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Gene: Tal2 MGI:99540

Gene Summary

Name:

T cell acute lymphocytic leukemia 2

Synonyms:

bHLHa19

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, incomplete penetrance		Tal2^em1(IMPC)H	HOM		Early adult	0.00

Download data as: TSV XLS

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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.

Human diseases associated with Tal2 (1 diseases)
Human diseases predicted to be associated with Tal2 (727 diseases)

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	Matching phenotypes	Source
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Midline brainstem cleft, Seizure, Fusion of...	OMIM:617542
Tubulinopathy-Associated Dysgyria	Startle-induced seizure, Ataxia, Infantile spasms, Hypoplasia of the pons, Abnormal brainstem mor...	ORPHA:467166
Microphthalmia-Brain Atrophy Syndrome	Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizures, Abnormal pons morphol...	ORPHA:77299
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Late...	ORPHA:101071
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Seizure, Hypoplasia of the brainstem, Decreased thalamic volume	OMIM:613668
Polymicrogyria With Optic Nerve Hypoplasia	Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Hypoplasia...	ORPHA:250972
L1 Syndrome	Aqueductal stenosis, Seizure, Hydrocephalus, Gait disturbance	ORPHA:275543
Hydrocephalus, Congenital, 1	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:236600
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Focal-onset seizure, Hypoplasia of the brainstem, Decreased thalamic volume, Myoclonic seizure	OMIM:619072
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Seizure, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:2182
Pontocerebellar Hypoplasia, Type 12	Hypoplasia of the brainstem, Lateral ventricle dilatation	OMIM:618266
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Seizure, Gait disturbance...	ORPHA:88619
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal...	ORPHA:208447
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Gait ataxia, Atrophy/Degeneratio...	OMIM:617862
Band Heterotopia	Hydrocephalus, Seizure, Lateral ventricle dilatation, Agenesis of corpus callosum, Ventriculomegaly	OMIM:600348
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the pons, Focal-onset seizure, Abnormal brainstem morphology, Seizure, Lateral vent...	ORPHA:300573
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Epilepsy, Progressive Myoclonic, 8	Bilateral tonic-clonic seizure, Truncal ataxia, Limb ataxia, Choreoathetosis, Gait disturbance, M...	OMIM:616230
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co...	OMIM:619302
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Cach Syndrome	T2 hypointense thalamus, Truncal ataxia, Dysmetria, Limb ataxia, Growth delay, Seizure, Abnormal ...	ORPHA:135
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Ataxia, Infantile spasms, Inability to walk, Hydrocephalus, Myoclonic seizure, Sei...	OMIM:618174
Alexander Disease Type I	Ataxia, Hydrocephalus, Abnormal thalamic MRI signal intensity, Seizure, Palatal tremor	ORPHA:363717
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormal brainstem morphology, Falls, Myoclo...	ORPHA:2382
Lissencephaly 3	Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypoplasia of the brainstem, Agenesis of corpus ...	OMIM:611603
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Seizure, Later...	OMIM:609637
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Hypoplasia of the pons, Limb ataxia, Hypoplasia of the ventral pons, Lateral ventricle di...	OMIM:607596
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Bradykinesia, Seizure, Thalamic calcification, Limb ataxia	OMIM:618824
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
X-Linked Parkinsonism-Spasticity Syndrome	Scissor gait, Bradykinesia, Seizure, Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Clonic seizure, Hydrocephalus, Status epilepticus, Generalized my...	OMIM:266100
Joubert Syndrome 31	Molar tooth sign on MRI, Ventriculomegaly, Truncal ataxia	OMIM:617761
Congenital Disorder Of Glycosylation, Type Iiy	Bilateral tonic-clonic seizure, Status epilepticus, Atrophy/Degeneration affecting the brainstem,...	OMIM:620200
New-Onset Refractory Status Epilepticus	Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, CSF p...	ORPHA:363558
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Seizure, Hydrocephalus	ORPHA:2807
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Seizure, Agenesis of corpus callosum	ORPHA:1496
Lissencephaly 4	Short stature, Growth delay, Seizure, Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Ataxia, Inability to walk, Bradykinesia, Seizure, Pontocerebellar atrophy, Late...	OMIM:617854
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Growth delay, Seizure, Late...	OMIM:615716
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Ataxia, Lateral ventricle dilatation, Molar tooth sign on MRI, ...	OMIM:608629
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:615937
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Seizure, Hydrocephalus, Ataxia, Ventriculomegaly	OMIM:618709
Developmental And Epileptic Encephalopathy 59	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Focal...	OMIM:617904
Joubert Syndrome 36	Molar tooth sign on MRI, Seizure	OMIM:618763
Combined Oxidative Phosphorylation Deficiency 51	Severe short stature, Growth delay, Focal T2 hyperintense thalamic lesion, Myoclonus, Intrauterin...	OMIM:619057
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251912
Intellectual Developmental Disorder, X-Linked 103	Seizure, Lateral ventricle dilatation	OMIM:300982
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Decreased thalamic volume	OMIM:618646
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca...	OMIM:618736
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Olivopontocerebellar hypoplasia, Hypoplasia of...	ORPHA:370959
Gómez-López-Hernández Syndrome	Hydrocephalus, Ataxia, Abnormal brainstem morphology, Short stature	ORPHA:1532
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, My...	OMIM:619301
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:615006
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Seizure, Hypoplasia of the brainstem, Occipital encephalocele, Hydrocephalus	ORPHA:352682
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Pyruvate Dehydrogenase E1-Alpha Deficiency	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Inability to walk, Partial agenesis of ...	ORPHA:79243
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Infantile spasms, Tonic seizure, Focal motor seizure, Myoclonic seizure, Lateral ventricle dilata...	OMIM:618890
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the pons, Inability to walk, Gait ataxia, Lateral ventricle dilatation, Status epil...	OMIM:618606
Atypical Teratoid Rhabdoid Tumor	Seizure, Hydrocephalus, Ataxia	ORPHA:99966
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Seizure, Vent...	OMIM:604213
Malan Overgrowth Syndrome	Seizure, Hypoplasia of the brainstem, Lateral ventricle dilatation, Episodic ataxia, Ventriculome...	ORPHA:420179
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Lateral ventricle dilatation, Difficulty walking	ORPHA:306669
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus, Seizure, Gait disturbance, Myoclonus	OMIM:618193
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Dysmetria, Gait ataxia, Progressive cerebellar a...	ORPHA:254881
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Inability to walk, Seizure, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Seizure, Hydrocephalus	ORPHA:2703
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait ataxia, Growth delay,...	ORPHA:488635
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Bradykinesia, Ataxia, Thalamic calcification, Dysmetria	OMIM:618317
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Postnatal growth retardation, Focal-onset seizure, Partial agenesis of the corpus...	ORPHA:300570
Neuroferritinopathy	T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Bradykinesia, Iron accumulation ...	ORPHA:157846
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Seizure, Hypoplasia of the brainstem, Lateral ventricle dilatation, Int...	OMIM:617751
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus	ORPHA:22
