| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis |
OMIM:123155 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis |
ORPHA:1538 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Kleeblattschaedel |
|
Hydrocephalus, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Limitation of joint mobility |
ORPHA:99966 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Joint laxity, Hydrocephalus |
OMIM:236660 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Limitation of joint mobility, Bone cyst, Functional abnormality of the gastrointes... |
ORPHA:2770 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| 1Q21.1 Microduplication Syndrome |
|
Arthrogryposis multiplex congenita, Hydrocephalus, Gastroesophageal reflux |
ORPHA:250994 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Hydrocephalus, Cleft ... |
ORPHA:2635 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
High palate, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly |
OMIM:304100 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Flexion contracture |
OMIM:300884 |
| Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate |
ORPHA:945 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... |
ORPHA:2198 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Craniosynostosis |
ORPHA:1528 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Craniosynostosis |
OMIM:612247 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus, Anal atresia |
OMIM:312190 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Radial club hand, Hydrocephalus, Anal atresia |
OMIM:276950 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Fried Syndrome |
|
Hydrocephalus, High palate |
ORPHA:85335 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Elbow flexion contracture |
OMIM:619470 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Communicating hydrocephalus, Recurrent fractures, Hydrocephalus, Reduced bone mineral... |
OMIM:112240 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Cleft palate |
OMIM:614120 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon |
ORPHA:275543 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Hydrocephalus, Cranial hyperostosis... |
OMIM:259710 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Joint stiffness |
ORPHA:2182 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hydrocephalus, High palate |
OMIM:269920 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Craniosynostosis |
ORPHA:1516 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia |
ORPHA:3016 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Dysphagia, Meckel diverticulum, Ventriculomegaly |
ORPHA:163961 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Myelomeningocele, Hydrocephalus, Epiphyseal stippling |
ORPHA:1914 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Craniosynostosis |
ORPHA:380 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Unilambdoid synostosis, Ventriculomegaly |
OMIM:618577 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
High, narrow palate, Hydrocephalus, Joint hyperflexibility |
ORPHA:2181 |
| Aase-Smith Syndrome I |
|
Dandy-Walker malformation, Hydrocephalus, Flexion contracture, Cleft palate |
OMIM:147800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Hydrocephalus, Flexion contracture |
OMIM:613155 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Flexion contracture, Camptodactyly of finger, Ventriculomegaly |
ORPHA:272 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Hydrocephalus, Camptodactyly of toe, Joint contracture of the hand, Ventriculom... |
OMIM:175700 |
| Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
| Triploidy |
|
Intestinal malrotation, Hydrocephalus, Meningocele, Cleft palate, Macroglossia, Holoprosencephaly... |
ORPHA:3376 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:2183 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Hydrocephalus, Carpal synostosis, Coronal craniosynostosis |
ORPHA:53271 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Delayed vertebral ossification, Delayed pubic bone ossification, Flexion contracture, Hydrocephalus |
OMIM:613330 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Hydrocephalus, Osteopetrosis, Pa... |
OMIM:259700 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Increased bone mineral density |
ORPHA:1237 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Recurrent fractures, Hydrocephalus, High palate, Lambdoidal craniosynostosis, Coronal... |
OMIM:616294 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Limitation of joint mobility, Joint hyperflexibility, Holoprosencep... |
ORPHA:93274 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Hydrocephalus, Ileus, Congenital contracture, Colpocephaly, High palate, Ven... |
OMIM:620156 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Radial dysplasia, Anal atresia |
OMIM:617244 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Midgut malrotation, High, narrow palate, Pyloric stenosis, Osteopor... |
ORPHA:2409 |
| Alexander Disease Type I |
|
Hydrocephalus, Dysphagia |
