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

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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 (707 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	Seizure, Hydrocephalus, Hypoplasia of the pons, Midline brainstem cleft, Fusion of the left and r...	OMIM:617542
Tubulinopathy-Associated Dysgyria	Abnormality of thalamus morphology, Ventriculomegaly, Abnormal brainstem morphology, Ataxia, Hypo...	ORPHA:467166
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation, Focal-onset seizure, Generalized myoclonic seizure, Focal atonic se...	ORPHA:101071
Microphthalmia-Brain Atrophy Syndrome	Generalized-onset seizure, Lateral ventricle dilatation, Generalized myoclonic seizure, Focal hyp...	ORPHA:77299
Hydrocephalus, Congenital, 1	Hydrocephalus, Seizure, Ventriculomegaly	OMIM:236600
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Myoclonic seizure, Hypoplasia of the brainstem, Focal-onset seizure, Decreased thalamic volume	OMIM:619072
Polymicrogyria With Optic Nerve Hypoplasia	Hypoplasia of the brainstem, Seizure, Bilateral tonic-clonic seizure, Infantile spasms, Dysplasti...	ORPHA:250972
L1 Syndrome	Gait disturbance, Hydrocephalus, Seizure, Aqueductal stenosis	ORPHA:275543
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Seizure, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:2182
Pontocerebellar Hypoplasia, Type 12	Hypoplasia of the brainstem, Lateral ventricle dilatation	OMIM:618266
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Gait ataxia, Ventriculomegaly, Short stature, Bilateral tonic-clonic seizure, Atrophy/Degeneratio...	OMIM:617862
Holoprosencephaly 5	Syntelencephaly, Seizure, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephal...	OMIM:609637
Familial Acute Necrotizing Encephalopathy	Abnormality of thalamus morphology, Seizure, Abnormal brainstem morphology, Abnormal brainstem MR...	ORPHA:88619
Polymicrogyria Due To Tubb2B Mutation	Seizure, Abnormal brainstem morphology, Lateral ventricle dilatation, Focal-onset seizure, Hypopl...	ORPHA:300573
Bilateral Generalized Polymicrogyria	Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi...	ORPHA:208447
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Band Heterotopia	Seizure, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Agenesis of corpus callosum	OMIM:600348
Epilepsy, Progressive Myoclonic, 8	Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Atrophy/Degeneration affecting th...	OMIM:616230
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc...	OMIM:600512
Cach Syndrome	Seizure, Lateral ventricle dilatation, Truncal ataxia, T2 hypointense thalamus, Limb ataxia, Dysm...	ORPHA:135
Alexander Disease Type I	Seizure, Palatal tremor, Hydrocephalus, Ataxia, Abnormal thalamic MRI signal intensity	ORPHA:363717
Lissencephaly 3	Hypoplasia of the brainstem, Generalized tonic seizure, Seizure, Ventriculomegaly, Ataxia, Bilate...	OMIM:611603
Pontocerebellar Hypoplasia, Type 15	Myoclonic seizure, Hypoplasia of the brainstem, Focal-onset seizure, Hydrocephalus, Bilateral ton...	OMIM:619302
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	OMIM:307000
Lennox-Gastaut Syndrome	Generalized tonic seizure, Falls, Abnormal brainstem morphology, Focal-onset seizure, Myoclonus, ...	ORPHA:2382
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification, Limb ataxia, Seizure, Bradykinesia	OMIM:618824
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Seizure, Lateral ventricle dilatation, Scissor gait, Bradykinesia	ORPHA:363654
Pontocerebellar Hypoplasia, Type 1A	Hypoplasia of the ventral pons, Lateral ventricle dilatation, Limb ataxia, Ataxia, Hypoplasia of ...	OMIM:607596
Joubert Syndrome 31	Truncal ataxia, Molar tooth sign on MRI, Ventriculomegaly	OMIM:617761
Developmental And Epileptic Encephalopathy 9	Ventriculomegaly, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal h...	OMIM:300088
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Hydrocephalus, Seizure, Ventriculomegaly	OMIM:618709
New-Onset Refractory Status Epilepticus	Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, CSF pleocytosis, Status epile...	ORPHA:363558
Epilepsy, Pyridoxine-Dependent	Generalized myoclonic seizure, Hydrocephalus, Status epilepticus, Clonic seizure, Bilateral tonic...	OMIM:266100
Intellectual Developmental Disorder, Autosomal Dominant 56	Seizure, Inability to walk, Lateral ventricle dilatation, Myoclonus, Ataxia, Pontocerebellar atro...	OMIM:617854
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus, Seizure	ORPHA:2807
Lissencephaly 4	Seizure, Short stature, Growth delay, Agenesis of corpus callosum, Colpocephaly	OMIM:614019
Corpus Callosum Agenesis-Neuronopathy Syndrome	Seizure, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
Joubert Syndrome 3	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Lateral ventricle dilatation, At...	OMIM:608629
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Seizure, Ventriculomegaly	OMIM:615937
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Myoclonic seizure, Seizure, Inability to walk, Lateral ventricle dilatation, Bilateral tonic-clon...	OMIM:615716
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Ventriculomegaly, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bila...	OMIM:616540
Joubert Syndrome 36	Seizure, Molar tooth sign on MRI	OMIM:618763
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Combined Oxidative Phosphorylation Deficiency 51	Myoclonus, Severe short stature, Growth delay, Focal T2 hyperintense thalamic lesion, Intrauterin...	OMIM:619057
Pineocytoma	Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration	ORPHA:251912
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Hypoplasia of the ...	OMIM:618736
Gómez-López-Hernández Syndrome	Ataxia, Short stature, Hydrocephalus, Abnormal brainstem morphology	ORPHA:1532
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Hypoplasia of the brainstem, Seizure, Abnormal brainstem morphology, Ve...	ORPHA:370959
Arnold-Chiari Malformation Type Ii	Meningocele, Myelomeningocele, Aqueductal stenosis, Seizure, Ventriculomegaly, Agenesis of corpus...	ORPHA:1136
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Occipital encephalocele, Hypoplasia of the brainstem, Seizure	ORPHA:352682
Developmental And Epileptic Encephalopathy 99	Ventriculomegaly, Focal-onset seizure, Eyelid myoclonus, Status epilepticus, Focal hemiclonic sei...	OMIM:619606
Developmental And Epileptic Encephalopathy 15	Myoclonic seizure, Inability to walk, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic...	OMIM:615006
Pyruvate Dehydrogenase E1-Alpha Deficiency	Seizure, Ventriculomegaly, Lateral ventricle dilatation, Increased CSF lactate, Inability to walk...	ORPHA:79243