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Ataxia, Inability to walk, T2 hypointense thalamus, Unsteady gait, Gait ataxia, Seizure, Focal im...	ORPHA:1947
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bilateral tonic-clonic seizure, Akinesia, Focal motor seizure, Bradykinesia, Seizure, Thinning of...	OMIM:619911
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Subependymal ...	OMIM:600721
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Gait ataxia, Choreoathetosis, Seizure, Dandy-Walker malformat...	OMIM:304340
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum, Short stature	ORPHA:166024
Slc35A2-Cdg	Short stature, Abnormal midbrain morphology, Infantile spasms, Inability to walk, Seizure, Latera...	ORPHA:356961
Joubert Syndrome 25	Molar tooth sign on MRI, Ataxia	OMIM:616781
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Tonic seizure, Focal-onset seizure, Partial agenesis of the corpus callosum, Myoclonic seizure, L...	OMIM:619517
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology, Difficulty walking	ORPHA:397725
Joubert Syndrome 30	Molar tooth sign on MRI, Seizure, Dandy-Walker malformation, Ventriculomegaly	OMIM:617622
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen...	OMIM:616346
Dravet Syndrome	Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Alg2-Cdg	Seizure, Lateral ventricle dilatation, Infantile spasms	ORPHA:79326
Methylmalonic Acidemia With Homocystinuria	Seizure, Hydrocephalus, Gait disturbance, Lethargy	ORPHA:26
Combined Oxidative Phosphorylation Defect Type 39	Increased CSF lactate, Seizure, Lateral ventricle dilatation, Tip-toe gait, Atrophy/Degeneration ...	ORPHA:565624
Japanese Encephalitis	Abnormal substantia nigra morphology, Bilateral tonic-clonic seizure, Abnormal midbrain morpholog...	ORPHA:79139
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Seizure, Lateral ventricle dilatation, Myoclonus, Intrauterine growth retardation	ORPHA:284417
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t...	OMIM:605021
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation, Ataxia	OMIM:615889
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Multifocal seizures, Ataxia, Dysmetria, Seizure, Hypoplasia of the brai...	ORPHA:572798
Martsolf Syndrome 2	Lateral ventricle dilatation, Short stature	OMIM:619420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Dilated th...	OMIM:613154
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Short stature, Hydrocephalus, Abnormal brainstem morphology, Seizure, Abnormality of the ...	ORPHA:2720
Combined Oxidative Phosphorylation Defect Type 23	Abnormal brainstem MRI signal intensity, Seizure, Abnormal thalamic MRI signal intensity	ORPHA:444013
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Seizure, Lateral ventricle dilatation, Gait disturbance, Myoclonus	OMIM:221770
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele, Ataxia	OMIM:617562
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Seizure, Hypoplasia of the brainstem, Molar tooth sign on MRI, Fusion o...	OMIM:619306
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Gait ataxia, Seizure, Myoclonus, Ven...	OMIM:615362
Joubert Syndrome 9	Molar tooth sign on MRI, Seizure, Encephalocele, Ventriculomegaly	OMIM:612285
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum, Hydrocephalus, Rhizomelia	OMIM:166990
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Seizure, Lateral ventricle dilatation	OMIM:617668
Combined Oxidative Phosphorylation Defect Type 7	Ataxia, Abnormal brainstem MRI signal intensity, Inability to walk, Abnormal thalamic MRI signal ...	ORPHA:254930
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Ataxia, Inability to walk, Seizure, Lateral ventricle dilat...	ORPHA:2822
Basal Ganglia Calcification, Idiopathic, 5	Athetosis, Thalamic calcification	OMIM:615483
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Infantile spasms, Athetosis, Focal impaired awareness seizure, At...	OMIM:617493
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Severe postnatal growth retardation, Seizure, Lateral ventricle dilatat...	ORPHA:3078
Masa Syndrome	Short stature, Hydrocephalus, Shuffling gait, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Galloway-Mowat Syndrome	Aqueductal stenosis, Intrauterine growth retardation, Seizure, Short stature	ORPHA:2065
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Akinesia, Hydrocephalus, Seizure, Hypoplasia of the brainstem, Hydranencephaly,...	OMIM:225790
Lissencephaly 5	Seizure, Hypoplasia of the brainstem, Occipital encephalocele, Hydrocephalus	OMIM:615191
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation, Short stature	OMIM:618330
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Intrauterine growth retardation	ORPHA:3035
Developmental And Epileptic Encephalopathy 36	Infantile spasms, Tonic seizure, Hydrocephalus, Myoclonic seizure, Seizure, Atonic seizure	OMIM:300884
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Truncal ataxia	OMIM:220200
Cog5-Cdg	Short stature, Truncal ataxia, Seizure, Lateral ventricle dilatation, Atrophy/Degeneration affect...	ORPHA:263487
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur...	OMIM:617831
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (...	OMIM:607682
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Alg13-Cdg	Abnormal lateral ventricle morphology, Infantile spasms	ORPHA:324422
Joubert Syndrome 10	Molar tooth sign on MRI, Growth delay	OMIM:300804
Acute Disseminated Encephalomyelitis	Ataxia, Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Atypical...	ORPHA:83597
Septopreoptic Holoprosencephaly	Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morphology, Ethmoidal encepha...	ORPHA:280195
Holoprosencephaly 14	Ventriculomegaly, Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Aqueductal stenosis, ...	OMIM:619895
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Thickened superior cereb...	OMIM:609583
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Seizure, Hydrocephalus	ORPHA:1008
X-Linked Intellectual Disability, Wilson Type	Growth delay, Seizure, Lateral ventricle dilatation	ORPHA:85290
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure with focal onset, Dysplastic corpus callosum, Seizure, Lateral ven...	ORPHA:488627
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion, Status epilepticus, Ataxia, Increased CSF lactate	OMIM:619046
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Bilateral tonic-clonic seizure	OMIM:619278
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonus, Diffi...	OMIM:614018
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Hydranencephaly	Ventriculomegaly, Postnatal growth retardation, Thalamic edema, Seizure, Intrauterine growth reta...	ORPHA:2177
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Intrauterine growth retardation	ORPHA:1788
Joubert Syndrome 16	Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation	OMIM:614465
Alexander Disease	Ataxia, Hydrocephalus, Dysmetria, Seizure, Palatal tremor, Increased CSF protein concentration	OMIM:203450
Juvenile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Seizure, Focal T2 hyperintense thalamic lesion, Myoclonic spasms,...	ORPHA:79264
Sandhoff Disease, Infantile Form	Bilateral tonic-clonic seizure, Abnormal thalamic MRI signal intensity, Myoclonic seizure, Seizur...	ORPHA:309155
Glutamine Deficiency, Congenital	Subependymal cysts, Seizure, Lateral ventricle dilatation, Decreased CSF glutamine concentration	OMIM:610015
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Ataxia, Hypoplasia of the brainstem, ...	OMIM:610688
Continuous Spikes And Waves During Sleep	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se...	ORPHA:725
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Short stature, Increased CSF alanine concentration, Ataxia, Bilateral tonic-clonic seizure, Incre...	OMIM:619065
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls, Ventriculomegaly	OMIM:203740
Central Neurocytoma	Lethargy, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus	ORPHA:73256
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton...	OMIM:618587
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Joubert Syndrome 20	Molar tooth sign on MRI, Inability to walk	OMIM:614970
Joubert Syndrome 33	Molar tooth sign on MRI, Ataxia	OMIM:617767
