| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Ciliary Dyskinesia, Primary, 13 |
|
Immotile cilia, Situs inversus totalis, Absent inner dynein arms, Absent outer dynein arms, Cilia... |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 18 |
|
Immotile cilia, Abdominal situs ambiguus, Situs inversus totalis, Absent inner dynein arms, Respi... |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Situs inversus totalis, Abnormal ciliary motility, Ciliary dyskinesia |
OMIM:614017 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Ciliary Dyskinesia, Primary, 7 |
|
Abnormal axonemal organization of respiratory motile cilia, Situs inversus totalis, Abnormal cili... |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 6 |
|
Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms, Abnormal cilia... |
OMIM:610852 |
| Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Dynein arm defect of respiratory mo... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Immotile cilia, Situs inversus totalis, Absent inner and outer dynein arms, Resp... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 26 |
|
Immotile cilia, Situs inversus totalis, Respiratory insufficiency due to defective ciliary cleara... |
OMIM:615500 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:215520 |
| Ciliary Dyskinesia, Primary, 32 |
|
Immotile cilia, Situs inversus totalis, Absent respiratory ciliary axoneme radial spokes, Ciliary... |
OMIM:616481 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Situs inversus totalis, Heterotaxy, A... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 24 |
|
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia |
OMIM:615481 |
| Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... |
OMIM:615451 |
| Ciliary Dyskinesia, Primary, 40 |
|
Absent outer dynein arms, Situs inversus totalis, Reduced respiratory ciliary beating frequency, ... |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 17 |
|
Dynein arm defect of respiratory motile cilia, Situs inversus totalis, Ciliary dyskinesia |
OMIM:614679 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Situs inversus totalis, Respiratory insufficiency due to defective ciliary clear... |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Immotile cilia, Situs inversus totalis, Absent inner and outer dynein arms, Resp... |
OMIM:615444 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Ciliary Dyskinesia, Primary, 29 |
|
Situs inversus totalis, Ciliary dyskinesia |
OMIM:615872 |
| Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Immotile cilia, Situs inversus totalis, Absent inner and outer dynein arms, Cili... |
OMIM:606763 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile cilia, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Ciliary dyskin... |
OMIM:242670 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Absent outer dynein arms, Ciliary dyskinesia |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Absent inner and outer dynein arms |
OMIM:618801 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Situs inversus totalis, Ciliary dyskinesia |
OMIM:620197 |
| Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... |
OMIM:615504 |
| Ciliary Dyskinesia, Primary, 38 |
|
Immotile cilia, Situs inversus totalis, Absent inner and outer dynein arms |
OMIM:618063 |
| Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Situs inversus totalis... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 11 |
|
Immotile cilia, Abnormal central microtubular pair morphology of respiratory motile cilia, Ciliar... |
OMIM:612649 |
| Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Situs inversus total... |
OMIM:613808 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Situs inversus tot... |
OMIM:608647 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Reduced respiratory cili... |
OMIM:617091 |
| Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
| Ciliary Dyskinesia, Primary, 25 |
|
Immotile cilia, Gastroesophageal reflux, Situs inversus totalis, Ciliary dyskinesia |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Immotile cilia, Situs inversus totalis, Communicating hydrocephalus, Absent oute... |
OMIM:244400 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:225050 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Ciliary Dyskinesia, Primary, 46 |
|
Ciliary dyskinesia |
OMIM:619436 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Ciliary Dyskinesia, Primary, 21 |
|
Ciliary dyskinesia |
OMIM:615294 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia |
OMIM:616726 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia |
ORPHA:1882 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Atrial situs inversus, Respiratory insufficiency due to defective ciliary... |
OMIM:615067 |
| Masa Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:303350 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Ciliary Dyskinesia, Primary, 44 |
|
Heterotaxy |
OMIM:618781 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus |
OMIM:614120 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| 1Q21.1 Microduplication Syndrome |
|
Gastroesophageal reflux, Hydrocephalus |
ORPHA:250994 |
| Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251915 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Fried Syndrome |
|
High palate, Hydrocephalus |
ORPHA:85335 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus |
ORPHA:2182 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hydrocephalus |
OMIM:619301 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, High palate, Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:203450 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Anal atresia, Isome... |
OMIM:314390 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Anal atresia, Hydrocephalus, Stillbirth |
OMIM:276950 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus |
OMIM:610333 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Celiac disease, Hydrocephalus |
OMIM:248000 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... |
OMIM:616034 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
| Congenital Toxoplasmosis |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:858 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Meckel diverticulum, Hydrocephalus, Dysphagia, Dandy-Walker malformation |
ORPHA:163961 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Situs inversus totalis, Encephalocele, Hydrocephalus, Meningocele, Holoprosenc... |
ORPHA:1908 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
| Ciliary Dyskinesia, Primary, 43 |
|
Abdominal situs inversus, Noncommunicating hydrocephalus |
OMIM:618699 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:602501 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618577 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia, Neonatal death |
OMIM:601612 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:272 |
| Alexander Disease Type I |
|
Dysphagia, Hydrocephalus |
ORPHA:363717 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Rhombencephalosynapsis |
|
Ventriculomegaly, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, Hydroceph... |
ORPHA:59315 |
| Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Ventriculomegaly, Hydrocephalus |
ORPHA:2770 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Hydrocephalus, Pyloric stenosis |
OMIM:218350 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:613153 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Hydrocephalus |
OMIM:613155 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Renpenning Syndrome |
|
High, narrow palate, Anal atresia, Cleft palate, Heterotaxy |
ORPHA:3242 |
| Houge-Janssens Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus, Pyloric stenosis |
OMIM:616355 |
| Hydrolethalus |
|
Bifid uvula, Submucous cleft hard palate, Tracheal atresia, Hydrocephalus, Anencephaly, Cleft palate |
ORPHA:2189 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
| Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele |
ORPHA:93274 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Bresek Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Cleft palate, Neonatal death |
ORPHA:85284 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia |
ORPHA:93941 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:611134 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Holoprosencephaly, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus |
ORPHA:77298 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
| Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Anorectal anomaly, Abnormal gastrointestinal tract morphology, Abnormal ... |
ORPHA:1834 |
| Infantile Sialic Acid Storage Disease |
|
High palate, Hydrocephalus |
OMIM:269920 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
High palate, Hydrocephalus |
OMIM:300558 |
| Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Perineal fistula, Hydrocephalus, Rectal atresia, Anal atresia, Rectovaginal fistula |
ORPHA:3016 |
| Krabbe Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:245200 |
| Pallister-Hall-Like Syndrome |
|
Microglossia, Occipital encephalocele, Hydrocephalus, Cleft palate |
OMIM:241800 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Greig Cephalopolysyndactyly Syndrome |
|
Ventriculomegaly, Anal atresia, Hydrocephalus |
OMIM:175700 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Myelomeningocele, Situs inversus totalis, Ectopic anus, Hydrocephalus, Spina bifid... |
OMIM:613686 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Ventriculomegaly, Ileus, Colpocephaly, Hydrocephalus, High palate |
OMIM:620156 |
| Metatropic Dysplasia |
|
Hydrocephalus, Cleft palate |
ORPHA:2635 |
| Myopathy, Centronuclear, X-Linked |
|
High palate, Hydrocephalus, Dandy-Walker malformation, Pyloric stenosis |
OMIM:310400 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
| Dextrocardia |
|
Meckel diverticulum, Abnormality of abdominal situs, Intestinal malrotation, Situs inversus total... |
ORPHA:1666 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:225790 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Temple Syndrome |
|
Bifid uvula, Hydrocephalus |
ORPHA:254516 |
| Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Nasal polyposis, Intestinal malrotation, Situs inversus totalis, Hydrocephalus |