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Decreased thalamic volume	OMIM:618646
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Seizure, Ataxia	ORPHA:99966
Intellectual Developmental Disorder, X-Linked 103	Seizure, Lateral ventricle dilatation	OMIM:300982
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Myoclonic seizure, Focal motor seizure, Lateral ventricle dilatation, Tonic seizure, Infantile sp...	OMIM:618890
Chudley-Mccullough Syndrome	Seizure, Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum, Dysplastic cor...	OMIM:604213
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Seizure, Inability to walk, Ventriculomegaly, Lateral ventricle dilatation	OMIM:613443
Pontocerebellar Hypoplasia, Type 13	Gait ataxia, Inability to walk, Lateral ventricle dilatation, Status epilepticus, Hypoplasia of t...	OMIM:618606
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Gait disturbance, Myoclonus, T2 hypointense thalamus, Seizure	OMIM:618193
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Difficulty walking, Lateral ventricle dilatation	ORPHA:306669
Developmental And Epileptic Encephalopathy 59	Ventriculomegaly, Inability to walk, Focal clonic seizure, Ataxia, Tonic seizure, Bilateral tonic...	OMIM:617904
Malan Overgrowth Syndrome	Hypoplasia of the brainstem, Seizure, Ventriculomegaly, Lateral ventricle dilatation, Episodic at...	ORPHA:420179
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Seizure	ORPHA:2703
Pontocerebellar Hypoplasia, Type 14	Myoclonic seizure, Hypoplasia of the brainstem, Focal-onset seizure, Hypoplasia of the pons, Bila...	OMIM:619301
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Hypoplasia of the brainstem, Abnormality of thalamus morphology, Seizure, Lateral ventricle dilat...	ORPHA:300570
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly	OMIM:611808
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Dysmetria, Thalamic calcification, Bradykinesia	OMIM:618317
Slc35A2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Seizure, Lateral ventricle dilata...	ORPHA:356961
Neuroferritinopathy	Iron accumulation in substantia nigra, Palatal tremor, T2 hypointense thalamus, Abnormal thalamic...	ORPHA:157846
D-2-Hydroxyglutaric Aciduria 1	Myoclonic seizure, Seizure, Lateral ventricle dilatation, Tonic seizure, Subependymal cysts, Bila...	OMIM:600721
Developmental And Epileptic Encephalopathy 54	Seizure, Ventriculomegaly, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic ...	OMIM:617391
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Gait ataxia, Gait imbalance, Seizure, Abnormal lateral ventricle morphology, Bilateral tonic-clon...	ORPHA:488635
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Gait ataxia, Seizure, Inability to walk, Generalized myoclonic seizure, T2 hypointense thalamus, ...	ORPHA:1947
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Hypoplasia of the brainstem, Seizure, Lateral ventricle dilatation, Int...	OMIM:617751
Succinic Semialdehyde Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia	ORPHA:22
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Seizure, Focal motor seizure, Akinesia, Freezing of gait, Bilateral tonic-clonic seizure, Thinnin...	OMIM:619911
Vacterl Association With Hydrocephalus	Hydrocephalus, Aqueductal stenosis	OMIM:276950
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Short stature, Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Joubert Syndrome 25	Molar tooth sign on MRI, Ataxia	OMIM:616781
Methylmalonic Acidemia With Homocystinuria	Lethargy, Hydrocephalus, Gait disturbance, Seizure	ORPHA:26
Alg2-Cdg	Infantile spasms, Seizure, Lateral ventricle dilatation	ORPHA:79326
Dravet Syndrome	Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure...	OMIM:607208
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Myoclonic seizure, Lateral ventricle dilatation, Focal-onset seizure, Tonic seizure, Partial agen...	OMIM:619517
Coasy Protein-Associated Neurodegeneration	Abnormality of thalamus morphology, Difficulty walking	ORPHA:397725
Leigh Syndrome With Cardiomyopathy	Abnormality of thalamus morphology, Seizure, Abnormal brainstem morphology, Ventriculomegaly, Abn...	ORPHA:70474
Joubert Syndrome 30	Dandy-Walker malformation, Seizure, Molar tooth sign on MRI, Ventriculomegaly	OMIM:617622
Japanese Encephalitis	Abnormal substantia nigra morphology, Abnormality of thalamus morphology, Focal motor seizure, CS...	ORPHA:79139
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Oculocerebral Hypopigmentation Syndrome, Preus Type	Seizure, Abnormal brainstem morphology, Short stature, Hydrocephalus, Ataxia, Abnormality of the ...	ORPHA:2720
Martsolf Syndrome 2	Short stature, Lateral ventricle dilatation	OMIM:619420
Leukoencephalopathy, Progressive, With Ovarian Failure	Ataxia, Lateral ventricle dilatation	OMIM:615889
Combined Oxidative Phosphorylation Defect Type 23	Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Seizure	ORPHA:444013
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Seizure, Lateral ventricle dilatation, Myoclonus, Epileptic spasm, Intrauterine growth retardation	ORPHA:284417
Myoclonic Epilepsy, Familial Infantile	Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Seizure, Focal-onset ...	OMIM:605021
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Hypoplasia of the brainstem, Seizure, Lateral ventricle dilatation, Ven...	ORPHA:572798
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Myoclonus, Gait disturbance, Seizure, Lateral ventricle dilatation	OMIM:221770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Hypoplasi...	OMIM:613154
Orofaciodigital Syndrome Xv	Agenesis of corpus callosum, Molar tooth sign on MRI, Ventriculomegaly	OMIM:617127
Meckel Syndrome 13	Occipital encephalocele, Molar tooth sign on MRI, Ataxia	OMIM:617562
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Seizure, Lateral ventricle dilatation, Loss of ambulation, Increased CSF lactate, A...	ORPHA:565624
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Seizure, Fusion o...	OMIM:619306
Joubert Syndrome 9	Encephalocele, Seizure, Molar tooth sign on MRI, Ventriculomegaly	OMIM:612285
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia, Agenesis of corpus callosum	OMIM:166990
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Seizure, Ventriculomegaly, Focal-onset seizure, Myoclonus, Ataxia, Bilateral tonic-c...	OMIM:615362
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Seizure, Lateral ventricle dilatation	OMIM:617668
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Seizure, Inability to walk, Lateral ventricle dilatation, H...	ORPHA:2822
Combined Oxidative Phosphorylation Defect Type 7	Inability to walk, Abnormal brainstem MRI signal intensity, Ataxia, Impaired tandem gait, Abnorma...	ORPHA:254930