ORPHA:363717 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Intestinal malrotation, Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Ven... |
OMIM:617866 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| Temple Syndrome |
|
Hydrocephalus, Flexion contracture, Cleft palate, High palate, Bifid uvula, Joint hypermobility |
OMIM:616222 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydrocephalus, Cleft palate, Hydranencephaly, Joint contracture, Dandy-Walker m... |
OMIM:225790 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture... |
OMIM:619377 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Flexion contracture |
ORPHA:99947 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Radioulnar synostosis, Hydrocephalus, Craniosynostosis |
ORPHA:171839 |
| Myopathy, Centronuclear, X-Linked |
|
Pyloric stenosis, Hydrocephalus, Flexion contracture, High palate, Dandy-Walker malformation |
OMIM:310400 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
| Tenorio Syndrome |
|
Osteopenia, Joint laxity, Hydrocephalus, Macroglossia, Gastroesophageal reflux, Ventriculomegaly |
OMIM:616260 |
| Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Increased skull ossification, Craniofacial osteosclerosis, Hydrocephalus, Diaph... |
OMIM:618476 |
| Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
| Crouzon Syndrome |
|
Hydrocephalus, Narrow palate, Multiple suture craniosynostosis |
ORPHA:207 |
| Rhombencephalosynapsis |
|
Ventriculomegaly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fis... |
ORPHA:59315 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia |
OMIM:207950 |
| Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Ventriculomegaly, Progressive flexion contractures, Abnor... |
ORPHA:93932 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, High palate |
OMIM:300558 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Decreased skull ossification |
OMIM:300863 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Pfeiffer Syndrome Type 2 |
|
Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Limitation of joint mobility, Cleft p... |
ORPHA:93259 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Cleft palate |
OMIM:607361 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Thanatophoric Dysplasia |
|
Joint hyperflexibility, Hydrocephalus, Ventriculomegaly, Joint stiffness |
ORPHA:2655 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Microglossia, Hydrocephalus, Cleft palate |
OMIM:241800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Hydrocephalus, Gastroesophageal reflux, High palate, Joint hypermobility |
OMIM:612940 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Anorectal anomaly, Tracheoesophageal fistula, Gastroesophageal reflux, Abnormal in... |
ORPHA:1834 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Cleft palate |
ORPHA:398189 |
| Pettigrew Syndrome |
|
Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Flexion contracture, Calvarial osteoscleros... |
OMIM:304340 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Dandy-Walker malformation |
OMIM:611134 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Cleft palate |
OMIM:243440 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Limitation of joint mobility, Advanced ossification of carpal bones... |
OMIM:224400 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Emanuel Syndrome |
|
Ventriculomegaly, Intestinal malrotation, Hydrocephalus, Cleft palate, Gastroesophageal reflux, H... |
OMIM:609029 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Temple Syndrome |
|
Hydrocephalus, Bifid uvula |
ORPHA:254516 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Hydrocephalus, Cleft palate, Anteriorly placed anus, Delayed ossification ... |
OMIM:239300 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Spinal dysraphism, Holopros... |
ORPHA:1908 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Colpocephaly, Distal arthrogryposis, Gastroesophageal reflux, High palate, Ventric... |
OMIM:619833 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Joint stiffness |
ORPHA:1895 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Decreased skull ossification, Ankyloglossia |
OMIM:602361 |
| Bresek Syndrome |
|
Hydrocephalus, Aganglionic megacolon, Cleft palate |
ORPHA:85284 |
| Hogue-Janssen Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus, Joint hypermobility |
OMIM:616362 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Holoprosencephaly, Hydrocephalus, Tracheoesophageal fistula |
ORPHA:77298 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Duodenal ulcer, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, High palate, Dandy-Walker malformation, Camptodactyly |
OMIM:614846 |
| Desmosterolosis |
|
Increased bone mineral density, Intestinal malrotation, Hydrocephalus, Submucous cleft hard palat... |
ORPHA:35107 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Block vertebrae, Myelomeningocele, Hydrocephalus, Ectopic anus, ... |
OMIM:613686 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, High palate, Reduced bone mineral density |
ORPHA:2720 |
| 3C Syndrome |
|