ORPHA:244 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Duodenal atresia |
OMIM:300514 |
| Temple Syndrome |
|
Bifid uvula, High palate, Hydrocephalus, Cleft palate |
OMIM:616222 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Tracheoesophageal fistula, Hydrocephalus, Spina bifida, Spina bifida occulta, H... |
ORPHA:2437 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus |
OMIM:614195 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
| Williams-Beuren Region Duplication Syndrome |
|
Ventriculomegaly, High palate, Hydrocephalus |
OMIM:609757 |
| Triploidy |
|
Intestinal malrotation, Hydrocephalus, Macroglossia, Meningocele, Holoprosencephaly, Cleft palate |
ORPHA:3376 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
| Thanatophoric Dysplasia |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2655 |
| Houge-Janssens Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616362 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Hydrocephalus |
OMIM:109120 |
| Ritscher-Schinzel Syndrome 1 |
|
Anal atresia, Dandy-Walker malformation, Hydrocephalus, Cleft palate |
OMIM:220210 |
| 3C Syndrome |
|
High, narrow palate, Ventriculomegaly, Gastroesophageal reflux, Intestinal malrotation, Ectopic a... |
ORPHA:7 |
| Emanuel Syndrome |
|
Ventriculomegaly, Gastroesophageal reflux, Intestinal malrotation, Anal atresia, Hydrocephalus, D... |
OMIM:609029 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Hydrocephalus, Macroglossia |
ORPHA:370959 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ventriculomegaly, Gastroesophageal reflux, Colpocephaly, Hydrocephalus, High palate |
OMIM:619833 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615630 |
| Crouzon Syndrome |
|
Narrow palate, Hydrocephalus |
ORPHA:207 |
| Griscelli Syndrome |
|
Hydrocephalus, Encephalocele, Pyloric stenosis |
ORPHA:381 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Ventriculomegaly, Inflammation of the large intestine, Hydrocephalus, Esophageal varix |
OMIM:614576 |
| Emanuel Syndrome |
|
Bifid uvula, Ventriculomegaly, Gastroesophageal reflux, Ectopic anus, Anal atresia, Hydrocephalus... |
ORPHA:96170 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus |
OMIM:615219 |
| Joubert Syndrome |
|
Hydrocephalus, Aganglionic megacolon, Situs inversus totalis, Encephalocele |
ORPHA:475 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... |
OMIM:613154 |
| Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:217090 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
| 1Q44 Microdeletion Syndrome |
|
Intestinal malrotation, Ventriculomegaly, High palate, Hydrocephalus |
ORPHA:238769 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Ventriculomegaly, Tracheal stenosis, Cleft soft palate |
OMIM:620183 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Hydrocephalus |
ORPHA:2180 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| Mounier-Kühn Syndrome |
|
Tracheal stenosis |
ORPHA:3347 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Hydrocephalus |
OMIM:219730 |
| Fg Syndrome Type 1 |
|
Ventriculomegaly, Abnormal large intestine morphology, Gastroesophageal reflux, Anal atresia, Hyd... |
ORPHA:93932 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Hydrocephalus, Midgut malrotation, Cleft palate, Pyloric stenosis |
ORPHA:2409 |
| Pfeiffer Syndrome Type 2 |
|
Intestinal malrotation, Hydrocephalus, High palate, Aqueductal stenosis, Anal atresia, Cleft palate |
ORPHA:93259 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:603387 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Tracheal stenosis, Anal atresia, Hydrocephalus |
ORPHA:3301 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Protruding tongue, Hydrocephalus, Cleft palate, Dandy-Walker malformation |
OMIM:612938 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Intestinal malrotation, Ventriculomegaly, Choroid plexus cyst, Hydrocephalus |
OMIM:617866 |
| Vacterl With Hydrocephalus |
|
Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Spina bifida, Aqueductal stenosis, ... |
ORPHA:3412 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
High palate, Anal atresia, Hydrocephalus, Dandy-Walker malformation |
OMIM:612582 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:304340 |
| Muenke Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:53271 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly... |
OMIM:619895 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Hydrocephalus, Cleft palate |
ORPHA:1926 |
| Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus |
OMIM:272200 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Lateral ventricle dilatation, Anteriorly placed anus, Submucous cleft hard p... |
OMIM:612863 |
| Trisomy 1Q |
|
Ventriculomegaly, Anal atresia, Hydrocephalus, Cleft palate |
ORPHA:261344 |
| Stromme Syndrome |
|
Intestinal malrotation, Jejunal atresia, Hydrocephalus, Stillbirth, Duodenal atresia, Cleft palate |
OMIM:243605 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:60040 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Cleft palate, Dandy-Walker malformation |
OMIM:614424 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Tracheal stenosis, Dandy-Walker malformation |
