| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormal repetitive mannerisms, Ventriculomegaly, Attention deficit hyperactivity ... |
OMIM:618709 |
| Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology |
DECIPHER:39 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... |
OMIM:616648 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
| Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Hydrocephalus, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
| Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Tetralogy of Fallot, Attention deficit hyperactivity disorder |
ORPHA:250994 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
| 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 |
|
Hyperactivity, Ventriculomegaly |
OMIM:613402 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Cardiomegaly |
OMIM:300886 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Ventriculomegaly |
OMIM:301107 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment |
OMIM:620253 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
| Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... |
ORPHA:352731 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder |
ORPHA:261102 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus, Self-mutilation |
OMIM:300884 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology |
ORPHA:2185 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... |
ORPHA:436245 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
| Fried Syndrome |
|
Hydrocephalus, Aggressive behavior |
ORPHA:85335 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:2971 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... |
OMIM:601152 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Hydrocephalus, Ventriculomegaly, Cardiomegaly |
ORPHA:858 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials |
OMIM:256600 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Central Precocious Puberty In Male |
|
Hydrocephalus, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:649929 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Hepatosplenomegaly, Vent... |
OMIM:610333 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation |
OMIM:300558 |
| Krabbe Disease |
|
Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Optic atrophy |
OMIM:245200 |
| Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Pulmonic stenosis, Attention d... |
OMIM:620141 |
| Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
| Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials |
ORPHA:1947 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... |
ORPHA:320401 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visual evok... |
ORPHA:485421 |
| Mepan Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:508093 |
| Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... |
ORPHA:79431 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy |
OMIM:125310 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Cardiomegaly |
OMIM:269920 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology |
OMIM:276950 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Mitral valve prolapse |
ORPHA:2183 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Increased CSF lactate, Hypertrophic cardiomyopathy, Ventri... |
OMIM:619051 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
| Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:702 |
| Peho Syndrome |
|
Undetectable visual evoked potentials, Optic atrophy |
OMIM:260565 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Hydrocephalus |
ORPHA:163596 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Undetectable visual evoked potentials, Optic atrophy |
OMIM:601338 |
| Friedreich Ataxia |
|
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:229300 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... |
ORPHA:423479 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Undetectable visual evoked potentials, Chorioretinal coloboma |
ORPHA:163961 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno... |
ORPHA:52368 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Extra-axial cerebrospinal fluid accumulation, Attention ... |
OMIM:618798 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... |
OMIM:220210 |
| Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials, Optic disc pallor |
ORPHA:314389 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... |
OMIM:231550 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... |
ORPHA:168491 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:602501 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Micro Syndrome |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... |
ORPHA:2510 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormal nerve conduction velocity, Abnormal flash visual evoked potentials, Optic atrophy, Abnor... |
ORPHA:98755 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Disinhibition, Ventriculomegaly |
ORPHA:2770 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:616875 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:220220 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ventriculomegaly |
OMIM:253250 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:480898 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
| Infantile Neuroaxonal Dystrophy |
|
Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol... |
ORPHA:35069 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Cardiomegaly, Increased CSF lactate, Dysphagia, Hypertrophic cardiomyopathy, Paroxy... |
ORPHA:391428 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:309256 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
| Mpdu1-Cdg |
|
Undetectable visual evoked potentials, Optic atrophy |
ORPHA:79323 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Ventriculomegaly, Abnormal heart morphology |
OMIM:175700 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials |
ORPHA:1933 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... |
OMIM:616034 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:309263 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Ventriculomegaly |
