| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Neonatal death, Microphthalmia |
OMIM:615524 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia |
OMIM:613885 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia, Dandy-Walker malformation |
OMIM:164180 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Hydrocephalus, Growth delay, Holoprosencephaly, Micropht... |
ORPHA:77298 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Atrial septal defect, Ventricular septal defect, Hydrocephalus, Meningocele, Anenc... |
OMIM:611134 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
| 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, Rhizomelia |
OMIM:166990 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Hydrocephalus, Microphthalmia, Ventriculomegaly, Intrauterine growth retardation |
ORPHA:858 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Abnormal heart morphology, Colpocephaly, Macular hypoplasia, Ventriculomegaly |
ORPHA:2185 |
| Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, In... |
ORPHA:3378 |
| Hydrolethalus |
|
Microphthalmia, Hydrocephalus, Anophthalmia, Anencephaly |
ORPHA:2189 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
| Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Anophthalmia, Ventricular septal defect, Short stature, Severe short statur... |
OMIM:601186 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida |
ORPHA:1104 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Tetralogy of Fallot |
ORPHA:250994 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Short stature, Delayed puberty |
ORPHA:141333 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... |
ORPHA:1908 |
| Trisomy 1Q |
|
Hydrocephalus, Anophthalmia, Ventricular septal defect, Ventriculomegaly |
ORPHA:261344 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
| Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
| Masa Syndrome |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:303350 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:602501 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... |
OMIM:220210 |
| Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Short stature, Holoprosencephaly |
OMIM:147250 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1532 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Microphthalmia, Intrauterine grow... |
ORPHA:3412 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
| Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Myelomeningocele, Aplasia/Hypoplasia affecting the eye, Hydrocep... |
ORPHA:1914 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Growth delay, Neonatal death, Microphthalmia, Intrauterine... |
ORPHA:85284 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Intrauterine growth retardation, Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Hydrocephalus, Microphthalmia, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:899 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Hydrocephalus, Cardiomyopathy |
OMIM:613155 |
| Aicardi-Goutieres Syndrome 4 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia, Delayed eruption of primary teeth |
ORPHA:90322 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Tetralogy of Fallot, Spinal dysraphism, Transposition o... |
ORPHA:1926 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short stature, Mitral valve prolapse |
ORPHA:2183 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Left ventricular hypertrophy, Microphthalmia, Dandy-Walker malformation, Ventricul... |
OMIM:613153 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Holoprosencephaly |
|
Encephalocele, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Hydr... |
ORPHA:2162 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... |
OMIM:616034 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Hydrocephalus, Short stature |
ORPHA:1516 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Ventriculom... |
ORPHA:93274 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth, Abnormal heart morphology |
OMIM:276950 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Triploidy |
|
Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, Intrauterine g... |
ORPHA:3376 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Anophthalmia, Optic nerve hypoplasia, Postnatal growth retardati... |
OMIM:605627 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Microphthalmia With Limb Anomalies |
|
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation |
OMIM:206920 |
| Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus, Ventriculomegaly, Abnormal heart morphology |
OMIM:175700 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Microphthalmia, Intrauterine growth retardation |
OMIM:300863 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Cardiomegaly |
OMIM:300886 |
| Meckel Syndrome |
|
Encephalocele, Anophthalmia, Situs inversus totalis, Hydrocephalus, Anencephaly, Lobar holoprosen... |
ORPHA:564 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Disproportionate short-limb short stature, Atrial septal defect, Intrauterine grow... |
ORPHA:2655 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia |
ORPHA:2470 |
| Fibular Hemimelia |
|
Anophthalmia, Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Cardiom... |
