| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Attention deficit hyperactivity disorder, Motor stereotypy, Hydrocephalus |
OMIM:618709 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Hyperactivity, Atrioventricular canal defect |
DECIPHER:39 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy |
OMIM:600790 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Stargardt Disease |
|
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... |
ORPHA:827 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
| Optic Atrophy 6 |
|
Optic atrophy, Retinal degeneration |
OMIM:258500 |
| Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615937 |
| Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251912 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:619470 |
| Irvan Syndrome |
|
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... |
ORPHA:209943 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration |
OMIM:617879 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
| Retinal Dystrophy And Obesity |
|
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... |
OMIM:616188 |
| 1Q21.1 Microduplication Syndrome |
|
Tetralogy of Fallot, Attention deficit hyperactivity disorder, Hydrocephalus |
ORPHA:250994 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Exudative retinal detachment |
OMIM:614224 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ventriculomegaly, Hyperactivity |
OMIM:613402 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus |
OMIM:300886 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment |
OMIM:620253 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Ventriculomegaly, Aggressive behavior, Hyperactivity, Compulsive behaviors |
OMIM:301107 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... |
OMIM:618195 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:604213 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventriculomegaly, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic... |
OMIM:618052 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Congenital Hydrocephalus |
|
Abnormal heart morphology, Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus, Self-mutilation |
OMIM:300884 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous |
OMIM:193230 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Fried Syndrome |
|
Aggressive behavior, Hydrocephalus |
ORPHA:85335 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Polyphagia, Aggressive behavior, Self-mutilation |
OMIM:616521 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Patent foramen ovale |
OMIM:617182 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Ventriculomegaly, Cardiomegaly, Hydrocephalus |
ORPHA:858 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
| Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Hepatosplenomegaly, Splenomegaly, CSF lymphocytic pleiocytosis, Hydrocephalus, ... |
OMIM:610333 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Aggressive behavior, Hydrocephalus, Hyperactivity, Restlessness, Agitation |
OMIM:300558 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity ... |
OMIM:620141 |
| Masa Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMIM:303350 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivity, Hepatomegaly, Asymmetric septal h... |
OMIM:252920 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... |
OMIM:616468 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Hydrocephalus, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus |
ORPHA:397951 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Ventriculomegaly, Hypertrophic cardiomyopathy, Increased CSF lactate, Ca... |
OMIM:619051 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Vacterl Association With Hydrocephalus |
|
Abnormal heart morphology, Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
| Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Mitral valve prolapse |
ORPHA:2183 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Hydrocephalus, Splenomegaly, Pericarditis |
ORPHA:163596 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Beck-Fahrner Syndrome |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Ventricular septal defect, Cardio... |
OMIM:618798 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hydrocephalus |
OMIM:619301 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Hydrocephalus, Ventricular septal defect |
OMIM:602501 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Hydrocephalus |
OMIM:243440 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Nasu-Hakola Disease |
|
Ventriculomegaly, Hydrocephalus, Disinhibition |
ORPHA:2770 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hydrocephalus |
ORPHA:251915 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus, Cardiomyopathy |
OMIM:613155 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Mulibrey Nanism |
|
Ventriculomegaly, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Meningocele, Anenc... |
OMIM:611134 |
| Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:203450 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus |
ORPHA:272 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect |
OMIM:147800 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus |
OMIM:614120 |
| Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma |
OMIM:615113 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Increased CSF lactate, Cardiomegaly, Dysphagia, Restlessness, Paroxy... |
ORPHA:391428 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Left ventricular hypertrophy, Hydrocephalus, Dandy-Walker malformation |
OMIM:613153 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... |
ORPHA:1908 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Alexander Disease Type I |
|
Dysphagia, Hydrocephalus |
ORPHA:363717 |
| Thanatophoric Dysplasia Type 2 |
|
Ventriculomegaly, Encephalocele, Hydrocephalus, Atrial septal defect, Holoprosencephaly |
ORPHA:93274 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc... |
OMIM:616034 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Communicating hydrocephalus, Anomalous pulmonary venous return |