ORPHA:93274 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Alexander Disease Type I |
|
Hydrocephalus, Dysphagia |
ORPHA:363717 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
| Hec Syndrome |
|
Communicating hydrocephalus, Cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2119 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Restless legs, Hydrocephalus |
ORPHA:99947 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e... |
OMIM:601455 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:218350 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| 3C Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Abn... |
ORPHA:7 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of pattern visual evoked potentials, Rod-cone dystrophy, Retinal degeneration |
ORPHA:166035 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus |
ORPHA:1516 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia |
OMIM:207950 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Increased CSF protein concentration, Cardiomegaly |
OMIM:266500 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
| Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Ventriculomegaly, Attention deficit hyperactivity disorder |
OMIM:609757 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
| Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hydrocephalus, Anoma... |
ORPHA:244 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Attention deficit hyperactivity disorder, Atrial septal defect, Aortic valve steno... |
ORPHA:459061 |
| Temple Syndrome |
|
Hydrocephalus, Polyphagia |
ORPHA:254516 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:603387 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurrent hand flappi... |
OMIM:617600 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Hydrocephalus, Ventriculomegaly |
ORPHA:2655 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Addictive alcohol use, Left ventricular... |
ORPHA:90065 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Impulsivity, Aggressive behavior, Hydrocephalus, Obsessive-compulsive trait, Abnormal temper tant... |
ORPHA:500055 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,... |
OMIM:615219 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Spinal dysraphism, Transposition of the great arteries,... |
ORPHA:1926 |
| Pettigrew Syndrome |
|
Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Self-injurious behavio... |
OMIM:304340 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:219730 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
| Triploidy |
|
Hepatomegaly, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly |
ORPHA:3376 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Transposition of the great arteries, Atrioventricular canal defect, ... |
OMIM:314390 |
| 47,Xyy Syndrome |
|
Hyperactivity, Hydrocephalus, Impulsivity, Attention deficit hyperactivity disorder |
ORPHA:8 |
| Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... |
ORPHA:309271 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly |
ORPHA:370959 |
| Warburg Micro Syndrome 2 |
|
Undetectable visual evoked potentials, Optic atrophy |
OMIM:614225 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology |
ORPHA:398124 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Ventriculomegaly, Self-biting |
OMIM:618314 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... |
OMIM:619895 |
| Tetrasomy 15Q26 |
|
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Anencep... |
ORPHA:1335 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Atrial septal defect, Ventr... |
OMIM:614576 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Attention deficit hyperactivity disorder, Noncommunicating hydrocephalus, Compulsive behaviors, A... |
OMIM:619320 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| B4Galt1-Cdg |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly, Ventriculomegaly |
OMIM:619833 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Hydrocephalus, Head-banging, Self-injurious behavior, Lateral ventricl... |
OMIM:619575 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormality ... |
ORPHA:206443 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Ventriculomegaly, Cardiomegaly |
OMIM:616897 |
| Emanuel Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Hydrocephalus, Pulmonic stenosis... |
OMIM:609029 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Decreased CSF copper concentration, Increased CSF lactate, Ventriculomegaly, Cardiomegaly |
OMIM:620306 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, L... |
OMIM:612863 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... |
OMIM:264480 |
| 1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly |
ORPHA:238769 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Emanuel Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Hydrocephalus, Pulmonic stenosis... |
ORPHA:96170 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hydrocephalus |
ORPHA:2181 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Abnormality of pattern visual evoked potentials, Retinal degeneration |
ORPHA:2822 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Hydrocephalus, Dandy-Walker malformation |
OMIM:612938 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Tetralogy of Fallot, Patent foram... |
OMIM:612582 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
| Mogs-Cdg |
|
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy |
ORPHA:79330 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Ventricular septal defect, Holoprosencephaly |
ORPHA:77298 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
| Whipple Disease |
|
Hepatomegaly, Pericarditis, Anorexia, Splenomegaly, Myocarditis, Hydrocephalus, Polydipsia |
ORPHA:3452 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Addictive alcohol use, Left ventricular hype... |
ORPHA:57777 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus |
ORPHA:171839 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
ORPHA:2437 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus, Abnormal heart morphology |
OMIM:601499 |