OMIM:601427 |
| Fraser Syndrome 3 |
|
Tracheal atresia, Hydrocephalus, Stillbirth |
OMIM:617667 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Anteriorly placed anus, Abnormal rectum morphology, Aganglionic megacolon, Hydrocephalus, Cleft p... |
OMIM:239300 |
| Fanconi Anemia, Complementation Group R |
|
Anal atresia, Hydrocephalus |
OMIM:617244 |
| Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2169 |
| Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1647 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Neonatal death |
OMIM:187600 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia |
ORPHA:90065 |
| Walker-Warburg Syndrome |
|
Bifid uvula, Ventriculomegaly, Submucous cleft hard palate, Hydrocephalus, Dandy-Walker malformat... |
ORPHA:899 |
| Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, High palate, Hydrocephalus, Dandy-Walker malformation |
OMIM:617822 |
| Tenorio Syndrome |
|
Macroglossia, Ventriculomegaly, Gastroesophageal reflux, Hydrocephalus |
OMIM:616260 |
| Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Aganglionic megacolon, Encephalocele, Cleft palate |
ORPHA:220497 |
| Trisomy 17P |
|
Macroglossia, High palate, Hydrocephalus, Cleft palate |
ORPHA:261290 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
High palate, Gastroesophageal reflux, Hydrocephalus |
OMIM:612940 |
| Double Outlet Right Ventricle |
|
Intestinal malrotation, Cleft palate, Heterotaxy, Submucous cleft hard palate |
ORPHA:3426 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Tracheal stenosis, Anal atresia, Tracheoesophageal fistula, Anorectal an... |
ORPHA:887 |
| Iniencephaly |
|
Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Anal atresia, Ho... |
ORPHA:63259 |
| Apert Syndrome |
|
Bifid uvula, Ventriculomegaly, Ectopic anus, Esophageal atresia, Hydrocephalus, Narrow palate, Cl... |
ORPHA:87 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Cleft palate |
ORPHA:459061 |
| Thanatophoric Dysplasia Type 1 |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:1860 |
| Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Aganglionic megacolon, Encephalocele |
ORPHA:2318 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Microglossia, Spina bifida, Hydrocephalus, Cleft palate |
ORPHA:2839 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hydrocephalus |
OMIM:601499 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Gastroesophageal reflux, Hydrocephalus, Neonatal death |
OMIM:616482 |
| Cole-Carpenter Syndrome 2 |
|
High palate, Hydrocephalus |
OMIM:616294 |
| Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Aganglionic megacolon, Encephalocele, Cleft palate |
ORPHA:220493 |
| Desmosterolosis |
|
Bifid uvula, Ventriculomegaly, Intestinal malrotation, Submucous cleft hard palate, Hydrocephalus... |
ORPHA:35107 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ventriculomegaly, High palate, Hydrocephalus |
OMIM:614969 |
| Adams-Oliver Syndrome |
|
Hydrocephalus, Gastrointestinal hemorrhage, Encephalocele, Esophageal varix |
ORPHA:974 |
| Thakker-Donnai Syndrome |
|
Anal atresia, Rectovaginal fistula, Communicating hydrocephalus, Tracheoesophageal fistula |
ORPHA:1780 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
| Tracheobronchopathia Osteochondroplastica |
|
Tracheal stenosis, Esophagitis |
ORPHA:3348 |
| Osteootohepatoenteric Syndrome |
|
Increased intestinal transit time, Villous atrophy, Ileoileal intussusception, Hydrocephalus |
OMIM:619377 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Dilated third ventricle, Ventriculomegaly, Gastroesophageal reflux, Hydrocephalus |
ORPHA:500055 |
| Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus, High palate, Neonatal death |
OMIM:620351 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616538 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Neonatal death, Hydrocephalus, ... |
OMIM:269860 |
| Mirage Syndrome |
|
Gastroesophageal reflux, Achalasia, Hydrocephalus, Esophageal stricture |
OMIM:617053 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus |
OMIM:614886 |
| Opitz-Kaveggia Syndrome |
|
Narrow palate, Anal stenosis, Anteriorly placed anus, Intestinal malrotation, Hydrocephalus, Anal... |
OMIM:305450 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Hydrocephalus, Encephalocele, Cleft palate |
OMIM:224400 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Anteriorly placed anus, Narrow palate, Hydrocephalus, Cleft palate |
ORPHA:1555 |
| Pseudotrisomy 13 Syndrome |
|
Median cleft palate, Encephalocele, Hydrocephalus, Anal atresia, Holoprosencephaly |
OMIM:264480 |
| Mucopolysaccharidosis, Type Ii |
|
Hydrocephalus, Macroglossia, Intestinal pseudo-obstruction |
OMIM:309900 |
| Peho Syndrome |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2836 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Ventriculomegaly, Hydrocephalus, Cleft palate |
ORPHA:1812 |
| Gracile Bone Dysplasia |
|
Ankyloglossia, Hydrocephalus |
OMIM:602361 |
| Jung Syndrome |
|
Tracheal stenosis |
ORPHA:2321 |
| Fanconi Anemia, Complementation Group L |
|
Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Anal atresia, Cleft palate |