ORPHA:2184 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... |
OMIM:300280 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Ventriculomegaly, Hydrocephalus |
OMIM:304100 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Hec Syndrome |
|
Communicating hydrocephalus, Endocardial fibroelastosis, Cardiomyopathy |
ORPHA:2119 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect, Cardiomegaly, S... |
OMIM:620609 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus |
ORPHA:2182 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventriculomegaly, Splenomegaly, Ventricular septal defect, Hydrocephalus, Hepatomegaly |
OMIM:615630 |
| Ciliary Dyskinesia, Primary, 53 |
|
Dilated fourth ventricle, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembran... |
OMIM:620642 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Restless legs, Hydrocephalus |
ORPHA:99947 |
| Greig Cephalopolysyndactyly Syndrome |
|
Abnormal heart morphology, Hydrocephalus, Ventriculomegaly, Atrial septal defect |
OMIM:175700 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Hydrocephalus, Ventricular septal defect |
OMIM:218350 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Dysphagia, Hydrocephalus, Dandy-Walker malformation |
ORPHA:163961 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| 3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Ventriculomegaly, Tetralogy of Fallot, Atrioventri... |
ORPHA:7 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Refsum Disease, Classic |
|
Cardiomegaly, Increased CSF protein concentration, Cardiomyopathy |
OMIM:266500 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Hydrocephalus |
OMIM:248000 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly |
OMIM:212140 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Dysphagia |
OMIM:207950 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Aq... |
OMIM:306955 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement,... |
ORPHA:244 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618577 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Williams-Beuren Region Duplication Syndrome |
|
Ventriculomegaly, Attention deficit hyperactivity disorder, Hydrocephalus |
OMIM:609757 |
| Temple Syndrome |
|
Polyphagia, Hydrocephalus |
ORPHA:254516 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Abnormal temper tantrums, Ventriculomegaly, Dilated third ventricle, Obsessive-compulsive trait, ... |
ORPHA:500055 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Attention deficit hyperactivity disorder, Hydrocephalus, Atrial septal def... |
ORPHA:459061 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Atrial septal defect, Ventricular septal defect |
OMIM:603387 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Colpocephaly, Atrial septal defect, Hydrocephalus, Right atrial enlargement, Co... |
OMIM:615219 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Ventriculomegaly, Atrial septal defect |
ORPHA:2655 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Pettigrew Syndrome |
|
Self-injurious behavior, Ventriculomegaly, Stereotypical hand wringing, Aggressive behavior, Hydr... |
OMIM:304340 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great art... |
ORPHA:1926 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Hydrocephalus, Ventricular septal defect |
OMIM:219730 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
| Triploidy |
|
Hydrocephalus, Abnormal cardiac septum morphology, Hepatomegaly, Meningocele, Holoprosencephaly |
ORPHA:3376 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Increased CSF lactate, Addictive alcohol use, Left ventricular hypertrophy, Hydrocephalus, Hyperg... |
ORPHA:90065 |
| 47,Xyy Syndrome |
|
Hydrocephalus, Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
ORPHA:8 |
| Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Abnormal heart morphology, Splenomegaly, Hydrocephalus, Hepatomegaly |
ORPHA:398124 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Transposition of the great arteries, Hydrocephalus, Dextrocardia, ... |
OMIM:314390 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Dilated fourth ventricle, Hydrocephalus |
ORPHA:370959 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Tetrasomy 15Q26 |
|
Hydrocephalus, Atrial septal defect, Dandy-Walker malformation |
OMIM:614846 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Pentalogy Of Cantrell |
|
Tetralogy of Fallot, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, A... |
ORPHA:1335 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventri... |
OMIM:619895 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Ventriculomegaly, Hyperactivity, Self-biting |
OMIM:618314 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Ventriculomegaly, Splenomegaly, Ventricular septal defect, Atrial septal defect, Hydrocephalus, H... |
OMIM:614576 |
| B4Galt1-Cdg |
|
Hepatomegaly, Hydrocephalus, Splenomegaly, Dandy-Walker malformation |
ORPHA:79332 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Compulsive behaviors, Aggressive behavior, Attention deficit hyperactivity disorder, Noncommunica... |
OMIM:619320 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, Dilated third ventricle, Head-banging, Lateral ventricle dilatation, Fre... |
OMIM:619575 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventriculomegaly, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Self-injurious behavior, Ventriculomegaly, Aggressive behavior, Colpocephaly, Hydrocephalus |
OMIM:619833 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Addictive alcohol use, Left ventricular hypertrophy, Hepat... |
ORPHA:57777 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Atrial se... |
OMIM:609029 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Decreased CSF copper concentration, Ventriculomegaly, Increased CSF lactate |
OMIM:620306 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Lateral ventricle dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmo... |
OMIM:612863 |
| Krabbe Disease |
|
Increased CSF protein concentration, Hydrocephalus |
OMIM:245200 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Atrial se... |