| Griscelli Syndrome |
|
Splenomegaly, Hepatomegaly, Encephalocele, Hydrocephalus |
ORPHA:381 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
| White-Sutton Syndrome |
|
Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia |
OMIM:616364 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Situs inversus totalis, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
OMIM:613686 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Ectopia cordis, Anencephaly, Transposition of the great arteries |
OMIM:313850 |
| Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Dandy-Walker malformation |
OMIM:614424 |
| Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616362 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
| Fg Syndrome Type 1 |
|
Hydrocephalus, Mitral valve prolapse, Compulsive behaviors, Attention deficit hyperactivity disor... |
ORPHA:93932 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Hydrocephalus, Hype... |
ORPHA:581 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:614219 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
| Dextrocardia |
|
Situs inversus totalis, Hydrocephalus, Dextrocardia, Abnormal heart morphology |
ORPHA:1666 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal heart morphology, Hydrocephalus, Hepatosplenomegaly |
ORPHA:93400 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Double outlet right ventricle, Hydrocephalus |
OMIM:614886 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Dand... |
OMIM:613001 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Conotruncal defect, ... |
ORPHA:2306 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Ventri... |
ORPHA:228308 |
| Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Hydrocephalus, Ventriculomegaly |
ORPHA:1860 |
| Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Genitopalatocardiac Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology |
ORPHA:2075 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Increased CSF protein concentration, Cardiomegaly |
OMIM:105210 |
| Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617822 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia, Ventriculomegaly |
OMIM:608013 |
| Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
| Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
| Trisomy 17P |
|
Aortic valve stenosis, Hypoplastic left heart, Hydrocephalus |
ORPHA:261290 |
| Cln5 Disease |
|
Abnormality of visual evoked potentials |
ORPHA:228360 |
| Trisomy 1Q |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
ORPHA:261344 |
| Hermansky-Pudlak Syndrome |
|
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism |
ORPHA:79430 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Inappropriate laughter, Hydrocephalus, Dandy-Walker malformation |
OMIM:618476 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Glutaric Acidemia I |
|
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Hepatosplenomegaly |
OMIM:309900 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Distal Triplication 15Q |
|
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation, Abnormal heart morphology |
ORPHA:314588 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
| Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:300514 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Ventricular septal defect, Aggressive behavior, Hydrocephalus, Poly... |
ORPHA:96121 |
| Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Hydrocephalus |
ORPHA:2409 |
| Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Tetralogy of Fallot, Abnormal pulmonary valve morphology |
ORPHA:974 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Abnormal heart morphology |
ORPHA:1865 |
| Joubert Syndrome |
|
Situs inversus totalis, Encephalocele, Hydrocephalus |
ORPHA:475 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Dextrocardia |
ORPHA:220493 |
| Bresek Syndrome |
|
Hydrocephalus |
ORPHA:85284 |
| Cerebral Visual Impairment |
|
Hydrocephalus, Attention deficit hyperactivity disorder |
ORPHA:447788 |
| Gorlin Syndrome |
|
Hydrocephalus |
ORPHA:377 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Hepatomegaly, Hyperactivity, Abnormal heart valve morphology, Abnorm... |
ORPHA:580 |
| Cockayne Syndrome A |
|
Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Retina... |
OMIM:216400 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus |
OMIM:620157 |
| Mend Syndrome |
|
Hyperactivity, Aggressive behavior, Hydrocephalus, Abnormal heart morphology, Aortic valve stenos... |
ORPHA:401973 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Enlarged kidney, Ventriculomegaly |
OMIM:608836 |
| Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:245600 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Aqueductal stenosis, Hydrocephalus, Self-injurious behavior, Compulsive behaviors,... |
OMIM:619512 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus, Abnormal heart morphology |
OMIM:239300 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus, Hepatosplenomegaly |
OMIM:259710 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Splenomegaly, Hepatomegaly, Hydrocephalus |
OMIM:259700 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
| Hurler Syndrome |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Cardiomyopathy, Endocardial fibroe... |
OMIM:607014 |
| 1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Attention deficit hyperactivity disorder |
ORPHA:250989 |
| Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Hydrocephalus |
OMIM:619951 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Dysphagia, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Hepatomegaly, Hydrocephalus |
ORPHA:585 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Splenomegaly, Hydrocephalus |
ORPHA:2969 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Hydrocephalus, Pulmonary valve def... |
ORPHA:1600 |
| Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Cardiomyopathy, Endoc... |
ORPHA:93473 |
| Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Abnormal aortic valve morphology, H... |
ORPHA:579 |
| Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