Ventriculomegaly, Intestinal malrotation, High, narrow palate, Hydrocephalus, Cleft palate, Ectop... |
ORPHA:7 |
| Ritscher-Schinzel Syndrome 1 |
|
Anal atresia, Hydrocephalus, Dandy-Walker malformation, Cleft palate |
OMIM:220210 |
| Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Osteoporosis, Ventriculomegaly |
ORPHA:2169 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, High palate, Ventriculomegaly |
OMIM:609757 |
| Crouzon Syndrome |
|
Sagittal craniosynostosis, Hydrocephalus, High palate, Lambdoidal craniosynostosis, Coronal crani... |
OMIM:123500 |
| Apert Syndrome |
|
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Pyloric stenosis, Esophageal... |
OMIM:101200 |
| Pfeiffer Syndrome |
|
Hydrocephalus, Humeroradial synostosis, High palate, Coronal craniosynostosis, Elbow ankylosis |
OMIM:101600 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Hydrocephalus, Cleft palate, Camptodactyly, Dandy-Walker malformation |
ORPHA:459061 |
| Emanuel Syndrome |
|
Ventriculomegaly, Multiple joint contractures, Hydrocephalus, Cleft palate, Ectopic anus, Gastroe... |
ORPHA:96170 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, High palate, Intestinal malrotation, Ventriculomegaly |
ORPHA:238769 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Hydrocephalus |
ORPHA:31 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Esophageal varix, Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Macroglossia, Ventriculomegaly |
ORPHA:370959 |
| Iniencephaly |
|
Encephalocele, Anal atresia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal d... |
ORPHA:63259 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Flexion contracture, Lateral ventricle dilatation, Dilated third... |
OMIM:613154 |
| Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Ventriculomegaly, Duodenal atresia |
OMIM:300514 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Anal atresia |
OMIM:314390 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
| Griscelli Syndrome |
|
Encephalocele, Pyloric stenosis, Hydrocephalus |
ORPHA:381 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Hydrocephalus, High palate, Anal atresia, Dandy-Walker malformation |
OMIM:612582 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, High palate |
ORPHA:2180 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Knee flexion contracture |
OMIM:603387 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Bifid uvula, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Hydrocephalus, Anal atresia |
ORPHA:3301 |
| Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High palate, Spina bifi... |
ORPHA:2437 |
| Gorlin Syndrome |
|
Vertebral fusion, Hydrocephalus |
ORPHA:377 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elbow contracture, Hydrocephalus, Knee flexion contracture, Sclerosis of skull base, High palate,... |
OMIM:618162 |
| Hydrolethalus |
|
Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Bifid uvula |
ORPHA:2189 |
| Desmosterolosis |
|
Generalized osteosclerosis, Hydrocephalus, Cleft palate, Arthrogryposis multiplex congenita, Join... |
OMIM:602398 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Hydrocephalus, Osteoporosis |
ORPHA:91348 |
| Trisomy 1Q |
|
Ventriculomegaly, Camptodactyly of finger, Hydrocephalus, Cleft palate, Anal atresia |
ORPHA:261344 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Abnormal cortical bone morphology |
OMIM:614886 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Hydrocephalus, High palate, Joint hypermobility |
OMIM:618590 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hyperostosis, Hydrocephalus |
ORPHA:2969 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Hydrocephalus, High palate, Camptodactyly, Arthrogryposis multiplex congenita, ... |
OMIM:617822 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint hyperflexibility, Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
| Osteopathia Striata With Cranial Sclerosis |
|
Anal stenosis, Intestinal malrotation, Hydrocephalus, Craniofacial osteosclerosis, Spina bifida o... |
OMIM:300373 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Humeroradial synostosis, Flexion contracture, Lambdoidal craniosynostosis, Camptod... |
OMIM:207410 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Hydrocephalus, Cleft palate, Bifid uvula, Dandy-Walker malformation |
OMIM:612938 |
| Icf Syndrome |
|
Communicating hydrocephalus, Macroglossia, Malabsorption, Protruding tongue |
ORPHA:2268 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Hydrocephalus, Meningocele, Cleft palate, Sclerosis of skull base, High palate,... |
OMIM:130720 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Myelom... |
ORPHA:90652 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Achilles tendon contracture, Osteoporosis, Normal pressure hydrocephalus, High p... |
OMIM:620351 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Communicating hydrocephalus, Recurrent fractures, Subperiosteal bone formation, Gastr... |
OMIM:618188 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Craniosynostosis, Hydrocephalus, Narrow palate, Gastroesophageal reflux... |
