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
increased circulating calcium level Tal2em1(IMPC)H HET   Early adult 9.17×10-05

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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.

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
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Thick cerebral cortex, Cortical dysplasia, Bi... ORPHA:101071
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Ventriculomegaly, Hypoplasia of the brainstem, Simplified gyral pattern, Cortical dysplasia, Hypo... OMIM:615763
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Generalized-onset seizure... ORPHA:77299
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Focal-onset seizure, Hypoplasia of the brainstem, Microcephaly, Simplified gyral pattern, Decreas... OMIM:619072
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainste... ORPHA:250972
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Autosomal Dominant Non-Syndromic Intellectual Disability
Abnormal hippocampus morphology, Typical absence seizure, Microcephaly, Epileptic spasm, Dilation... ORPHA:178469
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Progressive microcephaly, Ataxia, Ventriculomegaly,... OMIM:617862
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Holoprosencephaly, Hydrocephalus, Absent septum pellucidum, Aqueduct... ORPHA:2182
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Ventriculomegaly, Hypoplasia of the brainstem, Microcephaly, Lissencephaly, Bil... OMIM:618730
Phosphoserine Phosphatase Deficiency
Cerebral atrophy, Intrauterine growth retardation, Microcephaly, Postnatal growth retardation, Se... OMIM:614023
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Abnormal hippocampus morphology, Hyp... ORPHA:208447
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Increased CSF protein, Abnormal putamen morphology, Abnormal brainstem morphology... ORPHA:88619
Hydrocephalus, Congenital, 1
Seizure, Ventriculomegaly, Hydrocephalus OMIM:236600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Spastic gait, Progressive microcephaly, Inability to walk, Ventriculomegaly, Hypoplasia of the br... OMIM:616486
L1 Syndrome
Hydrocephalus, Aqueductal stenosis, Seizure, Gait disturbance ORPHA:275543
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalencephaly, Hydrocephalus, Polymicro... OMIM:615937
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Ataxia, Microcephaly, Cortical dysplasia, ... OMIM:618709
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Inability to walk, Abnormality of the basal ganglia, Hypoplasia of the... OMIM:618646
Alexander Disease
Seizure, Ataxia, Increased CSF protein, Hydrocephalus OMIM:203450
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical hemiatrophy, Cerebral cortical atrophy, Hydrocephalus, Subcortical cerebral atr... ORPHA:2703
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Gait disturbance, Cerebral... OMIM:618193
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Atrophy/Degeneration affecting the brainstem, Tonic seizure, Focal hemiclonic s... OMIM:619606
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Dysgyria, Hypoplasia of the brainstem, Hydrocephalus, Type II lissenceph... ORPHA:352682
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus OMIM:307000
Cach Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Dysmetria, Cerebral atrop... ORPHA:135
Coasy Protein-Associated Neurodegeneration
Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal globus... ORPHA:397725
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Ataxia, Ventriculomegaly, Hypoplasia of the brainstem, Micro... OMIM:611603
New-Onset Refractory Status Epilepticus
Increased CSF protein, Focal aware motor seizure, Bilateral tonic-clonic seizure with focal onset... ORPHA:363558
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Bradykinesia, Limb ataxia, Basal ganglia calcification, Seizure OMIM:618824
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Intrauterine growth retardation, Basal ganglia cysts, Agenesis of corpus callos... ORPHA:79243
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Joubert Syndrome 31
Truncal ataxia, Molar tooth sign on MRI, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:617761
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Bradykinesia, Scissor gait, Diffuse cerebral atrophy, Dilation of latera... ORPHA:363654
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Hydranencephaly, Akinesia, Ventricu... OMIM:225790
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Tonic seizure, Microcephaly, Hypoplasia of the corpus callosum, Focal motor seizure, Dilation of ... OMIM:618890
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Focal-onset seizure, Hypoplasia of the brainstem, Partial agenesis o... OMIM:619302
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Ataxia, Ventriculomegaly, Unsteady gait, Hypoplasia of the brainstem, Short st... OMIM:618273
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Seizure, Polymicrogyria OMIM:300982
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Microcephaly, Dandy-Walker malformation, Spina bifida occulta, Hypop... OMIM:618736
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Seizure, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Lissencephaly, Type II lissencephaly, Small basal ganglia, Dilation ... ORPHA:300570
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callo... OMIM:604213
