| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restri... |
OMIM:611884 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:615481 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... |
OMIM:615451 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... |
OMIM:614017 |
| Ciliary Dyskinesia, Primary, 27 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:615504 |
| Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... |
OMIM:614874 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:616481 |
| Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 28 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 14 |
|
Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... |
OMIM:612444 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia |
OMIM:613193 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... |
OMIM:615294 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Ciliary Dyskinesia, Primary, 25 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Chronic pulmonary obstru... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... |
OMIM:618300 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Decreased nasal nitric o... |
OMIM:618063 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insufficiency due t... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 12 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 22 |
|
Neonatal respiratory distress, Situs inversus totalis, Bronchiectasis, Decreased nasal nitric oxi... |
OMIM:615444 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia, Chronic sinu... |
OMIM:614679 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Asthma, Bronchiectasis, Respiratory insufficiency, Decreased nasal nitric... |
OMIM:616037 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respi... |
OMIM:608647 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation |
OMIM:616816 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chro... |
OMIM:612649 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis |
OMIM:615872 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Neonatal asphyxia, Lateral ventricle dilatation |
ORPHA:306669 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... |
OMIM:617091 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent si... |
OMIM:620197 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
| Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta... |
OMIM:613808 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Situs inversus totalis, Bronchiectasis, Immotile cilia, Ciliary ... |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 6 |
|
Ciliary dyskinesia, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis |
OMIM:610852 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Bronchiectasis, Immotile cilia, C... |
OMIM:244400 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia |
OMIM:616726 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... |
OMIM:242670 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation, Respiratory insufficiency |
OMIM:617668 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Bronchiectasis, Noncommunicating hydrocephalus, ... |
OMIM:618699 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum |
OMIM:617296 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation, Respiratory insufficiency, Intercostal muscle weakness |
OMIM:607596 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
| Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Apnea, Subependymal cysts, Lateral ventricle dilatation, Decreased... |
OMIM:610015 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Partial agenesis of the corpus callosum, Increased CSF lactate, La... |
ORPHA:79243 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:618736 |
| Joubert Syndrome 3 |
|
Central apnea, Enlarged fossa interpeduncularis, Episodic tachypnea, Lateral ventricle dilatation... |
OMIM:608629 |
| Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation, Apnea, Inspiratory stridor |
OMIM:600721 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Dandy-Walker malformation, Chronic lung disease, Apnea, Tachypnea, Menin... |
ORPHA:397715 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Re... |
OMIM:618291 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Asthma, Hydrocephalus, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Partial agenesis of the corpus callosum |
OMIM:619517 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
| Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle, Asthma |
ORPHA:544488 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Asthma, Lateral ventricle dilatation, Dandy-Walker malformation, Pleural effusion |
OMIM:618606 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
| Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Lateral ventricle dilatation, Ple... |
OMIM:617397 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Tracheobronchomalacia, Recurrent pneumonia |
OMIM:617751 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Dilated third ventricle, Respiratory insufficiency, Ventriculomegaly |
OMIM:615574 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Apneic episodes in infancy, Dandy-Walker ... |
ORPHA:3078 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation |
OMIM:615716 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Recurrent pneumonia, Lateral ventricle dilatation, Pulmonary arterial hypertension, Dilated third... |
ORPHA:464738 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
OMIM:619302 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation |
ORPHA:284417 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia |
ORPHA:1882 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:304100 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Respiratory insufficiency, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
| Cach Syndrome |
|
T2 hypointense thalamus, Lateral ventricle dilatation |
ORPHA:135 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia |
OMIM:225050 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
| Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:420179 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Aicardi Syndrome |
|
Spina bifida, Partial agenesis of the corpus callosum, Recurrent pneumonia, Choroid plexus cyst, ... |
OMIM:304050 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation |
OMIM:617854 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle, Abnormal cerebrospinal fluid morphology |
ORPHA:314404 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bronchiecta... |
OMIM:615067 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation |
OMIM:614105 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory failure, Respiratory insufficiency |
OMIM:276950 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma |
ORPHA:649929 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:612863 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dandy-Walker malformation, Ventric... |
ORPHA:163961 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation |
OMIM:620075 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Respiratory failure |
OMIM:619847 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Respiratory insufficiency, Dandy-Walker malformation, Agenesis of corpus callosum,... |
OMIM:613153 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
| Coach Syndrome 2 |
|
Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum |
OMIM:619111 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:488627 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation |
OMIM:618914 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration, Lateral ventricle dilatation |
ORPHA:2148 |
| Slc35A2-Cdg |
|
Lateral ventricle dilatation, Dandy-Walker malformation |
ORPHA:356961 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
| Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum, ... |
OMIM:207950 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Lateral ventricle dilatation, Increased CSF lactate |
ORPHA:565624 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus, Abnormal thalamus morphology, Partia... |
ORPHA:300570 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Alexander Disease Type I |
|
Hydrocephalus, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Ventriculomegaly |
ORPHA:93274 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:572798 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Hydrocephalus, Wheezing,... |
ORPHA:244 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation |
OMIM:612301 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Lateral ventricle dilatation |
OMIM:611209 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Neonatal respiratory distress, Lateral ventricle dilatation, Small pituitary gland, Ventriculomegaly |
OMIM:619479 |
| Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele, Respiratory insufficiency |
ORPHA:1914 |
| Distal Deletion 10Q |
|
Lateral ventricle dilatation, Spina bifida occulta |
ORPHA:96148 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst |
ORPHA:293725 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure |
ORPHA:1861 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dilated third ventricle, Dandy... |
ORPHA:434179 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Cog5-Cdg |
|
Lateral ventricle dilatation |
ORPHA:263487 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Situs inversus totalis, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism... |
ORPHA:1908 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:175700 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:619229 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218350 |
| Noonan Syndrome 14 |
|
Lateral ventricle dilatation |
OMIM:619745 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation |
ORPHA:457279 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul... |
OMIM:225790 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamartoma |
OMIM:241800 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus |
OMIM:613155 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:1895 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:93262 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:109120 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Respiratory insufficiency, Ventriculomegaly |
ORPHA:2655 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced forced vital capa... |
OMIM:613686 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
| Temple Syndrome |
|
Hydrocephalus, Decreased response to growth hormone stimulation test |
ORPHA:254516 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
| Bainbridge-Ropers Syndrome |
|
Lateral ventricle dilatation |
OMIM:615485 |
| Aicardi-Goutieres Syndrome 9 |
|
Lateral ventricle dilatation |
OMIM:619487 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:1692 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation |
ORPHA:2822 |
| Joubert Syndrome |
|
Encephalocele, Apnea, Episodic tachypnea, Situs inversus totalis, Hydrocephalus, Abnormal pattern... |
ORPHA:475 |
| Weaver Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly |
OMIM:277590 |
| Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculomegaly |
OMIM:609757 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... |
OMIM:615219 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Renpenning Syndrome |
|
Heterotaxy |
ORPHA:3242 |
| Myopathy, Centronuclear, X-Linked |
|
Neonatal respiratory distress, Respiratory failure requiring assisted ventilation, Hydrocephalus,... |
OMIM:310400 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Decreased thalamic volume, Agen... |
ORPHA:370959 |
| Infantile Sialic Acid Storage Disease |
|
Hydrocephalus |
OMIM:269920 |
| Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Recurrent pneumonia, Upper airway obstruction, Respiratory insuffic... |
OMIM:614098 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Respiratory insufficiency |
ORPHA:1237 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Lateral ventricle dilatation, Decreased response to growth hormone stimulat... |
ORPHA:177907 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Hydro... |
