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