| Hydrolethalus |
|
Hydrocephalus, Anencephaly |
ORPHA:2189 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Cardiomyopathy |
OMIM:253220 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Monosomy 9Q22.3 |
|
Hyperactivity, Hydrocephalus, Cardiac fibroma, Ventriculomegaly |
ORPHA:77301 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Meningocele, Bicuspid aortic valve, Hydrocephalus |
OMIM:130720 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Disinhibition, Holoprosencephaly |
ORPHA:2356 |
| Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Hydrocephalus, Tongue thrusting, Pulmonic stenosis, Atrial septal defect, Hypertrop... |
OMIM:115150 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Retinal dysplasia |
OMIM:601374 |
| Desmosterolosis |
|
Splenomegaly, Hydrocephalus, Ventriculomegaly, Anomalous pulmonary venous return |
ORPHA:35107 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse |
OMIM:616914 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inappropriate laughter, Cardiomegaly |
OMIM:618143 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele, Ventriculomegaly |
OMIM:616546 |
| Cockayne Syndrome B |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Pigmenta... |
OMIM:133540 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... |
ORPHA:1780 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Dandy-Walker malformation |
OMIM:257300 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Hydrocephalus |
OMIM:207410 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Anencephaly, Holoprosenceph... |
OMIM:269860 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
| Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Mitral valve prolapse |
OMIM:104350 |
| Walker-Warburg Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:899 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus, Abnormal heart morphology, Hepatosplenomegaly, Atrial septal defect, Hypertrophic ... |
ORPHA:505248 |
| Sturge-Weber Syndrome |
|
Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:3205 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal anatomic... |
ORPHA:2461 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Communicating hydrocephalus |
OMIM:244400 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614969 |
| Tenorio Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hydrocephalus, Colpocephaly, Atrial septal defect, H... |
OMIM:309801 |
| Opitz-Kaveggia Syndrome |
|
Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal heart morphology |
OMIM:305450 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Abnormal cardiac... |
ORPHA:90652 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertro... |
ORPHA:1340 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of visual evoked potentials, Optic nerve compression |
ORPHA:667 |
| Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
| Neurooculorenal Syndrome |
|
Dextrocardia, Aqueductal stenosis, Hydrocephalus, Mitral valve prolapse, Tetralogy of Fallot with... |
OMIM:620305 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hydrocephalus, Cardiomyopathy |
ORPHA:157 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus |
OMIM:612940 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... |
OMIM:300967 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
| Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
| Peho Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Restrictive behavior, Hyperactivity, Ventricular septal defect, Bicuspid aortic valve, Impulsivit... |
OMIM:619475 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:2318 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus |
ORPHA:220497 |
| Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Cardiomyopathy, Communicating hydrocephalus |
OMIM:616084 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363958 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Noncommunicating... |
ORPHA:805 |
| Functioning Gonadotropic Adenoma |
|
Enlarged polycystic ovaries, Hydrocephalus |
ORPHA:91348 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus |
ORPHA:1834 |
| Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... |
ORPHA:355 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules, Dysphagia |
ORPHA:25 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Ventriculomegaly |
OMIM:259720 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Abnormal cardiac septum morphology, Holoprosencephaly |
ORPHA:2166 |
| Joubert Syndrome With Hepatic Defect |
|
Splenomegaly, Hepatomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:1454 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:1812 |
| Desmosterolosis |
|
Hydrocephalus, Total anomalous pulmonary venous return, Ventriculomegaly |
OMIM:602398 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Ventriculomegaly |
OMIM:618278 |
| Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal heart morphology |
OMIM:227646 |
| Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Enlarged kidney |
OMIM:612651 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus, Dextrocardia |
ORPHA:1571 |
| Alexander Disease |
|
Aqueductal stenosis, Self-injurious behavior, Hydrocephalus, Dysphagia |
ORPHA:58 |
| Mend Syndrome |
|
Hyperactivity, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Hydrocephalus |
OMIM:618162 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
| Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
| Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Hydrocephalus, Spi... |
ORPHA:2162 |
| Tetrasomy 5P |
|
Hydrocephalus |
ORPHA:3309 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus, Abnormal repetitive mannerisms |
ORPHA:300570 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hydrocephalus, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Cardiomyopathy, Cervical myelopathy, Mitral stenosis |
OMIM:253200 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Abnormal heart morphology |
ORPHA:137667 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus |
ORPHA:97339 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
| Gracile Bone Dysplasia |
|
Hydrocephalus |