ORPHA:91348 |
| Hec Syndrome |
|
Communicating hydrocephalus, Respiratory insufficiency |
ORPHA:2119 |
| Crouzon Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:207 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
| Gabriele-De Vries Syndrome |
|
Lateral ventricle dilatation |
OMIM:617557 |
| Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:619833 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Increased cir... |
ORPHA:91350 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Respiratory failure, Ventriculomegaly |
OMIM:616538 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Agenesis of corpus callosum |
OMIM:615249 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
| Halperin-Birk Syndrome |
|
Colpocephaly, Aspiration, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly |
OMIM:618651 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Decreased response to growth hormone stimulation test, Dandy-Walker malformation |
OMIM:220210 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Isomerism, Hydrocephalus |
OMIM:314390 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Apnea, Hydrocephalus, Agenesis of corpus callosum, Abnormal pattern of respiration |
ORPHA:220497 |
| Tenorio Syndrome |
|
Hydrocephalus, Recurrent pneumonia, Apnea, Ventriculomegaly |
OMIM:616260 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238769 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Respiratory insufficiency, Ventriculomegaly |
ORPHA:1860 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
| Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lateral ventricle dilatation, Respiratory failure |
OMIM:300868 |
| Helsmoortel-Van Der Aa Syndrome |
|
Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, Ventriculome... |
OMIM:615873 |
| Holoprosencephaly 14 |
|
Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus call... |
OMIM:619895 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
| Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
| Dextrocardia |
|
Situs inversus totalis, Abnormality of abdominal situs, Hydrocephalus |
ORPHA:1666 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Tachypnea, Apnea |
ORPHA:2318 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation |
OMIM:263520 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Apnea, Hydrocephalus, Agenesis of corpus callosum, Abnormal pattern of respiration |
ORPHA:220493 |
| Hydrolethalus |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2189 |
| Alkuraya-Kucinskas Syndrome |
|
Pleural effusion, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617822 |
| Bresek Syndrome |
|
Hydrocephalus |
ORPHA:85284 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| 47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Hydrocephalus, Asthma |
ORPHA:8 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Respiratory insufficiency, Colpocephaly, A... |
OMIM:617260 |
| Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Apnea, Ventriculomegaly |
OMIM:614969 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation |
OMIM:618367 |
| Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Respiratory insufficiency, Colpocephaly, ... |
OMIM:210710 |
| Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
| Emanuel Syndrome |
|
Recurrent sinusitis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:609029 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
| Emanuel Syndrome |
|
Hydrocephalus, Cough, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:96170 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:619869 |
| Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test |
OMIM:609053 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
| Trisomy 1Q |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:261344 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Hydrocephalus |
OMIM:259710 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Respiratory distress, Tracheomalacia |
ORPHA:93259 |
| Achondroplasia |
|
Hypoxemia, Restrictive ventilatory defect, Hydrocephalus |
ORPHA:15 |
| Diabetic Embryopathy |
|
Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
| Joubert Syndrome 2 |
|
Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Episodic tachypnea, Hydrocephalus... |
OMIM:608091 |
| Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:187600 |
| Spondyloenchondrodysplasia |
|
Pneumonia, Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulatio... |
ORPHA:1855 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:459061 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Pulmonary arterial hyper... |
OMIM:616482 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Noncommunicating hydrocephalus |
OMIM:619320 |
| Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
| Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation |
OMIM:181270 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
| Double Outlet Right Ventricle |
|
Heterotaxy, Tachypnea |
ORPHA:3426 |
| Walker-Warburg Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
| Partial Atrioventricular Septal Defect |
|
Heterotaxy, Exertional dyspnea |
ORPHA:1330 |
| Czeizel-Losonci Syndrome |
|
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida |
ORPHA:2437 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:612938 |
| 3C Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:7 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Agenesis of corpus ca... |
OMIM:253800 |
| Mucopolysaccharidosis, Type Ii |
|
Asthma, Hydrocephalus, Recurrent pneumonia, Tracheobronchomalacia, Airway obstruction |
OMIM:309900 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1812 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Apnea, Ventriculomegaly |
ORPHA:395 |
| Tetrasomy 5P |
|
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus |
ORPHA:3309 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Respiratory failure, Progressive ventri... |
ORPHA:500150 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:612940 |
| Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
| Fg Syndrome Type 1 |
|