OMIM:182212 |
| Distal Triplication 15Q |
|
Craniosynostosis, Hydrocephalus, Flexion contracture, High palate, Camptodactyly, Dandy-Walker ma... |
ORPHA:314588 |
| Apert Syndrome |
|
Esophageal atresia, Hydrocephalus, Cervical C5/C6 vertebrae fusion, Cleft palate, Narrow palate, ... |
ORPHA:87 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Mirage Syndrome |
|
Radial club hand, Hydrocephalus, Esophageal stricture, Gastroesophageal reflux, Achalasia |
OMIM:617053 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hydrocephalus, Osteopetrosis, Lateral ventricle dilatation |
OMIM:612301 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Craniosynostosis, Hydrocephalus, Cleft palate, Narrow palate, Anteriorly placed anus |
ORPHA:1555 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Delayed epiphyseal ossification, Flexion contracture, Hydrocephalus, Achalasia, Joint... |
OMIM:616007 |
| Trisomy 17P |
|
Hydrocephalus, Flexion contracture, Cleft palate, Macroglossia, High palate |
ORPHA:261290 |
| Peho Syndrome |
|
Hydrocephalus, Flexion contracture, Limitation of joint mobility, Arthrogryposis multiplex congen... |
ORPHA:2836 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Recurrent fractures, Joint hypermobility, Craniosynostosis, Hydrocephalus, Osteoporos... |
OMIM:245600 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Craniosynostosis |
ORPHA:1064 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Hydrocephalus, Submucous cleft hard palate, Anteriorly placed anus, Lateral ... |
OMIM:612863 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Aganglionic megacolon, Cleft palate |
ORPHA:220497 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, High, narrow palate, Hydrocephalus, Submucous cleft hard palate, ... |
ORPHA:2658 |
| Diabetic Embryopathy |
|
Hydrocephalus, Cleft palate, Spinal dysraphism |
ORPHA:1926 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Hydrocephalus, Cranial hyperostosis, Decreased osteoclast count, ... |
OMIM:259720 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Craniosynostosis, Hydrocephalus, Narrow palate, Anteriorly placed anus, High palate, Limited elbo... |
OMIM:123790 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Bicoronal synostosis, Hydrocephalus, Camptodactyly of finger, Joint hypermobility |
OMIM:619951 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Lateral ventricular asymmetry, Craniosynostosis, High, n... |
OMIM:616914 |
| Opitz-Kaveggia Syndrome |
|
Anal stenosis, Multiple joint contractures, Intestinal malrotation, Pyloric stenosis, Hydrocephal... |
OMIM:305450 |
| Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Cleft palate, Dandy-Walker malformation |
OMIM:614424 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Aganglionic megacolon |
ORPHA:2318 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Cleft palate, Sub... |
OMIM:619895 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Flexion contracture |
OMIM:615249 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia |
ORPHA:2839 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Arthritis, Hydrocephalus, Malabsorption |
ORPHA:3452 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly, Joint stiffness |
ORPHA:1860 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Limitation of joint mobility, Flexion contracture, Cleft palate |
ORPHA:1865 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Flexion contracture, Gastroesophageal reflux, Dilated third ventricle, Ventriculom... |
ORPHA:500055 |
| Mucopolysaccharidosis, Type Ii |
|
Intestinal pseudo-obstruction, Hydrocephalus, Flexion contracture, Macroglossia, Tracheobronchoma... |
OMIM:309900 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Intestinal malrotation, Hydrocephalus, Osteoporosis, Foot acroosteolysi... |
OMIM:102500 |
| H Syndrome |
|
Recurrent fractures, Malabsorption, Hydrocephalus, Osteolysis, Camptodactyly |
ORPHA:168569 |
| Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Aganglionic megacolon |
ORPHA:475 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Aganglionic megacolon, Cleft palate |
ORPHA:220493 |
| Achondroplasia |
|
Hydrocephalus, Knee joint hypermobility, Limited elbow extension, Hip joint hypermobility |
ORPHA:15 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, ... |
ORPHA:3412 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hydrocephalus |
OMIM:601499 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Rectal abscess |
OMIM:600145 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
| Walker-Warburg Syndrome |
|
Ventriculomegaly, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Bifid uvula, Dandy-Wa... |
ORPHA:899 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Tracheoesophageal fistula, Rectovaginal fistula, Cervical C2/C3 vert... |
ORPHA:1780 |
| Primary Ciliary Dyskinesia |
|
Hydrocephalus, Intestinal malrotation, Ventriculomegaly |
ORPHA:244 |
| Dextrocardia |
|
Hydrocephalus, Meckel diverticulum, Intestinal malrotation |
ORPHA:1666 |
| Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Hydrocephalus, Cleft palate, Duodenal atresia |