Oculoskeletodental Syndrome	Abnormal thalamus morphology, Dysplastic corpus callosum, Short stature	ORPHA:557003
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
2,4-Dienoyl-Coa Reductase Deficiency	Ataxia, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Seizure, Colpocephaly, Increased C...	OMIM:616034
Adams-Oliver Syndrome 2	Seizure, Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
3P25.3 Microdeletion Syndrome	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Generalized myoc...	ORPHA:435638
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Seizure, Hydrocephalus, Broad-based gait	OMIM:619470
Joubert Syndrome 15	Molar tooth sign on MRI, Ataxia, Exencephaly	OMIM:614464
Kohlschutter-Tonz Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Ventricu...	OMIM:226750
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generaliz...	ORPHA:36387
Congenital Hydrocephalus	Seizure, Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Leigh Syndrome	Ataxia, Infantile spasms, Abnormal brainstem MRI signal intensity, Focal T2 hyperintense brainste...	ORPHA:506
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Short stature, Rhizomelic leg shortening, Meningocele,...	ORPHA:397715
Den Hoed-De Boer-Voisin Syndrome	Ventriculomegaly, Ataxia, Generalized clonic seizure, Focal-onset seizure, Inability to walk, Gen...	OMIM:619229
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Seizure, Lateral ventricle dilatation, Status epilepticus, Myoclonus, Febrile seiz...	OMIM:619847
Paganini-Miozzo Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Lateral ventricle dilatation	OMIM:301025
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Seizure, Hypothalamic hamartoma, Focal emotional seizure w...	ORPHA:649929
Joubert Syndrome 27	Molar tooth sign on MRI, Ataxia, Gait ataxia	OMIM:617120
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Abnormal brainstem morphology, Seizure, Dandy-Walker malformation, Ventriculomegaly	ORPHA:163961
Pseudo-Torch Syndrome 2	Seizure, Lateral ventricle dilatation, Lethargy, Ventriculomegaly	OMIM:617397
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Molar tooth sign on MRI, Intrauterine gro...	OMIM:611134
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Seizure, Hydrocephalus	ORPHA:93259
Joubert Syndrome 28	Molar tooth sign on MRI, Ataxia	OMIM:617121
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Rhombencephalosynapsis	Fusion of the left and right thalami, Hydrocephalus, Ataxia, Ventriculomegaly	ORPHA:59315
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Short stature, Ataxia, Postnatal growth retardation, Decreased thala...	ORPHA:168577
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Small pituitary gland, Disproportionate short-limb short stature, M...	OMIM:619479
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion	OMIM:613724
Glutaric Acidemia I	Choreoathetosis, Seizure, Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Hypoplasia of the brainstem, Hydrocephalus	OMIM:613155
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Steppage gait	OMIM:256850
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:616602
Biemond Syndrome Ii	Hydrocephalus, Short stature	OMIM:210350
Brain Small Vessel Disease 2	Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure, Ventriculomegaly	OMIM:614483
Epilepsy, Progressive Myoclonic, 12	Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking	OMIM:619191
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal thalamus morphology	ORPHA:404440
Pfeiffer Syndrome Type 1	Aqueductal stenosis	ORPHA:93258
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Short stature, Bilateral tonic-clonic seizure, Bradykinesia, Generalized myoclonic seizur...	OMIM:617836
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Seizure, Molar tooth sign on MRI,...	OMIM:614175
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Tip-toe gait, Dilated thir...	OMIM:617296
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, ...	ORPHA:171680
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Peroxisome Biogenesis Disorder 6A (Zellweger)	Seizure, Colpocephaly	OMIM:614870
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Seizure, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	OMIM:619244
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Holoprosencephaly 7	Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Panhypopituitar...	OMIM:610828
Joubert Syndrome 7	Encephalocele, Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI	OMIM:611560
Meningioma	Enlarged pituitary gland, Hemifacial spasm, Ataxia, Reduced circulating prolactin concentration, ...	ORPHA:2495
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ...	OMIM:617350
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal tonic seizure, Myoclonic seizure, At...	OMIM:617106
Joubert Syndrome 18	Molar tooth sign on MRI, Intrauterine growth retardation, Occipital encephalocele, Agenesis of co...	OMIM:614815
Tay-Sachs Disease	Inability to walk, Typical absence seizure, Abnormal thalamic MRI signal intensity, Dysmetria, Se...	ORPHA:845
Neurooculorenal Syndrome	Ectopic posterior pituitary, Aqueductal stenosis, Postnatal growth retardation, Partial agenesis ...	OMIM:620305
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,...	OMIM:618291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Agenesis of...	OMIM:613153
1Q21.1 Microduplication Syndrome	Seizure, Hydrocephalus	ORPHA:250994
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Seizure, Lateral ventricle dila...	ORPHA:2148
Coach Syndrome 3	Molar tooth sign on MRI, Ataxia	OMIM:619113
Alexander Disease	Ataxia, Aqueductal stenosis, Hydrocephalus, Seizure, Gait disturbance, Agenesis of corpus callosum	ORPHA:58
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Inability to walk, Ataxia, Ventriculomegaly	OMIM:617563
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Hydrocephalus, Seizure, Hypoplasia of the brainstem, Lethargy, Intr...	ORPHA:2169
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Intrauterine growth retardation	OMIM:251230
Lissencephaly 9 With Complex Brainstem Malformation	Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Myocloni...	OMIM:618325
Lissencephaly 10	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:618873
Frontal Encephalocele	Encephalocele, Seizure, Hydrocephalus, Spina bifida	ORPHA:1931
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Growth delay, Seizure, Epileptic spasm, Abnormal thalamic MRI signal intensity	ORPHA:485421
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Seizure	ORPHA:93260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Hypoplasia of the brainstem, Hydrocephalus	OMIM:615181
Joubert Syndrome 32	Molar tooth sign on MRI, Ataxia	OMIM:617757
Fried Syndrome	Hydrocephalus, Gait disturbance	ORPHA:85335
Distal Deletion 10Q	Short stature, Ataxia, Postnatal growth retardation, Unsteady gait, Seizure, Lateral ventricle di...	ORPHA:96148
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation, Tonic seizure	OMIM:620075
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Aqueductal stenosis, Hypoplasia of the pons, Parti...	OMIM:619512
Adult Krabbe Disease	Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Ab...	ORPHA:206448
Progeria-Short Stature-Pigmented Nevi Syndrome	Abnormal thalamus morphology, Broad-based gait, Short stature, Delayed puberty	ORPHA:2959
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m...	ORPHA:263516
Aicardi-Goutieres Syndrome 4	Hydrocephalus, CSF lymphocytic pleiocytosis, Seizure, Intrauterine growth retardation, Ventriculo...	OMIM:610333
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking	ORPHA:251915
Joubert Syndrome With Renal Defect	Encephalocele, Ataxia, Hydrocephalus, Seizure, Gait disturbance, Molar tooth sign on MRI, Agenesi...	ORPHA:220497
Joubert Syndrome 22	Molar tooth sign on MRI, Intrauterine growth retardation	OMIM:615665
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Spastic gait, Difficulty walking	ORPHA:401815
Panhypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95513
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Seizure, Abnormal thalamic MRI signal intensity, Myoclonus, Gait ataxia	ORPHA:70595
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Seizure, Ventriculomegaly	OMIM:618667
Vacterl With Hydrocephalus	Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida	ORPHA:3412