ORPHA:96170 |
| 1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Hydrocephalus, Abnormal cardiac septum morphology |
ORPHA:238769 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Hydrocephalus, Atrial septa... |
OMIM:612582 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Atrial septal defect,... |
OMIM:253800 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect |
OMIM:612938 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Pseudotrisomy 13 Syndrome |
|
Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect, Atrial septal d... |
OMIM:264480 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Situs inversus totalis, Hydrocephalus, Dextrocardia, Spina bifida occulta |
OMIM:613686 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Whipple Disease |
|
Polydipsia, Anorexia, Splenomegaly, Hydrocephalus, Myocarditis, Hepatomegaly, Pericarditis |
ORPHA:3452 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Holoprosencephaly, Hydrocephalus, Ventricular septal defect |
ORPHA:77298 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida, Hydrocephalus, Dextrocardia, Spina bifida occulta |
ORPHA:2437 |
| Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatomegaly |
OMIM:272200 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal temper tantrums, Ventriculomegaly, Splenomegaly, Abnormal mitral valve morphology, Disin... |
ORPHA:581 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Abnormal heart morphology, Hydrocephalus |
OMIM:601499 |
| Congenital Primary Aphakia |
|
Retinal dysplasia, Retinal detachment, Optic disc coloboma |
ORPHA:83461 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormal cardiac atrium morphology,... |
ORPHA:2306 |
| Griscelli Syndrome |
|
Hepatomegaly, Hydrocephalus, Encephalocele, Splenomegaly |
ORPHA:381 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| Houge-Janssens Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616362 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Hydrocephal... |
OMIM:261740 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
| Thoracoabdominal Syndrome |
|
Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Anencephaly |
OMIM:313850 |
| Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:225790 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Houge-Janssens Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:616355 |
| Fg Syndrome Type 1 |
|
Ventriculomegaly, Mitral valve prolapse, Attention deficit hyperactivity disorder, Atrial septal ... |
ORPHA:93932 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Double outlet right ventricle, Atrial septal defect |
OMIM:614886 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Dextrocardia |
|
Abnormal heart morphology, Situs inversus totalis, Hydrocephalus, Dextrocardia |
ORPHA:1666 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Hepatosplenomegaly, Hydrocephalus, Abnormal heart morphology |
ORPHA:93400 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Hyperactivity, Dandy-Walker malformation |
OMIM:617281 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Hydrocephalus |
OMIM:109120 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subvalvular aortic stenosis, Hydrocephalus, Atrial septal defect, Dand... |
OMIM:613001 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Ventriculomegaly, Cardiomyopathy, Cardiomegaly, Abnormal myocardium morphology, Hydrocephalus, He... |
ORPHA:228308 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Increased CSF protein concentration, Cardiomyopathy |
OMIM:105210 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Ventriculomegaly, Atrial septal defect |
ORPHA:1860 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Mucopolysaccharidosis, Type Ii |
|
Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Hydrocephalus, Hepatomegaly |
OMIM:309900 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Ventriculomegaly, Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricul... |
OMIM:620066 |
| Gaucher Disease, Perinatal Lethal |
|
Ventriculomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Dysphagia |
OMIM:608013 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology |
ORPHA:2075 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
| Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617822 |
| Trisomy 17P |
|
Aortic valve stenosis, Hypoplastic left heart, Hydrocephalus |
ORPHA:261290 |
| Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
| Trisomy 1Q |
|
Ventriculomegaly, Hydrocephalus, Ventricular septal defect |
ORPHA:261344 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus |
OMIM:614195 |
| Glutaric Acidemia I |
|
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Inappropriate laughter, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Distal Triplication 15Q |
|
Abnormal heart morphology, Hydrocephalus, Atrial septal defect, Dandy-Walker malformation |
ORPHA:314588 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal temper tantrums, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve morphol... |
ORPHA:580 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus |
OMIM:620156 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Hydrocephalus, Ventricular septal defect |
OMIM:300514 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Abnormal heart morphology, Hydrocephalus, Encephalocele |
ORPHA:1865 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| 7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Aortic valve stenosis, Ventriculomegaly, Ventricular septal defect, Aggr... |
ORPHA:96121 |
| Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Hydrocephalus |
ORPHA:2409 |
| Adams-Oliver Syndrome |
|
Tetralogy of Fallot, Hydrocephalus, Abnormal pulmonary valve morphology, Encephalocele |
ORPHA:974 |
| Joubert Syndrome |
|
Hydrocephalus, Situs inversus totalis, Encephalocele |
ORPHA:475 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Encephalocele, Dextrocardia |
ORPHA:220493 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Cerebral Visual Impairment |
|
Attention deficit hyperactivity disorder, Hydrocephalus |
ORPHA:447788 |
| Bresek Syndrome |