OMIM:243605 |
| Sturge-Weber Syndrome |
|
Hyperostosis, Hydrocephalus, Dysphagia |
ORPHA:3205 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Cleft palate, Macroglossia, Congenital contracture, Ventriculomegaly |
OMIM:613150 |
| Hurler Syndrome |
|
Joint stiffness, Hydrocephalus, Flexion contracture, Cranial hyperostosis, Macroglossia, Calvaria... |
OMIM:607014 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
| 15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Joint hypermobility, Cranios... |
ORPHA:314585 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Communicating hydrocephalus, Camptodactyly of finger, Craniosynostosis, Joint stiffne... |
ORPHA:2462 |
| Raine Syndrome |
|
Increased bone mineral density, Protruding tongue, Hydrocephalus, Cleft palate, Subperiosteal bon... |
OMIM:259775 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Esophageal varix, Hydrocephalus |
ORPHA:974 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Craniosynostosis, Hydrocephalus, Cleft palate, Narrow palate, Hi... |
OMIM:605627 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Joint laxity, Spina bifida, High, narrow palate, Hydrocephalus, Elbow flexion contracture, Knee f... |
OMIM:613776 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, High palate, Ventriculomegaly |
OMIM:614969 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Ventriculomegaly, Recurrent fractures,... |
ORPHA:355 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
| Alexander Disease |
|
Osteopenia, Aqueductal stenosis, Hydrocephalus, High palate, Dysphagia |
ORPHA:58 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Anal atresia, Median cleft lip and palate |
OMIM:264480 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Hydrocephalus, Os... |
ORPHA:536467 |
| Dubowitz Syndrome |
|
Anal stenosis, Craniosynostosis, Malabsorption, Rectal prolapse, Submucous cleft hard palate, Hyd... |
ORPHA:235 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Recurrent fractures, Intestinal malrotation, Hydrocephalus, Osteoporosis, Osteolysis,... |
ORPHA:955 |
| Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Hydrocephalus, Submucous cleft hard palate, ... |
OMIM:115150 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Malabsorption, Joint stiffness, Hydrocephalus, Flexion contracture, Re... |
ORPHA:581 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Calvarial hyperostosis, Epiphyseal stippling, Hydrocephalus, Neonatal epiphyseal stippling |
OMIM:101800 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Irregular ossificati... |
OMIM:109400 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Cleft palate, Con... |
OMIM:236670 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:612284 |
| Cousin Syndrome |
|
Hydrocephalus, Humeroradial synostosis, Cleft palate, Camptodactyly, Hydranencephaly, Microglossi... |
OMIM:260660 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Ventriculomegaly, Cleft palate |
ORPHA:1812 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Joint stiffness |
ORPHA:585 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Flexion contracture, Holoprosencephaly |
OMIM:253800 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Aganglionic megacolon, Ventriculomegaly |
OMIM:613603 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Hydrocephalus, Cleft palate, Holoprosencephaly, Anal atresia |
ORPHA:2166 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Cleft palate, Anteriorly placed anus, Colpocephaly, Colonic atresia, Anal atresia |
OMIM:309801 |
| Mohr Syndrome |
|
Hydrocephalus, Cleft palate, Tongue nodules, Lobulated tongue, High palate, Bifid tongue |
OMIM:252100 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus, Cleft palate, Dandy-Walker malformation, Duodenal atresia |
OMIM:257300 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus, Cleft palate |
ORPHA:2075 |
| Mucopolysaccharidosis, Type Vii |
|
Joint stiffness, Hydrocephalus, Flexion contracture, Limitation of joint mobility, Macroglossia |
OMIM:253220 |
| Knobloch Syndrome |
|
Pyloric stenosis, Occipital encephalocele, Hydrocephalus, Joint hyperflexibility |
ORPHA:1571 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Joint hyperflexibility, Recurrent fractures |
ORPHA:2050 |
| Congenital Sialidosis Type 2 |
|
Hydrocephalus, Protruding tongue |
ORPHA:93400 |
| Tetrasomy 5P |
|
Hydrocephalus, High palate |
ORPHA:3309 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Dilated third ven... |
OMIM:619575 |
| Short-Rib Thoracic Dysplasia 12 |
|
Intestinal malrotation, Hamartoma of tongue, Hydrocephalus, Anencephaly, Lobulated tongue, Holopr... |
OMIM:269860 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Tarsal synostosis, Craniosynostosis, High, narrow palate, Hydrocephalus, Flexion contracture, Elb... |
ORPHA:95699 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Marshall-Smith Syndrome |
|
Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, Craniosynostosi... |
OMIM:602535 |
| Mucopolysaccharidosis Type 1 |
|
Hydrocephalus, Joint stiffness, Malabsorption |