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Seizure, Gait disturbance, Intrauterine growth retardation, Ventriculomegaly	ORPHA:272
Corpus Callosum, Partial Agenesis Of, X-Linked	Seizure, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:304100
Adenohypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95512
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intrauterine growth retardation, Agene...	OMIM:612863
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Neurofibromatosis, Type I	Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Seizure	OMIM:162200
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Intellectual Developmental Disorder, X-Linked 30	Short stature, Bilateral tonic-clonic seizure, Hydrocephalus, Generalized non-motor (absence) sei...	OMIM:300558
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Short stature	OMIM:619995
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Short stature, Postnatal growth retardation, Lateral ventricle dilatation, Intrauteri...	OMIM:611209
Joubert Syndrome 14	Encephalocele, Ataxia, Hydrocephalus, Meningocele, Growth delay, Hypoplasia of the brainstem, Mol...	OMIM:614424
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Brainstem dysplasia, Hydrocephalus, Seiz...	OMIM:608091
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Seizure, Lateral ventricle dilatation, Dilated third ventricle, Non-c...	ORPHA:544488
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Congenital Toxoplasmosis	Intrauterine growth retardation, Hydrocephalus, Seizure, Ventriculomegaly	ORPHA:858
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Seizure, Lateral ventricle dilatation, Unsteady gait, Ataxia	ORPHA:457279
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Intrauterine growth retardation, Abnormality of the diencephalon, Holoprosencephaly	ORPHA:2570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Joubert Syndrome With Oculorenal Defect	Encephalocele, Ataxia, Hydrocephalus, Seizure, Molar tooth sign on MRI	ORPHA:2318
Joubert Syndrome With Ocular Defect	Encephalocele, Ataxia, Hydrocephalus, Seizure, Gait disturbance, Molar tooth sign on MRI, Agenesi...	ORPHA:220493
Joubert Syndrome 17	Molar tooth sign on MRI, Ataxia	OMIM:614615
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia	OMIM:618161
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Tonic seizure, Hydrocephalus, Seizure, Hypoplasia of the brainstem, Agenesis of corpus callosum	OMIM:615249
Melanosis, Neurocutaneous	Choroid plexus papilloma, Seizure, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Houge-Janssens Syndrome 1	Multifocal seizures, Hydrocephalus, Gait ataxia, Seizure, Intrauterine growth retardation, Ventri...	OMIM:616355
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Duplication Of The Pituitary Gland	Encephalocele, Short stature, Abnormal midbrain morphology, Abnormal pituitary gland morphology, ...	ORPHA:314621
Aicardi Syndrome	Epileptic spasm, Infantile spasms, Spina bifida, Postnatal growth retardation, Partial agenesis o...	OMIM:304050
Developmental And Epileptic Encephalopathy 106	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo...	OMIM:620028
Biemond Syndrome Type 2	Hydrocephalus, Short stature, Delayed puberty	ORPHA:141333
Basel-Vanagaite-Smirin-Yosef Syndrome	Inability to walk, Seizure, Lateral ventricle dilatation, Difficulty walking, Dilated third ventr...	ORPHA:464738
Williams-Beuren Region Duplication Syndrome	Short stature, Decreased response to growth hormone stimulation test, Hydrocephalus, Seizure, Gai...	OMIM:609757
Pallister-Hall-Like Syndrome	Occipital encephalocele, Short stature, Hydrocephalus, Focal emotional seizure with crying, Hypot...	OMIM:241800
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:618354
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Bradykinesia, Myoclonus, Dilated third ventricle, Nocturn...	OMIM:619725
Leptin Receptor Deficiency	Short stature, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, A...	OMIM:614963
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short stature, Hydrocephalus, Seizure, Lateral ventricle dilatation, Dilated third ventricle	OMIM:619575
Bainbridge-Ropers Syndrome	Inability to walk, Growth delay, Seizure, Lateral ventricle dilatation, Intrauterine growth retar...	OMIM:615485
Craniopharyngioma	Enlarged pituitary gland, Proportionate short stature, Neoplasm of the anterior pituitary, Postna...	ORPHA:54595
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Pontocerebellar Hypoplasia, Type 7	Ataxia, Hypoplasia of the pons, Hydrocephalus, Choreoathetosis, Seizure, Hypoplasia of the brains...	OMIM:614969
Developmental And Epileptic Encephalopathy 31B	Multifocal seizures, Infantile spasms, Clonic seizure, Myoclonic seizure, Seizure, Colpocephaly, ...	OMIM:620352
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Seizure, Short stature, Ataxia	ORPHA:1861
Temple Syndrome	Postnatal growth retardation, Hydrocephalus, Short stature, Decreased response to growth hormone ...	ORPHA:254516
Intellectual Developmental Disorder, Autosomal Recessive 68	Seizure, Hydrocephalus	OMIM:618302
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Seizure, Gait disturbance, Holoprosencephaly	ORPHA:588
Weaver Syndrome	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Lateral ventric...	OMIM:277590
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Focal impaired awareness seizure, Generalized non-motor (absence) seizure	OMIM:616521
Aceruloplasminemia	Ataxia, Akinesia, Abnormal thalamic MRI signal intensity, Limb ataxia, Gait ataxia	ORPHA:48818
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Seizure, Colpocephaly, Infantile spasms	OMIM:618731
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Seizure, Hydrocephalus	OMIM:300886
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnormal cerebrospin...	ORPHA:68
Aicardi-Goutieres Syndrome 9	Intrauterine growth retardation, Lateral ventricle dilatation, Seizure	OMIM:619487
Joubert Syndrome 8	Molar tooth sign on MRI, Occipital encephalocele, Ataxia	OMIM:612291
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Seizure, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Bilateral Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:268940
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Seizure, Hydrocephalus	ORPHA:83473
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Seizure, Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Chronic Bilirubin Encephalopathy	Seizure, Abnormal thalamic MRI signal intensity	ORPHA:529808
Acute Bilirubin Encephalopathy	Seizure, Abnormal thalamic MRI signal intensity	ORPHA:529799
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Growth delay, Seizure, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620156
47,Xyy Syndrome	Seizure, Hydrocephalus, Abnormal brainstem morphology, Increased circulating gonadotropin level	ORPHA:8
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short stature, Tonic seizure, Seizure, Lateral ventricle dilatation, Atonic seizure, Focal emotio...	OMIM:618367
Linear Skin Defects With Multiple Congenital Anomalies 3	Seizure, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:602501
Hogue-Janssen Syndrome 2	Inability to walk, Hydrocephalus, Gait ataxia, Seizure, Agenesis of corpus callosum, Ventriculome...	OMIM:616362
Greig Cephalopolysyndactyly Syndrome	Seizure, Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Noonan Syndrome 14	Lateral ventricle dilatation, Short stature	OMIM:619745
Joubert Syndrome 38	Ectopic posterior pituitary, Short stature, Decreased response to growth hormone stimulation test...	OMIM:619476
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Craniofacial Dyssynostosis With Short Stature	Short stature, Hydrocephalus, Seizure, Agenesis of corpus callosum, Ventriculomegaly	OMIM:218350
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Osteopetrosis, Autosomal Recessive 7	Growth delay, Hydrocephalus, Hypocalcemic seizures, Lateral ventricle dilatation	OMIM:612301
Gabriele-De Vries Syndrome	Waddling gait, Intrauterine growth retardation, Lateral ventricle dilatation, Tip-toe gait	OMIM:617557
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Ataxia, Growth delay, Seizure, Molar tooth sign on MRI	OMIM:216360
Prader-Willi Syndrome Due To Translocation	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177907
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb...	ORPHA:352582