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Porencephalic cyst, Subcortical band heterotopia, Hypopla... OMIM:615191
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Aqueductal stenosis, Seizure, Agenesis of corpus callosum ORPHA:1496
Neuroferritinopathy
Abnormal caudate nucleus morphology, Iron accumulation in globus pallidus, Abnormality of the bas... ORPHA:157846
Pontocerebellar Hypoplasia, Type 13
Hypoplastic hippocampus, Inability to walk, Gait ataxia, Microcephaly, Dandy-Walker malformation,... OMIM:618606
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Intrauterine growth retardation, Severe short stature, Growth delay, Focal T2 h... OMIM:619057
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Tonic seizure, Reduced amygdala volume, Hypoplastic hippocampus, Focal-onset seizure, Microcephal... OMIM:619517
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Seizure, Ataxia, Hydrocephalus ORPHA:99966
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Intrauterine growth retardation, ... ORPHA:356961
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Abnormal brainstem morphology, Generalized myoclonic se... ORPHA:2382
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Atonic seizure, Generalized myoclonic seizure, Ventriculomegaly, Typical... ORPHA:101070
Combined Oxidative Phosphorylation Defect Type 39
Atrophy/Degeneration affecting the brainstem, Abnormal corpus callosum morphology, Cerebral atrop... ORPHA:565624
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Alg2-Cdg
Hyperintensity of cerebral white matter on MRI, Microcephaly, Abnormal basal ganglia MRI signal i... ORPHA:79326
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Hydrocephalus, Polym... OMIM:600348
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Agenesis of corpus callosum, Ataxia, Ventriculomegaly, Seizure, Partial agenesi... ORPHA:1136
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy, Bradykinesia, Difficulty walking ORPHA:306669
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Abnormal brainstem morphology, Agenesis of corpus callosum, Dilated fourth... ORPHA:370959
Malan Overgrowth Syndrome
Ventriculomegaly, Seizure, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Dilati... ORPHA:420179
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Abnorma... ORPHA:280195
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Papilloma Of Choroid Plexus
Seizure, Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Growth delay, Abnormal lateral ventricle morphology, Gait ataxia... ORPHA:488635
Dravet Syndrome
Cerebral atrophy, Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced s... OMIM:607208
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Hypoplasia of ... OMIM:613154
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Aqueductal stenosis, Ventriculomegaly OMIM:600907
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Short stature, Hypoplasia... ORPHA:166024
Joubert Syndrome 36
Molar tooth sign on MRI, Seizure OMIM:618763
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Focal-onset seizure, Hypoplasia of the brainstem, Simplified gyral p... OMIM:619301
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Pineocytoma
Hydrocephalus, Episodic ataxia, Increased CSF protein, Difficulty walking ORPHA:251912
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Primary microcephaly, Simplified gyral pattern, Lissencephaly, H... ORPHA:284417
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Dysmetria, Intrauterine growth retardation, Dilated fourth ventricle, Athetosis... ORPHA:572798
Gómez-López-Hernández Syndrome
Short stature, Ataxia, Abnormal brainstem morphology, Hydrocephalus ORPHA:1532
Leigh Syndrome With Cardiomyopathy
Abnormal caudate nucleus morphology, Basal ganglia gliosis, Abnormal brainstem morphology, Abnorm... ORPHA:70474
Martsolf Syndrome 2
Microcephaly, Short stature, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:619420
Autosomal Recessive Spastic Paraplegia Type 11
Hypoplasia of the corpus callosum, Abnormal substantia nigra morphology, Hyperintensity of cerebr... ORPHA:2822
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Ataxia, Lissencephaly, Pachygyria, Postnatal growth retardat... OMIM:300067
Yoon-Bellen Neurodevelopmental Syndrome
Cerebral atrophy, Inability to walk, Ataxia, Ventriculomegaly, Microcephaly, Generalized myocloni... OMIM:619701
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dilati... OMIM:617751
Rare Non-Syndromic Intellectual Disability
Cerebral atrophy, Hypoplastic hippocampus, Seizure, Microcephaly, Dysgenesis of the basal ganglia... ORPHA:101685
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Lethargy, Microcephaly, Gait disturbance, Seizure ORPHA:26
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Multifocal cerebral white matter a... ORPHA:488627
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance OMIM:611808
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Microcephaly, Short stature, Cortical dysplasia, Postnatal growth retardation, Bilateral tonic-cl... OMIM:608278
Joubert Syndrome 27
Molar tooth sign on MRI, Ataxia OMIM:617120
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity, Seizure, Abnorma... ORPHA:444013
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Hydranencephaly
Atrophic pituitary gland, Intrauterine growth retardation, Dysgenesis of the thalamus, Hypoplasti... ORPHA:2177
Japanese Encephalitis
