Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iri... |
ORPHA:79476 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... |
OMIM:103500 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Macrocephaly |
OMIM:155350 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... |
OMIM:220200 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation |
ORPHA:99000 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... |
OMIM:126070 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:615938 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Generalized hyperpigmentation, Cataract, Optic atrophy |
ORPHA:2253 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compul... |
OMIM:261600 |
Band Heterotopia |
|
Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Agenesis of corpus callosum, Ventricul... |
OMIM:600348 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:615937 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
ORPHA:101082 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:611808 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Vascular dilatation, Hydrocephalus, Part... |
OMIM:220220 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Cerebellar atrophy, Microcephaly, Stage 5 chronic kidney disease, Fo... |
OMIM:619603 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Macrocephaly, Hydrocephalus, Ventriculomegaly, Microcephaly |
OMIM:618709 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Corneal dystrophy, Optic atrophy, Developmental cataract, Gait disturbance |
ORPHA:2572 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
OMIM:160565 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis, Lateral ventricle dilatation |
OMIM:300982 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... |
OMIM:609637 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:436182 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology |
ORPHA:2703 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Abnormal oral glucose tolerance, Optic atrophy |
OMIM:311100 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon... |
ORPHA:293964 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation, Mac... |
OMIM:607091 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... |
OMIM:604213 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, ... |
OMIM:615771 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... |
ORPHA:54 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Cerebellar hypoplasia, Primary microcephaly |
OMIM:618266 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Iris hypopigmentation, Facial palsy, Ataxia, Aggressive behavior, Abnormality ... |
ORPHA:97229 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... |
OMIM:310600 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Elevated circulating creatine kinase concentration, Cerebellar vermis a... |
OMIM:619054 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Elevated circulating creatine kinase concentration, Hypoplasia of the ... |
OMIM:613154 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Lateral ventricle dilatation, A... |
OMIM:618330 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Bicuspid aortic valve, Ventr... |
OMIM:617751 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Ectopic kidney, Vascular dilatation, Hydrocephalus, Horsesh... |
OMIM:602200 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal degeneration, Central heterochromia |
OMIM:275400 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Optic Atrophy 2 |
|
Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... |
OMIM:616730 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation |
OMIM:123155 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Cataract, Aggressive behavior |
ORPHA:75858 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Macrocephaly |
ORPHA:99966 |
Woolly Hair |
|
Hypopigmentation of hair, Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation, Ventricular septal defect |
OMIM:616816 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Hypoglycemia, Iris hypopigmentation |
ORPHA:67048 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut... |
OMIM:615516 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Aggressive behavior, Overfriendliness |
OMIM:618010 |
Pseudo-Torch Syndrome 2 |
|
Petechiae, Cerebral hemorrhage, Microcephaly, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:617397 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Polyphagia, Inappropriate laug... |
ORPHA:411515 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly |
OMIM:614019 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Cerebellar atrophy, Proteinuria, Microcephaly, Stage 5 chronic kidne... |
OMIM:619609 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Increased serum pyruvate, Hyperalaninemia, Lateral ventricle dilatation, Microcephaly |
OMIM:617668 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Ventricular septal defect, Microcephaly, Partial agenesis of the corpus... |
ORPHA:79243 |
Spastic Ataxia 7, Autosomal Dominant |
|
Spastic ataxia, Dysdiadochokinesis, Optic atrophy |
OMIM:108650 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Loss of ambulation, Rod-cone dystrophy, Optic atrophy, Ataxia |
OMIM:609055 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Microcephaly, Partial agenesis of the corpus callosum, Lateral ... |
OMIM:619517 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Ventriculomegaly |
OMIM:614483 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... |
OMIM:618348 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Ataxia |
OMIM:136600 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... |
ORPHA:71212 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:619420 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, White hair, Blue irides, Positive ferric chloride test |
OMIM:250900 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar vermis atrophy, Microcephaly |
ORPHA:77299 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Micro... |
OMIM:617575 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:613265 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Heterochromia iridis |
OMIM:143000 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Ectopia pupillae, Astigmatism, Optic atrophy, Cataract |
OMIM:618727 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Optic atrophy, Type II diabetes... |
OMIM:614296 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Ataxia, Blue irides, Hypopigmented skin pa... |
OMIM:277580 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Macrocephaly, Tetralogy of Fallot |
ORPHA:250994 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Masa Syndrome |
|
Microcephaly, Hydrocephalus, Macrocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Glutaric aciduria, Subependymal cysts, D-2-hydroxyglutaric aciduria, Latera... |
OMIM:600721 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Elevated... |
ORPHA:370959 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency, Retinal arteriolar constric... |
OMIM:249660 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of D-threitol in plasma, Optic atrophy, Ataxia, Elevated circulating ribitol conc... |
OMIM:608611 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Hydrocephalus, Dysplastic tricuspid valve,... |
OMIM:612863 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia |
OMIM:615924 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of ... |
OMIM:619244 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Ectopia lentis |
OMIM:238700 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Usher Syndrome Type 3 |
|
Cataract, Ataxia, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... |
OMIM:615558 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Pontocerebellar Hypoplasia, Type 1A |
|
Microcephaly, Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricle dilatatio... |
OMIM:607596 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Stage 5 chronic kidney disease, L... |
OMIM:608629 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Loss of ambulation, Optic atrophy, Gait disturbance |
OMIM:615043 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Arrhythmia, Cerebellar hypoplasia, Microcephaly |
OMIM:620208 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesi... |
OMIM:618736 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration |
OMIM:266100 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Spastic ataxia, Optic atrophy, Hyperglycinemia, Gait disturbance |
OMIM:616859 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Cerebellar atrophy, Proteinuria, Microcephaly, Stage 5 chronic kidne... |
OMIM:617729 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Polyphagia, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Renal insufficiency, Ventriculomegaly, Hypospadias, Cerebellar vermis hy... |
ORPHA:397715 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cere... |
OMIM:618291 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Lateral ventricle dilatation |
OMIM:615889 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Cach Syndrome |
|
Cerebellar atrophy, Microcephaly, T2 hypointense thalamus, Progressive macrocephaly, Nonketotic h... |
ORPHA:135 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Unsteady gait, Cataract, Optic atrophy |
OMIM:620312 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abnormal circulating phytani... |
ORPHA:247815 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis ... |
ORPHA:300573 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle, Microcephaly |
OMIM:619725 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Retrocerebel... |
OMIM:614831 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Ventricular septal defect, Microcephaly, Lateral ventricle dilatation, ... |
ORPHA:3078 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:618890 |
Alg2-Cdg |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:79326 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis atrophy |
OMIM:213200 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Microcephaly, Cryptorchidism, Hydrocephalus, Micropenis, Dilated third ven... |
ORPHA:500055 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elevated circulating creatine kinase concentratio... |
ORPHA:370022 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Decreased retinol-binding pr... |
OMIM:615147 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Neutral Lipid Storage Disease With Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diff... |
OMIM:610717 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Neonatal hyperbilirubinemia |
OMIM:129850 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Congenital Hydrocephalus |
|
Hydrocephalus, Abnormal heart morphology, Colpocephaly, Macrocephaly, Ventriculomegaly |
ORPHA:2185 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Hydrocephalus, Chiari type I malformation, Renal tubular acidosis, Lat... |
OMIM:619575 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Ventriculomegaly, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasi... |
OMIM:615574 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Elevated circulating creatinine concentration, Hyper... |
OMIM:619111 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia |
OMIM:615960 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Optic atrophy |
OMIM:618572 |
Usher Syndrome Type 1 |
|
Cataract, Ataxia, Iris hypopigmentation |
ORPHA:231169 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Hyposerinemia, Lateral ventricle dilatation, Hyperglycinemia, Prima... |
ORPHA:284417 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of... |
OMIM:616602 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilation of Virchow-Robin spaces, Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral v... |
ORPHA:544488 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Hyperammonemia, Subependymal cysts, Lateral ventricle dilatation, Bradycardia, ... |
OMIM:610015 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Iris hypopigmentation |
ORPHA:177910 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Retrocerebellar cyst, Lateral ventricle dilatation, Cerebellar hypop... |
OMIM:614219 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Elevated hemoglobin A1c, Microcephaly |
OMIM:619278 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Hydrocephalus, Abnormal localization of kidney, Mitral regurgitation, ... |
ORPHA:83473 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Ventricular septal defect, Microcephaly, Lateral ventricle dilatation, Male urethral... |
ORPHA:464738 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning, Ataxia |
OMIM:618970 |
Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614706 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum,... |
ORPHA:171680 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Microcephaly, Methylmalonic acidu... |
OMIM:614105 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Cerebell... |
OMIM:614175 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... |
OMIM:221900 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, H... |
OMIM:617967 |
Developmental And Epileptic Encephalopathy 36 |
|
Macrocephaly, Hydrocephalus, Abnormal bleeding, Microcephaly |
OMIM:300884 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum |
OMIM:617296 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Hypoglycemia |
OMIM:609016 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-cone dystrophy, Retinal de... |
OMIM:204200 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Microcephaly, Hydrocephalus, Secondary microcephaly, Aortic valve stenosis |
OMIM:615599 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Self hugging, Head-banging, Onychotillom... |
OMIM:182290 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Cerebellar malformation, Ventricul... |
ORPHA:324416 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Cerebellar atrophy, Renal insufficiency, Ventriculomegaly, Proteinur... |
OMIM:251300 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Infe... |
OMIM:304100 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Aggressive behavior... |
OMIM:300438 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Hypopigmented skin patches, Irregular hy... |
ORPHA:2885 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Paganini-Miozzo Syndrome |
|
Hyperalaninemia, Lateral ventricle dilatation, Urinary incontinence |
OMIM:301025 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:614830 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Eye poking, Hyp... |
OMIM:204000 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Elevated circulating creatine kinase concentration, Retinal arteriolar tortuosit... |
OMIM:175780 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Ataxia, Optic atrophy, Dysphagia, Sensory axonal neuropathy |
ORPHA:329314 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Microcephaly |
ORPHA:398189 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Ventricular septal defect, Microcephaly, Abnormal heart morphology, Coa... |
ORPHA:261183 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal cerebellum morphology, Lateral ventricle dilatation, Macrocephaly |
OMIM:256850 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Stage 5... |
OMIM:610688 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Polyphagia |
OMIM:617885 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... |
OMIM:601706 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Blue irides, Red hair, Fair hair |
OMIM:614613 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Renal cyst |
OMIM:614870 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration |
OMIM:614322 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Chiari type I malformation, Abnormality of the urinary system, Macro... |
ORPHA:401986 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Conjunctivitis |
OMIM:603552 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dilation of Virchow-Robin spaces, Elevated circulating creatine kinase concentration, Microcephal... |
OMIM:619955 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:615716 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Glutaric Acidemia I |
|
Ketonuria, Glutaric aciduria, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Elevated... |
OMIM:231670 |
Nephronophthisis 18 |
|
Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointe... |
OMIM:615862 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... |
ORPHA:84090 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, G... |
ORPHA:411511 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Abnormal cerebellum morphology, Hydrocephalus, Cere... |