Dworschak-Punetha Neurodevelopmental Syndrome	Seizure, Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:619955
Optic Pathway Glioma	Growth delay, Seizure, Hydrocephalus	ORPHA:2086
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Hydrocephalus, Seizure, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Hydrocephalus, Generalized non-motor...	ORPHA:395
Amelocerebrohypohidrotic Syndrome	Seizure, Hydrocephalus, Short stature	ORPHA:1946
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Short stature	ORPHA:1516
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Joubert Syndrome 1	Enlarged fossa interpeduncularis, Hemifacial spasm, Ataxia, Brainstem dysplasia, Occipital myelom...	OMIM:213300
Halperin-Birk Syndrome	Generalized-onset seizure, Focal-onset seizure, Inability to walk, Colpocephaly, Intrauterine gro...	OMIM:618651
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia	OMIM:220220
Nasu-Hakola Disease	Seizure, Hydrocephalus, Ventriculomegaly	ORPHA:2770
Peho Syndrome	Infantile spasms, Hydrocephalus, Seizure, Atrophy/Degeneration affecting the brainstem, Ventricul...	ORPHA:2836
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Seizure, Hydrocephalus	OMIM:260500
Vitamin K Antagonist Embryofetopathy	Intrauterine growth retardation, Hydrocephalus, Seizure, Myelomeningocele	ORPHA:1914
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Short stature	OMIM:154400
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Short stature	ORPHA:2183
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short stature, Ataxia, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Ventriculome...	OMIM:619833
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Steppage gait, Inability to walk by childhood/adolescence	ORPHA:99947
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Hydrocephalus, Seizure, Hypoplasia of the brainstem, Kinked brainstem, Dandy-Wa...	OMIM:617822
Joubert Syndrome 37	Molar tooth sign on MRI, Short stature	OMIM:619185
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Gait disturbance	OMIM:236690
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Generalized myoclonic seizure, Abnormal pons morphology, Lateral ventricle dilatation	OMIM:300868
Charge Syndrome	Short stature, Aqueductal stenosis, Postnatal growth retardation, Holoprosencephaly, Delayed pube...	ORPHA:138
Greig Cephalopolysyndactyly Syndrome	Seizure, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Thanatophoric Dysplasia	Hydrocephalus, Seizure, Disproportionate short-limb short stature, Intrauterine growth retardatio...	ORPHA:2655
Helsmoortel-Van Der Aa Syndrome	Short stature, Decreased response to growth hormone stimulation test, Tonic seizure, Typical abse...	OMIM:615873
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Dysplastic corpu...	OMIM:617281
Krabbe Disease	Seizure, Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Mosaic Trisomy 1	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:1692
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Seizure, Colpocephaly, Agenesis of corpus callosum, V...	OMIM:615219
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the pons, Hydrocephalus	OMIM:620157
1Q44 Microdeletion Syndrome	Short stature, Bilateral tonic-clonic seizure, Hydrocephalus, Growth delay, Agenesis of corpus ca...	ORPHA:238769
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Abnormal midbrain morphology, Hypo...	ORPHA:444072
Orofaciodigital Syndrome Type 6	Short stature, Ataxia, Growth delay, Seizure, Gait disturbance, Hypothalamic hamartoma, Molar too...	ORPHA:2754
Infantile Sialic Acid Storage Disease	Seizure, Hydrocephalus	OMIM:269920
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Seizure, Co...	OMIM:620113
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Holoprosencephaly	ORPHA:2165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Seizure, Hypoplasia of the brainstem, Agenesis of corpus callosum, ...	OMIM:613150
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Gait disturbance	ORPHA:2181
Chiari Malformation Type Ii	Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus ca...	OMIM:207950
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital menin...	OMIM:616546
Oxoglutaric Aciduria	Hydrocephalus, Short stature, Ataxia	ORPHA:31
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Hydro...	ORPHA:91348
Bickerstaff Brainstem Encephalitis	Increased CSF protein concentration, CSF pleocytosis, Ataxia, Abnormal thalamic MRI signal intensity	ORPHA:79138
Focal Facial Dermal Dysplasia Type Iv	Focal-onset seizure, Hydrocephalus	ORPHA:398189
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Myelomeningocele	OMIM:306955
Griscelli Syndrome	Encephalocele, Short stature, Ataxia, Hydrocephalus, Seizure	ORPHA:381
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly	OMIM:109120
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Partial agenesis of the corpus callosum, Disproportionate short stature, Hydrocephalus, Severe po...	OMIM:210710
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Focal-onset seizure, Hydrocephalus, Seizure, Difficulty walking, Dandy-Walker malformatio...	OMIM:618476
Kabuki Syndrome 1	Short stature, Bilateral tonic-clonic seizure with focal onset, Postnatal growth retardation, Hyd...	OMIM:147920
Keppen-Lubinsky Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Lateral ventricle dilatation	OMIM:614098
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Disproportionate short-trunk short stature, Gait disturbance	OMIM:613330
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on...	ORPHA:501
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Short stature, Decreased response to growth hormone stimul...	ORPHA:1855
Fanconi Anemia, Complementation Group I	Short stature, Decreased response to growth hormone stimulation test, Colpocephaly, Intrauterine ...	OMIM:609053
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage, Seizure	ORPHA:464321
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Hypoplasia of the midbrain, Short stature, Ventriculomegaly	OMIM:616202
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Seizure, Hypoplasia of the brainstem, Holoprosencephaly, Agenesis o...	OMIM:253800
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Seizure, Hydrocephalus	ORPHA:171839
Edinburgh Malformation Syndrome	Seizure, Hydrocephalus	ORPHA:1895
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro...	ORPHA:1908
Metatropic Dysplasia	Hydrocephalus, Severe short stature	ORPHA:2635
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Joubert Syndrome 39	Molar tooth sign on MRI, Occipital encephalocele	OMIM:619562
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Short stature	ORPHA:2701
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Decreased response to growth hormone stimulation ...	OMIM:220210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus	OMIM:300863
Rabin-Pappas Syndrome	Hypoplasia of the pons, Seizure, Hydrocephalus	OMIM:620155
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Hydrocephalus, Seizure, Gait disturbance, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Semilobar Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep...	ORPHA:220386
Alobar Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Inability to walk, Hydrocep...	ORPHA:93924
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Short stature, Ventriculomegaly	OMIM:615630
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Short stature, Bilateral tonic-clonic seizure, Postnatal growth retardation, Hy...	OMIM:257300
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Growth delay, Seizure, Intrauterine growth retardation, Ventriculomegaly	OMIM:614576
Arima Syndrome	Dilated fourth ventricle, Ataxia, Brainstem dysplasia, Growth delay, Hypoplasia of the brainstem,...	OMIM:243910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplas...	OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Seizure, Hypoplas...	OMIM:236670
Temple Syndrome	Intrauterine growth retardation, Hydrocephalus, Short stature	OMIM:616222
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Congenital Disorder Of Glycosylation, Type Iim	Intrauterine growth retardation, Epileptic spasm, Seizure, Lateral ventricle dilatation	OMIM:300896
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Short stature, Hydrocephalus, Seizure, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:603387