Abnormal pons morphology, Cerebral edema, Abnormal caudate nucleus morphology, Abnormal substanti... ORPHA:79139
Combined Oxidative Phosphorylation Defect Type 7
Inability to walk, Ataxia, Impaired tandem gait, Abnormal brainstem MRI signal intensity, Hypopla... ORPHA:254930
Achondroplasia
Neonatal short-limb short stature, Rhizomelia, Brain stem compression, Megalencephaly, Hydrocephalus OMIM:100800
Acute Disseminated Encephalomyelitis
Cerebral edema, Abnormality of the basal ganglia, Increased CSF protein, Hypointensity of cerebra... ORPHA:83597
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Cog5-Cdg
Atrophy/Degeneration affecting the brainstem, Intrauterine growth retardation, Cerebral white mat... ORPHA:263487
Brain Small Vessel Disease 2
Schizencephaly, Porencephalic cyst, Growth delay, Ventriculomegaly, Focal-onset seizure, Bilatera... OMIM:614483
Dandy-Walker Syndrome
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydroceph... OMIM:220200
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Lissencephaly,... ORPHA:2185
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Status epilepticus ORPHA:22
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Dilated fourth ventricle, Microcephaly, Dandy-Walker malform... ORPHA:3078
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Joubert Syndrome 30
Dandy-Walker malformation, Molar tooth sign on MRI, Seizure, Ventriculomegaly OMIM:617622
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Cerebral calcification, Aqueductal stenosis, Intrauterine growth retardation ORPHA:3035
Galloway-Mowat Syndrome
Intrauterine growth retardation, Microcephaly, Short stature, Pachygyria, Aqueductal stenosis, Se... ORPHA:2065
Joubert Syndrome 25
Molar tooth sign on MRI, Ataxia OMIM:616781
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia OMIM:617767
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Agyria, Abnormal caudate nucleus morphology, Generalized-onset seizure, Cerebral white matter atr... ORPHA:2148
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Hypoplasia of the corpus callosum, Dilated fourth ventricle... OMIM:619306
Masa Syndrome
Agenesis of corpus callosum, Shuffling gait, Ventriculomegaly, Microcephaly, Short stature, Hydro... OMIM:303350
D-2-Hydroxyglutaric Aciduria 1
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cyst... OMIM:600721
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Ventriculomegaly, Microcephaly, Dandy-Walker malformation, Hydrocephalus,... OMIM:617281
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Primary mic... OMIM:245570
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Abnormal brainstem morphology, Ataxia, Short stature, Hydrocepha... ORPHA:2720
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular white matter hyperintensities, Hydrocepha... OMIM:619470
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Gait ataxia, Gen... OMIM:618587
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Developmental And Epileptic Encephalopathy 98
Cerebral atrophy, Thin corpus callosum, Perisylvian polymicrogyria, Bilateral tonic-clonic seizur... OMIM:619605
Central Neurocytoma
Cerebral calcification, Ataxia, Abnormal lateral ventricle morphology, Lethargy, Hydrocephalus ORPHA:73256
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Abnormality of thalamus morphology OMIM:613724
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Seizure, Hydrocephalus OMIM:300884
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles, Seizure, Growth delay ORPHA:85290
Fanconi Anemia, Complementation Group R
Microcephaly, Growth delay, Hydrocephalus OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Type II lissencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Lissencephaly, Dand... OMIM:613153
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Bilateral tonic-clonic seizure, Dilation of lateral ventricles OMIM:619278
Generalized Epilepsy With Febrile Seizures-Plus
Atonic seizure, Generalized cerebral atrophy/hypoplasia, Generalized-onset seizure, Bradykinesia,... ORPHA:36387
Joubert Syndrome 9
Molar tooth sign on MRI, Seizure, Ventriculomegaly, Encephalocele OMIM:612285
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI, Ataxia OMIM:617562
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Inability to walk, T2 hypointen... ORPHA:1947
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Myoclonic spasms, Loss of ability to walk, Focal T2 hyperintense thalamic lesio... ORPHA:79264
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Seizure OMIM:614175
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Seizure, Hypoplasia of the corpus callosum, Dilation of la... OMIM:610015
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Alg13-Cdg
Infantile spasms, Abnormal lateral ventricle morphology ORPHA:324422
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Seizure OMIM:614870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Anencephaly, Ventriculomegaly, Hypoplasia o... OMIM:615287
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Agenesis of corpus callosum, Dilated third ventricle, Leukoencephalopathy, Micr... OMIM:619244
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Intrauterine growth retardation, Arrhinencephaly ORPHA:1788
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Aqueductal stenosis, Ventriculomegaly OMIM:600906
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Occipital en... ORPHA:397715