Masa Syndrome	Shuffling gait, Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:303350
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele, Anterior hypopituitarism, Central diabetes insipidus, Hypoplasia of the ...	ORPHA:280195
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni...	OMIM:618396
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Seizure, Lateral ventricle dilatation, Myoclonus, Severe postnatal grow...	ORPHA:3078
Lissencephaly 5	Hydrocephalus, Occipital encephalocele, Hypoplasia of the brainstem, Seizure	OMIM:615191
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the brainstem, Seizure, Ventriculomegaly, Akinesia, Agenesis of corpus callosum, Hy...	OMIM:225790
Galloway-Mowat Syndrome	Seizure, Aqueductal stenosis, Short stature, Intrauterine growth retardation	ORPHA:2065
Neurodevelopmental Disorder With Involuntary Movements	Ventriculomegaly, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Infantile spa...	OMIM:617493
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Intrauterine growth retardation	ORPHA:3035
Global Developmental Delay With Or Without Impaired Intellectual Development	Short stature, Lateral ventricle dilatation	OMIM:618330
Dandy-Walker Syndrome	Truncal ataxia, Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Cog5-Cdg	Seizure, Lateral ventricle dilatation, Short stature, Truncal ataxia, Atrophy/Degeneration affect...	ORPHA:263487
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical...	OMIM:607682
Holoprosencephaly 14	Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Alobar holoprosencephaly, Subependymal cyst...	OMIM:619895
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Joubert Syndrome 10	Growth delay, Molar tooth sign on MRI	OMIM:300804
Acute Disseminated Encephalomyelitis	Seizure, Abnormal brainstem MRI signal intensity, Atypical absence status epilepticus, Ataxia, CS...	ORPHA:83597
Developmental And Epileptic Encephalopathy 36	Myoclonic seizure, Seizure, Hydrocephalus, Tonic seizure, Atonic seizure, Infantile spasms	OMIM:300884
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se...	ORPHA:306
Joubert Syndrome 6	Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superio...	OMIM:610688
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Gait ataxia, Seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c...	OMIM:617831
Hydranencephaly	Thalamic edema, Seizure, Ventriculomegaly, Atrophic pituitary gland, Dysgenesis of the thalamus, ...	ORPHA:2177
Joubert Syndrome 4	Ataxia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cereb...	OMIM:609583
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Seizure	ORPHA:1008
Acrofacial Dysostosis, Rodríguez Type	Arrhinencephaly, Aqueductal stenosis, Intrauterine growth retardation	ORPHA:1788
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Perioral Myoclonia With Absences	Chin myoclonus, Focal seizure with eyelid myoclonia, Falls, Generalized myoclonic seizure, Bilate...	ORPHA:139426
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased CSF lactate, Status epilepticus, Focal T2 hyperintense thalamic lesion, Ataxia	OMIM:619046
X-Linked Intellectual Disability, Wilson Type	Growth delay, Seizure, Lateral ventricle dilatation	ORPHA:85290
Alexander Disease	Seizure, Palatal tremor, Hydrocephalus, Ataxia, Dysmetria, Increased CSF protein concentration	OMIM:203450
Epilepsy, Progressive Myoclonic, 6	Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, ...	OMIM:614018
Joubert Syndrome 16	Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation	OMIM:614465
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure with focal onset, Gait imbalance, Seizure, Ventriculomegaly, Later...	ORPHA:488627
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure, Lateral ventricle dilatation	OMIM:619278
Alg13-Cdg	Infantile spasms, Abnormal lateral ventricle morphology	ORPHA:324422
Leukoencephalopathy With Dystonia And Motor Neuropathy	Abnormality of thalamus morphology	OMIM:613724
Glutamine Deficiency, Congenital	Subependymal cysts, Decreased CSF glutamine concentration, Seizure, Lateral ventricle dilatation	OMIM:610015
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Sandhoff Disease, Infantile Form	Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Abnormal thalamic MRI sign...	ORPHA:309155
Joubert Syndrome 33	Molar tooth sign on MRI, Ataxia	OMIM:617767
Central Neurocytoma	Lethargy, Hydrocephalus, Abnormal lateral ventricle morphology, Ataxia	ORPHA:73256
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Gait ataxia, Absence seizure with eyelid myoclonia, Truncal ataxia, Myoclonus, Generalized myoclo...	OMIM:618587
Juvenile Neuronal Ceroid Lipofuscinosis	Seizure, Myoclonic spasms, Bilateral tonic-clonic seizure, Loss of ambulation, Focal T2 hyperinte...	ORPHA:79264
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Abnormality of thalamus morphology, Short stature	ORPHA:557003
Developmental And Epileptic Encephalopathy 49	Seizure, Ventriculomegaly, Myoclonus, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Coach Syndrome 2	Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:619111
Developmental And Epileptic Encephalopathy 109	Myoclonic seizure, Gait ataxia, Typical absence seizure, Crouch gait, Myoclonus, Focal hemiclonic...	OMIM:620145
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Short stature, Myoclonus, Ataxia, Increased CSF alanine concentration, Bilateral tonic-clonic sei...	OMIM:619065
Oxoglutarate Dehydrogenase Deficiency	Gait ataxia, Ventriculomegaly, Falls, Bilateral tonic-clonic seizure, Dysmetria, Unsteady gait	OMIM:203740
Developmental And Epileptic Encephalopathy 24	Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei...	OMIM:615871
Pettigrew Syndrome	Gait ataxia, Seizure, Ventriculomegaly, Choreoathetosis, Hydrocephalus, Dandy-Walker malformation	OMIM:304340
Fanconi Anemia, Complementation Group R	Hydrocephalus, Growth delay	OMIM:617244
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Seizure, Broad-based gait	OMIM:619470
Continuous Spikes And Waves During Sleep	Typical absence seizure, Seizure, Focal motor seizure, Focal-onset seizure, Focal aware seizure, ...	ORPHA:725
Developmental And Epileptic Encephalopathy 94	Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta...	OMIM:615369
Leigh Syndrome	Seizure, Increased CSF lactate, Abnormal brainstem MRI signal intensity, Choreoathetosis, Status ...	ORPHA:506
Adams-Oliver Syndrome 2	Hydrocephalus, Seizure, Lateral ventricle dilatation	OMIM:614219
3P25.3 Microdeletion Syndrome	Abnormality of thalamus morphology, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic...	ORPHA:435638
Congenital Hydrocephalus	Hydrocephalus, Seizure, Ventriculomegaly, Colpocephaly	ORPHA:2185
