia, Bilateral tonic-clonic seizure ORPHA:3129
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Corpus callosum atrophy, Ventriculomegaly, Bilateral tonic-clonic seizure, Leukoencephalopathy, S... OMIM:608809
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Semilobar Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Agenesis of corpus callosum, Growth delay, Abnor... ORPHA:220386
Alobar Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Agenesis of corpus callosum, Growth delay, Abnor... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Agenesis of corpus callosum, Growth delay, Abnor... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Panhypopituitarism, Lethargy, Agenesis of corpus callosum, Growth delay, Abnor... ORPHA:93924
Desmosterolosis
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Growth delay... ORPHA:35107
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Seizure, Abnormality of the basal ganglia, Thalamic hemorrhage, Cerebral calcification ORPHA:464321
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Seizure, Pol... ORPHA:899
Metatropic Dysplasia
Hydrocephalus, Severe short stature ORPHA:2635
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Tenorio Syndrome
Cavum septum pellucidum, Ventriculomegaly, Gait disturbance, Seizure, Cerebral cortical atrophy, ... OMIM:616260
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Ataxia, Myelomeningocele, Agenesis of corpus callosum OMIM:207950
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Gait disturbance, Hydrocephalus ORPHA:2181
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Dilation of lateral ventricles OMIM:263520
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... OMIM:619338
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Bilateral to... OMIM:257300
Joubert Syndrome 14
Growth delay, Ataxia, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Griscelli Syndrome
Seizure, Ataxia, Hydrocephalus, Short stature ORPHA:381
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic Adhesion, Infantile spasms, Focal impaired awareness seizure, Agenesis of corpu... OMIM:618929
Edinburgh Malformation Syndrome
Seizure, Hydrocephalus ORPHA:1895
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Decreased response to ... OMIM:220210
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Seizure, Polymicrogyria, Hydrocephal... ORPHA:1647
Linear Skin Defects With Multiple Congenital Anomalies 1
Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Seizure, Short stature, Mic... OMIM:309801
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Short stature ORPHA:2701
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Rhizomelia, Hydrocephalus, Short stature OMIM:300863
Bresek Syndrome
Intrauterine growth retardation, Microcephaly, Growth delay, Hydrocephalus ORPHA:85284
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gait disturbance, Ataxia, Seizure, Polymicrogyria, Hyd... ORPHA:475
Angelman Syndrome
Inability to walk, Atypical absence seizure, Atonic seizure, Delayed menarche, Bilateral tonic-cl... ORPHA:72
Chromosome 1P36 Deletion Syndrome
Pachygyria, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of the corpus callosum, Growth... OMIM:607872
Osteopetrosis, Autosomal Recessive 5
Growth delay, Cerebral atrophy, Generalized-onset seizure, Short stature, Microcephaly, Hydroceph... OMIM:259720
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Microcephaly, Postnatal growth retardation, Bilateral tonic-clonic seizure ORPHA:79350
Combined Oxidative Phosphorylation Defect Type 29
Increased CSF lactate, Bilateral tonic-clonic seizure, Subependymal cysts, Increased CSF protein,... ORPHA:478029
Emanuel Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Cerebral atrophy, Abnormal cerebral white matter m... ORPHA:96170
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:1934
Lhermitte-Duclos Disease
Seizure, Polymicrogyria, Hydrocephalus, Ataxia ORPHA:65285
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus, Short stature OMIM:615630
16Q24.3 Microdeletion Syndrome
Seizure, Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly ORPHA:261250
Encephalocraniocutaneous Lipomatosis
Porencephalic cyst, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Seizure, Cort... OMIM:613001
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive gait ataxia, Focal-onset seizure, Hypoplasia of the corpus callosum, Loss of ability ... ORPHA:329308
Ventriculomegaly With Cystic Kidney Disease
Seizure, Ventriculomegaly, Hydrocephalus OMIM:219730
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hypopituitarism, Seizure, Hyperglycorrhachia, Hydrocephalus ORPHA:90065
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Blepharospasm, Myoclonus, Bilateral tonic-clonic seizure OMIM:607876
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Agyria, Cerebral calcificati... OMIM:616538
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Hydrocephalus, Severe short stature OMIM:187600
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Multifocal seizures, Generalized tonic seizure, Dystonia, Bilateral tonic-... ORPHA:480864
Fg Syndrome Type 1
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Small pituitary gland, Seizure, Shor... ORPHA:93932
Lowry-Maclean Syndrome
Aplasia/Hypoplasia of the corpus callosum, Growth delay, Seizure, Intrauterine growth retardation... ORPHA:2409
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Decreased response to growth hormone stimuation test, Seizure, Adre... ORPHA:293987
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Rhizomelia, Hydrocephalus, Short stature ORPHA:163966
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Seizure, Ge... ORPHA:457351
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Cole-Carpenter Syndrome 1
Short stature, Communicating hydrocephalus, Hydrocephalus OMIM:112240
Multiple Sulfatase Deficiency
Seizure, Microcephaly, Hydrocephalus, Short stature ORPHA:585
Triploidy
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Meningocele, Intrauterine growth re... ORPHA:3376
Mowat-Wilson Syndrome Due To Monosomy 2Q22