ORPHA:370959 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Short stature |
OMIM:618174 |
| Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay, Microphthalmi... |
OMIM:614424 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Abnormally large globe, Hydrocephalus, Atrial septal defect, Ventricul... |
OMIM:603387 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Short stature, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
| 3C Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morphology, Short stature, Pos... |
ORPHA:7 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Hydrocephalus, Umbilical hernia, Hypertrophic cardiomyopathy, Dandy-Wa... |
OMIM:612938 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Short stature, Ventricular septal defect, Ventriculomegaly |
OMIM:218350 |
| Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:380 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Hydrocephalus, Microphthalmia, Intrauterine growth retardation |
ORPHA:163966 |
| Emanuel Syndrome |
|
Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Delayed eruption of primary teet... |
OMIM:609029 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... |
OMIM:264480 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
| Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Cardiomegaly |
OMIM:269920 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Short statu... |
OMIM:206900 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Short stature, Ventricular septal defect, Ventriculomegaly |
OMIM:615630 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Optic disc hypoplasia, Hydrocephalus, Growth delay, Intrauterine growt... |
OMIM:300514 |
| Tetrasomy 15Q26 |
|
Atrial septal defect, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
| 1Q44 Microdeletion Syndrome |
|
Short stature, Optic disc hypoplasia, Hydrocephalus, Growth delay, Abnormal cardiac septum morpho... |
ORPHA:238769 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, G... |
OMIM:612863 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker malformation, Ventr... |
OMIM:225790 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Hydrocephalus, Growth delay, Atrial septal defect, Intrauterine growth... |
OMIM:614576 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
| Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Short stature, Aqueductal stenosis, Postnatal growth ret... |
ORPHA:138 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Umbilical hernia, Anophthalmia, Tricuspid valve prolapse |
ORPHA:1101 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Short stature |
OMIM:241800 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Hypoplasia of the iris, Subvalvular aortic stenosis, At... |
OMIM:613001 |
| Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Anophthalmia, Ventricular septal defect, Dextrocardia, Short stature, ... |
OMIM:300166 |
| Emanuel Syndrome |
|
Delayed eruption of teeth, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Hydro... |
ORPHA:96170 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:2181 |
| Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Anencep... |
ORPHA:1335 |
| Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Anophthalmia, Delayed eruption of primary teeth |
ORPHA:90321 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Short stature |
OMIM:300558 |
| Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Severe short stature, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse,... |
ORPHA:2556 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Macular hypoplasia, Atrial septal defec... |
OMIM:615219 |
| Temple Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
ORPHA:254516 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia affecting the eye |
ORPHA:1895 |
| Temple Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Short stature |
OMIM:616222 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Short stature, Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Umbilical hernia, Tetralogy of Fa... |
OMIM:612582 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:171839 |
| Familial Renal Glucosuria |
|
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria |
ORPHA:69076 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
ORPHA:2437 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Hydrocephalus, Holoprosencephaly, Microphtha... |
OMIM:610829 |
| Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... |
ORPHA:552 |
| Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Myelomeningocele, Bilateral microphthalmos, Hydrocephalus, Abnormal ... |
OMIM:219000 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Trisomy 17P |
|
Short stature, Hydrocephalus, Growth delay, Hypoplastic left heart, Intrauterine growth retardati... |
ORPHA:261290 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Short stature, Dextrocardia, Situs inversus totalis, Hydrocephalus, Myelomeningocele, Spina bifid... |
OMIM:613686 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hypoplasia of the iris, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
| Optic Pathway Glioma |
|
Growth delay, Hydrocephalus |
ORPHA:2086 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Transposition of the great arteries, Neonatal death, Atrioventricula... |