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Febrile seizure (within the age range of 3 months to 6 years), Seizure, Lateral ventricle dilatat...	OMIM:619847
Joubert Syndrome 20	Molar tooth sign on MRI, Inability to walk	OMIM:614970
Kohlschutter-Tonz Syndrome-Like	Generalized clonic seizure, Generalized tonic seizure, Seizure, Lateral ventricle dilatation, Ven...	OMIM:619229
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o...	OMIM:604403
Kohlschutter-Tonz Syndrome	Myoclonic seizure, Seizure, Ventriculomegaly, Focal-onset seizure, Ataxia, Bilateral tonic-clonic...	OMIM:226750
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Rhizomelic arm shortening, Dilated third ventricle, Rhizomelic leg shortening, Molar...	ORPHA:397715
Joubert Syndrome 27	Gait ataxia, Molar tooth sign on MRI, Ataxia	OMIM:617120
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Seizure, Abnormal brainstem morphology, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
Paganini-Miozzo Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Lateral ventricle dilatation	OMIM:301025
Meckel Syndrome, Type 10	Dilated fourth ventricle, Seizure, Molar tooth sign on MRI, Anencephaly, Occipital encephalocele,...	OMIM:614175
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Intrauterine gro...	OMIM:611134
Joubert Syndrome 15	Molar tooth sign on MRI, Ataxia	OMIM:614464
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Rhombencephalosynapsis	Hydrocephalus, Fusion of the left and right thalami, Ventriculomegaly, Ataxia	ORPHA:59315
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Seizure, Short stature, Communicating hydrocephalus, Ataxia, Decreased thalami...	ORPHA:168577
Pfeiffer Syndrome Type 2	Hydrocephalus, Seizure, Aqueductal stenosis	ORPHA:93259
Developmental And Epileptic Encephalopathy 67	Generalized myoclonic seizure, Gait disturbance, Focal hemiclonic seizure, Tonic seizure, Bilater...	OMIM:618141
Pseudo-Torch Syndrome 2	Lethargy, Seizure, Ventriculomegaly, Lateral ventricle dilatation	OMIM:617397
Joubert Syndrome 28	Molar tooth sign on MRI, Ataxia	OMIM:617121
Episodic Ataxia, Type 5	Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a...	OMIM:613855
Craniosynostosis 6	Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle d...	OMIM:616602
Generalized Epilepsy With Febrile Seizures-Plus	Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Bradyki...	ORPHA:36387
Brain Small Vessel Disease 2	Focal-onset seizure, Bilateral tonic-clonic seizure, Ventriculomegaly, Growth delay	OMIM:614483
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Biemond Syndrome Ii	Hydrocephalus, Short stature	OMIM:210350
Glutaric Acidemia I	Choreoathetosis, Hydrocephalus, Seizure, Lateral ventricle dilatation	OMIM:231670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hypoplasia of the brainstem, Hydrocephalus, Inability to walk	OMIM:613155
Developmental And Epileptic Encephalopathy 6B	Myoclonic seizure, Inability to walk, Focal-onset seizure, Myoclonus, Choreoathetosis, Status epi...	OMIM:619317
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Ventriculomegaly, Lateral ventricle dilatation, Small pituitary gland, D...	OMIM:619479
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Developmental And Epileptic Encephalopathy 13	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit...	OMIM:614558
Autosomal Dominant Epilepsy With Auditory Features	Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ...	ORPHA:101046
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Febrile seizure (within the age range of 3 months to 6 years), Abnormality of thalamus morphology...	ORPHA:404440
Pfeiffer Syndrome Type 1	Aqueductal stenosis	ORPHA:93258
Peroxisome Biogenesis Disorder 6A (Zellweger)	Seizure, Colpocephaly	OMIM:614870
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Hypoplasia of the brainstem, Ventriculomegaly, Focal-onset seizure, Bil...	ORPHA:171680
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Joubert Syndrome 18	Molar tooth sign on MRI, Arrhinencephaly, Occipital encephalocele, Intrauterine growth retardatio...	OMIM:614815
Holoprosencephaly 7	Hypoplasia of the brainstem, Seizure, Hydrocephalus, Semilobar holoprosencephaly, Panhypopituitar...	OMIM:610828
Meningioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Seizure, Neoplasm of the...	ORPHA:2495
Joubert Syndrome 7	Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Ataxia, Brainstem dysplasia	OMIM:611560
Developmental Delay And Seizures With Or Without Movement Abnormalities	Short stature, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonic a...	OMIM:617836
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Tip-toe gait, Spastic gait, Lateral ventricle dilatation, Partial agenes...	OMIM:617296
Developmental And Epileptic Encephalopathy 42	Myoclonic seizure, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Co...	OMIM:617106
Adult Krabbe Disease	Gait disturbance, Ataxia, Abnormal midbrain morphology, Increased CSF protein concentration, Abno...	ORPHA:206448
Developmental And Epileptic Encephalopathy 52	Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei...	OMIM:617350
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo...	OMIM:616172
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Spina bifida occulta, Ventriculomegaly, Lateral ven...	OMIM:618291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hypoplasia of the brainstem, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Hypopl...	OMIM:613153
Tay-Sachs Disease	Typical absence seizure, Seizure, Ventriculomegaly, Inability to walk, Myoclonus, Gait disturbanc...	ORPHA:845
1Q21.1 Microduplication Syndrome	Hydrocephalus, Seizure	ORPHA:250994
Coach Syndrome 3	Molar tooth sign on MRI, Ataxia	OMIM:619113
Orofaciodigital Syndrome Xvi	Ataxia, Inability to walk, Molar tooth sign on MRI, Ventriculomegaly	OMIM:617563
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Agenesis of corpus callosum, Dilated third ventricle, Seizure, Lateral ventricle dilatation	OMIM:619244
Central Precocious Puberty	Proportionate short stature, Increased circulating gonadotropin level, Hypothalamic hamartoma, Hy...	ORPHA:759
Methylcobalamin Deficiency Type Cble	Hypoplasia of the brainstem, Seizure, Ventriculomegaly, Hydrocephalus, Lethargy, Intrauterine gro...	ORPHA:2169
Alexander Disease	Seizure, Aqueductal stenosis, Hydrocephalus, Gait disturbance, Ataxia, Agenesis of corpus callosum	ORPHA:58
Female Restricted Epilepsy With Intellectual Disability	Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera...	ORPHA:101039
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Intrauterine growth retardation	OMIM:251230
Frontal Encephalocele	Spina bifida, Hydrocephalus, Encephalocele, Seizure	ORPHA:1931