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal cortical dysplasia, Focal aware seizure, Hemimegalencephaly, Focal-onset seiz... ORPHA:98820
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased CSF lactate, Ataxia, Status epilepticus, Focal T2 hyperintense thalamic lesion OMIM:619046
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Joubert Syndrome 7
Abnormal corpus callosum morphology, Molar tooth sign on MRI, Ataxia, Hypoplasia of the brainstem... OMIM:611560
Benign Familial Infantile Epilepsy
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... ORPHA:306
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Pettigrew Syndrome
Cerebral calcification, Abnormality of the basal ganglia, Ventriculomegaly, Gait ataxia, Dandy-Wa... OMIM:304340
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Diffuse cerebral ... ORPHA:330050
Episodic Ataxia, Type 9
Tonic seizure, Seizure, Bilateral tonic-clonic seizure, Clonic seizure, Episodic ataxia, Status e... OMIM:618924
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Hypoplasia of the corpus callosum, Bradykinesia, Seizure, Gait disturbance, Imp... OMIM:300423
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Ataxia, Gait ataxia, Generalized non-motor (absence) seizure, Foca... OMIM:617831
Meckel Syndrome, Type 4
Hydrocephalus, Intrauterine growth retardation, Molar tooth sign on MRI, Anencephaly, Microcephal... OMIM:611134
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation, Abnormal cerebral cor... ORPHA:163961
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Short stature, Inability to walk OMIM:619639
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, S... ORPHA:1931
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia, Ataxia, Microcephaly, Decreased thalamic volume, ... ORPHA:168577
Kohlschutter-Tonz Syndrome-Like
Nocturnal seizures, Intrauterine growth retardation, Inability to walk, Ataxia, Ventriculomegaly,... OMIM:619229
Joubert Syndrome 10
Molar tooth sign on MRI, Growth delay OMIM:300804
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Cerebral atrophy, Chin myoclonus, Aplasia/Hypoplasia of the cor... ORPHA:263516
Pseudo-Torch Syndrome 2
Cerebral calcification, Ventriculomegaly, Lethargy, Microcephaly, Polymicrogyria, Dilation of lat... OMIM:617397
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Cerebral white matter atrophy, Ataxia, Abnormality of thalamus mor... ORPHA:435638
Leigh Syndrome
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Agenesis of corpus callosum, ... ORPHA:506
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Joubert Syndrome 4
Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Ataxia, Elongated superior cereb... OMIM:609583
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Short stature, Abnormality of thalamus morphology, Focal white matter... ORPHA:557003
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Hypoplasti... OMIM:619317
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Ventriculomegaly, Unsteady gait, Gait ataxia, Bilateral tonic-clonic seizure, Falls OMIM:203740
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Seizure, Hydrocephalus ORPHA:1008
Hsd10 Disease
Ataxia, Ventriculomegaly, Microcephaly, Gait disturbance, Postnatal growth retardation, Frontotem... ORPHA:391417
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... OMIM:615400
Coach Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Paganini-Miozzo Syndrome
Dilation of lateral ventricles, Febrile seizure (within the age range of 3 months to 6 years) OMIM:301025
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, Polymicrogyria, Pachygyria OMIM:614115
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Ventriculomegaly, Focal-onset seizure, Focal myoclonic... ORPHA:3006
Joubert Syndrome 16
Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele OMIM:614465
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Short stature, Increased CSF alanine concentration, Increased CSF lactate, Bilateral toni... OMIM:619065
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilation of lateral ventricles, Seizure, Agenesis of corpus callosum OMIM:300952
Joubert Syndrome 22
Molar tooth sign on MRI, Intrauterine growth retardation, Temporal cortical atrophy, Hypoplasia o... OMIM:615665
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Adult Krabbe Disease
Abnormal pons morphology, Abnormal corpus callosum morphology, Increased CSF protein, Abnormal mi... ORPHA:206448
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Focal-onset seizure, Infantile spasms, Microcephaly, Generalized non-motor (ab... OMIM:619616
Joubert Syndrome 18
Molar tooth sign on MRI, Intrauterine growth retardation OMIM:614815
Aicardi-Goutieres Syndrome 4
Cerebral calcification, Cerebral atrophy, Progressive microcephaly, Intrauterine growth retardati... OMIM:610333
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Hypophosphatasia
Hypercalcemia ORPHA:436
Joubert Syndrome 32
Molar tooth sign on MRI, Ataxia, Polymicrogyria OMIM:617757
Lissencephaly 10
Agyria, Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-o... OMIM:618873
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpu... ORPHA:2570
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Spastic gait, Dilated third ventricle, Partial agenesis of the corpus callosum,... OMIM:617296
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Molar tooth sign on MRI, Ventriculomegaly, Hypoplasia of the corpus callos... OMIM:619479