OMIM:614083 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrocephalus, Encephalocele, Cleft palate |
ORPHA:1865 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid uvula, Ventriculomegaly, Anteriorly placed anus, Hydrocephalus, High palate, Narrow palate |
OMIM:123790 |
| Tetrasomy 5P |
|
High palate, Hydrocephalus |
ORPHA:3309 |
| Crouzon Syndrome |
|
High palate, Hydrocephalus |
OMIM:123500 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
High, narrow palate, Lateral ventricular asymmetry, High palate, Hydrocephalus |
OMIM:616914 |
| Apert Syndrome |
|
Bifid uvula, Ventriculomegaly, Ectopic anus, Esophageal atresia, Hydrocephalus, Narrow palate, Cl... |
OMIM:101200 |
| Orofaciodigital Syndrome Ii |
|
Hydrocephalus, Bifid tongue, High palate, Tongue nodules, Cleft palate, Lobulated tongue |
OMIM:252100 |
| Congenital Sialidosis Type 2 |
|
Hydrocephalus, Protruding tongue |
ORPHA:93400 |
| Pfeiffer Syndrome |
|
High palate, Hydrocephalus |
OMIM:101600 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus |
OMIM:619951 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Ventriculomegaly, Encephalocele, Hydrocephalus, Macroglossia, Cleft palate |
OMIM:613150 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus, Cleft palate, Duodenal atresia, Dandy-Walker malformation |
OMIM:257300 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus, Cleft palate |
ORPHA:2075 |
| Joubert Syndrome 2 |
|
Hydrocephalus, High palate, Enlarged fossa interpeduncularis, Encephalocele |
OMIM:608091 |
| Distal Triplication 15Q |
|
High palate, Hydrocephalus, Dandy-Walker malformation |
ORPHA:314588 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hydrocephalus, Holoprosencephaly, Encephalocele |
OMIM:253800 |
| Lateral Meningocele Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Meningocele |
OMIM:130720 |
| Icf Syndrome |
|
Macroglossia, Communicating hydrocephalus, Protruding tongue |
ORPHA:2268 |
| 47,Xyy Syndrome |
|
Hydrocephalus |
ORPHA:8 |
| Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
| Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Intestinal malrotation, Situs inversus totalis, Heterotaxy |
OMIM:616749 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
High palate, Hydrocephalus |
ORPHA:2720 |
| Pendred Syndrome |
|
Tracheal stenosis |
ORPHA:705 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Ventriculomegaly, Encephalocele, Dandy-Walker malformation |
OMIM:614643 |
| Chromosome 17P13.1 Deletion Syndrome |
|
High, narrow palate, High palate, Hydrocephalus, Spina bifida |
OMIM:613776 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Hypomandibular Faciocranial Dysostosis |
|
Tracheal stenosis, Bifid uvula, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:1790 |
| Partial Atrioventricular Septal Defect |
|
Heterotaxy |
ORPHA:1330 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Intestinal malrotation, Encephalocele, Hydrocephalus, Anal atresia, Holoprosencephaly, Cleft palate |
ORPHA:2166 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Ventriculomegaly, Hydrocephalus |
OMIM:613603 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
High palate, Hydrocephalus |
OMIM:618590 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hydrocephalus |
ORPHA:3452 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Ventriculomegaly, Hamartoma of tongue, Occipital meningocele, Hydrocephalus, Anencephaly, Cleft p... |
OMIM:616546 |
| Pentalogy Of Cantrell |
|
Hydrocephalus, Anencephaly, Encephalocele |
ORPHA:1335 |
| Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Furrowed tongue, Situs inversus totalis, Encephalocele, Hydroce... |
ORPHA:564 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Anal atresia... |
OMIM:236670 |
| Arachnoid Cyst |
|
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele |
ORPHA:2356 |
| Mycophenolate Mofetil Embryopathy |
|
Tracheoesophageal fistula, Hydrocephalus |
ORPHA:268249 |
| Thoracoabdominal Syndrome |
|
Anencephaly, Hydrocephalus |
OMIM:313850 |
| Cerebrooculonasal Syndrome |
|
Ventriculomegaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, High palate, Narrow pa... |
OMIM:605627 |
| Raine Syndrome |
|
Protruding tongue, Neonatal death, Hydrocephalus, High palate, Cleft palate |
OMIM:259775 |
| Osteopathia Striata With Cranial Sclerosis |
|
Bifid uvula, Anal stenosis, Gastroesophageal reflux, Intestinal malrotation, Anal atresia, Hydroc... |
OMIM:300373 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Bilateral cleft palat... |
OMIM:610828 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anteriorly placed anus, Colonic atresia, Colpocephaly, Hydrocephalus, Anal atresia, Cleft palate |
OMIM:309801 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules, Dysphagia |
ORPHA:25 |
| Endocrine-Cerebroosteodysplasia |
|
Ventriculomegaly, Holoprosencephaly, Median cleft palate, Hydrocephalus |
OMIM:612651 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Abdominal situs inversus, Myelomeningocele, Posteriorly placed anus, Right atrial isomerism, Hydr... |
OMIM:306955 |
| Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
| Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
| 15Q Overgrowth Syndrome |
|
