Gene Summary

Name:
T cell acute lymphocytic leukemia 2
Synonyms:
bHLHa19

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Tal2em1(IMPC)H HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tal2 mutations

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

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
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