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Seizure, Hydrocephalus OMIM:304100
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Focal-onset seizure, Microcephaly, Bilateral tonic-clonic seizure, Generalized... OMIM:619157
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Ventriculomegaly, Ataxia, Hydrocephalus ORPHA:59315
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Foxg1 Syndrome
Abnormal corpus callosum morphology, Severe postnatal growth retardation, Progressive microcephal... ORPHA:561854
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Clcn4-Related X-Linked Intellectual Disability Syndrome
Ventriculomegaly, Unsteady gait, Progressive cerebellar ataxia, Microcephaly, Cerebral cortical a... ORPHA:485350
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Hypointensity of cerebral white matter on MRI, Seizure precipitated by f... ORPHA:363549
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Fried Syndrome
Cerebral calcification, Hydrocephalus, Gait disturbance ORPHA:85335
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Generalized myoclonic seizure, Cerebral white matter atrophy, Ataxia, Seizure, ... ORPHA:464282
Joubert Syndrome 15
Molar tooth sign on MRI, Ataxia OMIM:614464
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Seizure, Hydrocephalus ORPHA:93259
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Enlarged fossa interpeduncularis, Molar tooth sign on MRI... OMIM:610688
Methylcobalamin Deficiency Type Cble
Intrauterine growth retardation, Ventriculomegaly, Lethargy, Hypoplasia of the brainstem, Microce... ORPHA:2169
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Hypomagnesemia, Seizures, And Mental Retardation 1
Hypomagnesemia OMIM:616418
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bradykinesia, Ataxia, Short stature, Bi... OMIM:617836
Joubert Syndrome 28
Molar tooth sign on MRI, Ataxia OMIM:617121
Distal Monosomy 10Q
Cavum septum pellucidum, Ataxia, Unsteady gait, Microcephaly, Short stature, Spina bifida occulta... ORPHA:96148
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Epileptic spasm, Growth delay, Abnormal basal ganglia MRI signal intensity, Secondary microcephal... ORPHA:485421
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Alexander Disease
Cerebral calcification, Hydrocephalus, Agenesis of corpus callosum, Ataxia, Megalencephaly, Gait ... ORPHA:58
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Seizure, Febrile seizure (within the age range of 3 months to... ORPHA:404440
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus OMIM:615127
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Episodic Ataxia, Type 5
Atypical absence seizure, Ataxia, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:613855
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Spastic gait, Difficulty walking, Hypoplasia of the corpus callosum ORPHA:401815
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Agenesis of corpus callosum, Intrauterine growth retardation, Growth delay, Hydro... OMIM:612863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Hypoplasia of the pons, Leukoencephalopathy OMIM:615181
Severe Canavan Disease
Inability to walk, Cerebral white matter atrophy, Lethargy, Megalencephaly, Bilateral tonic-cloni... ORPHA:314911
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Cavum septum pellucidum, Ataxia, Unsteady gait, Dilation of ... ORPHA:457279
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Microcephaly, Cortical dysplasia, Focal impaired awareness seizure, Bilateral tonic-clonic seizur... ORPHA:208441
Pfeiffer Syndrome Type 1
Aqueductal stenosis ORPHA:93258
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Molar tooth sign on MRI, Ataxia, Elongated superior cerebellar ... OMIM:608629
Papilloma Of Choroid Plexus
Seizure, Choroid plexus papilloma, Hydrocephalus OMIM:260500
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Difficulty walking, Focal-onset seizure, Myoclonus OMIM:613608
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Ventri... ORPHA:272
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Bilateral tonic-clonic seizure, Difficulty walking, Myoclonus OMIM:619191
Meningioma
Focal T2 hypointense thalamic lesion, Hemifacial spasm, Ataxia, Increased circulating prolactin c... ORPHA:2495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Progressive microcephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem, Micro... OMIM:615249
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure, Pachygyria OMIM:600176
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypoplasia of the corpus callosum, Focal-onset seizure, Primary microcephaly, Febrile seizure (wi... ORPHA:289266
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Tonic seizure, Progressive microcephaly, Inability to walk, Focal-onset seizure... OMIM:618917
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Tonic seizure, Agenesis of corpus callosum, Microcephaly, Partial agenesis of the ... OMIM:619512
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Polymicrogyria, Atypical absence seizure OMIM:300388
Joubert Syndrome With Renal Defect
Hydrocephalus, Agenesis of corpus callosum, Molar tooth sign on MRI, Ataxia, Gait disturbance, Po... ORPHA:220497
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Landau-Kleffner Syndrome
Atypical absence seizure, Focal myoclonic seizure, Steppage gait, Gait ataxia, Non-convulsive sta... ORPHA:98818