OMIM:314390 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
| Metatropic Dysplasia |
|
Hydrocephalus, Severe short stature |
ORPHA:2635 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Ventriculomegaly |
OMIM:619833 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Bilateral micro... |
ORPHA:2839 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle morphology, Hydro... |
ORPHA:2306 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Short stature, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Dandy-Walker malformation |
ORPHA:459061 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Adams-Oliver Syndrome |
|
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Microphthalmia, Tetralogy of F... |
ORPHA:974 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Hydrocephalus, Growth delay, Intrauterine growth retardation, ... |
ORPHA:2409 |
| Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
| Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hydrocephalus, Anoma... |
ORPHA:244 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Growth delay, Atrial septal defect, Microphthalmia, Truncus arteriosus |
ORPHA:2538 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Holoprosencephaly, Microphthalmi... |
ORPHA:141099 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:609757 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Hydrocephalus, Growth delay, Atrial septal defect, Double outlet right ventricle |
OMIM:614886 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Short stature, Ventriculomegaly |
ORPHA:264200 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Umbilical hernia, Hydrocephalus, Abnormal heart morphology |
ORPHA:93400 |
| Genitopalatocardiac Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Abnormal cardiac septum morphology |
ORPHA:2075 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Ventricular septal defect, Hydrocephalus, Anencephaly, Holoprosencephaly, Neonatal d... |
OMIM:269860 |
| Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Hydrocephalus |
ORPHA:163596 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Umbilical hernia, Hydrocephalus, Abnormal heart morphology |
OMIM:601499 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Hydrocephalus, Abnormally large globe |
OMIM:615249 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... |
OMIM:619895 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia |
OMIM:615877 |
| Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Short stature |
ORPHA:381 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Microphthalmia, Severe short stature, Anophthalmia |
ORPHA:2526 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Severe short stature, Abnormal heart valve morphology, Short stature, ... |
OMIM:309900 |
| Charge Syndrome |
|
Anophthalmia, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Postnat... |
OMIM:214800 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Hydrocephalus, Meningocele, Umbi... |
OMIM:130720 |
| Fanconi Anemia, Complementation Group R |
|
Growth delay, Microphthalmia, Hydrocephalus |
OMIM:617244 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Disproportionate short-trunk short stature |
OMIM:613330 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
| Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Anophthalmia, Short stature, Myelomeningocele, Hydrocephalus, Aniridia... |
OMIM:305600 |
| Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Hydrocephalus, Short stature |
OMIM:602361 |
| Distal Triplication 15Q |
|
Hydrocephalus, Abnormal heart morphology, Atrial septal defect, Intrauterine growth retardation, ... |
ORPHA:314588 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb sho... |
OMIM:187600 |
| Fg Syndrome Type 1 |
|
Short stature, Optic nerve hypoplasia, Hydrocephalus, Mitral valve prolapse, Atrial septal defect... |
ORPHA:93932 |
| Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly |
ORPHA:1860 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Severe short stature, Abnormal heart morphology |
ORPHA:1865 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:219730 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:1946 |
| Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Situs inversus totalis |
ORPHA:475 |
| Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Atrial septal de... |
OMIM:147791 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Buphthalmos, Microphthalmia, Ventriculomegaly |
OMIM:613150 |
| 1Q21.1 Microdeletion Syndrome |
|
Short stature, Hydrocephalus, Abnormal cardiac septum morphology, Microphthalmia, Intrauterine gr... |
ORPHA:250989 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Optic nerve hypoplasia |
OMIM:620157 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Dextrocardia |
ORPHA:220493 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Failure of eruption of permanent teeth |
ORPHA:2250 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Dandy-Wal... |
OMIM:614643 |
| Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2119 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Short stature, Postnatal growth retardation, Hydrocephalus, Pulmonic stenosis, ... |
OMIM:257300 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Abnormally large globe, Hydroceph... |