OMIM:602361 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:614643 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials, Facial palsy |
ORPHA:258 |
| Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus |
OMIM:608091 |
| Jacobsen Syndrome |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Holoprosencephaly |
OMIM:147791 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
| 22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Splenomegaly, Hydro... |
ORPHA:567 |
| Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials |
ORPHA:512 |
| Trisomy 8P |
|
Abnormal atrioventricular connection, Hydrocephalus, Abnormal left ventricle morphology, Tetralog... |
ORPHA:264450 |
| Apert Syndrome |
|
Hydrocephalus, Overriding aorta, Ventricular septal defect, Ventriculomegaly |
OMIM:101200 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Hydrocephalus, Ventriculomegaly |
ORPHA:457284 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Pulmo... |
ORPHA:363700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:613150 |
| Congenital Myopathy 22A, Classic |
|
Normal pressure hydrocephalus |
OMIM:620351 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:616482 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Ventricular septal defect |
ORPHA:268249 |
| Ogden Syndrome |
|
Ventriculomegaly, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Card... |
OMIM:300855 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus |
OMIM:618590 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Rabin-Pappas Syndrome |
|
Hydrocephalus |
OMIM:620155 |
| Bohring-Opitz Syndrome |
|
Ventriculomegaly, Abnormal cardiac septum morphology, Dandy-Walker malformation, Cardiomegaly |
ORPHA:97297 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus, Mitral valve prolapse |
OMIM:182212 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Myelopathy, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Hyperactivity, Ventricular septal defect, Aggressive behavior, Splenomegaly, Hydroc... |
OMIM:270400 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida, Cardiac fibroma, Cardiac rhabdomyoma |
OMIM:109400 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Spina bifida |
OMIM:613776 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
| Apert Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:87 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Abnormal aortic valve morphology, Ventriculomegaly, Mitral valve pro... |
ORPHA:2462 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus |
ORPHA:2720 |
| Aymé-Gripp Syndrome |
|
Pericardial effusion, Pericarditis, Hydrocephalus, Ventriculomegaly |
ORPHA:1272 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hydrocephalus |
ORPHA:1555 |
| H Syndrome |
|
Hydrocephalus, Enlarged kidney, Hepatosplenomegaly |
ORPHA:168569 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Splenomegaly, Aortic valve calcification, Hydrocephalus, Hepatospleno... |
ORPHA:2072 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus |
ORPHA:3301 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus, Ventricular septal defect, Tricuspid valve prolapse, Attention deficit hyperactivi... |
ORPHA:261337 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Ventriculomegaly, Dysplastic aort... |
OMIM:602535 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology |
ORPHA:79282 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Increased CSF interferon alpha, Hepatosplenomegaly, Chronic CSF lymphocytosis, Hype... |
ORPHA:51 |
| Coccidioidomycosis |
|
Pericarditis, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, In... |
ORPHA:228123 |
| Tetrasomy 9P |
|
Pericarditis, Hyperactivity, Dextrocardia, Hydrocephalus, Abnormal cardiac septum morphology, Ina... |
ORPHA:3310 |
| Mirage Syndrome |
|
Hydrocephalus |
OMIM:617053 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:123790 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Ventricu... |
OMIM:236670 |
| Dubowitz Syndrome |
|
Hydrocephalus, Spina bifida occulta, Attention deficit hyperactivity disorder |
ORPHA:235 |
| Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Hydrocephalus, Spina bifida occulta, Ventricular septal defect |
OMIM:300373 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
| Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Splenomegaly, Hydrocephalus,... |
OMIM:249000 |
| Cone-Rod Synaptic Disorder, Congenital Nonprogressive |
|
Congenital stationary night blindness |
OMIM:610427 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Aggressive behavi... |
OMIM:607872 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus |
OMIM:616007 |
| Fanconi Anemia, Complementation Group L |
|
Hydrocephalus, Attention deficit hyperactivity disorder |
OMIM:614083 |
| 15Q Overgrowth Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:314585 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Dysphagia, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:365 |
| Meckel Syndrome |
|
Encephalocele, Situs inversus totalis, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy... |
ORPHA:564 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Dandy-Walker malformation, En... |
OMIM:130650 |
| Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
| Hajdu-Cheney Syndrome |
|
Hepatomegaly, Mitral stenosis, Ventricular septal defect, Splenomegaly, Hydrocephalus, Aortic val... |
ORPHA:955 |
| Fanconi Anemia |
|
Spina bifida, Hydrocephalus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology... |
ORPHA:84 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus |
ORPHA:65285 |
| Semilobar Holoprosencephaly |
|
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Attention deficit hyperactivity dis... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Attention deficit hyperactivity dis... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Attention deficit hyperactivity dis... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Hydrocephalus, Abnormal heart morphology, Neural tube defect, Attention deficit hyperactivity dis... |
ORPHA:93924 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly, Enlarged kidney |