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Seizure, Hypopituitarism	ORPHA:90065
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Multiple Sulfatase Deficiency	Ataxia, Short stature, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Orofaciodigital Syndrome Vi	Short stature, Hypothalamic hamartoma, Molar tooth sign on MRI, Occipital meningocele, Agenesis o...	OMIM:277170
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum, Focal impaired awareness seizure, Infant...	OMIM:618929
Biliary, Renal, Neurologic, And Skeletal Syndrome	Short stature, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Seizure, Latera...	OMIM:619534
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Intrauterine growth retardation, Hydrocephalus, Seizure, Dandy-Walker malformation	OMIM:612938
Tenorio Syndrome	Seizure, Hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:616260
Bresek Syndrome	Growth delay, Intrauterine growth retardation, Hydrocephalus	ORPHA:85284
Choreoacanthocytosis	Bilateral tonic-clonic seizure, Bradykinesia, Seizure, Lateral ventricle dilatation, Falls, Loss ...	ORPHA:2388
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Intrauterine growth retardation, Rhizomelia, Short stature, Hydrocephalus	ORPHA:163966
Joubert Syndrome	Encephalocele, Ataxia, Hydrocephalus, Seizure, Gait disturbance	ORPHA:475
Peroxisome Biogenesis Disorder 12A (Zellweger)	Growth delay, Seizure, Hydrocephalus, Short stature	OMIM:614886
Ventriculomegaly With Cystic Kidney Disease	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:219730
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation, Short stature	OMIM:181270
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation, Short stature	OMIM:619869
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized-onset seizure, Proportionate short stature, Dysplastic corpus callosum, Generalized n...	ORPHA:500150
Thanatophoric Dysplasia Type 1	Seizure, Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly	ORPHA:1860
Congenital Sialidosis Type 2	Ataxia, Hydrocephalus, Dysmetria, Seizure, Myoclonus	ORPHA:93400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation	OMIM:263520
Achondroplasia	Brain stem compression, Hydrocephalus, Neonatal short-limb short stature, Rhizomelia	OMIM:100800
Fg Syndrome Type 1	Broad-based gait, Short stature, Hydrocephalus, Seizure, Small pituitary gland, Ventriculomegaly	ORPHA:93932
Emanuel Syndrome	Hydrocephalus, Seizure, Intrauterine growth retardation, Dandy-Walker malformation, Ventriculomegaly	OMIM:609029
Chromosome 1P36 Deletion Syndrome, Distal	Epileptic spasm, Infantile spasms, Hydrocephalus, Growth delay, Seizure, Lateral ventricle dilata...	OMIM:607872
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir...	ORPHA:91350
Oculocerebrocutaneous Syndrome	Seizure, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Emanuel Syndrome	Ventriculomegaly, Hydrocephalus, Growth delay, Seizure, Intrauterine growth retardation, Agenesis...	ORPHA:96170
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Gracile Bone Dysplasia	Seizure, Hydrocephalus, Short stature	OMIM:602361
Desmosterolosis	Severe short stature, Hydrocephalus, Growth delay, Seizure, Status epilepticus, Intrauterine grow...	ORPHA:35107
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of c...	OMIM:617260
3C Syndrome	Short stature, Postnatal growth retardation, Hydrocephalus, Dandy-Walker malformation, Ventriculo...	ORPHA:7
Lhermitte-Duclos Disease	Seizure, Hydrocephalus, Ataxia	ORPHA:65285
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Hydrocephalus, Short stature	OMIM:616294
Pelvis-Shoulder Dysplasia	Waddling gait, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, ...	ORPHA:2839
Joubert Syndrome 5	Molar tooth sign on MRI, Occipital encephalocele, Ataxia, Thickened superior cerebellar peduncle	OMIM:610188
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Olivopontocerebellar hypoplasia, Hydrocephalus, Seizure, Agenesis of corpus callosum, Ventriculom...	ORPHA:457284
Tetrasomy 15Q26	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Albers-Schönberg Osteopetrosis	Hydrocephalus, Short stature	ORPHA:53
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Unsteady gait, Brain stem compression, Seizure	ORPHA:637
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Large Congenital Melanocytic Nevus	Seizure, Hydrocephalus	ORPHA:626
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Hydrocephalus, Disproportionate short stature, Seizure, Focal i...	OMIM:616482
Triploidy	Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Lowry-Maclean Syndrome	Growth delay, Intrauterine growth retardation, Hydrocephalus, Seizure	ORPHA:2409
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:77298
Chromosome 6Pter-P24 Deletion Syndrome	Seizure, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Tetrasomy 5P	Postnatal growth retardation, Seizure, Hydrocephalus	ORPHA:3309
Multiple Sulfatase Deficiency	Seizure, Hydrocephalus, Short stature	ORPHA:585
16Q24.3 Microdeletion Syndrome	Seizure, Colpocephaly, Ventriculomegaly	ORPHA:261250
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus, Short stature	OMIM:112240
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Short stature, Abnormal midbrain morphology, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Walker-Warburg Syndrome	Hydrocephalus, Seizure, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:899
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Peroxisome Biogenesis Disorder 5A (Zellweger)	Generalized-onset seizure, Seizure, Colpocephaly, Athetosis, Intrauterine growth retardation, Age...	OMIM:614866
Medulloblastoma	Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia asso...	ORPHA:616
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Inability to walk, Hydrocephalus, Seizure, Gait ...	ORPHA:2356
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Aprosencephaly	OMIM:601374
Dural Sinus Malformation	Myelopathy, Seizure, Hydrocephalus, Ataxia	ORPHA:97339
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Short stature, Ataxia, Inability to walk, Seizure, Colpocephaly	OMIM:620083
Trisomy 17P	Growth delay, Intrauterine growth retardation, Hydrocephalus, Short stature	ORPHA:261290
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Molar tooth sign on MRI, Encephalocele, Rhizomelia, Dandy-Walker malformation	OMIM:616300
Osteopetrosis, Autosomal Recessive 2	Seizure, Hydrocephalus	OMIM:259710
Mucopolysaccharidosis, Type Ii	Severe short stature, Short stature, Hydrocephalus, Seizure, Mild short stature	OMIM:309900
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Whipple Disease	Seizure, Hydrocephalus, Ataxia, Myoclonus	ORPHA:3452
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Fanconi Anemia, Complementation Group B	Growth delay, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly	OMIM:300514
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Gait disturbance, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Monosomy 18Q	Short stature, Hydrocephalus, Growth delay, Seizure, Choreoathetosis, Secondary growth hormone de...	ORPHA:1600
Cutis Laxa, Autosomal Recessive, Type Iib	Intrauterine growth retardation, Hydrocephalus, Agenesis of corpus callosum	OMIM:612940
Thanatophoric Dysplasia, Type I	Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb short stature	OMIM:187600
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Hydrocephalus, Seizure, Colpocephaly, Agenesis of corpus callosum	OMIM:309801
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Seizure, Hydrocephalus, Athetosis	OMIM:239300
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Arachnoiditis	Hydrocephalus	ORPHA:137817
Cerebrooculonasal Syndrome	Encephalocele, Postnatal growth retardation, Hydrocephalus, Seizure, Dandy-Walker malformation, V...	OMIM:605627
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2189
Holoprosencephaly 9	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:610829
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Short stature, Hydrocephalus, Disproportionate short-limb shor...	OMIM:101800
Desmosterolosis	Rhizomelia, Partial agenesis of the corpus callosum, Hydrocephalus, Seizure, Ventriculomegaly	OMIM:602398
Fanconi Anemia, Complementation Group R	Growth delay, Hydrocephalus	OMIM:617244
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Severe short stature, Neonatal short-limb short stature, Hydrocephalus	OMIM:224400