OMIM:245600 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Short stature |
ORPHA:53 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Abnormal cardiac septum morphology, Holoprosencephaly, Microphthalm... |
ORPHA:2166 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Abnormal heart morphology, Hydrocephalus, Abnormally large globe |
OMIM:239300 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology |
ORPHA:398124 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Ectopia cordis, Anencephaly, Transposition of the great arteries |
OMIM:313850 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Short stature, Hydrocephalus, Colpocephaly, Atrial s... |
OMIM:309801 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Growth delay, Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
| B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Neonatal short-limb short stature, Severe short stature |
OMIM:224400 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Transposition of the great arteries, Intr... |
ORPHA:1780 |
| Desmosterolosis |
|
Severe short stature, Hydrocephalus, Anomalous pulmonary venous return, Growth delay, Intrauterin... |
ORPHA:35107 |
| Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617822 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Lateral ventricular asymmetry, Mitral valve prolapse |
OMIM:616914 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Short stature, Secundum atrial septal defect, Hydrocephalus, Grow... |
ORPHA:1600 |
| Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Microphthalmia, Umbilical hernia |
ORPHA:2052 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Intrauterine growth retardation, Hydrocephalus |
OMIM:612940 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Abnormal heart valve morphology, Short stature, Postnatal growth retardatio... |
OMIM:253220 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Hydrocephalus, Cardiac fibroma, Umbilical hernia, Microphthalmia, Vent... |
ORPHA:77301 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Hydrocephalus, Disproportionate short stature, Neonatal death |
OMIM:616482 |
| Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Enlarged fossa interpeduncularis |
OMIM:608091 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Meningoencephalocele, Hydrocep... |
OMIM:236670 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele, Ventriculomegaly |
OMIM:616546 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Hydrocephalus, Short stature, True anophthalmia |
ORPHA:1106 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Intrauterine growth retardation, Short stature, Delayed eruption of ... |
ORPHA:2050 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Mitral stenosis |
OMIM:231005 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:2318 |
| Cole-Carpenter Syndrome 2 |
|
Postnatal growth retardation, Hydrocephalus, Short stature |
OMIM:616294 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220497 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Short stature |
OMIM:112240 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Short stature, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
| Hurler Syndrome |
|
Short stature, Hydrocephalus, Cardiomyopathy, Endocardial fibroelastosis, Umbilical hernia |
OMIM:607014 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Hydrocephalus, Branchial anomal... |
OMIM:164210 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Abnormal cardiac... |
ORPHA:90652 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Short stature, Communicating hydrocephalus |
ORPHA:1064 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Hydrocephalus |
OMIM:619951 |
| Stromme Syndrome |
|
Microphthalmia, Hydrocephalus, Stillbirth, Optic nerve hypoplasia |
OMIM:243605 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Microphthalmia |
OMIM:109400 |
| Cousin Syndrome |
|
Rhizomelia, Hydrocephalus, Disproportionate short stature, Hydranencephaly, Microphthalmia |
OMIM:260660 |
| Dextrocardia |
|
Situs inversus totalis, Hydrocephalus, Dextrocardia, Abnormal heart morphology |
ORPHA:1666 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Natal tooth, Large placenta,... |
OMIM:249000 |
| Rhombencephalosynapsis |
|
Septo-optic dysplasia, Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
| Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Short stature, Hydrocephalus, Disproportionate short-trunk short statu... |
OMIM:253200 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mild postnatal growth retardation, Short stature, Hydrocephalus, Dispr... |
OMIM:101800 |
| Oxoglutaric Aciduria |
|
Hydrocephalus, Short stature |
ORPHA:31 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Hydrocephalus, Mitral valve prolapse |
OMIM:104350 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Hydrocephalus |
ORPHA:3301 |
| Fanconi Anemia |
|
Atrial septal defect, Short stature, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the iris,... |
ORPHA:84 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1861 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrocephalus, Ventricular septal defect |
ORPHA:268249 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Stillbirth, Sever... |
OMIM:236680 |
| Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Short stature, Hydrocephalus, Abnormal aortic valve morphology, ... |
ORPHA:579 |
| Hurler Syndrome |
|
Abnormal heart valve morphology, Short stature, Hydrocephalus, Growth delay, Cardiomyopathy, Endo... |
ORPHA:93473 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Persistence of primary teeth |
OMIM:259710 |
| Marden-Walker Syndrome |
|
Severe short stature, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Hydrocepha... |
ORPHA:2461 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Achondroplasia |
|
Hydrocephalus, Disproportionate short stature, Rhizomelia |
ORPHA:15 |
| Mend Syndrome |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Microphthalmia, Aortic valve stenosis, D... |
ORPHA:401973 |
| Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Short stature |
ORPHA:1834 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Short stature, Hydrocephalus, Pulmonic stenosis, Atrial septal d... |
ORPHA:1340 |
| Mirage Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Short stature |
OMIM:617053 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Dilated third ventricle, Short stature, Ventriculomegaly |
ORPHA:500055 |
| Holoprosencephaly 7 |
|
Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar h... |
OMIM:610828 |
| 22Q11.2 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifid... |
ORPHA:567 |
| Cerebral Visual Impairment |
|
Hydrocephalus, Optic nerve hypoplasia |
ORPHA:447788 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Ventricular septal defect, Hydrocephalus, Lateral ventricle dilatation, Dilated th... |
OMIM:619575 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Short stature, Hydrocephalus, Growth delay, Stillbirth, Ventriculomegaly |
OMIM:259720 |
| Whipple Disease |
|
Myocarditis, Pericarditis, Hydrocephalus |
ORPHA:3452 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt... |
OMIM:113620 |
| Congenital Myopathy 22A, Classic |
|
Neonatal death, Normal pressure hydrocephalus |
OMIM:620351 |
| Cardiofaciocutaneous Syndrome 1 |
|
Short stature, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:115150 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Ventriculomegaly |
ORPHA:228308 |
| Icf Syndrome |
|
Communicating hydrocephalus, Umbilical hernia, Short stature |
ORPHA:2268 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| Tetrasomy 5P |
|
Postnatal growth retardation, Hydrocephalus |
ORPHA:3309 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614969 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
| Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Ventricular septal defect, Short stature, Hydrocephalus, Atrial septal defect, Spina... |
OMIM:300373 |
| Apert Syndrome |
|
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Hydrocephalus, Rhizomelic... |
OMIM:101200 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus, Dextrocardia |
ORPHA:1571 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Hydrocephalus |
OMIM:207410 |
| 7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Short stature, Hydrocephalus, Growth delay, Atrial septal defect, Aort... |
ORPHA:96121 |
| Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Intrauterine growth retardation, Hydrocephalus, Growth delay |
OMIM:614083 |
| Neurooculorenal Syndrome |
|
Dextrocardia, Aqueductal stenosis, Postnatal growth retardation, Hydrocephalus, Mitral valve prol... |
OMIM:620305 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Microphthalmia, Congenital aphakia |
ORPHA:137675 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Short stature, Hydrocephalus, Atrial septal de... |
OMIM:602535 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:1555 |
| Tenorio Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
| Opitz-Kaveggia Syndrome |
|
Umbilical hernia, Hydrocephalus, Short stature, Abnormal heart morphology |
OMIM:305450 |
| Rabin-Pappas Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia |
OMIM:620155 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Short stature |
ORPHA:585 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Hydrocephalus, Rhizomelia |
OMIM:618162 |
| Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
| Desmosterolosis |
|
Hydrocephalus, Rhizomelia, Total anomalous pulmonary venous return, Ventriculomegaly |
OMIM:602398 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology, Growth delay, Intrauterine grow... |
ORPHA:79282 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Short stature, Postnatal growth retardation, Hydrocephalus, Intrauteri... |
ORPHA:235 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Postnatal growth retardation, Lateral ventricle dilatation, Normal pressure hydrocephalus, Optic ... |
ORPHA:300570 |
| Fontaine Progeroid Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Short stature, Hydrocephalus, Abnormal heart morphol... |
OMIM:612289 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Umbilical hernia, Hydrocephalus, Mitral valve prolapse |
OMIM:182212 |
| Functioning Gonadotropic Adenoma |
|
Hydrocephalus, Delayed puberty |
ORPHA:91348 |
| Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Hydrocephalus, Short stature, Abnormal heart morphology |