High, narrow palate, Bifid uvula, Hydrocephalus, High palate, Dandy-Walker malformation |
ORPHA:314585 |
| Marden-Walker Syndrome |
|
Bifid uvula, Situs inversus totalis, Submucous cleft hard palate, Hydrocephalus, Cleft palate, Py... |
ORPHA:2461 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Ventriculomegaly, Hydrocephalus, Stillbirth |
OMIM:259720 |
| Cardiofaciocutaneous Syndrome 1 |
|
High palate, Gastroesophageal reflux, Hydrocephalus, Submucous cleft hard palate |
OMIM:115150 |
| Cardiofaciocutaneous Syndrome |
|
Functional abnormality of the gastrointestinal tract, Submucous cleft hard palate, Abnormality of... |
ORPHA:1340 |
| Joubert Syndrome With Hepatic Defect |
|
Neoplasm of the liver, Occipital encephalocele, Hydrocephalus |
ORPHA:1454 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Hematochezia, Dilated third ventricle, Lateral ventricle dilatation, Hydroce... |
OMIM:619575 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:395 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Ventriculomegaly, Tracheal stenosis, Dandy-Walker malformation |
OMIM:302960 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Normal pressure hydrocephalus, High palate, Lateral ventricle dilatation |
ORPHA:300570 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus, Pyloric stenosis |
ORPHA:1571 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Narrow palate, High palate, Gastroesophageal reflux, Hydrocephalus |
OMIM:182212 |
| Alexander Disease |
|
Aqueductal stenosis, High palate, Dysphagia, Hydrocephalus |
ORPHA:58 |
| Holoprosencephaly |
|
Gastroesophageal reflux, Spinal dysraphism, Median cleft palate, Encephalocele, Intestinal atresi... |
ORPHA:2162 |
| Medulloblastoma |
|
Hydrocephalus, Adenomatous colonic polyposis |
ORPHA:616 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus |
OMIM:207410 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Achalasia, Hydrocephalus |
OMIM:616007 |
| Desmosterolosis |
|
Ventriculomegaly, Hydrocephalus, Cleft palate |
OMIM:602398 |
| Dubowitz Syndrome |
|
Anal stenosis, Submucous cleft hard palate, Hydrocephalus, Spina bifida occulta, High palate, Rec... |
ORPHA:235 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Anteriorly placed anus, Tracheal stenosis, Cleft palate |
OMIM:217980 |
| Fanconi Anemia |
|
Ventriculomegaly, Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Agangl... |
ORPHA:84 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Colpocephaly, Hydrocephal... |
OMIM:620371 |
| Mucopolysaccharidosis, Type Vii |
|
Macroglossia, Hydrocephalus |
OMIM:253220 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus, Cleft palate |
OMIM:245600 |
| Hurler Syndrome |
|
Macroglossia, Hydrocephalus |
OMIM:607014 |
| Marshall-Smith Syndrome |
|
Ventriculomegaly, Anteriorly placed anus, Hydrocephalus, High palate, Glossoptosis, Pyloric stenosis |
OMIM:602535 |
| Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Encephalocele, Hydrocephalus, Glossoptosis, Cleft palate |
ORPHA:90652 |
| Fanconi Anemia, Complementation Group D2 |
|
Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus |
OMIM:227646 |
| Monosomy 18Q |
|
High palate, Hydrocephalus |
ORPHA:1600 |
| Cousin Syndrome |
|
Hydranencephaly, Microglossia, Hydrocephalus, Cleft palate |
OMIM:260660 |
| Orofaciodigital Syndrome I |
|
Hamartoma of tongue, Ankyloglossia, Myelomeningocele, Hydrocephalus, Bifid tongue, High palate, T... |
OMIM:311200 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
High, narrow palate, Ventriculomegaly, Hydrocephalus |
ORPHA:228308 |
| Basal Cell Nevus Syndrome 1 |
|
Hamartomatous stomach polyps, Spina bifida, Hydrocephalus, Cleft palate |
OMIM:109400 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
High palate, Hydrocephalus |
OMIM:104350 |
| Jacobsen Syndrome |
|
Holoprosencephaly, Hydrocephalus, Pyloric stenosis |
OMIM:147791 |
| Neurooculorenal Syndrome |
|
Ventriculomegaly, Anteriorly placed anus, Intestinal malrotation, Hydrocephalus, Aqueductal stenosis |
OMIM:620305 |
| 1Q21.1 Microdeletion Syndrome |
|
Ankyloglossia, High palate, Hydrocephalus |
ORPHA:250989 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
| Isotretinoin-Like Syndrome |
|
Gastroesophageal reflux, Hydrocephalus, Cleft palate |
ORPHA:2306 |
| Hypoplasminogenemia |
|
Duodenal ulcer, Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Ventriculomegaly, Tracheal stenosis |
ORPHA:2637 |
| Congenital Syphilis |
|
High palate, Hydrocephalus, CSF pleocytosis |
ORPHA:499009 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Tracheal stenosis, Hydrocephalus, Cleft palate |
ORPHA:163979 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Communicating hydrocephalus, Anencephal... |
OMIM:615287 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
High palate, Hydrocephalus |
OMIM:618162 |
| Hurler-Scheie Syndrome |
|
Tracheal stenosis |
OMIM:607015 |
| Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
| Mucopolysaccharidosis Type 1 |
|
Hydrocephalus |
ORPHA:579 |
| Meckel Syndrome, Type 1 |
|
Ventriculomegaly, Occipital encephalocele, Intestinal malrotation, Dilated fourth ventricle, Hydr... |
OMIM:249000 |
| Oeis Complex |
|