ORPHA:579 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
| Hypoplasminogenemia |
|
Hydrocephalus, Duodenal ulcer, Dandy-Walker malformation |
ORPHA:722 |
| Osteogenesis Imperfecta |
|
Osteopenia, Intestinal obstruction, Ventriculomegaly, Recurrent fractures, Fractures of the long ... |
ORPHA:666 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Communicating hydrocephalus, Craniosynostosis, Joint stiffness, Cranial... |
ORPHA:309282 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus, Gastroesophageal reflux |
OMIM:616482 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, High palate |
OMIM:608091 |
| Achondroplasia |
|
Generalized joint laxity, Limited elbow extension, Limited hip extension, Hydrocephalus |
OMIM:100800 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Occipital meningocele, Ventriculom... |
OMIM:616546 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus, Limitation of joint mobility, Tarsal synostosis |
ORPHA:2378 |
| Rabin-Pappas Syndrome |
|
Tracheomalacia, Hydrocephalus |
OMIM:620155 |
| Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly, Cleft palate |
ORPHA:1335 |
| Fanconi Anemia |
|
Ventriculomegaly, Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Hydroceph... |
ORPHA:84 |
| Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
| Aymé-Gripp Syndrome |
|
Craniosynostosis, Hydrocephalus, Limitation of joint mobility, Cleft palate, Radioulnar synostosi... |
ORPHA:1272 |
| Medulloblastoma |
|
Hydrocephalus, Adenomatous colonic polyposis |
ORPHA:616 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Lateral ventricle dilatation, Normal pressure hydrocephalus, High palate |
ORPHA:300570 |
| Lhermitte-Duclos Disease |
|
Macroglossia, Hydrocephalus |
ORPHA:65285 |
| Holoprosencephaly 7 |
|
Bilateral cleft palate, Alobar holoprosencephaly, Hydrocephalus, Cleft palate, Lobar holoprosence... |
OMIM:610828 |
| Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Anal atresia |
OMIM:614083 |
| Holoprosencephaly |
|
Encephalocele, Hydrocephalus, Spinal dysraphism, Joint hyperflexibility, Intestinal atresia, Gast... |
ORPHA:2162 |
| Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Hydrocephalus, Tracheoesophageal fistula |
ORPHA:268249 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Coccidioidomycosis |
|
Osteomyelitis, CSF pleocytosis, Hydrocephalus, Osteolysis, CSF lymphocytic pleiocytosis, Arthriti... |
ORPHA:228123 |
| Oeis Complex |
|
Intestinal malrotation, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, Rectovaginal fis... |
OMIM:258040 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules, Dysphagia |
ORPHA:25 |
| 1Q21.1 Microdeletion Syndrome |
|
Joint hyperflexibility, Hydrocephalus, Ankyloglossia, High palate |
ORPHA:250989 |
| Marden-Walker Syndrome |
|
Camptodactyly of finger, Joint stiffness, Pyloric stenosis, Hydrocephalus, Submucous cleft hard p... |
ORPHA:2461 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Monosomy 18Q |
|
Hydrocephalus, High palate, Joint hypermobility |
ORPHA:1600 |
| 47,Xyy Syndrome |
|
Hydrocephalus |
ORPHA:8 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Cleft palate |
OMIM:313850 |
| Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Holoprosencephaly, Median cleft palate, Ventriculomegaly |
OMIM:612651 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Hydrocephalus, Reduced bone mineral density, Osteopetrosis |
ORPHA:667 |
| 7Q11.23 Microduplication Syndrome |
|
Ventriculomegaly, Craniosynostosis, Hydrocephalus, High palate, Tracheomalacia, Joint hypermobility |
ORPHA:96121 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
| Jacobsen Syndrome |
|
Pyloric stenosis, Hydrocephalus, Flexion contracture, Holoprosencephaly |
OMIM:147791 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
| Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Hydrocephalus, Submucous cleft hard palate, Functional... |
ORPHA:1340 |
| Joubert Syndrome With Hepatic Defect |
|
Neoplasm of the liver, Occipital encephalocele, Hydrocephalus |
ORPHA:1454 |
| Baller-Gerold Syndrome |
|
Bicoronal synostosis, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Hydroc... |
OMIM:218600 |
| Campomelic Dysplasia |
|
Joint laxity, Poorly ossified cervical vertebrae, Absent sternal ossification, Spina bifida, Cont... |
OMIM:114290 |
| Hurler Syndrome |
|
Macroglossia, Hydrocephalus, Limitation of joint mobility, Camptodactyly of finger |
ORPHA:93473 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Spina bifida, Hydroce... |
ORPHA:567 |
| Neurooculorenal Syndrome |
|
Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Anteriorly placed anus, Ventriculomegaly |
OMIM:620305 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Camptodactyly of finger, Int... |
OMIM:249000 |
| Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Hy... |
OMIM:270400 |
| Cryptococcosis |
|
Hydrocephalus, Osteomyelitis, Osteolysis |
ORPHA:1546 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Aqueductal stenosis, Velopharyngeal insufficiency, Hydrocephalus, Cleft pa... |
OMIM:154400 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, High palate |