OMIM:227646 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:1454 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Hydrocephalus, Umbilical hernia, Abnormal aortic valve morphology, Abnormal mitral ... |
ORPHA:581 |
| Raine Syndrome |
|
Neonatal death, Natal tooth, Hydrocephalus, Short stature |
OMIM:259775 |
| 15Q Overgrowth Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation |
ORPHA:314585 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Hyd... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Hyd... |
ORPHA:363958 |
| Mend Syndrome |
|
Short stature, Hydrocephalus, Macular hypoplasia, Aortic valve stenosis, Dandy-Walker malformation |
OMIM:300960 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Short stature |
ORPHA:2720 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus, Abnormal heart morphology, Atrial septal defect, Hypertrophic cardiomyopathy, Pate... |
ORPHA:505248 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Short stature, Pericardial effusion, Postnatal growth retardation, Hydrocephalus, V... |
ORPHA:1272 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Growth delay, Hydrocephalus, Short stature |
OMIM:616007 |
| Apert Syndrome |
|
Delayed eruption of teeth, Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Mitral valve prolapse, Abnormal aortic valve morphology, Umbilical h... |
ORPHA:2462 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Hydrocephalus, Disproportionate sh... |
OMIM:210710 |
| Hajdu-Cheney Syndrome |
|
Mitral stenosis, Ventricular septal defect, Short stature, Hydrocephalus, Delayed puberty, Umbili... |
ORPHA:955 |
| 47,Xyy Syndrome |
|
Hydrocephalus |
ORPHA:8 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
| Orofaciodigital Syndrome I |
|
Myelomeningocele, Short stature, Hydrocephalus, Abnormal heart morphology |
OMIM:311200 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Cardiomyopathy, Growth delay |
OMIM:616084 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
| Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Hydrocephalus |
ORPHA:157 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Hydrocephalus, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:261337 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Short stature |
ORPHA:163979 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Communicating hydrocephalus |
OMIM:244400 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
| Achondroplasia |
|
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia |
OMIM:100800 |
| Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia, Ventriculomegaly |
OMIM:607932 |
| Hajdu-Cheney Syndrome |
|
Umbilical hernia, Hydrocephalus, Ventricular septal defect, Short stature |
OMIM:102500 |
| Gaucher Disease |
|
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Sho... |
ORPHA:355 |
| Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Ventricular septal defect, Short stature, Hydrocephalus, Growth delay, Severe pos... |
OMIM:194190 |
| Fraser Syndrome 3 |
|
Hydrocephalus, Stillbirth |
OMIM:617667 |
| Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Short stature, Aqueductal stenosis, Hydrocephalus, Tetralogy of Fallot |
OMIM:154400 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Trisomy 8P |
|
Abnormal atrioventricular connection, Hydrocephalus, Abnormal left ventricle morphology, Tetralog... |
ORPHA:264450 |
| Mohr Syndrome |
|
Hydrocephalus, Short stature |
OMIM:252100 |
| H Syndrome |
|
Hydrocephalus, Short stature, Delayed puberty |
ORPHA:168569 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Postnatal growth retardation, Hydrocephalus, Mitral valve prolapse |
ORPHA:536467 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Hydrocephalus, Aqueductal stenosis |
OMIM:619512 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth retardation, Hydrocephal... |
ORPHA:3472 |
| Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Delayed eruption of teeth, Short stature, Rhizomelia, Hydrocepha... |
ORPHA:666 |
| Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Short stature, Hydrocephalus, Growth delay, Colpocephaly, Holoprosence... |
OMIM:270400 |
| Peters Plus Syndrome |
|
Short stature, Rhizomelia, Postnatal growth retardation, Hydrocephalus, Bicuspid pulmonary valve,... |
ORPHA:709 |
| Craniopharyngioma |
|
Proportionate short stature, Postnatal growth retardation, Hydrocephalus, Growth delay, Delayed p... |
ORPHA:54595 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... |
ORPHA:580 |
| Campomelic Dysplasia |
|
Spina bifida, Hydrocephalus, Abnormal heart morphology, Spinal dysraphism, Disproportionate short... |
OMIM:114290 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus, Stillbirth, Short umbilical cord, Small placenta, Intrauterine growth retardation |
OMIM:208150 |
| Coccidioidomycosis |
|
Pericarditis, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, In... |
ORPHA:228123 |
| Kabuki Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Short stature, Ventriculomegaly |
ORPHA:2322 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Umbilical hernia, Ventriculomegaly |
OMIM:618188 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida |
OMIM:162200 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Short stature |
ORPHA:220295 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Abnormal heart morphology |