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Familial Infantile Myoclonic Epilepsy
Abnormal hippocampus morphology, Generalized myoclonic seizure, Focal-onset seizure, Ataxia, Thic... ORPHA:352582
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Dilation of later... ORPHA:293725
Orofaciodigital Syndrome Xvi
Ventriculomegaly, Molar tooth sign on MRI, Inability to walk, Ataxia OMIM:617563
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Generalized myoclonic seizure,... ORPHA:101039
Tay-Sachs Disease
Dysmetria, Hypointensity of cerebral white matter on MRI, Inability to walk, Ventriculomegaly, Ty... ORPHA:845
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcephaly, Short stature, Abnormality of thalamus morphology, Delayed puberty, Broad-based gait ORPHA:2959
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Hyperintensity of cerebral white matter on MRI... ORPHA:544488
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Periventricular leukomalacia, Seizure, Hydrocephalus OMIM:618302
Aicardi Syndrome
Epileptic spasm, Choroid plexus cyst, Cavum septum pellucidum, Dilated third ventricle, Microceph... OMIM:304050
Congenital Toxoplasmosis
Cerebral calcification, Intrauterine growth retardation, Ventriculomegaly, Microcephaly, Hydrocep... ORPHA:858
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Intellectual Developmental Disorder, Autosomal Dominant 39
Cerebral atrophy, Thin corpus callosum, Hydrocephalus, Focal impaired awareness seizure, Generali... OMIM:616521
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure, Secondary microcephaly OMIM:309530
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Short stature, Hydrocephalus, Bilateral tonic-clonic seizure, Generalized non-motor... OMIM:300558
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Cerebral atrophy, Intrauterine growth retardation, Diffuse leukoencephalo... OMIM:619487
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Seizure, Abnormal thalamic MRI signal intensity, Myoclonus ORPHA:70595
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Coach Syndrome 3
Molar tooth sign on MRI, Ataxia OMIM:619113
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Agenesis of corpus callosum, Cavum septum pellucidum, Dilated third ventricle, ... ORPHA:464738
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Vacterl With Hydrocephalus
Intrauterine growth retardation, Spina bifida, Hydrocephalus, Aqueductal stenosis, Arrhinencephaly ORPHA:3412
Glutaric Acidemia I
Dilation of lateral ventricles, Seizure OMIM:231670
Central Precocious Puberty
Proportionate short stature, Hypothalamic hamartoma, Increased circulating gonadotropin level, Hy... ORPHA:759
Febrile Seizures, Familial, 11
Hippocampal atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile se... OMIM:614418
Bilateral Polymicrogyria
Cerebellar ataxia associated with quadrupedal gait, Generalized-onset seizure, Perisylvian polymi... ORPHA:268940
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal hypothalamus morphology, Cerebral edema, Abnormality of the ba... ORPHA:68
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Seizure ORPHA:93260
Holoprosencephaly 7
Semilobar holoprosencephaly, Fusion of the left and right thalami, Agenesis of corpus callosum, P... OMIM:610828
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Seizure OMIM:602501
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Ataxia, Hydrocephalus, Seizur... ORPHA:2318
1Q21.1 Microduplication Syndrome
Seizure, Hydrocephalus ORPHA:250994
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Seizure, Megalencephaly, Hydrocephalus ORPHA:83473
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Ataxia, Elevated CSF 4-hydroxybutyric acid concentration, Bilatera... OMIM:271980
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopituitarism, Increased circulat... ORPHA:95512
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Seizure, Ventriculomegaly OMIM:618667
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Bradykinesia, Ataxia, Microcephaly, Abnormal periventricular white matte... OMIM:619725
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:618914
Papillary Tumor Of The Pineal Region
Hydrocephalus, Episodic ataxia, Increased CSF protein, Difficulty walking ORPHA:251915
Orofaciodigital Syndrome Vi
Short stature, Hypothalamic hamartoma, Molar tooth sign on MRI OMIM:277170
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lewy bodies, Dilation of lateral ventricles, Cerebral cortical atrophy, Neurofibrillary tangles OMIM:607485
Joubert Syndrome With Ocular Defect
Hydrocephalus, Agenesis of corpus callosum, Molar tooth sign on MRI, Ataxia, Gait disturbance, Po... ORPHA:220493
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Bainbridge-Ropers Syndrome
Intrauterine growth retardation, Inability to walk, Growth delay, Microcephaly, Hypoplasia of the... OMIM:615485
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Delayed puberty, Short stature, Pituitary hypothyroidism, Decre... OMIM:614963
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Microcephaly, Polymicrogyria, Seizure, Infantile spasms OMIM:618731
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Ventriculomegaly, Simplified gyral pattern, Lissenceph... OMIM:615219
Joubert Syndrome 2
Abnormal corpus callosum morphology, Thickened superior cerebellar peduncle, Enlarged fossa inter... OMIM:608091
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Secondary micro... OMIM:615599