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Generalized-onset seizure, Seizure, Lateral ventricle dilatation, Focal-onset seizure, Infantile ...	ORPHA:2148
Panhypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95513
Joubert Syndrome 32	Molar tooth sign on MRI, Ataxia	OMIM:617757
Lissencephaly 9 With Complex Brainstem Malformation	Myoclonic seizure, Hypoplasia of the brainstem, Seizure, Short stature, Hypoplasia of the pons, B...	OMIM:618325
Pfeiffer Syndrome Type 3	Seizure, Aqueductal stenosis	ORPHA:93260
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Hypoplasia of the brainstem, Hydrocephalus	OMIM:615181
Vacterl With Hydrocephalus	Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydrocephalus, Intrauterine growth retardation	ORPHA:3412
Progeria-Short Stature-Pigmented Nevi Syndrome	Delayed puberty, Abnormality of thalamus morphology, Broad-based gait, Short stature	ORPHA:2959
Fried Syndrome	Hydrocephalus, Gait disturbance	ORPHA:85335
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Myoclonic seizure, Aqueductal stenosis, Elongated superior cerebellar peduncle, Hydrocephalus, To...	OMIM:619512
Joubert Syndrome With Renal Defect	Encephalocele, Seizure, Molar tooth sign on MRI, Hydrocephalus, Gait disturbance, Ataxia, Agenesi...	ORPHA:220497
Distal Monosomy 10Q	Seizure, Lateral ventricle dilatation, Short stature, Ataxia, Spina bifida occulta, Unsteady gait...	ORPHA:96148
Aicardi-Goutieres Syndrome 4	Seizure, Ventriculomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Intrauterine growth retar...	OMIM:610333
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Gait ataxia, Myoclonus, Abnormal thalamic MRI signal intensity, Seizure	ORPHA:70595
Joubert Syndrome 22	Molar tooth sign on MRI, Intrauterine growth retardation	OMIM:615665
Giant Axonal Neuropathy 1, Autosomal Recessive	Steppage gait, Lateral ventricle dilatation	OMIM:256850
Chromosome 6Q24-Q25 Deletion Syndrome	Lateral ventricle dilatation, Hydrocephalus, Growth delay, Intrauterine growth retardation, Agene...	OMIM:612863
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Seizure, Ventriculomegaly	OMIM:618667
Papillary Tumor Of The Pineal Region	Hydrocephalus, Episodic ataxia, Difficulty walking, Increased CSF protein concentration	ORPHA:251915
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Growth delay, Epileptic spasm, Abnormal thalamic MRI signal intensity, Seizure	ORPHA:485421
Autosomal Recessive Spastic Paraplegia Type 66	Difficulty walking, Spastic gait, Colpocephaly	ORPHA:401815
Progressive Myoclonic Epilepsy Type 3	Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My...	ORPHA:263516
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Tonic seizure, Lateral ventricle dilatation	OMIM:620075
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Holoprosencephaly, Abnormality of the diencephalon, Intrauterine growth retardation	ORPHA:2570
Corpus Callosum, Partial Agenesis Of, X-Linked	Partial agenesis of the corpus callosum, Hydrocephalus, Seizure	OMIM:304100
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei...	OMIM:616685
Congenital Muscular Dystrophy, Fukuyama Type	Seizure, Ventriculomegaly, Hydrocephalus, Gait disturbance, Intrauterine growth retardation	ORPHA:272
Adenohypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95512
Neurofibromatosis, Type I	Seizure, Aqueductal stenosis, Short stature, Spina bifida, Hydrocephalus	OMIM:162200
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton...	OMIM:613863
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609253
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604352
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Joubert Syndrome 14	Meningocele, Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Hydrocephalus, ...	OMIM:614424
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Short stature, Lateral ventricle dilatation, Intrauterine growth retardation, Postnat...	OMIM:611209
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Short stature, Lateral ventricle dilatation	OMIM:619995
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Joubert Syndrome 2	Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Elongated superior cerebella...	OMIM:608091
Intellectual Developmental Disorder, X-Linked 30	Seizure, Short stature, Hydrocephalus, Bilateral tonic-clonic seizure, Generalized non-motor (abs...	OMIM:300558
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Joubert Syndrome With Oculorenal Defect	Encephalocele, Seizure, Molar tooth sign on MRI, Hydrocephalus, Ataxia	ORPHA:2318
Congenital Toxoplasmosis	Hydrocephalus, Seizure, Ventriculomegaly, Intrauterine growth retardation	ORPHA:858
Joubert Syndrome With Ocular Defect	Encephalocele, Seizure, Molar tooth sign on MRI, Hydrocephalus, Gait disturbance, Ataxia, Agenesi...	ORPHA:220493
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Unsteady gait, Seizure, Lateral ventricle dilatation	ORPHA:457279
Juvenile Absence Epilepsy	Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon...	ORPHA:1941
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Seizure, Lateral ventricle dilatation, Non-convulsive status epilepticus...	ORPHA:544488
Epilepsy, Familial Temporal Lobe, 2	Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton...	OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m...	OMIM:613060
Joubert Syndrome 17	Molar tooth sign on MRI, Ataxia	OMIM:614615
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Seizure, Lateral ventricle dilatation, Short stature, Hydrocephalus	OMIM:619575
Duplication Of The Pituitary Gland	Encephalocele, Short stature, Abnormal hypothalamus morphology, Abnormal midbrain morphology, Abn...	ORPHA:314621
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Seizure, Dandy-Walker malformation	OMIM:249400
Aicardi Syndrome	Dilated third ventricle, Seizure, Lateral ventricle dilatation, Spina bifida, Choroid plexus cyst...	OMIM:304050
Joubert Syndrome 35	Ataxia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle	OMIM:618161
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hypoplasia of the brainstem, Seizure, Hydrocephalus, Tonic seizure, Agenesis of corpus callosum	OMIM:615249
Biemond Syndrome Type 2	Delayed puberty, Hydrocephalus, Short stature	ORPHA:141333
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities	Bilateral tonic-clonic seizure with focal onset, Hypoplasia of the brainstem, Ventriculomegaly, F...	OMIM:618354
Craniopharyngioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Seizure, Neoplasm of the...	ORPHA:54595
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604233
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Seizure, Inability to walk, Lateral ventricle dilatation, Difficulty wal...	ORPHA:464738