ORPHA:137667 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Short stature, Hydrocephalus, Abnormal heart morphology, Mitral valve ... |
ORPHA:363700 |
| Costello Syndrome |
|
Ventricular septal defect, Short stature, Hydrocephalus, Mitral valve prolapse, Pulmonic stenosis... |
OMIM:218040 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Semilobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect |
ORPHA:93924 |
| Tetrasomy 9P |
|
Pericarditis, Dextrocardia, Hydrocephalus, Abnormal cardiac septum morphology, Abnormal mitral va... |
ORPHA:3310 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Delayed puberty, Intrauterine gr... |
OMIM:619475 |
| Cockayne Syndrome B |
|
Severe short stature, Delayed eruption of primary teeth, Postnatal growth retardation, Hypoplasia... |
OMIM:133540 |
| Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:58 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Aortic valve calcification, Hydrocephalus, Growth delay, Bacterial en... |
ORPHA:2072 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia, Postnatal growth retardation, Short stature |
ORPHA:168577 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cor triatriatum, Ventricular septal defect, Dextrocardia, Short stature, Situs inversus totalis, ... |
OMIM:619534 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hydrocephalus, Growth delay, Abnormal pulmonary valve morphology |
ORPHA:667 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intrauterine growth retardation, Hydrocephalus, Short stature, Optic nerve hypoplasia |
OMIM:619321 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Stillbirth, Delayed puberty |
ORPHA:95699 |
| Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
| Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Optic nerve hypoplasia, Hydrocephalus, Abnormal heart morpho... |
OMIM:218600 |
| Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Hydrocephalus, Frontal encephalocele, St... |
OMIM:268300 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep... |
OMIM:609192 |
| Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia, Ventriculomegaly |
ORPHA:457284 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus |
ORPHA:637 |
| Microphthalmia, Syndromic 1 |
|
Growth delay, Microphthalmia, Anophthalmia, Bicuspid aortic valve |
OMIM:309800 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Di... |
OMIM:607872 |
| Pseudoaminopterin Syndrome |
|
Hydrocephalus, Patent foramen ovale, Short stature |
ORPHA:221120 |
| Otopalatodigital Syndrome, Type Ii |
|
Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Atrial sept... |
OMIM:304120 |
| Cockayne Syndrome A |
|
Short stature, Delayed eruption of primary teeth, Severe postnatal growth retardation, Normal pre... |
OMIM:216400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Microphthalmia, Ventriculomegaly |
OMIM:253280 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Sturge-Weber Syndrome |
|
Hydrocephalus |
ORPHA:3205 |
| Peters-Plus Syndrome |
|
Ventricular septal defect, Rhizomelia, Postnatal growth retardation, Hydrocephalus, Birth length ... |
OMIM:261540 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
| Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Optic disc hypoplasia, Short stature, Congenital malformation of the left heart, Hyd... |
ORPHA:3455 |
| Kabuki Syndrome 1 |
|
Short stature, Ventricular septal defect, Postnatal growth retardation, Hydrocephalus, Growth del... |
OMIM:147920 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep... |
OMIM:610168 |
| Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Short stature, Secundum atrial septal defect, Hydrocephal... |
OMIM:264090 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Short stature, Mild fetal ventriculomegaly, I... |
OMIM:619841 |
| Lymphangioleiomyomatosis |
|
Hydrocephalus, Chylopericardium |
ORPHA:538 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Umbilical hernia |
ORPHA:309282 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Severe short stature |
ORPHA:2658 |
| Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Umbilical hern... |
OMIM:107480 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia, Hydrocephalus |
OMIM:273395 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Hydrocephalus, Cardiomyopathy, Total anomalous pulmonary venous return... |
OMIM:312870 |
| Oeis Complex |
|
Myelomeningocele, Hydrocephalus |
OMIM:258040 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
| Schinzel-Giedion Syndrome |
|
Neural tube defect, Umbilical hernia |
ORPHA:798 |
| Meningioma |
|
Hydrocephalus |
ORPHA:2495 |
| Neurofibromatosis Type 1 |
|
Hydrocephalus, Short stature, Delayed puberty |
ORPHA:636 |
| Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
| Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Subependymal nodules |
ORPHA:805 |
| Coffin-Siris Syndrome 12 |
|
Tetralogy of Fallot, Patent foramen ovale, Noncommunicating hydrocephalus, Short stature |
OMIM:619325 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:457359 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus, Short stature |
ORPHA:3042 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:175780 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature |
OMIM:201100 |
| Acrodermatitis Enteropathica |
|
Short stature |
ORPHA:37 |