Pulmonary arterial hypertension, Hydrocephalus, Small pituitary gland, Ventriculomegaly |
ORPHA:93932 |
| Rabin-Pappas Syndrome |
|
Tracheomalacia, Hypoventilation, Hydrocephalus |
OMIM:620155 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Respiratory insufficiency |
ORPHA:1865 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Ventriculomegaly |
OMIM:300514 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Walker malformation,... |
OMIM:614643 |
| Apert Syndrome |
|
Respiratory insufficiency, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:87 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
OMIM:620113 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:613150 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hydrocephalus, Pituitary hypothyroi... |
ORPHA:54595 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
| Whipple Disease |
|
Hydrocephalus, Respiratory insufficiency, Cough |
ORPHA:3452 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus |
OMIM:614886 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
| Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
| Kabuki Syndrome 1 |
|
Hydrocephalus, Recurrent aspiration pneumonia, Lateral ventricle dilatation |
OMIM:147920 |
| Adams-Oliver Syndrome |
|
Encephalocele, Pulmonary arterial hypertension, Hydrocephalus |
ORPHA:974 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Situs inversus totalis, Hydrocephalus, Asthma... |
OMIM:619534 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
| 16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Upper airway obstruction |
OMIM:207410 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:123790 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:228308 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:613001 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
| Trisomy 17P |
|
Hydrocephalus |
ORPHA:261290 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation |
OMIM:300896 |
| Lowry-Maclean Syndrome |
|
Hydrocephalus |
ORPHA:2409 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:264480 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus |
ORPHA:1834 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration |
ORPHA:1454 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hydrocephalus |
ORPHA:1555 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:607872 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
| Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
| Desmosterolosis |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:35107 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:157 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus |
ORPHA:2075 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus, Respiratory insufficiency |
OMIM:620351 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Panhypopituitar... |
OMIM:610828 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
| Achondroplasia |
|
Respiratory distress, Hydrocephalus, Upper airway obstruction |
OMIM:100800 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus |
OMIM:619951 |
| Osteootohepatoenteric Syndrome |
|
Asthma, Hydrocephalus |
OMIM:619377 |
| Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion |
ORPHA:1546 |
| Desmosterolosis |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:602398 |
| Congenital Sialidosis Type 2 |
|
Hydrocephalus |
ORPHA:93400 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Dandy-Walker ma... |
OMIM:615287 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation |
OMIM:257300 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Asthma, Hydrocephalus, Allergic rhinitis |
OMIM:618162 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:616546 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract |
OMIM:600145 |
| Lymphangioleiomyomatosis |
|
Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect, Chylothorax, Cough, Emphysema |
ORPHA:538 |
| Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Sinusitis, Apnea, Cough |
ORPHA:579 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
| Distal Triplication 15Q |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:314588 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Respiratory failure, Ventriculomegaly |
OMIM:259720 |
| Mirage Syndrome |
|
Hydrocephalus, Aspiration pneumonia |
OMIM:617053 |
| Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus |
OMIM:239300 |
| Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus |
OMIM:616914 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Agenesis... |
OMIM:236670 |
| Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Respiratory insufficiency |
ORPHA:58 |
| Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
| 15Q Overgrowth Syndrome |
|
Pulmonary arterial hypertension, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malform... |
ORPHA:314585 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
| Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
| Coccidioidomycosis |
|
Respiratory distress, Pneumonia, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Pl... |
ORPHA:228123 |
| Sturge-Weber Syndrome |
|
Hydrocephalus, Pulmonary embolism |
ORPHA:3205 |
| Choreoacanthocytosis |
|
Lateral ventricle dilatation |
ORPHA:2388 |
| Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Airway obstruction |
OMIM:253220 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Respiratory distress, Ventriculomegaly |
OMIM:618188 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Heterotaxy |
OMIM:616749 |
| Lateral Meningocele Syndrome |
|
Hydrocephalus, Meningocele |
OMIM:130720 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Aqueductal stenosis, Partial agenesis of the corpus callosum, Hydroc... |
OMIM:620305 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly, Respiratory insufficiency |
OMIM:269860 |
| Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hydrocephal... |
OMIM:610829 |
| Marshall-Smith Syndrome |
|
Apnea, Hydrocephalus, Stridor, Agenesis of corpus callosum, Aspiration pneumonia, Pulmonary arter... |
OMIM:602535 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Spina bifida |