Bainbridge-Ropers Syndrome	Seizure, Inability to walk, Lateral ventricle dilatation, Growth delay, Intrauterine growth retar...	OMIM:615485
Pallister-Hall-Like Syndrome	Short stature, Anterior hypopituitarism, Hydrocephalus, Focal emotional seizure with crying, Occi...	OMIM:241800
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Short stature, Abnormal hypothalamus morph...	OMIM:614963
Intellectual Developmental Disorder, Autosomal Dominant 35	Gait ataxia, Seizure, Ventriculomegaly, Hydrocephalus, Multifocal seizures, Intrauterine growth r...	OMIM:616355
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Pontocerebellar Hypoplasia, Type 7	Hypoplasia of the brainstem, Seizure, Ventriculomegaly, Myoclonus, Hydrocephalus, Choreoathetosis...	OMIM:614969
Thoracic Dysplasia-Hydrocephalus Syndrome	Short stature, Communicating hydrocephalus, Seizure, Ataxia	ORPHA:1861
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Seizure, Ventriculomegaly, Short stature, ...	OMIM:609757
Muscle-Eye-Brain Disease	Meningocele, Seizure, Hydrocephalus, Gait disturbance, Holoprosencephaly	ORPHA:588
Temple Syndrome	Short stature, Hydrocephalus, Decreased response to growth hormone stimulation test, Postnatal gr...	ORPHA:254516
Aceruloplasminemia	Gait ataxia, Akinesia, Limb ataxia, Ataxia, Abnormal thalamic MRI signal intensity	ORPHA:48818
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Infantile spasms, Seizure, Colpocephaly	OMIM:618731
Amoebiasis Due To Free-Living Amoebae	Seizure, Abnormal brainstem MRI signal intensity, Abnormal cerebrospinal fluid morphology, Abnorm...	ORPHA:68
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Seizure	OMIM:300886
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Seizure	OMIM:618302
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen...	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
Weaver Syndrome	Seizure, Lateral ventricle dilatation, Ventriculomegaly, Bilateral tonic-clonic seizure, Generali...	OMIM:277590
Aicardi-Goutieres Syndrome 9	Seizure, Lateral ventricle dilatation, Intrauterine growth retardation	OMIM:619487
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Nocturnal seizures, B...	OMIM:619725
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Agenesis of corpus callosum, Hydrocephalus, Seizure, Ventriculomegaly	OMIM:618577
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Focal impaired awareness seizure, Generalized non-motor (absence) seizure	OMIM:616521
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Seizure, Lateral ventricle dilatation	ORPHA:293725
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Seizure	ORPHA:83473
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Seizure	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Seizure	ORPHA:529808
Joubert Syndrome 8	Occipital encephalocele, Molar tooth sign on MRI, Ataxia	OMIM:612291
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum, Seizure, Lateral ventricle dilatation	OMIM:300952
47,Xyy Syndrome	Increased circulating gonadotropin level, Hydrocephalus, Seizure, Abnormal brainstem morphology	ORPHA:8
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Seizure, Ventriculomegaly	OMIM:602501
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Seizure, Agenesis of corpus callosum	ORPHA:380
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Noonan Syndrome 14	Short stature, Lateral ventricle dilatation	OMIM:619745
Acalvaria	Spina bifida, Holoprosencephaly, Hydrocephalus	ORPHA:945
Craniofacial Dyssynostosis With Short Stature	Seizure, Ventriculomegaly, Short stature, Hydrocephalus, Agenesis of corpus callosum	OMIM:218350
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Growth delay, Lateral ventricle dilatation, Hypocalcemic seizures	OMIM:612301
Coach Syndrome 1	Encephalocele, Seizure, Molar tooth sign on MRI, Ataxia, Growth delay, Occipital encephalocele	OMIM:216360
Bilateral Polymicrogyria	Cerebellar ataxia associated with quadrupedal gait, Generalized-onset seizure, Seizure, Ventricul...	ORPHA:268940
Intellectual Developmental Disorder, Autosomal Dominant 36	Gait ataxia, Seizure, Ventriculomegaly, Inability to walk, Hydrocephalus, Agenesis of corpus call...	OMIM:616362
Optic Pathway Glioma	Growth delay, Hydrocephalus, Seizure	ORPHA:2086
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Seizure, Agenesis of corpus callosum, Colpocephaly	OMIM:619955
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Seizure, Ventriculomegaly, Colpocephaly	OMIM:615219
Joubert Syndrome 38	Decreased response to growth hormone stimulation test, Molar tooth sign on MRI, Short stature, Sm...	OMIM:619476
Thanatophoric Dysplasia Type 2	Encephalocele, Seizure, Ventriculomegaly, Short stature, Hydrocephalus, Holoprosencephaly	ORPHA:93274
Prader-Willi Syndrome Due To Translocation	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Seizure, La...	ORPHA:177907
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Seizure, Ventriculomegaly, Focal-onset seizure, Generalized myoclonic seizure, Hydrocephalus, Gai...	ORPHA:395
Gabriele-De Vries Syndrome	Tip-toe gait, Intrauterine growth retardation, Lateral ventricle dilatation, Waddling gait	OMIM:617557
Familial Infantile Myoclonic Epilepsy	Limb myoclonus, Seizure, Focal-onset seizure, Generalized myoclonic seizure, Gait disturbance, Si...	ORPHA:352582
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Short stature	ORPHA:1516
Amelocerebrohypohidrotic Syndrome	Hydrocephalus, Seizure, Short stature	ORPHA:1946
Dandy-Walker Malformation With Postaxial Polydactyly	Truncal ataxia, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Peho Syndrome	Seizure, Ventriculomegaly, Hydrocephalus, Infantile spasms, Atrophy/Degeneration affecting the br...	ORPHA:2836
Halperin-Birk Syndrome	Generalized-onset seizure, Ventriculomegaly, Inability to walk, Focal-onset seizure, Semilobar ho...	OMIM:618651
Nasu-Hakola Disease	Hydrocephalus, Seizure, Ventriculomegaly	ORPHA:2770
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele	OMIM:182940
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele, Seizure, Intrauterine growth retardation	ORPHA:1914
Acrofacial Dysostosis 1, Nager Type	Hydrocephalus, Aqueductal stenosis, Short stature	OMIM:154400
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus, Seizure	OMIM:260500
Joubert Syndrome 1	Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ata...	OMIM:213300
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Inability to walk by childhood/adolescence, Steppage gait	ORPHA:99947
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Short stature, Hydrocephalus, Ataxia, Intrauterine growth retardation, Colpocep...	OMIM:619833
Charge Syndrome	Aqueductal stenosis, Short stature, Anterior hypopituitarism, Holoprosencephaly, Delayed puberty,...	ORPHA:138