Anteriorly placed anus, Duplicated colon, Intestinal malrotation, Myelomeningocele, Hydrocephalus... |
OMIM:258040 |
| Hurler Syndrome |
|
Macroglossia, Hydrocephalus |
ORPHA:93473 |
| 7Q11.23 Microduplication Syndrome |
|
Ventriculomegaly, High palate, Hydrocephalus |
ORPHA:96121 |
| Hyperparathyroidism, Transient Neonatal |
|
Ventriculomegaly, Communicating hydrocephalus, Gastroesophageal reflux |
OMIM:618188 |
| Sturge-Weber Syndrome |
|
Dysphagia, Hydrocephalus |
ORPHA:3205 |
| Mucopolysaccharidosis Type 3 |
|
Macroglossia, Ventriculomegaly, Dysphagia, Hydrocephalus |
ORPHA:581 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus |
OMIM:101800 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, High palate, Hydrocephalus |
OMIM:619512 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus |
ORPHA:157 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Microglossia, Intestinal malrotation, Aganglionic megacolon... |
OMIM:270400 |
| Coccidioidomycosis |
|
Increased CSF protein concentration, Hypoglycorrhachia, CSF lymphocytic pleiocytosis, Hydrocephal... |
ORPHA:228123 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Gastroesophageal reflux, Anteriorly placed anus, Hydrocephalus, Stillbirth |
ORPHA:95699 |
| Monosomy 9Q22.3 |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:77301 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Macroglossia, Hydrocephalus, Recurrent gastroenteritis |
ORPHA:505248 |
| H Syndrome |
|
Hydrocephalus |
ORPHA:168569 |
| Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Hydrocephalus, Cleft palate, Dandy-Walker malformation |
ORPHA:264450 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Hydrocephalus |
ORPHA:536467 |
| Aymé-Gripp Syndrome |
|
Ventriculomegaly, Hydrocephalus, Cleft palate |
ORPHA:1272 |
| Frontometaphyseal Dysplasia 2 |
|
Bifid uvula, Gastroesophageal reflux, Tracheal stenosis, High palate, Ulcerative colitis, Cleft p... |
OMIM:617137 |
| Limb Body Wall Complex |
|
Myelomeningocele, Encephalocele, Abnormal intestine morphology, Hydrocephalus, Spina bifida, Spin... |
ORPHA:2369 |
| Shprintzen-Goldberg Syndrome |
|
High, narrow palate, Ventriculomegaly, Communicating hydrocephalus, Gastroesophageal reflux |
ORPHA:2462 |
| Smith-Lemli-Opitz Syndrome |
|
Ventriculomegaly, Gastroesophageal reflux, Microglossia, Tracheal stenosis, Aganglionic megacolon... |
ORPHA:818 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Tracheal stenosis, Gastroesophageal reflux |
ORPHA:79345 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Macroglossia, Hydrocephalus |
OMIM:253200 |
| Acrofacial Dysostosis 1, Nager Type |
|
Velopharyngeal insufficiency, Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis, Cleft pa... |
OMIM:154400 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Intestinal malrotation, Anorectal anomaly, ... |
ORPHA:567 |
| Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Tracheal stenosis, Spinal dysraphism |
ORPHA:175 |
| Igg4-Related Thyroid Disease |
|
Tracheal stenosis, Sialadenitis, Dysphagia |
ORPHA:64744 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
| Hajdu-Cheney Syndrome |
|
Intestinal malrotation, Hydrocephalus, Cleft palate |
ORPHA:955 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
| Holoprosencephaly 9 |
|
Alobar holoprosencephaly, Bilateral cleft palate, Short hard palate, Hydrocephalus, Holoprosencep... |
OMIM:610829 |
| Kabuki Syndrome |
|
Ventriculomegaly, High palate, Hydrocephalus, Cleft palate |
ORPHA:2322 |
| Hajdu-Cheney Syndrome |
|
Intestinal malrotation, High palate, Hydrocephalus |
OMIM:102500 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Tracheal stenosis |
ORPHA:93352 |
| Mend Syndrome |
|
High palate, Dandy-Walker malformation, Hydrocephalus, Cleft palate |
ORPHA:401973 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus |
OMIM:616084 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:457284 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glossitis, Hydrocephalus |
ORPHA:79282 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Macroglossia, High palate, Anal atresia, Hydrocephalus |
ORPHA:261337 |
| Semilobar Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Hydrocephalus, ... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Hydrocephalus, ... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Hydrocephalus, ... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Hydrocephalus, ... |
ORPHA:93924 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Ventriculomegaly, Short uvula, Ankyloglossia, Decreased CSF 5-methyltetrahyd... |
OMIM:619475 |
| Hydrolethalus Syndrome 1 |
|
Tracheal stenosis, Cleft palate, Stillbirth, Anencephaly, Dandy-Walker malformation, Severe hydro... |
OMIM:236680 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Bifid uvula, Submucous cleft hard palate, Hydrocephalus, Cleft palate |
ORPHA:2658 |
| Mend Syndrome |
|
High palate, Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Gastroesophageal reflux, Tracheoesophageal fistula, Hydrocephalus, Rectoperineal f... |
OMIM:107480 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hydrocephalus |
OMIM:261740 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hydrocephalus, Ventriculomegaly, Gastric ulcer, Esophageal varix |