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Cerebral calcification, Neoplasm of... ORPHA:54595
Kleeblattschaedel
Hydrocephalus OMIM:148800
Neurofibromatosis, Type I
Short stature, Spina bifida, Hydrocephalus, Aqueductal stenosis, Seizure OMIM:162200
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Abnormal midbrain morphology, Micr... ORPHA:314621
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Short stature, Hydrocephalus, Dilation of lateral ventricles, Seizure OMIM:619575
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Frontal encephalocele, Microcephaly, Lissence... ORPHA:1528
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Acrofacial Dysostosis 1, Nager Type
Microcephaly, Short stature, Polymicrogyria, Hydrocephalus, Aqueductal stenosis OMIM:154400
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Dysmetria, Atonic seizure, Inability to walk, Gait ataxia, Bilateral tonic-clo... OMIM:617810
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Generalized myoclonic seizure, Ataxia, Ventriculomegaly, Lethargy, Microcephaly, F... ORPHA:395
Aceruloplasminemia
Ataxia, Akinesia, Gait ataxia, Abnormal thalamic MRI signal intensity, Limb ataxia, Abnormal corp... ORPHA:48818
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Atrophy/Degeneration affecting the brainstem, Inability to walk, Growth delay, Ataxia, Ventriculo... OMIM:617193
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Nasu-Hakola Disease
Cerebral calcification, Ventriculomegaly, Cerebral cortical atrophy, Hydrocephalus, Seizure ORPHA:2770
Biemond Syndrome Type 2
Short stature, Delayed puberty, Hydrocephalus ORPHA:141333
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Peho Syndrome
Atrophy/Degeneration affecting the brainstem, Porencephalic cyst, Ventriculomegaly, Microcephaly,... ORPHA:2836
Alpers-Huttenlocher Syndrome
Ataxia, Focal-onset seizure, Microcephaly, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Intellectual Developmental Disorder, Autosomal Dominant 35
Intrauterine growth retardation, Ventriculomegaly, Gait ataxia, Hydrocephalus, Seizure, Multifoca... OMIM:616355
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Joubert Syndrome 35
Molar tooth sign on MRI, Ataxia, Elongated superior cerebellar peduncle OMIM:618161
Melanosis, Neurocutaneous
Dandy-Walker malformation, Seizure, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Infantile Cerebellar-Retinal Degeneration
Progressive microcephaly, Athetosis, Ataxia, Focal-onset seizure, Microcephaly, Cerebral cortical... OMIM:614559
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Short stature, ... OMIM:218350
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cerebral white matter atrophy, Microcephaly, Truncal ataxia, Bilateral tonic-clonic seizure, Wadd... ORPHA:369840
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly, Gait disturbance, Short stature, Hypoplasia of the corpus callos... OMIM:609757
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Pachygyria, Seizure ORPHA:329329
Osteopetrosis, Autosomal Recessive 7
Dilation of lateral ventricles, Hypocalcemic seizures, Growth delay, Hydrocephalus OMIM:612301
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Hydrocephalus, ... OMIM:618577
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Ventriculomegaly, Ataxia, Abnormal periventricular white matter morp... OMIM:618476
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Cerebral atrophy, Atonic seizure, Inability to walk, Generalized myoclonic se... ORPHA:168491
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Seizure ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Seizure ORPHA:529808
Noonan Syndrome 14
Short stature, Dilation of lateral ventricles OMIM:619745
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature, Seizure, Ataxia ORPHA:1861
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebral atrophy, Dysmetria, Ataxia, Microcephaly, Bilateral tonic-clonic seizure, Generalized no... OMIM:618170
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypoplasia of the corpus callosum, Microcephaly, Secondary microcephaly, Bilateral tonic-clonic s... OMIM:616281
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Agenesis of corpus callosum, Inability to walk, Ventriculomegaly, Gait ataxia, Mic... OMIM:616362
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Short stature, Hypoplasia of the corpus callosum ORPHA:1516
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Seizure, Hydrocephalus OMIM:300886
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure with focal onset, Growth ... OMIM:619428
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Secondary microcephaly, Cerebral atrophy, Hydrocephalus, Hypoplasia of the corpus callosum ORPHA:397951
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Dandy-Walker malformation, Hydrocephalus, Truncal ataxia, Posterior fos... OMIM:220220
Joubert Syndrome 38
Small pituitary gland, Molar tooth sign on MRI, Short stature, Decreased response to growth hormo... OMIM:619476
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Febrile seizure (within the a... ORPHA:86909
Greig Cephalopolysyndactyly Syndrome
Seizure, Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Temple Syndrome
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... ORPHA:254516
Weaver Syndrome
Absent septum pellucidum, Dilation of lateral ventricles, Seizure OMIM:277590
X-Linked Intellectual Disability, Hedera Type