ORPHA:97339 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Ataxia, Cerulean cataract |
OMIM:616732 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure, Hydrocephalus, Macrocephaly, Macroorchidism |
OMIM:300886 |
Pontocerebellar Hypoplasia, Type 13 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation,... |
OMIM:618606 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Microcephaly |
ORPHA:26 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Ina... |
ORPHA:72 |
Spondylo-Ocular Syndrome |
|
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation |
ORPHA:85194 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Microcephaly, H... |
OMIM:613155 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... |
ORPHA:79477 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation, Urinary incontinence |
OMIM:221770 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Ventriculomegaly, Proteinuria, Dysplastic corpus callosum, Chronic kidney disease, Tubulointersti... |
ORPHA:488627 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia |
OMIM:610951 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:2246 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy, Inappropriate laughter, Gait ataxia |
OMIM:619323 |
X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Hyperpigmentation of the skin, Ata... |
OMIM:231550 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Difficulty walking |
ORPHA:320360 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Peripheral axonal neuropathy, Ataxia, Inability to walk, Retinal pigment epith... |
OMIM:619389 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:246650 |
Nephronophthisis 11 |
|
Polyuria, Stage 5 chronic kidney disease, Anisocoria, Renal corticomedullary cysts, Nephronophthi... |
OMIM:613550 |
Neurocutaneous Melanocytosis |
|
Renal hypoplasia/aplasia, Meningocele, Intracranial hemorrhage, Chiari malformation, Aplasia/Hypo... |
ORPHA:2481 |
Werner Syndrome |
|
Diabetes mellitus, Cataract, Elevated hemoglobin A1c, Hypertriglyceridemia, Retinal degeneration |
OMIM:277700 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis atrophy |
ORPHA:1170 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Pericarditis, Portal hypert... |
OMIM:619487 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Hyperglycemia, Polydipsia, Rod-co... |
OMIM:615986 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Increased circulating thyroglobulin level, Microcephaly, Abnormal renal morph... |
ORPHA:356961 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels |
OMIM:614504 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... |
OMIM:265380 |
Zaki Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Renal agenesis, Microcephaly, Patent duct... |
OMIM:619648 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy |
OMIM:617830 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... |
OMIM:193510 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly, Macrocephaly |
ORPHA:420179 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy |
OMIM:616171 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:208447 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... |
ORPHA:90065 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Familial Dysautonomia |
|
Hyponatremia, Renal insufficiency, Corneal opacity, Abnormal pupil morphology, Corneal erosion, O... |
ORPHA:1764 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Insulin resistance, Hyperinsulinemia, Gait ataxia |
ORPHA:363400 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly |
ORPHA:1931 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract |
ORPHA:85288 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... |
ORPHA:895 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Patent foramen ovale, Renal hypoplasia, Pulmonic stenosis |
OMIM:618914 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Abnormal bleeding, Cerebellar vermis hypoplasia, Dysplastic corpus call... |
ORPHA:357058 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Microcephaly |
OMIM:619470 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Chiari malformati... |
ORPHA:261102 |
Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentat... |
ORPHA:2969 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Microcephaly, Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinu... |
OMIM:616034 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal eating behavior, Tong... |
ORPHA:98794 |
Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degenera... |
OMIM:520000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Elevated circulating creatine kinase concentration, Hypoplasia of ... |
OMIM:613153 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Microcephaly, Cryptorchidism, Lateral ventricle dilatation, Primary microcephaly, Hyperalaninemia... |
OMIM:619847 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c... |
OMIM:214110 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Prematu... |
OMIM:611584 |
Wolfram-Like Syndrome |
|
Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Progressive cerebellar ataxia, Gl... |
ORPHA:411590 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation, Secondary microcephaly, Pontocerebellar atrophy |
OMIM:617854 |
Ataxia-Telangiectasia-Like Disorder |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar atrophy |
ORPHA:251347 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebellar h... |
OMIM:619302 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Vascular dilatation, Hydrocephalus, Tubular lumin... |
OMIM:219730 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Primary microcep... |
OMIM:617731 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, ... |
OMIM:218350 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia |
ORPHA:1532 |
Fried Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus |
ORPHA:85335 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Dilated third ventricle, Urinary incontinence, Abnormal cerebrospinal fluid m... |
ORPHA:314404 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... |
OMIM:152950 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
D-Glyceric Aciduria |
|
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Peroxisome Biogenesis Disorder 8B |
|
Cataract, Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic ... |
OMIM:614877 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Craniotelencephalic Dysplasia |
|
Microcephaly, Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia, Agenesis of corpus cal... |
ORPHA:1528 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased... |
OMIM:608836 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Ocula... |
OMIM:614077 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Hydrocephalus, Progressive macrocephaly, Nephroblastoma, Ventriculomegaly |
OMIM:602501 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve, Hydrocephalus, Secondary microcephaly |
ORPHA:397951 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def... |
OMIM:619172 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Aggressive behavior, Blue irides, Self-injurious behavior, Dysphagia |
OMIM:300978 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Optic atrophy, Abnormal circulating cholesterol concentration, Limb dysmetria, Spastic ... |
OMIM:270800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Cerebellar hypoplasia |
ORPHA:488635 |
Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Cerebellar hypo... |
OMIM:217090 |
Free Sialic Acid Storage Disease |
|
Ataxia, Abnormality of skin pigmentation, Athetosis, Gait disturbance, Iris hypopigmentation |
ORPHA:834 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Optic atrophy, Ataxia, Aggressive behavior |
OMIM:300983 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Cerebellar atrophy, Pericarditis, Cerebellar vermis hypoplasia, Protein... |
OMIM:212065 |
Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hemisphere hypop... |
OMIM:615191 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Secondary microcephaly, Cerebellar hypoplasia, Macrocephaly |
OMIM:618174 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Decreased response to growth hormone stimulation test, Unilateral r... |
OMIM:609757 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hydrocephalus, CSF lymphocytic pleiocytosis, Progressive microcephaly, Ventri... |