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ...	OMIM:249000
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:261344
Mirage Syndrome	Intrauterine growth retardation, Hydrocephalus, Seizure, Short stature	OMIM:617053
Osteopetrosis, Autosomal Recessive 5	Generalized-onset seizure, Short stature, Hydrocephalus, Growth delay, Seizure, Ventriculomegaly	OMIM:259720
Encephalocraniocutaneous Lipomatosis	Seizure, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:613001
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Ataxia, Hydrocephalus, Seizure, Gait disturbance	ORPHA:1454
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Partial agenesis of the corpus callosum, Molar tooth sign on MRI, Dilat...	ORPHA:434179
Osteopetrosis, Autosomal Recessive 1	Seizure, Hydrocephalus	OMIM:259700
Cerebral Visual Impairment	Seizure, Hydrocephalus	ORPHA:447788
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Achondroplasia	Hydrocephalus, Disproportionate short stature, Rhizomelia	ORPHA:15
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Crouzon Syndrome	Seizure, Hydrocephalus	OMIM:123500
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Spina bifida occulta, Short stature, Myelomeningocele	OMIM:613686
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
1Q21.1 Microdeletion Syndrome	Short stature, Hydrocephalus, Seizure, Intrauterine growth retardation, Agenesis of corpus callosum	ORPHA:250989
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Short stature	ORPHA:1834
Czeizel-Losonci Syndrome	Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida	ORPHA:2437
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Short stature, Focal-onset seizure, Inability to walk, Seizure, Lateral ventric...	ORPHA:261537
Adams-Oliver Syndrome	Encephalocele, Seizure, Hydrocephalus	ORPHA:974
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Infantile spasms, Hydrocephalus, Growth delay, Seizure, Intrauterine growth retardation, ...	ORPHA:79282
Genitopalatocardiac Syndrome	Intrauterine growth retardation, Hydrocephalus	ORPHA:2075
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Aymé-Gripp Syndrome	Short stature, Postnatal growth retardation, Hydrocephalus, Seizure, Febrile seizure (within the ...	ORPHA:1272
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Seizure, Hydrocephalus, Ventriculomegaly	OMIM:613603
15Q Overgrowth Syndrome	Hydrocephalus, Seizure, Intrauterine growth retardation, Agenesis of corpus callosum, Dandy-Walke...	ORPHA:314585
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Seizure, Hydrocephalus	OMIM:618590
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Severe short stature	ORPHA:1865
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Growth delay, Hydrocephalus, Short stature, Decreased response to growth hormone stimulation test	OMIM:616007
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Difficulty walking, Occipit...	ORPHA:268810
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Short stature, Ataxia	ORPHA:220295
Mucopolysaccharidosis, Type Vii	Postnatal growth retardation, Hydrocephalus, Severe short stature, Short stature	OMIM:253220
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Seizure, Colpocephaly, Agenesis of corpus callosum, Semilobar holoprose...	OMIM:301043
Khan-Khan-Katsanis Syndrome	Intrauterine growth retardation, Colpocephaly, Short stature, Ventriculomegaly	OMIM:618460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Seizure, Hypoplasia of the brainstem, Myoclonus, Ventriculomegaly	OMIM:253280
Distal Triplication 15Q	Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Short stature, Focal-onset seizure, Inability to walk, Seizure, Lateral ventric...	ORPHA:261552
7Q11.23 Microduplication Syndrome	Short stature, Hydrocephalus, Unsteady gait, Dysmetria, Growth delay, Seizure, Ventriculomegaly	ORPHA:96121
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Seizure, Hydrocephalus, Lethargy	OMIM:277400
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Marfanoid-Progeroid-Lipodystrophy Syndrome	Intrauterine growth retardation, Hydrocephalus, Lateral ventricular asymmetry	OMIM:616914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Seizure, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:228308
Spondyloepimetaphyseal Dysplasia, Krakow Type	Seizure, Hydrocephalus, Rhizomelia	OMIM:618162
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys...	ORPHA:63259
Dubowitz Syndrome	Short stature, Postnatal growth retardation, Hydrocephalus, Seizure, Intrauterine growth retardat...	ORPHA:235
Carnitine Palmitoyltransferase Ii Deficiency	Seizure, Hydrocephalus, Agenesis of corpus callosum	ORPHA:157
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele, Short stature	OMIM:130720
Isotretinoin-Like Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus	ORPHA:2306
Koolen-De Vries Syndrome Due To A Point Mutation	Generalized-onset seizure, Decreased response to growth hormone stimulation test, Spina bifida, P...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Generalized-onset seizure, Decreased response to growth hormone stimulation test, Spina bifida, P...	ORPHA:363958
Cardiofaciocutaneous Syndrome 1	Seizure, Hydrocephalus, Short stature	OMIM:115150
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	OMIM:264480
Orofaciodigital Syndrome I	Short stature, Hydrocephalus, Myelomeningocele, Seizure, Hypothalamic hamartoma, Agenesis of corp...	OMIM:311200
Wilson Disease	Seizure, Face of the giant panda sign	OMIM:277900
Gaucher Disease, Type Iiic	Seizure, Hydrocephalus	OMIM:231005
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus	OMIM:619951
Osteogenesis Imperfecta	Rhizomelia, Short stature, Ataxia, Hydrocephalus, Noncommunicating hydrocephalus, Growth delay, B...	ORPHA:666
Opitz-Kaveggia Syndrome	Seizure, Partial agenesis of the corpus callosum, Short stature, Hydrocephalus	OMIM:305450
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Apert Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:87
Holoprosencephaly	Encephalocele, Hydrocephalus, Spinal dysraphism, Seizure, Holoprosencephaly, Anterior hypopituita...	ORPHA:2162
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly, Ventriculomegaly	OMIM:612651
6Q Terminal Deletion Syndrome	Seizure, Colpocephaly, Dysmetria, Gait ataxia	ORPHA:75857
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:3301
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventriculomegaly, Broad-based gait, Ataxia, Infantile spasms, Clonic seizure, Focal-onset seizure...	OMIM:619475
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus	OMIM:314390
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Hydrocephalus, Limb atax...	ORPHA:2072
Smith-Lemli-Opitz Syndrome	Short stature, Partial agenesis of the corpus callosum, Hydrocephalus, Growth delay, Seizure, Col...	OMIM:270400
Mucopolysaccharidosis Type 3	Ataxia, Hydrocephalus, Seizure, Gait disturbance, Loss of ambulation, Ventriculomegaly	ORPHA:581
Monosomy 9Q22.3	Seizure, Hydrocephalus, Ventriculomegaly	ORPHA:77301
Mucopolysaccharidosis, Type Vi	Short stature, Hydrocephalus, Disproportionate short-trunk short stature, Seizure, Cervical myelo...	OMIM:253200
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Partial agenesis of the corpus callosum, Holoprosencephaly, Molar tooth ...	OMIM:615948
Hurler Syndrome	Hydrocephalus, Short stature	OMIM:607014
Gaucher Disease	Short stature, Bilateral tonic-clonic seizure, Ataxia, Hydrocephalus, Delayed puberty, Generalize...	ORPHA:355
Sturge-Weber Syndrome	Seizure, Hydrocephalus	ORPHA:3205
Histiocytoid Cardiomyopathy	Seizure, Hydrocephalus, Agenesis of corpus callosum, Lethargy	ORPHA:137675
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Postnatal growth retardation, Seizure, Hydrocephalus	ORPHA:536467
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Rhizomelia, Short stature, Hydrocephalus	OMIM:245600
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Disproportionate short stature, Rhizomelia	OMIM:260660
Mohr Syndrome	Hydrocephalus, Short stature	OMIM:252100
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Short-Rib Thoracic Dysplasia 12	Intrauterine growth retardation, Hydrocephalus, Anencephaly, Holoprosencephaly	OMIM:269860
Osteopathia Striata With Cranial Sclerosis	Short stature, Partial agenesis of the corpus callosum, Hydrocephalus, Seizure, Spina bifida occulta	OMIM:300373