Hypoplasia of the corpus callosum, Dysmetria, Atonic seizure, Inability to walk, Unsteady gait, G... ORPHA:93952
Alkuraya-Kucinskas Syndrome
Kinked brainstem, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Hypoplasia of the ... OMIM:617822
Joubert Syndrome 37
Short stature, Molar tooth sign on MRI, Hypoplasia of the corpus callosum OMIM:619185
Muscle-Eye-Brain Disease
Seizure, Gait disturbance, Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Generalized myoclonic seizure, Generalized tonic seizure, Hypoplasia of the cor... OMIM:612164
Krabbe Disease
Increased CSF protein, Diffuse cerebral atrophy, Seizure, Hydrocephalus OMIM:245200
Prader-Willi Syndrome Due To Translocation
Intrauterine growth retardation, Anterior pituitary hypoplasia, Microcephaly, Short stature, Cere... ORPHA:177907
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI, Ataxia OMIM:612291
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Generalized myoclonic seizure, Hypoplasia of the pons, Bilateral tonic... OMIM:615501
47,Xyy Syndrome
Increased circulating gonadotropin level, Seizure, Abnormal brainstem morphology, Hydrocephalus ORPHA:8
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Intrauterine growth retar... OMIM:618651
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Mosaic Trisomy 1
Dilation of lateral ventricles, Agenesis of corpus callosum, Polymicrogyria ORPHA:1692
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyperuricemia ORPHA:95409
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormal cortical gyration, Intrauterine growth retardation, Atonic seizure, Generalized myocloni... ORPHA:79351
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Abnormal caudate nucleus morphology, Abnormality of the basal gangli... ORPHA:25
Optic Pathway Glioma
Seizure, Growth delay, Hydrocephalus ORPHA:2086
Mastocytosis
Hypercalcemia ORPHA:98292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Hydrocephalus, Ventriculomegaly, Hypoplasia of the brainstem, Lissencephaly, Partial agen... OMIM:614643
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hypothalamic hamartoma, Anterior hypopituitarism, Hydrocephalus OMIM:241800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Pachygyria, Thick corpus callosum, Megalencephaly, Hypoplasia of the corpus callos... OMIM:603387
Coach Syndrome 1
Occipital encephalocele, Molar tooth sign on MRI, Growth delay, Ataxia, Seizure, Encephalocele OMIM:216360
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Holoprosencephaly, Abnormality of the diencephalon ORPHA:2165
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Joubert Syndrome 1
Hemifacial spasm, Occipital myelomeningocele, Enlarged fossa interpeduncularis, Molar tooth sign ... OMIM:213300
Cerebellar-Facial-Dental Syndrome
Severe short stature, Abnormal midbrain morphology, Ventriculomegaly, Hypoplasia of the brainstem... ORPHA:444072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the brainstem, Microcephaly, Pachygy... OMIM:613150
Spastic Ataxia 5, Autosomal Recessive
Dysmetria, Generalized myoclonic seizure, Ataxia, Dysdiadochokinesis, Bilateral tonic-clonic seiz... OMIM:614487
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Mend Syndrome
Dandy-Walker malformation, Short stature, Seizure, Hydrocephalus OMIM:300960
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Short stature, Hydrocephalus, Holoprosencephaly, Seizure, Encephalocele ORPHA:93274
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tonic seizure, Extra-axial cerebrospinal fluid accumulation, Inability to walk, Ataxia, Ventricul... OMIM:619580
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Severe short stature, Rhizomelia, Disproportionate short stature, Megalencephaly, ... OMIM:616482
Pheochromocytoma
Hypercalcemia OMIM:171300
Microgastria-Limb Reduction Defects Association
Fusion of the left and right thalami, Agenesis of corpus callosum, Porencephalic cyst, Polymicrog... OMIM:156810
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Lafora Disease
Atypical absence seizure, Atonic seizure, Inability to walk, Bilateral tonic-clonic seizure with ... ORPHA:501
1Q44 Microdeletion Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Growth delay, Microcephaly, Short stature, Hydroce... ORPHA:238769
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Focal-onset seizure, Hydrocephalus ORPHA:398189
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Temple Syndrome
Short stature, Intrauterine growth retardation, Hydrocephalus OMIM:616222
Amelocerebrohypohidrotic Syndrome
Short stature, Seizure, Hydrocephalus ORPHA:1946
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Generalized myoclonic seizure, Athetosis, Ataxia, Focal impaired awareness seizur... ORPHA:382
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Seizure, Hydrocephalus OMIM:269920
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Dandy-Walker malformation, Hydrocephalus, Truncal ataxia, Posterior fos... OMIM:220219
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Thanatophoric Dysplasia
Intrauterine growth retardation, Ventriculomegaly, Hydrocephalus, Disproportionate short-limb sho... ORPHA:2655
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Frontotemporal cerebral atrophy, Abnormal cerebral white matter m... ORPHA:275864
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Progressive microcephaly, Agenesis of corpus callosum, Hyperintensity of cerebral white matter on... ORPHA:481152
Greig Cephalopolysyndactyly Syndrome
Ve