OMIM:610333 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Pulmonary artery atresia, Atrial septal defect, Patent foramen ovale, Tricuspid ... |
OMIM:212093 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia |
OMIM:613877 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm... |
ORPHA:98795 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae, Attention deficit hyperactivity disorder |
OMIM:618223 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:280356 |
Waardenburg Syndrome, Type 3 |
|
Aganglionic megacolon, Partial albinism, Blue irides, Hypopigmented skin patches, Premature grayi... |
OMIM:148820 |
3C Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Ventriculomegaly, Hypospadias, Ventricular septal defe... |
ORPHA:7 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege... |
OMIM:604484 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Renal cortical cysts, Renal cyst, Coarct... |
ORPHA:1692 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ventricular septal de... |
OMIM:614424 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Optic atrophy, Premature graying... |
ORPHA:33445 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Diencephalic Syndrome |
|
Hydrocephalus, Long penis |
ORPHA:1672 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Microcephaly, Abnormal cerebellum morphology, Cryptorchidism, Increased CSF lactate, Lateral vent... |
ORPHA:565624 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Stage 5 ... |
OMIM:602088 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology |
ORPHA:1617 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Microcornea, Self-injurious behavior, Gait disturbance,... |
ORPHA:819 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum... |
OMIM:304050 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressive cerebellar at... |
OMIM:164500 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Optic atrophy, Dysphagia |
OMIM:271930 |
Griscelli Syndrome |
|
Ataxia, Silver-gray hair, White hair, Hypopigmented skin patches, Premature graying of hair, Abno... |
ORPHA:381 |
Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus |
OMIM:300500 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Ataxia, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Hydrocephalus, Microcephaly |
OMIM:618302 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Cardiomegaly, Ventriculomegaly, Microcephaly |
ORPHA:858 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Microcephaly, Hydrocephalus, Chiari type I malformation, Hypothalamic ha... |
OMIM:241800 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Hydronephrosis |
ORPHA:251046 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology |
ORPHA:370091 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha... |
OMIM:611134 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Impulsivity, Optic atrophy, Gait disturbance, Compulsive behaviors, Dysphagia, Violent behavior, ... |
ORPHA:216873 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hydrocephalus, Mitral valve prolapse |
ORPHA:2183 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Renal insufficiency, Cerebellar vermis hypoplasia, Hypospadias, Microcephaly,... |
OMIM:611209 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:616834 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septal defect, Hy... |
OMIM:220210 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Hyperlipidemia, Joint h... |
ORPHA:35909 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... |
ORPHA:439232 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Microcephaly, Cryptorc... |
ORPHA:1926 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Hypospadias |
ORPHA:141333 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Secondary microcephaly |
ORPHA:2148 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Ventricular septal defect, Microcephaly, Bilateral cryptorchidism, Epis... |
ORPHA:434179 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Ectopic kidney, Ab... |
ORPHA:233 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Lateral ventricle dilatation, Patent foramen ovale |
OMIM:620075 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Glutaric aciduria, Chronic kidney disease, Progressive macrocephaly,... |
ORPHA:25 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Macrocephaly, Agenesis of ... |
OMIM:175700 |
Snakebite Envenomation |
|
Hyponatremia, Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock... |
ORPHA:449285 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Deafness-Hypogonadism Syndrome |
|
Congenital stationary night blindness, Heterochromia iridis |
ORPHA:90646 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Optic atrophy, Ataxia, Retinal telangiectasia |
ORPHA:104 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:352682 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... |
ORPHA:247598 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Blue irides, Progressive gait ataxia, Fair hair, Hypopig... |
OMIM:105830 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Iris transillumination defect, Ocular albinism, Albinism |
OMIM:614074 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Distal Deletion 10Q |
|
Atrial septal defect, Microcephaly, Patent ductus arteriosus, Functional abnormality of the bladd... |
ORPHA:96148 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy, Ataxia, Dysphagia |
ORPHA:1171 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms |
OMIM:239500 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Optic atrophy, Ketotic hypoglycemia |
ORPHA:26792 |
Spinocerebellar Ataxia 2 |
|
Dilated fourth ventricle, Cerebellar atrophy, Urinary incontinence, Urinary bladder sphincter dys... |
OMIM:183090 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Infantile Refsum Disease |
|
Cataract, Ataxia, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentration, ... |
ORPHA:772 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Inability to walk, Optic atrophy |
OMIM:618768 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
Cog5-Cdg |
|
Cerebellar atrophy, Neurogenic bladder, Urinary incontinence, Microcephaly, Cryptorchidism, Later... |
ORPHA:263487 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Atrial septal defect, Cerebellar vermis hypoplasia, Microcephaly, Paten... |
OMIM:619869 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Peroxisome Biogenesis Disorder 3B |
|
Retinal dystrophy, Ataxia, Elevated circulating phytanic acid concentration, Steatorrhea, Rod-con... |
OMIM:266510 |
Alexander Disease Type I |
|
Cerebellar atrophy, Hydrocephalus, Progressive macrocephaly, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Hypertension, Abnormal renal corticomedullary diff... |
OMIM:616733 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Unsteady gait, Blue irides, Dysmetria, Cafe-au-lait spot, Self-mutilation |
ORPHA:3041 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Macrocephaly, Interru... |
ORPHA:2396 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Cardiomegaly, H... |
ORPHA:228308 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-r... |
OMIM:203800 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Abnormal preputium morphology, Choroid plexus cyst, Glandular hypospadias, Lateral ventricle dila... |
ORPHA:293725 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Cerebellar hypoplasia |
ORPHA:401815 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Hydrocephalus, Nephrotic s... |
OMIM:269920 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Cryptorchidism, Mitral valve prolapse, Lateral ventricle dilatation, Pulmon... |
OMIM:619745 |
Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Developme... |
OMIM:267750 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr... |
OMIM:311070 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Patent ductus arteriosus, Hydrocephalus, Macrocephaly |
ORPHA:1516 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Holoprosenceph... |
ORPHA:93274 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Rod-cone dystrop... |
OMIM:612674 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Pseudobulbar paralysis, Attenuation of retinal blood vessels |
OMIM:617082 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Cardiomyopathy, Later... |
ORPHA:572798 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Wyburn-Mason Syndrome |
|
Retinal vascular malformation, Iris hypopigmentation |