OMIM:104350 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Joint stiffness, Hydrocephalus, Flexion contracture, Macroglossia, Recurrent gastroenteritis |
ORPHA:505248 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Hydrocephalus, Flexion contracture, Bone cyst, Osteolysis |
ORPHA:3042 |
| Pseudoaminopterin Syndrome |
|
Sagittal craniosynostosis, Limited elbow movement, Hydrocephalus, High palate, Patchy reduction o... |
ORPHA:221120 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
High, narrow palate, Hydrocephalus, Ventriculomegaly |
ORPHA:228308 |
| Trisomy 8P |
|
Multiple joint contractures, Hydrocephalus, Malrotation of small bowel, Cleft palate, Bifid uvula... |
ORPHA:264450 |
| Loeys-Dietz Syndrome 1 |
|
Joint laxity, Eosinophilic infiltration of the esophagus, Craniosynostosis, Hydrocephalus, Cleft ... |
OMIM:609192 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Elbow contracture, Camptodactyly of finger, High, narrow palate, Hydrocephalus, ... |
OMIM:208150 |
| Mucopolysaccharidosis, Type Vi |
|
Joint stiffness, Hydrocephalus, Flexion contracture, Macroglossia, Cervical myelopathy |
OMIM:253200 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus, Gastroesophageal reflux, Cleft palate |
ORPHA:2306 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Arthrogryposis multiplex congenita, Hydrocephalus, High palate |
OMIM:619512 |
| Monosomy 9Q22.3 |
|
Joint hyperflexibility, Hydrocephalus, Ventriculomegaly |
ORPHA:77301 |
| Orofaciodigital Syndrome I |
|
Hamartoma of tongue, Myelomeningocele, Hydrocephalus, Cleft palate, Tongue nodules, Lobulated ton... |
OMIM:311200 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Block vertebrae, Posteriorly placed anus, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, A... |
OMIM:306955 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis... |
ORPHA:109 |
| Microphthalmia With Limb Anomalies |
|
Tarsal synostosis, Hydrocephalus, Cleft palate, Joint hyperflexibility, Camptodactyly of 2nd-5th ... |
ORPHA:1106 |
| Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Cleft palate, Abnormal... |
ORPHA:2369 |
| Kabuki Syndrome 1 |
|
Anal stenosis, Intestinal malrotation, Joint hypermobility, Malabsorption, Hydrocephalus, Cleft p... |
OMIM:147920 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Hydrocephalus, Flexion contracture, Cleft soft palate |
OMIM:619321 |
| Meckel Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Anencephaly, Cleft palate, Furrow... |
ORPHA:564 |
| Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula |
OMIM:227646 |
| Semilobar Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Cleft palate, Neural tube defect, Gastroesophageal reflux, Hi... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Cleft palate, Neural tube defect, Gastroesophageal reflux, Hi... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Cleft palate, Neural tube defect, Gastroesophageal reflux, Hi... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Cleft palate, Neural tube defect, Gastroesophageal reflux, Hi... |
ORPHA:93924 |
| Kabuki Syndrome |
|
Hydrocephalus, Cleft palate, Joint hyperflexibility, High palate, Ventriculomegaly |
ORPHA:2322 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Camptodactyly of finger, Hydrocephalus, Macroglossia, High palate, Camptodactyly of toe, Anal atr... |
ORPHA:261337 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Ventriculomegaly, Joint hypermobility |
ORPHA:457284 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Ventriculomegaly, Craniosynostosis, Spina bifida, Hydrocephalus, Tracheomalacia, Jo... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Ventriculomegaly, Craniosynostosis, Spina bifida, Hydrocephalus, Tracheomalacia, Jo... |
ORPHA:363958 |
| Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Pyloric stenosis, Achilles tendo... |
OMIM:218040 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, High palate, Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
| Loeys-Dietz Syndrome 2 |
|
Joint laxity, Eosinophilic infiltration of the esophagus, Craniosynostosis, Hydrocephalus, Osteop... |
OMIM:610168 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus |
ORPHA:157 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Delayed epiphyseal ossification, Flexion contractu... |
OMIM:210710 |
| Craniopharyngioma |
|
Hydrocephalus, Increased susceptibility to fractures |
ORPHA:54595 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Hydrocephalus, Malrotation of small bowel, Cleft palate, Abnormal sternal ossif... |
OMIM:194190 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Hydrocephalus, Cleft palate |
ORPHA:163979 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Osteomyelitis, High, narrow palate, Short uvula, Hydrocephalus, High palate, Ankylo... |
OMIM:619475 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Hydrocephalus, Tracheoesophageal fistula, Gastroesophageal ... |
OMIM:107480 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
| Mend Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, High palate, Cleft palate |