OMIM:618188 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hydrocephalus, Mitral valve prolapse |
ORPHA:536467 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect |
ORPHA:163979 |
| Orofaciodigital Syndrome I |
|
Myelomeningocele, Hydrocephalus, Abnormal heart morphology |
OMIM:311200 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aqueductal stenosis, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:154400 |
| Kabuki Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly |
ORPHA:2322 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
| Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Hypoglycorrhachia, Hepatosplenomegaly |
ORPHA:168577 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus |
OMIM:101800 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus |
ORPHA:2378 |
| Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
| Osteootohepatoenteric Syndrome |
|
Hydrocephalus |
OMIM:619377 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
| Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
| Craniopharyngioma |
|
Hydrocephalus, Polyphagia |
ORPHA:54595 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Medulloblastoma |
|
Hydrocephalus |
ORPHA:616 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep... |
OMIM:609192 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology,... |
ORPHA:2556 |
| Costello Syndrome |
|
Ventricular septal defect, Hydrocephalus, Mitral valve prolapse, Pulmonic stenosis, Atrial septal... |
OMIM:218040 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus |
OMIM:277400 |
| Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Hydrocephalus, Noncommunicating hydrocephalus, Mitral valve prol... |
ORPHA:666 |
| Hajdu-Cheney Syndrome |
|
Hydrocephalus, Ventricular septal defect |
OMIM:102500 |
| Raine Syndrome |
|
Hydrocephalus |
OMIM:259775 |
| Stromme Syndrome |
|
Hydrocephalus |
OMIM:243605 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, S... |
OMIM:619534 |
| Campomelic Dysplasia |
|
Hydrocephalus, Spinal dysraphism, Spina bifida, Abnormal heart morphology |
OMIM:114290 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cardiomyopathy, Atrial septal defect, Tet... |
ORPHA:3472 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Lymphangioleiomyomatosis |
|
Hydrocephalus, Chylopericardium |
ORPHA:538 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Hydrocephalus, Dysphagia |
ORPHA:637 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Hydrocephalus, Lateral ventricle d... |
OMIM:210710 |
| Fontaine Progeroid Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Hydrocephalus, Abnormal heart morphology, Left ventr... |
OMIM:612289 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Enlarged polycystic ovaries, Hydrocephalus |
ORPHA:95699 |
| Fraser Syndrome 3 |
|
Hydrocephalus |
OMIM:617667 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Aggressive behavior, Mild fetal ventriculomegaly, Self-injurious beh... |
OMIM:619841 |
| Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
| Pseudoaminopterin Syndrome |
|
Hydrocephalus, Patent foramen ovale |
ORPHA:221120 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Hydrocephalus, Abnormal heart morphology |
OMIM:219000 |
| Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Abnormal repetitive mannerisms, V... |
OMIM:194190 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials |
OMIM:203700 |
| Peters Plus Syndrome |
|
Hydrocephalus, Bicuspid pulmonary valve, Abnormal cardiac septum morphology, Hypoplastic left hea... |
ORPHA:709 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Hepatosplenomegaly |
ORPHA:309282 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cardiomyopathy, Total anoma... |
OMIM:312870 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep... |
OMIM:610168 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |
| Wiedemann-Rautenstrauch Syndrome |
|
Secundum atrial septal defect, Hydrocephalus, Dandy-Walker malformation, Dysphagia |
OMIM:264090 |
| Neurofibromatosis Type 1 |
|
Hydrocephalus, Attention deficit hyperactivity disorder |
ORPHA:636 |
| Holoprosencephaly 9 |
|
Hydrocephalus, Holoprosencephaly |
OMIM:610829 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus |
ORPHA:2658 |
| Baller-Gerold Syndrome |
|
Hydrocephalus, Spina bifida occulta, Abnormal heart morphology |
OMIM:218600 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:256040 |
| Kabuki Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Lateral ventricle dilatation |
OMIM:147920 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
| Meningioma |
|
Hydrocephalus |
ORPHA:2495 |
| Coffin-Siris Syndrome 12 |
|
Abnormal repetitive mannerisms, Tetralogy of Fallot, Patent foramen ovale, Noncommunicating hydro... |
OMIM:619325 |
| Microphthalmia With Limb Anomalies |
|
Hydrocephalus |
ORPHA:1106 |
| Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Severe hydrocepha... |
OMIM:236680 |
| Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Tetralogy of F... |
OMIM:107480 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly |
ORPHA:457359 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Congenital malformation of the left heart, Dysplastic pulmonary valve, Pulmonic st... |
ORPHA:3455 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:253280 |
| Peters-Plus Syndrome |
|
Ventricular septal defect, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Ventriculomegaly |
OMIM:261540 |
| Oeis Complex |
|
Myelomeningocele, Hydrocephalus |
OMIM:258040 |
| Focal Dermal Hypoplasia |
|
Hydrocephalus, Spina bifida occulta, Myelomeningocele |
OMIM:305600 |
| Otopalatodigital Syndrome, Type Ii |
|
Atrial septal defect, Hydrocephalus, Spina bifida |
OMIM:304120 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hydrocephalus |
OMIM:619321 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus |
OMIM:208150 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus |
ORPHA:3042 |
| Roberts-Sc Phocomelia Syndrome |
|
Atrial septal defect, Hydrocephalus, Frontal encephalocele, Ventricular septal defect |
OMIM:268300 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:164210 |