ORPHA:53719 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Lateral ventricle dilatati... |
ORPHA:300570 |
Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
1Q44 Microdeletion Syndrome |
|
Microcephaly, Hydrocephalus, Horseshoe kidney, Abnormal cardiac septum morphology, Biparietal nar... |
ORPHA:238769 |
Zellweger Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic atrophy, Po... |
ORPHA:912 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Lateral ventricle di... |
ORPHA:457279 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Spastic gait, Optic atrophy, Severe temper tantrums |
OMIM:619052 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defect, Secondary micr... |
OMIM:619306 |
Prune1-Related Neurological Syndrome |
|
Cataract, Elevated circulating creatine kinase concentration, Inability to walk, Optic atrophy, R... |
ORPHA:544469 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Optic atrophy, ... |
ORPHA:96180 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Macrocephaly |
OMIM:307000 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size, Hypothalamic hamartoma |
ORPHA:649929 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Arterial stenosis, I... |
ORPHA:136 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh... |
OMIM:172800 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Enuresis |
ORPHA:289483 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Elevated circulating creatine kinase concentration, Hypoplasia of the pons,... |
OMIM:615181 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Megacystis, Nephrolithiasis, Mydriasis |
OMIM:619365 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Inability to walk, Optic disc pallor, Optic atrophy, Dysphagia |
OMIM:617086 |
Alagille Syndrome |
|
Keratoconus, Corneal dystrophy, Abnormal pupil morphology, Abnormality of the ureter, Nephrotic s... |
ORPHA:52 |
Machado-Joseph Disease |
|
Dilated fourth ventricle, Urinary bladder sphincter dysfunction, Cerebellar atrophy |
OMIM:109150 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity |
OMIM:252650 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Brushfield spots, Unsteady gait, Pigmentary retinopathy, Opacificati... |
OMIM:214100 |
Usher Syndrome Type 2 |
|
Cataract, Ataxia, Iris hypopigmentation |
ORPHA:231178 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... |
OMIM:277460 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Seckel Syndrome 10 |
|
Retinal detachment, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired gl... |
OMIM:617253 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Ataxia, Piebaldi... |
ORPHA:2884 |
Merrf |
|
Optic atrophy, Ataxia |
ORPHA:551 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Choroide... |
ORPHA:2719 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... |
OMIM:300952 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hemangioblastoma |
|
Cerebellar edema, Neurogenic bladder, Hydrocephalus, Cerebellar hemangioblastoma |
ORPHA:252054 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Nephropathy, Hypertension, Arterial stenosis |
ORPHA:820 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Microcephaly, Partial agenesis of the corpus call... |
OMIM:617478 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Cryp... |
ORPHA:261337 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polyphagia, Orthosta... |
ORPHA:66628 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia |
OMIM:605899 |
Machado-Joseph Disease Type 1 |
|
Dilated fourth ventricle, Neurogenic bladder, Cerebellar atrophy |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Dilated fourth ventricle, Neurogenic bladder, Cerebellar atrophy |
ORPHA:276241 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia |
ORPHA:1186 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Stroke, Decreased serum creat... |
ORPHA:54057 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:1466 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Macrocephaly |
ORPHA:380 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy, Dysphagia, Gait ataxia |
OMIM:620221 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... |
OMIM:602499 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma |
ORPHA:1791 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Spinocerebellar Ataxia 1 |
|
Dilated fourth ventricle, Urinary bladder sphincter dysfunction, Olivopontocerebellar atrophy, Sp... |
OMIM:164400 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus |
OMIM:614171 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, A... |
OMIM:609033 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Loss of ambulation |
OMIM:618241 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Chiari malformation, Cerebral ischemia, Arteriovenous ... |
ORPHA:60040 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m... |
OMIM:613150 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal... |
OMIM:614846 |
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Restlessness, Aggressive behavior, Optic atrophy, Exudative vitreoretinopathy, Dysphagia, Self-mu... |
OMIM:615075 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Microceph... |
ORPHA:90308 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polyphagia, Orthosta... |
ORPHA:179494 |
Hogue-Janssen Syndrome 2 |
|
Unilateral renal agenesis, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculome... |
OMIM:616362 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy |
OMIM:274270 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Abnormal heart morphology |
OMIM:276950 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,... |
ORPHA:140989 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Anorexia, Ocular albinism, Melanocytic nevu... |
ORPHA:79430 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly |
ORPHA:272 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Vascular ring, Mitral regurgitation, Macrocephaly, Atri... |
OMIM:603387 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Cerebellar vermis hypoplasia, Abnormality of the kidney, Hydrocephalus, Tu... |
ORPHA:459061 |
Cln3 Disease |
|
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Pigmentary retinopa... |
ORPHA:228346 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Ventricular septal defect, Microcephaly, Broad skull, Hydrocephalus, Patent ductus a... |
ORPHA:163979 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Proteinuria, Polyuria, Agenesis of cerebe... |
OMIM:243910 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Abnormal bleeding, Ventricular septal defect, Elevated circulating creatine k... |
OMIM:614576 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Renal agenesis, Ventricular septal defect, Dextrocardia, Microcephaly, Complete at... |
OMIM:264480 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malforma... |
ORPHA:163961 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Abnormal tricuspid valve morphology, Ventriculomegaly, Macrocephaly |
ORPHA:199276 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Hydrocephalus, Chronic kidney disease, N... |
OMIM:615630 |
L-2-Hydroxyglutaric Aciduria |
|
L-2-hydroxyglutaric acidemia, Optic atrophy, Ataxia |
OMIM:236792 |
Noonan Syndrome 13 |
|
Aggressive behavior, Blue irides, Head-banging, Multiple lentigines, Attention deficit hyperactiv... |
OMIM:619087 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Ataxia, Decreased nerve conduction velocity, Silver-gray hair, Ocular a... |
OMIM:214500 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Optic atrophy, Dysmetria, Astigmatism, Loss of ambulation, Spastic gait |
OMIM:616680 |
Leber Congenital Amaurosis 14 |
|
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Renal hypop... |
ORPHA:171839 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Macrocephaly, Atrial septal d... |
ORPHA:2655 |
Triple A Syndrome |
|
Generalized hyperpigmentation, Ataxia, Optic atrophy, Iris coloboma, Motor axonal neuropathy |
ORPHA:869 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimulation... |
OMIM:609053 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c... |
ORPHA:412 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Edinburgh Malformation Syndrome |
|
Brushfield spots |
ORPHA:1895 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618577 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Retinopathy, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Lissencephaly 8 |