ORPHA:401973 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Glossitis |
ORPHA:79282 |
| Fontaine Progeroid Syndrome |
|
Craniosynostosis, Protruding tongue, High, narrow palate, Hydrocephalus, Anteriorly placed anus, ... |
OMIM:612289 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Limitation of joint mobility, Abnormal epiphyseal ossification, Macr... |
ORPHA:580 |
| Holoprosencephaly 9 |
|
Hydrocephalus, Cleft palate, Bilateral cleft lip and palate, Holoprosencephaly, Short hard palate |
OMIM:610829 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Communicating hydrocephalus, Limitation of joint mobility, High palate, Ventriculom... |
ORPHA:457359 |
| Mend Syndrome |
|
Hydrocephalus, High palate, Dandy-Walker malformation |
OMIM:300960 |
| Yunis-Varon Syndrome |
|
Absent sternal ossification, High, narrow palate, Pyloric stenosis, Hydrocephalus, Glossoptosis, ... |
ORPHA:3472 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hydrocephalus, Gastric ulcer, Esophageal varix, Ventriculomegaly |
ORPHA:2072 |
| Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Myelomeningocele, Hydrocephalus, Cleft palate... |
OMIM:219000 |
| Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
| Cockayne Syndrome B |
|
Limitation of joint mobility, Osteoporosis, Normal pressure hydrocephalus, Ivory epiphyses of the... |
OMIM:133540 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Dysphagia |
ORPHA:637 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
| Tetraamelia Syndrome 1 |
|
Anal atresia, Hydrocephalus, Cleft palate |
OMIM:273395 |
| Cockayne Syndrome A |
|
Hip contracture, Limitation of joint mobility, Ivory epiphyses of the phalanges of the hand, Norm... |
OMIM:216400 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hydrocephalus |
OMIM:261740 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Cleft palate |
ORPHA:137675 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus |
OMIM:616084 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Focal Dermal Hypoplasia |
|
Joint laxity, Intestinal malrotation, Hiatus hernia, Hydrocephalus, Myelomeningocele, Cleft palat... |
OMIM:305600 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Abnormal rectum morphology, Abnormality of the anus |
ORPHA:2556 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus, Bone cyst, High palate, Joint hypermobility |
ORPHA:363700 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Hydrocephalus |
ORPHA:538 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
| Neurofibromatosis Type 1 |
|
Neoplasm of the gastrointestinal tract, Hydrocephalus, Recurrent fractures, Joint stiffness |
ORPHA:636 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Hydrocephalus, Submucous cleft hard palate, Lateral ventricle dilatation... |
OMIM:607872 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Intestinal malrotation, Hydrocephalus, Cleft palate, Narrow pal... |
OMIM:312870 |
| Tetrasomy 9P |
|
Hydrocephalus, Cleft palate, Arthritis, High palate, Bifid uvula, Dandy-Walker malformation, Medi... |
ORPHA:3310 |
| Otopalatodigital Syndrome, Type Ii |
|
Elbow contracture, Spina bifida, Hydrocephalus, Cleft palate, Sclerosis of skull base, Nonossifie... |
OMIM:304120 |
| Coffin-Siris Syndrome 12 |
|
Joint laxity, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Noncommu... |
OMIM:619325 |
| Meningioma |
|
Hydrocephalus, Neoplasm of the tongue |
ORPHA:2495 |
| Peters Plus Syndrome |
|
Intestinal fistula, Hydrocephalus, Cleft palate, Anal atresia, Spina bifida occulta, Ventriculome... |
ORPHA:709 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Hydrocephalus, Anal atresia |
ORPHA:322 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Aqueductal stenosis, Hydrocephalus, Esophageal varix, Lateral ventricle dilatation, G... |
OMIM:619534 |
| Peters-Plus Syndrome |
|
Joint laxity, Craniosynostosis, Limited elbow movement, Hydrocephalus, Cleft palate, Anteriorly p... |
OMIM:261540 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Camptodactyly of finger, Hydrocephalus, Synovitis, Submucous cleft soft palate, Joint... |
ORPHA:3455 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Flexion contracture, Dandy-Walker malformation, Dysphagia |
OMIM:264090 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mild fetal ventriculomegaly, Ankyloglossia, Joint hypermobility |
OMIM:619841 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
| Roberts-Sc Phocomelia Syndrome |
|
Ankle flexion contracture, Craniosynostosis, Hydrocephalus, Frontal encephalocele, Elbow flexion ... |
OMIM:268300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
| Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
| Hydrolethalus Syndrome 1 |
|
Dandy-Walker malformation, Anencephaly, Cleft palate, Severe hydrocephalus |
OMIM:236680 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Block vertebrae, Cleft palate |
OMIM:164210 |
| Split-Hand/Foot Malformation 6 |
|
|
OMIM:225300 |
| Tooth Agenesis, Selective, 8 |
|
|
OMIM:617073 |
| Oligodontia |
|
|
ORPHA:99798 |
| Isolated Split Hand-Split Foot Malformation |
|
|
ORPHA:2440 |