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Short stature	ORPHA:2183
Thanatophoric Dysplasia	Seizure, Ventriculomegaly, Hydrocephalus, Disproportionate short-limb short stature, Intrauterine...	ORPHA:2655
Alkuraya-Kucinskas Syndrome	Kinked brainstem, Hypoplasia of the brainstem, Seizure, Ventriculomegaly, Hydrocephalus, Dandy-Wa...	OMIM:617822
Joubert Syndrome 37	Molar tooth sign on MRI, Short stature	OMIM:619185
Hydrocephalus, Normal-Pressure, 1	Gait disturbance, Normal pressure hydrocephalus	OMIM:236690
Craniotelencephalic Dysplasia	Arrhinencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Abnormal pons morphology, Generalized myoclonic seizure, Lateral ventricle dilatation	OMIM:300868
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum, Hydrocephalus, Seizure, Ventriculomegaly	OMIM:175700
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Seizure, Typical absence seizure, Lateral ...	OMIM:615873
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Krabbe Disease	Hydrocephalus, Seizure, Increased CSF protein concentration	OMIM:245200
Mosaic Trisomy 1	Agenesis of corpus callosum, Lateral ventricle dilatation	ORPHA:1692
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Hydrocephalus, P...	ORPHA:91348
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Hypoplasia of the brainstem, Ventriculomegaly, Severe sh...	ORPHA:444072
1Q44 Microdeletion Syndrome	Ventriculomegaly, Short stature, Hydrocephalus, Bilateral tonic-clonic seizure, Growth delay, Age...	ORPHA:238769
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Orofaciodigital Syndrome Type 6	Seizure, Molar tooth sign on MRI, Short stature, Gait disturbance, Ataxia, Growth delay, Hypothal...	ORPHA:2754
Holoprosencephaly-Caudal Dysgenesis Syndrome	Holoprosencephaly, Abnormality of the diencephalon	ORPHA:2165
Infantile Sialic Acid Storage Disease	Hydrocephalus, Seizure	OMIM:269920
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Gait disturbance	ORPHA:2181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hypoplasia of the brainstem, Encephalocele, Seizure, Ventriculomegaly, Hydrocephalus, Agenesis of...	OMIM:613150
Chiari Malformation Type Ii	Myelomeningocele, Spina bifida, Hydrocephalus, Ataxia, Cervical myelopathy, Agenesis of corpus ca...	OMIM:207950
Focal Facial Dermal Dysplasia Type Iv	Focal-onset seizure, Hydrocephalus	ORPHA:398189
Oxoglutaric Aciduria	Short stature, Hydrocephalus, Ataxia	ORPHA:31
Bickerstaff Brainstem Encephalitis	Abnormal thalamic MRI signal intensity, Increased CSF protein concentration, Ataxia, CSF pleocytosis	ORPHA:79138
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Seizure, Short stature, Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Int...	OMIM:620113
Heterotaxy, Visceral, 1, X-Linked	Hydrocephalus, Myelomeningocele, Aqueductal stenosis	OMIM:306955
Griscelli Syndrome	Encephalocele, Seizure, Short stature, Hydrocephalus, Ataxia	ORPHA:381
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:109120
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Seizure, Ventriculomegaly, Focal-onset seizure, Agenesis of corpus callosum, Hydrocephalus, Ataxi...	OMIM:618476
Kabuki Syndrome 1	Bilateral tonic-clonic seizure with focal onset, Seizure, Lateral ventricle dilatation, Short sta...	OMIM:147920
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Seizure, Lateral ventricle dilatation, Hydrocephalus, Status epilepticus, Disproportionate short ...	OMIM:210710
Keppen-Lubinsky Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Seizure, Lateral ventricle dilatation	OMIM:614098
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Gait disturbance, Disproportionate short-trunk short stature	OMIM:613330
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Seizure, Thalamic hemorrhage	ORPHA:464321
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Short stature, Intrauterine growth retarda...	OMIM:609053
Lafora Disease	Bilateral tonic-clonic seizure with focal onset, Erratic myoclonus, Seizure, Inability to walk, F...	ORPHA:501
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Seizure, Ventriculomegaly, Short stature, ...	ORPHA:1855
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Spinal dysraphism, Encephalocele, Short stature, Anencephaly, Hydrocephalus, Holopro...	ORPHA:1908
Metatropic Dysplasia	Severe short stature, Hydrocephalus	ORPHA:2635
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus, Seizure	ORPHA:171839
Edinburgh Malformation Syndrome	Hydrocephalus, Seizure	ORPHA:1895
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Hydrocephalus, Molar tooth sign on MRI	OMIM:616546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hypoplasia of the brainstem, Encephalocele, Seizure, Hydrocephalus, Holoprosencephaly, Agenesis o...	OMIM:253800
Joubert Syndrome 39	Occipital encephalocele, Molar tooth sign on MRI	OMIM:619562
Cerebellofaciodental Syndrome	Hypoplasia of the midbrain, Hypoplasia of the pons, Ventriculomegaly, Short stature	OMIM:616202
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Short stature	ORPHA:2701
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hypoplasia of the brainstem, Seizure, Ventriculomegaly, Anencephaly, Hydrocephalus, Communicating...	OMIM:615287
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Decreased response to growth hormone stimulation test, Intrauterine growth retarda...	OMIM:220210
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Hydrocephalus, Intrauterine growth retardation, Short stature	OMIM:300863
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventriculomegaly, Short stature	OMIM:615630
Congenital Disorder Of Glycosylation, Type Iil	Seizure, Ventriculomegaly, Hydrocephalus, Growth delay, Intrauterine growth retardation	OMIM:614576
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Seizure, Aqueductal stenosis, Lateral ventricle dilatation, Short ...	OMIM:619534
Arima Syndrome	Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Ataxia, Brainstem...	OMIM:243910
Mosaic Variegated Aneuploidy Syndrome 1	Seizure, Ventriculomegaly, Short stature, Generalized myoclonic seizure, Hydrocephalus, Agenesis ...	OMIM:257300
16P13.2 Microdeletion Syndrome	Dilated third ventricle, Seizure, Ventriculomegaly, Short stature, Hydrocephalus, Gait disturbance	ORPHA:500055
Temple Syndrome	Hydrocephalus, Intrauterine growth retardation, Short stature	OMIM:616222
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hypoplasia of the brainstem, Encephalocele, Ventriculomegaly, Hydrocephalus, Partial agenesis of ...	OMIM:614643
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Seizure, Ventriculomegaly	OMIM:219730
Acquired Aneurysmal Subarachnoid Hemorrhage	Seizure, Hyperglycorrhachia, Hydrocephalus, Hypopituitarism, Increased CSF lactate	ORPHA:90065