H Syndrome	Hydrocephalus, Short stature, Delayed puberty	ORPHA:168569
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Hurler Syndrome	Growth delay, Hydrocephalus, Short stature	ORPHA:93473
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Apert Syndrome	Rhizomelic arm shortening, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:101200
Mend Syndrome	Seizure, Hydrocephalus, Short stature, Dandy-Walker malformation	ORPHA:401973
Mucopolysaccharidosis Type 1	Hydrocephalus, Short stature	ORPHA:579
Mend Syndrome	Seizure, Hydrocephalus, Short stature, Dandy-Walker malformation	OMIM:300960
Knobloch Syndrome	Seizure, Hydrocephalus, Occipital encephalocele	ORPHA:1571
Cardiofaciocutaneous Syndrome	Hydrocephalus, Short stature	ORPHA:1340
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Kabuki Syndrome	Seizure, Hydrocephalus, Short stature, Ventriculomegaly	ORPHA:2322
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus	OMIM:207410
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Seizure, Hydrocephalus, Short stature, Gait disturbance	ORPHA:3042
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Seizure, Hypoglycorrhachia, Increas...	ORPHA:228123
Williams Syndrome	Ataxia, Short stature, Abnormality of the diencephalon, Dysmetria, Gait disturbance, Gait imbalan...	ORPHA:904
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly	OMIM:618820
Marshall-Smith Syndrome	Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly	OMIM:602535
Jacobsen Syndrome	Intrauterine growth retardation, Hydrocephalus, Holoprosencephaly	OMIM:147791
Capillary Malformation-Arteriovenous Malformation	Seizure, Hydrocephalus	ORPHA:137667
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Raine Syndrome	Hydrocephalus, Short stature	OMIM:259775
Marden-Walker Syndrome	Severe short stature, Hydrocephalus, Growth delay, Intrauterine growth retardation, Agenesis of c...	ORPHA:2461
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Short stature, Postnatal growth retardation, Seizure, Intr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Short stature, Postnatal growth retardation, Seizure, Intr...	ORPHA:353277
Fanconi Anemia, Complementation Group L	Growth delay, Intrauterine growth retardation, Hydrocephalus	OMIM:614083
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract	OMIM:600145
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Hydrocephalus	ORPHA:505248
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Otopalatodigital Syndrome Type 2	Encephalocele, Hydrocephalus, Myelomeningocele	ORPHA:90652
Trisomy 8P	Seizure, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:264450
Stromme Syndrome	Hydrocephalus, Agenesis of corpus callosum	OMIM:243605
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Dextrocardia	Hydrocephalus	ORPHA:1666
Fanconi Anemia, Complementation Group D2	Agenesis of corpus callosum, Hydrocephalus, Short stature	OMIM:227646
Cryptococcosis	Seizure, Hydrocephalus	ORPHA:1546
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Wolf-Hirschhorn Syndrome	Short stature, Hydrocephalus, Growth delay, Seizure, Severe postnatal growth retardation, Intraut...	OMIM:194190
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus, Elevated circulating follicle stimulating hormone level, Elevated circulating lute...	ORPHA:95699
Glycogen Storage Disease Of Heart, Lethal Congenital	Seizure, Hydrocephalus	OMIM:261740
Neurofibromatosis Type 1	Short stature, Ataxia, Hydrocephalus, Seizure, Delayed puberty	ORPHA:636
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Hydrocephalus, Growth delay, Seizure, Status epilepticus, Agenesis of corpu...	ORPHA:2556
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Campomelic Dysplasia	Spina bifida, Hydrocephalus, Spinal dysraphism, Seizure, Disproportionate short-limb short statur...	OMIM:114290
22Q11.2 Deletion Syndrome	Short stature, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Seizure, Int...	ORPHA:567
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Fanconi Anemia	Short stature, Spina bifida, Hydrocephalus, Growth delay, Intrauterine growth retardation, Ventri...	ORPHA:84
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Peters Plus Syndrome	Rhizomelia, Short stature, Postnatal growth retardation, Hydrocephalus, Disproportionate short-li...	ORPHA:709
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus, Short stature	ORPHA:163979
Hajdu-Cheney Syndrome	Hydrocephalus, Short stature, Delayed puberty	ORPHA:955
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Norrie Disease	Seizure, Abnormality of the diencephalon, Delayed puberty	ORPHA:649
Lymphangioleiomyomatosis	Seizure, Hydrocephalus	ORPHA:538
Hajdu-Cheney Syndrome	Hydrocephalus, Short stature	OMIM:102500
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus, Severe short stature, Agenesis of corpus callosum	ORPHA:2658
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Wiedemann-Rautenstrauch Syndrome	Short stature, Ataxia, Decreased response to growth hormone stimulation test, Hydrocephalus, Grow...	ORPHA:3455
Distal 22Q11.2 Microduplication Syndrome	Seizure, Hydrocephalus	ORPHA:261337
Baller-Gerold Syndrome	Severe short stature, Short stature, Hydrocephalus, Seizure, Severe intrauterine growth retardati...	OMIM:218600
Peters-Plus Syndrome	Rhizomelia, Postnatal growth retardation, Hydrocephalus, Birth length less than 3rd percentile, S...	OMIM:261540
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Seizure, Hydrocephalus, Lower limb dysmetria, Short stature	ORPHA:363700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intrauterine growth retardation, Hydrocephalus, Short stature	OMIM:619321
Pseudoaminopterin Syndrome	Hydrocephalus, Short stature	ORPHA:221120
Limb Body Wall Complex	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	ORPHA:2369
Microphthalmia With Limb Anomalies	Hydrocephalus, Short stature	ORPHA:1106
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Fraser Syndrome 1	Encephalocele, Seizure, Hydrocephalus, Myelomeningocele	OMIM:219000
Wiedemann-Rautenstrauch Syndrome	Short stature, Hydrocephalus, Truncal ataxia, Intrauterine growth retardation, Agenesis of corpus...	OMIM:264090
Yunis-Varon Syndrome	Postnatal growth retardation, Agenesis of corpus callosum, Hydrocephalus, Short stature	ORPHA:3472
Costello Syndrome	Hydrocephalus, Short stature, Ventriculomegaly	OMIM:218040
Tetrasomy 9P	Intrauterine growth retardation, Hydrocephalus, Seizure, Dandy-Walker malformation	ORPHA:3310
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Hydrocephalus	ORPHA:667
Fontaine Progeroid Syndrome	Intrauterine growth retardation, Hydrocephalus, Short stature	OMIM:612289
Fetal Akinesia Deformation Sequence 1	Intrauterine growth retardation, Hydrocephalus	OMIM:208150
Focal Dermal Hypoplasia	Short stature, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum	OMIM:305600
Split Cord Malformation	Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele	ORPHA:573278
Otopalatodigital Syndrome, Type Ii	Postnatal growth retardation, Hydrocephalus, Short stature, Spina bifida	OMIM:304120
Oeis Complex	Hydrocephalus, Myelomeningocele	OMIM:258040
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Focal-onset seizure, Seizure, Hydrocephalus	OMIM:175780
Loeys-Dietz Syndrome 1	Hydrocephalus	OMIM:609192
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Genitopatellar Syndrome	Colpocephaly, Agenesis of corpus callosum	OMIM:606170
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Hydrocephalus, Frontal encephalocele, Severe intrauterine growth re...	OMIM:268300
Loeys-Dietz Syndrome 2	Hydrocephalus	OMIM:610168
Simpson-Golabi-Behmel Syndrome, Type 1	Hydrocephalus, Agenesis of corpus callosum	OMIM:312870
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Townes-Brocks Syndrome 1	Hydrocephalus, Holoprosencephaly	OMIM:107480
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum	OMIM:164210
Leukemia, Acute Lymphoblastic		OMIM:613065

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tal2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tal2.

No publications found that use IMPC mice or data for Tal2.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Tal2^em1(IMPC)H	Intra-exon deletion	Mice
Tal2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tal2^em2(IMPC)H	Intra-exon deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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