|
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath... |
ORPHA:280679 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Brushfield spots, Conjugated hyperbilirubinemia, Optic nerve dysplasia, Optic atrophy, ... |
OMIM:614866 |
Machado-Joseph Disease Type 3 |
|
Dilated fourth ventricle, Neurogenic bladder, Cerebellar atrophy |
ORPHA:276244 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibrillation, Inflam... |
ORPHA:31825 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Cerebellar hypoplasia |
OMIM:300049 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Cryptorchidism, Lateral ventricle dilatation, Ureteropelvic j... |
OMIM:617557 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Elevated circul... |
ORPHA:157 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Colpocephaly, Macrocephaly, Atrial sept... |
OMIM:615219 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Secundum... |
ORPHA:2260 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microcornea, Generalized hypopigmentation, Cataract, Iris transillumination defect |
OMIM:617306 |
4H Leukodystrophy |
|
Cataract, Ataxia, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Dysphagia |
ORPHA:289494 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... |
OMIM:618620 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young |
OMIM:616222 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... |
ORPHA:279914 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Hydrocephalus, Pat... |
OMIM:617053 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Diabetes mellitus, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Dysphagia |
ORPHA:1177 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke, Microcephaly |
ORPHA:447788 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Unsteady gait, Optic atrophy |
OMIM:620314 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Microcephaly, Cryptorchidism, Hydrocephalus... |
ORPHA:85284 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Hematur... |
ORPHA:853 |
Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Hypomethioninemia, Microcephaly, Hemolytic-uremic syndrome, Hydrocephalus, Hyperh... |
ORPHA:2169 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Cerebellar hypoplasia, Microcephaly |
OMIM:618731 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Ventricular septal defect, Microcephaly, Aqueductal stenosis, Alobar holopros... |
OMIM:619895 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent du... |
ORPHA:261344 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... |
OMIM:193500 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Dandy-Walker malformation, A... |
OMIM:225790 |
Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Microcephaly, Lateral ventricle di... |
OMIM:619229 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase concentra... |
ORPHA:254886 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Hypoglycemia, Optic atrophy, Hyperammonemia, Choreoathetosis, Dysphagia, Loss of am... |
ORPHA:391428 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Agenesis of corpus callosum, Dandy-Walker malformation, Cryptorchidism, ... |
OMIM:249000 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... |
OMIM:222100 |
Muscle-Eye-Brain Disease |
|
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration, Gait disturbance |
ORPHA:588 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Urinary incontinence |
OMIM:236690 |
Revesz Syndrome |
|
Exudative retinopathy, Megalocornea, Fine, reticulate skin pigmentation, Leukocoria |
OMIM:268130 |
Galactokinase Deficiency |
|
Cataract, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Nuclear catara... |
ORPHA:79237 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia |
OMIM:619425 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Atrial septal defect, Bilateral fetal pyelectasis, Microcephaly, Pa... |
OMIM:300868 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158057 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Hypocalcemic seizures, Increased head circumference, Lateral ventricle dilatation |
OMIM:612301 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Alagille Syndrome 1 |
|
Cataract, Hypertriglyceridemia, Band keratopathy, Multiple small medullary renal cysts, Abnormal ... |
OMIM:118450 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic nerve hypoplasia, Optic atrophy, Gait disturbance, Chorioretinal coloboma |
ORPHA:163937 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Glycosuria, ... |
OMIM:268315 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Microcephaly, Hypoplasia of the pons, Retinal telangiectasia, Hydrocephalus, Chiari... |
OMIM:620157 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Microcephaly, Abnormal cerebellum morphology, Stage 5 chronic kidney disease, Hematu... |
OMIM:618349 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Microcephaly, Situs inversus totalis, Hydrocephalus, Me... |
ORPHA:1908 |
Temple Syndrome |
|
Relative macrocephaly, Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimul... |
ORPHA:254516 |
Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Inability to walk, Abnormal pupil morphology, Anisocoria, St... |
ORPHA:90658 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Microcephaly, Patent ductus arteriosus, Re... |
OMIM:617260 |
Proximal Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Ataxia, Insulin-resistant diabetes mellitus, Optic atrophy, Difficu... |
ORPHA:401768 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, He... |
ORPHA:99147 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglyceridemia... |
ORPHA:167 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Lateral ventricle dilatation, Small pituitary gland, Dysgenesis of the cerebellar ve... |
OMIM:619479 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Intracranial ... |
ORPHA:91350 |
Rhombencephalosynapsis |
|
Abnormal dentate nucleus morphology, Fusion of the cerebellar hemispheres, Agenesis of cerebellar... |
ORPHA:59315 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm... |
OMIM:603471 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Progressiv... |
OMIM:300749 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Ataxia |
ORPHA:85297 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma... |
ORPHA:2334 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Retrobulbar optic neuritis, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:3151 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Macrocephaly |
OMIM:109120 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated circulating alpha... |
OMIM:613095 |
Trichinellosis |
|
Facial palsy, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Abnormal optic ne... |
ORPHA:863 |
Leukodystrophy, Hypomyelinating, 22 |
|
Inability to walk, Optic disc pallor, Astigmatism |
OMIM:619328 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem... |
ORPHA:464321 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Ventriculomegaly, Truncus arteriosus, Ventricular septal defe... |
OMIM:609029 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Cryptorchidism, Mitral valve prolapse, Nephrotic s... |
OMIM:601776 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Subcapsular cataract, Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98907 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Microc... |
ORPHA:79282 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
Harel-Yoon Syndrome |
|
Peripheral axonal neuropathy, Ataxia, Corneal opacity, Inability to walk, Optic atrophy, Developm... |
OMIM:617183 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr... |
ORPHA:644 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia |
ORPHA:79085 |
Developmental And Epileptic Encephalopathy 93 |
|
Inability to walk, Optic atrophy, Iris coloboma, Gait disturbance |
OMIM:618012 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Microcephaly, Patent ductus arteriosus, Chiari malformation, Cerebellar hypoplasia, Tricuspid val... |
ORPHA:276413 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Inability to walk, Pigmentary retinopathy, Tip-toe gait, Gait disturbance, Att... |
ORPHA:216866 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Weaver Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Lateral ventricle dilatation, Cerebel... |