|
Hydrocephalus |
ORPHA:85284 |
| Mend Syndrome |
|
Aortic valve stenosis, Abnormal heart morphology, Aggressive behavior, Hydrocephalus, Hyperactivi... |
ORPHA:401973 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal... |
OMIM:613154 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Self-injurious behavior, Frequent temper tantrums, Hyperactivity, Atrial septal defect, Hydroceph... |
OMIM:619512 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Hydrocephalus |
OMIM:619951 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ventriculomegaly, Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:608836 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Hydrocephalus, Splenomegaly |
ORPHA:585 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Abnormal heart morphology, Hydrocephalus |
OMIM:239300 |
| Mucopolysaccharidosis Type 1 |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormal aortic valve... |
ORPHA:579 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2169 |
| 1Q21.1 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Hydrocephalus, Abnormal cardiac septum morphology |
ORPHA:250989 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hepatosplenomegaly, Hydrocephalus |
OMIM:259710 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Hurler Syndrome |
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Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Splenomegaly, Hydrocephalus, Hepa... |
OMIM:607014 |
| Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1647 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:60040 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Dysphagia, Right ventricular hypertrophy |
ORPHA:268 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Hydrocephalus, Splenomegaly |
OMIM:259700 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Proteus-Like Syndrome |
|
Hydrocephalus, Communicating hydrocephalus, Splenomegaly |
ORPHA:2969 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:217090 |
| Hurler Syndrome |
|
Cardiomyopathy, Abnormal heart valve morphology, Endocardial fibroelastosis, Splenomegaly, Hydroc... |
ORPHA:93473 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
ORPHA:465508 |
| Mucopolysaccharidosis, Type Vii |
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Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Hepatomegaly |
OMIM:253220 |
| Monosomy 18Q |
|
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Dysplastic ... |
ORPHA:1600 |
| Hydrolethalus |
|
Anencephaly, Hydrocephalus |
ORPHA:2189 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Mogs-Cdg |
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Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly |
ORPHA:79330 |
| Monosomy 9Q22.3 |
|
Hydrocephalus, Ventriculomegaly, Hyperactivity, Cardiac fibroma |
ORPHA:77301 |
| Lateral Meningocele Syndrome |
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Bicuspid aortic valve, Meningocele, Hydrocephalus, Ventricular septal defect |
OMIM:130720 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Ventriculomegaly, Choroid plexus cyst, Hydrocephalus |
OMIM:617866 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inappropriate laughter, Cardiomegaly |
OMIM:618143 |
| Cardiofaciocutaneous Syndrome 1 |
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Hypertrophic cardiomyopathy, Splenomegaly, Tongue thrusting, Atrial septal defect, Hydrocephalus,... |
OMIM:115150 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse |
OMIM:616914 |
| Aprosencephaly And Cerebellar Dysgenesis |
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Retinal dysplasia |
OMIM:601374 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Arachnoid Cyst |
|
Enlarged fossa interpeduncularis, Encephalocele, Disinhibition, Hydrocephalus, Holoprosencephaly |
ORPHA:2356 |
| Desmosterolosis |
|
Hydrocephalus, Ventriculomegaly, Splenomegaly, Anomalous pulmonary venous return |
ORPHA:35107 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| Lethal Congenital Contracture Syndrome 10 |
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Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Atrial septal defect |
OMIM:207410 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Ventriculomegaly, Occipital meningocele, Hydrocephalus, Atrial septal defect, Anencephaly |
OMIM:616546 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Pulmonic stenosis, Hydrocephalus, Atrial septal defect, Dandy-Walker malformation |
OMIM:257300 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Communicating hydrocephalus, Transposition of the great arteries, Ventricula... |
ORPHA:1780 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Short-Rib Thoracic Dysplasia 12 |
|
Splenomegaly, Patent foramen ovale, Ventricular septal defect, Hydrocephalus, Hepatomegaly, Holop... |
OMIM:269860 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Patent foramen ovale,... |
ORPHA:505248 |
| Walker-Warburg Syndrome |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:899 |
| Rhombencephalosynapsis |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:59315 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Mitral valve prolapse |
OMIM:104350 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:614921 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Situs inversus totalis |
OMIM:244400 |
| Sturge-Weber Syndrome |
|
Attention deficit hyperactivity disorder, Dysphagia, Hydrocephalus |
ORPHA:3205 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614969 |
| Marden-Walker Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Attention deficit hyperactivity disorder, Abno... |
ORPHA:2461 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Cardiofaciocutaneous Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Hydrocephalus, Atrial septal defect... |
ORPHA:1340 |
| Neurooculorenal Syndrome |
|
Ventriculomegaly, Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve... |
OMIM:620305 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Colpocephaly, Overriding aorta, Atrial se... |
OMIM:309801 |
| Tenorio Syndrome |
|
Ventriculomegaly, Hydrocephalus |
OMI |