Orofaciodigital Syndrome Vi	Molar tooth sign on MRI, Short stature, Arrhinencephaly, Occipital meningocele, Hypothalamic hama...	OMIM:277170
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Seizure, Abnormal brainstem morphology, Ne...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Seizure, Abnormal brainstem morphology, Ne...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Seizure, Abnormal brainstem morphology, Ne...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Seizure, Abnormal brainstem morphology, Ne...	ORPHA:93924
Congenital Disorder Of Glycosylation, Type Iim	Epileptic spasm, Seizure, Lateral ventricle dilatation, Intrauterine growth retardation	OMIM:300896
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Kinked brainstem, Hypoplasia of the brainstem, Seizure, Ventriculomegaly, Agenesis of corpus call...	OMIM:236670
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Seizure, Ventriculomegaly	OMIM:603387
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Seizure, Short stature, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:459061
Multiple Sulfatase Deficiency	Ventriculomegaly, Short stature, Hydrocephalus, Ataxia, Increased CSF protein concentration	OMIM:272200
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus	OMIM:613776
Weiss-Kruszka Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly	OMIM:618619
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Seizure, Dandy-Walker malformation, Intrauterine growth retardation	OMIM:612938
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Infantile spasms, Focal impaired awareness seizure, Interhypothalamic Adhesion, Agenesis of corpu...	OMIM:618929
Bresek Syndrome	Growth delay, Hydrocephalus, Intrauterine growth retardation	ORPHA:85284
Joubert Syndrome	Encephalocele, Seizure, Hydrocephalus, Gait disturbance, Ataxia	ORPHA:475
Peroxisome Biogenesis Disorder 12A (Zellweger)	Growth delay, Hydrocephalus, Seizure, Short stature	OMIM:614886
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hydrocephalus, Intrauterine growth retardation, Short stature	ORPHA:163966
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Short stature, Lateral ventricle dilatation	OMIM:619869
Thanatophoric Dysplasia Type 1	Lethal short-limbed short stature, Hydrocephalus, Seizure, Ventriculomegaly	ORPHA:1860
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized-onset seizure, Ventriculomegaly, Lateral ventricle dilatation, Progressive ventriculo...	ORPHA:500150
Achondroplasia	Rhizomelia, Hydrocephalus, Brain stem compression, Neonatal short-limb short stature	OMIM:100800
Scalp-Ear-Nipple Syndrome	Short stature, Lateral ventricle dilatation	OMIM:181270
Congenital Sialidosis Type 2	Seizure, Myoclonus, Hydrocephalus, Ataxia, Dysmetria	ORPHA:93400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation	OMIM:263520
Tenorio Syndrome	Hydrocephalus, Gait disturbance, Seizure, Ventriculomegaly	OMIM:616260
Choreoacanthocytosis	Seizure, Lateral ventricle dilatation, Falls, Bilateral tonic-clonic seizure, Loss of ambulation,...	ORPHA:2388
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Hydrocephalus, Seizure, Ventriculomegaly	ORPHA:1647
Chromosome 1P36 Deletion Syndrome, Distal	Seizure, Lateral ventricle dilatation, Hydrocephalus, Infantile spasms, Growth delay, Epileptic s...	OMIM:607872
Emanuel Syndrome	Seizure, Ventriculomegaly, Hydrocephalus, Intrauterine growth retardation, Dandy-Walker malformation	OMIM:609029
Fg Syndrome Type 1	Seizure, Ventriculomegaly, Short stature, Hydrocephalus, Small pituitary gland, Broad-based gait	ORPHA:93932
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Increased circulating prolactin concentration, Anterior hypopituitarism...	ORPHA:91350
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Desmosterolosis	Seizure, Ventriculomegaly, Hydrocephalus, Status epilepticus, Severe short stature, Growth delay,...	ORPHA:35107
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ventriculomegaly, Short stature, Agenesis ...	OMIM:617260
Emanuel Syndrome	Seizure, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Growth delay, Intrauterine g...	ORPHA:96170
Gracile Bone Dysplasia	Hydrocephalus, Seizure, Short stature	OMIM:602361
3C Syndrome	Ventriculomegaly, Short stature, Hydrocephalus, Dandy-Walker malformation, Postnatal growth retar...	ORPHA:7
Lhermitte-Duclos Disease	Hydrocephalus, Seizure, Ataxia	ORPHA:65285
Cole-Carpenter Syndrome 2	Short stature, Hydrocephalus, Postnatal growth retardation	OMIM:616294
Pelvis-Shoulder Dysplasia	Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Hydrocephalus, Hydranencephaly...	ORPHA:2839
Albers-Schönberg Osteopetrosis	Hydrocephalus, Short stature	ORPHA:53
Joubert Syndrome 5	Occipital encephalocele, Molar tooth sign on MRI, Ataxia, Thickened superior cerebellar peduncle	OMIM:610188
Full Nf2-Related Schwannomatosis	Seizure, Hydrocephalus, Brain stem compression, Myelopathy, Unsteady gait	ORPHA:637
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Seizure, Ventriculomegaly, Hydrocephalus, Olivopontocerebellar hypoplasia, Agenesis of corpus cal...	ORPHA:457284
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Seizure, Hydrocephalus, Disproportionate short stature, Severe short stature, Focal i...	OMIM:616482
Triploidy	Meningocele, Holoprosencephaly, Hydrocephalus, Intrauterine growth retardation	ORPHA:3376
Large Congenital Melanocytic Nevus	Hydrocephalus, Seizure	ORPHA:626
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure with focal onset, Focal sensory seizure with visual features, Myoc...	OMIM:254780
Tetrasomy 5P	Hydrocephalus, Seizure, Postnatal growth retardation	ORPHA:3309
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased response to gro...	ORPHA:293987
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Holoprosencephaly, Hydrocephalus, Growth delay, Agenesis of corpus callosum	ORPHA:77298
Lowry-Maclean Syndrome	Growth delay, Hydrocephalus, Seizure, Intrauterine growth retardation	ORPHA:2409
Multiple Sulfatase Deficiency	Hydrocephalus, Seizure, Short stature	ORPHA:585
16Q24.3 Microdeletion Syndrome	Seizure, Ventriculomegaly, Colpocephaly	ORPHA:261250
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Cole-Carpenter Syndrome 1	Short stature, Hydrocephalus, Communicating hydrocephalus	OMIM:112240
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Chromosome 6Pter-P24 Deletion Syndrome	Agenesis of corpus callosum, Hydrocephalus, Seizure, Dandy-Walker malformation	OMIM:612582
Walker-Warburg Syndrome	Seizure, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum	ORPHA:899
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Crouzon Syndrome

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