OMIM:277590 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial dip... |
OMIM:617302 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, White hair, Hypo... |
ORPHA:894 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of t... |
OMIM:617542 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypercholesterolem... |
ORPHA:528 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Elevated circulating luteinizing hormone l... |
OMIM:300845 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Tricuspid regurgitation, Hypospadias, Microcephaly, Epispadias, Hydroc... |
ORPHA:2556 |
Wound Botulism |
|
Urinary retention, Mydriasis |
ORPHA:178475 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
Miller Fisher Syndrome |
|
Ataxia, Facial palsy, Anisocoria, Dysphagia, Mydriasis |
ORPHA:98919 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrotransposition of the great arteries, Colp... |
OMIM:618619 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Spastic Paraplegia 2, X-Linked |
|
Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria |
OMIM:312920 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Iatrogenic Botulism |
|
Urinary retention, Mydriasis |
ORPHA:254509 |
Wolfram Syndrome 1 |
|
Cataract, Ataxia, Diabetes mellitus, Optic atrophy, Pigmentary retinopathy, Dysphagia |
OMIM:222300 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Optic atrophy, Abnormal retinal n... |
ORPHA:1215 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Chorioretinal dysplasia, Reti... |
ORPHA:899 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cataract, Optic atrophy, Dysphagia |
OMIM:619527 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia |
OMIM:613672 |
Wildervanck Syndrome |
|
Lens subluxation, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Hypospadias, Hypopigmented skin patches |
ORPHA:1784 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Inability to walk, Cataract, Optic atrophy |
OMIM:617481 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke |
OMIM:182410 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Hypoglycemia, Chorioretin... |
ORPHA:5 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Cataract, Hypertriglyceridemia, Impaired glucose tolerance, Insulin resi... |
OMIM:606721 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Hematuria, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingiva... |
ORPHA:79 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:616355 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Multicystic kidney dysplasia, Leukocoria, Multiple cafe-au-lait spots, Displa... |
ORPHA:1556 |
Fanconi Anemia, Complementation Group R |
|
Chiari type I malformation, Hydrocephalus, Pelvic kidney, Microcephaly |
OMIM:617244 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cataract, Ataxia, Diabetes mellitus, Morning glory anomaly, Optic atrophy, Gait disturbance, Dysp... |
ORPHA:98673 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Microcephaly, Hydrocephalus, Patent ductus arteriosus, Renal tubular dysfunction, Hyperbilirubine... |
OMIM:614886 |
Mowat-Wilson Syndrome |
|
Cataract, Aganglionic megacolon, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris colo... |
OMIM:235730 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Cryptorchidism, Hydrocephalus, C... |
OMIM:613001 |
Potocki-Lupski Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hypocholesterolemia |
OMIM:610883 |
Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation, Attenuati... |
OMIM:617166 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
47,Xyy Syndrome |
|
Macroorchidism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocepha... |
ORPHA:8 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis, Cryptorchidism |
ORPHA:2701 |
Spinocerebellar Ataxia 13 |
|
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria |
OMIM:605259 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macul... |
OMIM:619260 |
Leber Optic Atrophy And Dystonia |
|
Athetosis, Optic atrophy, Leber optic atrophy, Dysphagia |
OMIM:500001 |
Sarcosinemia |
|
Hypersarcosinemia, Optic atrophy, Ataxia |
ORPHA:3129 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract |
ORPHA:3173 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failu... |
ORPHA:94080 |
Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Hyperal... |
ORPHA:254881 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... |
ORPHA:2088 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Inability to walk, Optic atrophy, Hyperammonemia, Hyperalaninemia |
OMIM:614739 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ... |
OMIM:620300 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... |
ORPHA:280234 |
Behr Syndrome |
|
Ataxia, Unsteady gait, Optic atrophy, Hypoplastic optic chiasm, Dysmetria, Dysphagia, Gait distur... |
OMIM:210000 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Astigmatism, Optic atrophy |
OMIM:248000 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnorma... |
ORPHA:2184 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Microcephaly |
OMIM:300558 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Increased circulating farnesol concentration, Abnormality of hair pigment... |
OMIM:618156 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Optic atrophy, Retinal dystrophy, Anorexia |
ORPHA:49827 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Intraventricular hemorrhage, Cerebellar atrophy, Ventriculomegaly |
OMIM:616430 |
Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... |
ORPHA:2177 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve, Decreased serum creatinine, Hypohomocysteinemia, Hyp... |
OMIM:617744 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Ataxia, Unsteady gait, Optic atrophy, Hyperalaninemia |
OMIM:245349 |
Oculocerebrorenal Syndrome Of Lowe |
|
Chorioretinal dysplasia, Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalc... |
ORPHA:534 |
Wolf-Hirschhorn Syndrome |
|
Abnormal repetitive mannerisms, Ectopia pupillae, Iris coloboma, Rieger anomaly |
OMIM:194190 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Diabetes mellitus, Insulin resistance, Hypertriglyceridemia |
OMIM:615381 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... |
ORPHA:790 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Tricuspid regurgitation, Lateral ventric... |
OMIM:263520 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Dextrocardi... |
OMIM:620305 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Familial Chylomicronemia Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concen... |
ORPHA:444490 |
B4Galt1-Cdg |
|
Abnormal bleeding, Elevated circulating creatine kinase concentration, Hydrocephalus, Decreased L... |
ORPHA:79332 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Hydrocephalus, ... |
OMIM:616538 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Insulin-resistant diabetes mellitus, ... |
ORPHA:79083 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Spastic Paraplegia Type 7 |
|
Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Spastic gait |
ORPHA:99013 |
Inhalational Botulism |
|
Urinary retention, Mydriasis |
ORPHA:254504 |
Hermansky-Pudlak Syndrome 4 |
|
Hypoplasia of the fovea, Ocular albinism, Albinism |
OMIM:614073 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Urethral atresia, Transposition of the great arteries, Atrioventricu... |
OMIM:314390 |
Saccharopinuria |
|
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... |
ORPHA:3124 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Diabetes mellitus, Bulimia, Polyphagia, Self-injurious behavior, Abnorm... |
ORPHA:98793 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration,... |
ORPHA:91547 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Paten... |
ORPHA:77298 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Diabetes mellitus, Bulimia, Polyphagia, Self-injurious behavior, Abnorm... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Diabetes mellitus, Bulimia, Polyphagia, Self-injurious behavior, Abnorm... |
ORPHA:177901 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus |
ORPHA:2181 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Microcephaly, Hydrocephalus, Hyperhomocystinemia, Cystathioninemia, Stroke, Ho... |
ORPHA:395 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arte... |