ORPHA:2072 |
| Granulomatosis With Polyangiitis |
|
Tracheal stenosis, Nasal mucosa vasculitis |
OMIM:608710 |
| Diets-Jongmans Syndrome |
|
Duodenal atresia, Heterotaxy |
OMIM:618846 |
| Fetal Akinesia Deformation Sequence 1 |
|
High, narrow palate, Hydrocephalus, Stillbirth, High palate, Cleft palate |
OMIM:208150 |
| Fontaine Progeroid Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Anteriorly placed anus, Protruding tongue, Neonatal... |
OMIM:612289 |
| Kabuki Syndrome 1 |
|
Anal stenosis, Anoperineal fistula, Lateral ventricle dilatation, Intestinal malrotation, Anal at... |
OMIM:147920 |
| Campomelic Dysplasia |
|
Spinal dysraphism, Submucous cleft hard palate, Spina bifida, Hydrocephalus, High palate, Cleft p... |
OMIM:114290 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Ventriculomegaly, Spina bifida |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly, Spina bifida |
ORPHA:363958 |
| Craniopharyngioma |
|
Hydrocephalus |
ORPHA:54595 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Cleft palate |
ORPHA:137675 |
| Costello Syndrome |
|
Ventriculomegaly, Hydrocephalus, Macroglossia, High palate, Pyloric stenosis |
OMIM:218040 |
| Osteogenesis Imperfecta |
|
Ventriculomegaly, Intestinal obstruction, Hydrocephalus, Dysphagia, Noncommunicating hydrocephalus |
ORPHA:666 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Ventriculomegaly, High palate, Communicating hydrocephalus |
OMIM:617011 |
| Full Nf2-Related Schwannomatosis |
|
Hydrocephalus, Dysphagia, Myelopathy |
ORPHA:637 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Fraser Syndrome 1 |
|
Myelomeningocele, Abnormal small intestine morphology, Encephalocele, Abnormality of the anus, Hy... |
OMIM:219000 |
| Alpha-Mannosidosis, Infantile Form |
|
Macroglossia, Communicating hydrocephalus, Recurrent gastroenteritis |
ORPHA:309282 |
| Larsen Syndrome |
|
Spina bifida occulta, Tracheal stenosis, Cleft palate |
OMIM:150250 |
| Baller-Gerold Syndrome |
|
Bifid uvula, Anteriorly placed anus, Perineal fistula, Hydrocephalus, High palate, Spina bifida o... |
OMIM:218600 |
| Geleophysic Dysplasia 3 |
|
Tracheal stenosis |
OMIM:617809 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Hydrocephalus |
OMIM:619321 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal rectum morphology, Abnormality of the anus, Hydrocephalus |
ORPHA:2556 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Hydrocephalus |
ORPHA:538 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Gastroesophageal reflux, Lateral ventricle dilatation, Colpocephaly, Hydrocephalus, Stillbirth |
OMIM:210710 |
| Microphthalmia With Limb Anomalies |
|
High palate, Hydrocephalus, Cleft palate |
ORPHA:1106 |
| Craniofacioskeletal Syndrome |
|
Tracheal stenosis, Cleft palate |
OMIM:300712 |
| Focal Dermal Hypoplasia |
|
Anteriorly placed anus, Intestinal malrotation, Myelomeningocele, Hiatus hernia, Hydrocephalus, S... |
OMIM:305600 |
| Tetraamelia Syndrome 1 |
|
Anal atresia, Hydrocephalus, Cleft palate |
OMIM:273395 |
| Pseudoaminopterin Syndrome |
|
High palate, Hydrocephalus |
ORPHA:221120 |
| Meningioma |
|
Neoplasm of the tongue, Hydrocephalus |
ORPHA:2495 |
| Wolf-Hirschhorn Syndrome |
|
Ventriculomegaly, Malrotation of small bowel, Gastroesophageal reflux, Hydrocephalus, Cleft palate |
OMIM:194190 |
| Yunis-Varon Syndrome |
|
High, narrow palate, Glossoptosis, Hydrocephalus, Pyloric stenosis |
ORPHA:3472 |
| Peters Plus Syndrome |
|
Ventriculomegaly, Intestinal fistula, Hydrocephalus, Spina bifida occulta, Anal atresia, Cleft pa... |
ORPHA:709 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Ventriculomegaly, High palate, Communicating hydrocephalus |
ORPHA:457359 |
| Fraser Syndrome |
|
Anal stenosis, Myelomeningocele, Tracheal stenosis, Encephalocele, Ectopic anus, Anal atresia, Hi... |
ORPHA:2052 |
| Gaucher Disease |
|
Ventriculomegaly, Dysphagia, Hydrocephalus |
ORPHA:355 |
| Cockayne Syndrome A |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:216400 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bifid uvula, Gastroesophageal reflux, Lateral ventricle dilatation, Submucous cleft hard palate, ... |
OMIM:607872 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Gastroesophageal reflux, Lateral ventricle dilatation, Situs inversus totalis, Neonatal death, Hy... |
OMIM:619534 |
| Tetrasomy 9P |
|
Bifid uvula, Median cleft palate, Hydrocephalus, Dandy-Walker malformation, High palate, Cleft pa... |
ORPHA:3310 |
| Loeys-Dietz Syndrome 1 |
|
Bifid uvula, Eosinophilic infiltration of the esophagus, Hydrocephalus, High palate, Cleft palate |
OMIM:609192 |
| Geleophysic Dysplasia 1 |
|
Laryngotracheal stenosis, Tracheal stenosis |
OMIM:231050 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Aqueductal stenosis, High palate, Dys... |
OMIM:616462 |
| Exstrophy-Epispadias Complex |
|
Anal stenosis, Abnormality of the gastrointestinal tract, Hydrocephalus, Spina bifida, Anal atresia |
ORPHA:322 |
| Neurofibromatosis Type 1 |
|
Hydrocephalus, Gastrointestinal stroma tumor, Neoplasm of the gastrointestinal tract |
ORPHA:636 |
| Cockayne Syndrome B |
|