OMIM:613776 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Hydrocephalus, Stridor, Pulmonary arterial hypertension, Airway obstruction |
ORPHA:505248 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Decreased response to growth hormone stimulation test |
OMIM:616007 |
| Capillary Malformation-Arteriovenous Malformation |
|
Chylothorax, Hydrocephalus, Epistaxis |
ORPHA:137667 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Agenesis of corpus callosum, Colpocephaly |
OMIM:309801 |
| Holoprosencephaly |
|
Encephalocele, Hydrocephalus, Respiratory insufficiency, Spinal dysraphism, Holoprosencephaly, An... |
ORPHA:2162 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus |
OMIM:104350 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
| Holoprosencephaly 13, X-Linked |
|
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly |
OMIM:301043 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficiency, Restrict... |
ORPHA:536467 |
| H Syndrome |
|
Hydrocephalus, Bronchiectasis, Chronic rhinitis |
ORPHA:168569 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Hydrocephalus, Apnea |
OMIM:261740 |
| Monosomy 18Q |
|
Hydrocephalus, Secondary growth hormone deficiency |
ORPHA:1600 |
| Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
| Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Hydrocephalus, Restrictive ventilatory defect, Cervical myelopathy, Pulmonary arterial... |
OMIM:253200 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia, Decreased thalamic volume |
ORPHA:168577 |
| Meckel Syndrome |
|
Encephalocele, Situs inversus totalis, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy... |
ORPHA:564 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:457284 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus, Decreased growth hormone responses to growth hormone-releasing hormone challenge |
OMIM:101800 |
| Stromme Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:243605 |
| Hurler Syndrome |
|
Hydrocephalus |
OMIM:607014 |
| Monosomy 9Q22.3 |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:77301 |
| 1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:250989 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Right atrial isomerism, Aqueductal stenosis, Hydrocephalus, Myelomeningocel... |
OMIM:306955 |
| Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
| Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
| Apert Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:101200 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum |
ORPHA:1780 |
| Khan-Khan-Katsanis Syndrome |
|
Colpocephaly, Ventriculomegaly |
OMIM:618460 |
| Dubowitz Syndrome |
|
Asthma, Hydrocephalus, Spina bifida occulta, Respiratory insufficiency |
ORPHA:235 |
| Hurler Syndrome |
|
Hydrocephalus, Rhinitis |
ORPHA:93473 |
| Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Hydrocephalus, Partial agenesis of the corpus callosum, Tracheomalacia, Spina bifida occulta |
OMIM:300373 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydrocephalus |
OMIM:115150 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Tachypnea, Agenesis of corpus callosum, Cough |
ORPHA:137675 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Apnea, Ventriculomegaly |
ORPHA:2462 |
| 7Q11.23 Microduplication Syndrome |
|
Tracheomalacia, Hydrocephalus, Ventriculomegaly |
ORPHA:96121 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614866 |
| Semilobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopitui... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopitui... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopitui... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopitui... |
ORPHA:93924 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus, Pulmonary embolism |
ORPHA:79282 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus c... |
OMIM:619512 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hydrocephalus, Myelomeningocele |
ORPHA:90652 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus |
OMIM:245600 |
| Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
| Mucopolysaccharidosis Type 3 |
|
Hydrocephalus, Upper airway obstruction, Ventriculomegaly, Aspiration pneumonia |
ORPHA:581 |
| Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly |
ORPHA:2166 |
| Opitz-Kaveggia Syndrome |
|
Hydrocephalus, Partial agenesis of the corpus callosum |
OMIM:305450 |
| Cardiofaciocutaneous Syndrome |
|
Hydrocephalus |
ORPHA:1340 |
| Marden-Walker Syndrome |
|
Situs inversus totalis, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2461 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus |
OMIM:182212 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
| Aymé-Gripp Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1272 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus |
ORPHA:2306 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus |
OMIM:616084 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:618820 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d... |
OMIM:114290 |
| Jacobsen Syndrome |
|
Hydrocephalus, Holoprosencephaly |
OMIM:147791 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Spina bifida, Hydrocephalus, Pineal cyst, ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Spina bifida, Hydrocephalus, Pineal cyst, ... |
ORPHA:363958 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Colpocephaly |
OMIM:620083 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Anencephaly, Dandy-Walker malfo... |
OMIM:249000 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Respiratory insufficiency |
ORPHA:163979 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
| Orofaciodigital Syndrome I |
|
Hydrocephalus, Myelomeningocele, Agenesis of corpus callosum, Hypothalamic hamartoma |
OMIM:311200 |
| Raine Syndrome |
|
Hydrocephalus |
OMIM:259775 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:261537 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Hydrocephalus, Apnea, Chronic rhinitis |
ORPHA:667 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:261552 |
| Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:227646 |
| Costello Syndrome |
|
Hydrocephalus, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia, Vent... |
OMIM:218040 |
| Trisomy 8P |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:264450 |
| Kabuki Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2322 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
| Gaucher Disease |
|
Pulmonary arterial hypertension, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly |
ORPHA:355 |
| Fanconi Anemia, Complementation Group L |
|
Hydrocephalus |
OMIM:614083 |
| Mend Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:401973 |
| Mend Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Hydrocephalus, Pulmonary arterial hypertension, Ventriculomegaly |
ORPHA:2072 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... |
ORPHA:95699 |
| Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
ORPHA:2369 |
| Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Colpocephaly, Holoprosencephaly, Dandy-Wa... |
OMIM:270400 |
| 22Q11.2 Deletion Syndrome |
|
Spina bifida, Asthma, Hydrocephalus, Chronic pulmonary obstruction, Meningocele, Occipital myelom... |
ORPHA:567 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Hydrocephalus, Respiratory failure, Agenesis of corpus callosum |
ORPHA:2556 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:154400 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly |
ORPHA:477993 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
| Diets-Jongmans Syndrome |
|
Heterotaxy |
OMIM:618846 |
| Fanconi Anemia |
|
Hydrocephalus, Spina bifida, Ventriculomegaly |
ORPHA:84 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2658 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly |
OMIM:619475 |
| Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly |
ORPHA:666 |
| Hajdu-Cheney Syndrome |
|
Hydrocephalus |
OMIM:102500 |
| Hajdu-Cheney Syndrome |
|
Hydrocephalus |
ORPHA:955 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Pneumonia |
ORPHA:309282 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Pituitary adenoma, Noncommunicating hydrocephalus, Respiratory failure, Sub... |
ORPHA:805 |
| Fontaine Progeroid Syndrome |
|
Hydrocephalus, Pneumothorax, Respiratory insufficiency, Pulmonary arterial hypertension, Recurren... |
OMIM:612289 |
| 6Q Terminal Deletion Syndrome |
|
Colpocephaly |
ORPHA:75857 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:457359 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aspiration, Abnormal lateral ventricle morphology, Asthma, Pneumonia |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aspiration, Abnormal lateral ventricle morphology, Asthma, Pneumonia |
ORPHA:353277 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:261337 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Isomerism |
OMIM:619657 |
| Pseudoaminopterin Syndrome |
|
Hydrocephalus |
ORPHA:221120 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Anterior pituitary hypoplasia, Epistaxis, Asthma, Mild fetal ventric... |
OMIM:619841 |
| Microphthalmia With Limb Anomalies |
|
Hydrocephalus |
ORPHA:1106 |
| Cockayne Syndrome A |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:216400 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
| Split Cord Malformation |
|
Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele |
ORPHA:573278 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Heterotaxy, Apneic epis... |
ORPHA:99125 |
| Fraser Syndrome 1 |
|
Encephalocele, Hydrocephalus, Myelomeningocele |
OMIM:219000 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Upper airway obstruction, Abnormal nasal mucus secretion |
ORPHA:580 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus |
OMIM:619321 |
| Oeis Complex |
|
Hydrocephalus, Myelomeningocele |
OMIM:258040 |
| Wolf-Hirschhorn Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:194190 |
| Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3472 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Pneumonia, Dandy-Walker malformation |
OMIM:264090 |
| Tetrasomy 9P |
|
Pulmonary arterial hypertension, Hydrocephalus, Dandy-Walker malformation |
ORPHA:3310 |
| Loeys-Dietz Syndrome 1 |
|
Hydrocephalus |
OMIM:609192 |
| Peters Plus Syndrome |
|
Anterior hypopituitarism, Spina bifida occulta, Hydrocephalus, Ventriculomegaly |
ORPHA:709 |
| Cockayne Syndrome B |
|
Normal pressure hydrocephalus |
OMIM:133540 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus |
OMIM:208150 |
| Focal Dermal Hypoplasia |
|
Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Myelomeningocele |
OMIM:305600 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus |
ORPHA:3042 |
| Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum |
OMIM:218600 |
| Neurofibromatosis Type 1 |
|
Hydrocephalus |
ORPHA:636 |
| Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Respiratory failure, Spina bifida, Respiratory insufficiency |
OMIM:304120 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Sinusitis |
ORPHA:363700 |
| Loeys-Dietz Syndrome 2 |
|
Hydrocephalus, Spontaneous pneumothorax |
OMIM:610168 |
| Hydrolethalus Syndrome 1 |
|
Anencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Severe hydrocephalus |
OMIM:236680 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test... |
ORPHA:3455 |
| Peters-Plus Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:261540 |
| Genitopatellar Syndrome |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Neonatal respiratory distress, Hydrocephalus, Agenesis of corpus callosum |
OMIM:312870 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
| Coffin-Siris Syndrome 12 |
|
Noncommunicating hydrocephalus |
OMIM:619325 |
| Townes-Brocks Syndrome 1 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:107480 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
| Roberts-Sc Phocomelia Syndrome |
|
Hydrocephalus, Frontal encephalocele |
OMIM:268300 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Abdominal situs ambiguus, Left Isomerism |
OMIM:619702 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum |
OMIM:164210 |