ORPHA:137667 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Broad-based gait, Cataract, Aganglionic megacolon, Inability to walk, Abnormal pupi... |
ORPHA:261552 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Triploidy |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac se... |
ORPHA:3376 |
Congenital Fibrosis Of Extraocular Muscles |
|
Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia, Cataract |
ORPHA:45358 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:613266 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microcephaly, Intraventricular hemorrhage, Hydrocephalus, Hydrocele testis, Macrocephaly, Ventric... |
OMIM:613603 |
Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma |
OMIM:180200 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Hyperammonemia, Me... |
OMIM:251000 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Optic atrophy, Blue irides, Melanocytic nevus |
OMIM:101800 |
Joubert Syndrome 28 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:617121 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valve prolapse, Chiar... |
OMIM:609942 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... |
OMIM:610743 |
Emanuel Syndrome |
|
Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Micro... |
ORPHA:96170 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Diabetes mellitus, Bulimia, Polyphagia, Self-injurious behavior, Abnorm... |
ORPHA:98754 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Abnormality of the kidney, Decreased response to growth hormone st... |
ORPHA:177907 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Microcephaly, Vesicovaginal fistula, Hypertension, Lateral ventricle dilatation, Cerebellar hypop... |
OMIM:300896 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Microcephaly, Hydrocephalus, Urethral stenosis, Patent ductu... |
ORPHA:261290 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp... |
OMIM:618886 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Conjugated hyperbilirubinemia, Secundum atria... |
OMIM:619534 |
Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Horseshoe kidney, Endocardial fibroelastosis |
ORPHA:1973 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Elevated circulati... |
ORPHA:435660 |
Bainbridge-Ropers Syndrome |
|
Cryptorchidism, Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Microcephaly |
OMIM:615485 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Elevated circulating creatine kinase concentration, Microcephaly, Hydrocephalus, Cerebellar hypop... |
OMIM:615249 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... |
OMIM:615980 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Infant Botulism |
|
Hyponatremia, Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:44 |
Botulism |
|
Urinary retention, Mydriasis |
ORPHA:1267 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo... |
ORPHA:369929 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Ataxia, Optic atrophy, Spotty hyperpigmentation, Rod-cone dystrophy |
ORPHA:324737 |
Fanconi Anemia, Complementation Group B |
|
Renal agenesis, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Coarctation o... |
OMIM:300514 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Patent foramen ovale, Cryptorchidism, Ebst... |
ORPHA:506358 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Dilatation of the renal pelvi... |
ORPHA:314588 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Optic disc pallor, Restlessness, Elevated circulating hexacosanoic acid concentration, Optic atro... |
OMIM:614388 |
Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atr... |
ORPHA:398124 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Abnormal ... |
ORPHA:2075 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation, Orthostatic hypotension |
ORPHA:2822 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Hydrocephalus, Pericarditis |
ORPHA:163596 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, G... |
ORPHA:496790 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Hermansky-Pudlak Syndrome 6 |
|
Albinism, Ocular albinism, Absent foveal reflex, Macular hypoplasia, Hypopigmentation of the skin |
OMIM:614075 |
Tenorio Syndrome |
|
Raynaud phenomenon, Hydrocephalus, Enuresis, Syncope, Macrocephaly, Ventriculomegaly |
OMIM:616260 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Neurogenic bladder, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextroca... |
OMIM:613686 |
Medulloblastoma |
|
Cerebellar calcifications, Cerebellar hemorrhage, Hydrocephalus, Progressive macrocephaly, Cerebe... |
ORPHA:616 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Diabetes mellitus, Ataxia, Optic atrophy, Retinal degeneration |
OMIM:249270 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Polyphagia, Hyperinsulinemia, Self-injurious behavior, Type II diabetes... |
OMIM:176270 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Pericardial effusion, Hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Micro... |
OMIM:617822 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic... |
ORPHA:401777 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Superficial Siderosis |
|
Cerebellar atrophy, Enlarged sylvian cistern, Abnormal bleeding, Increased CSF protein concentrat... |
ORPHA:247245 |
Desmosterolosis |
|
Relative macrocephaly, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Pate... |
OMIM:602398 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Renal cyst, Atrial septal ... |
OMIM:210710 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Secondary mic... |
OMIM:612938 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Macrocephaly, Hydrocephalus, Microcephaly |
OMIM:613330 |
Foodborne Botulism |
|
Urinary retention, Mydriasis |
ORPHA:228371 |
Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Dysphagia, Self-injurious behavior, Astigmatism, Chorioretinal coloboma, Peters an... |
ORPHA:494344 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:98855 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Aggressive behavior, Optic atrophy, Dysphagia |
OMIM:614707 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Broad-based gait, A... |
ORPHA:14 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Micr... |
OMIM:607872 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Elevated circulating creatinine con... |
ORPHA:247691 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:601794 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Diabetes mellitus, Insulin resistance, Hypertriglyceridemia |
ORPHA:2348 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Cataract |
OMIM:613730 |
Isolated Atp Synthase Deficiency |
|
Cataract, Ataxia, Optic atrophy, Hyperammonemia, Hyperalaninemia, Rod-cone dystrophy |
ORPHA:254913 |
Thanatophoric Dysplasia Type 1 |
|
Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Macrocephaly, Atrial septal d... |
ORPHA:1860 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Chiari type I malformation, Hypocalcemia, Cerebellar hypoplasia, Macrocephaly, Dan... |
OMIM:618476 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... |
ORPHA:79098 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Koolen-De Vries Syndrome |
|
Hyperactivity, Cataract, Impulsivity, Fair hair, Iris hypopigmentation |
OMIM:610443 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Optic atrophy, Dysmetria, Athe... |
OMIM:617710 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Chiari malformation, Agenesis... |
OMIM:207950 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Optic disc coloboma, Microcornea, Retinoschisis, Heterochromia iridis, Iris coloboma |
ORPHA:2995 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Peripheral axonal neuropathy, Hypocholesterolemia, Developmental cataract |
OMIM:618810 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, R... |
ORPHA:79240 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Dysplastic tricuspid valve,... |
ORPHA:1724 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Agenesis of cerebellar verm... |
OMIM:608091 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Propionic Acidemia |
|
Increased level of hippuric acid in urine, Cerebellar hemorrhage, Hyperglycinuria, Hyperammonemia... |
OMIM:606054 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal renal morphology, Abn... |
ORPHA:1666 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Ventriculomegaly, Hypospadias, Nephroblastoma, Microcephaly, Crypto... |
OMIM:257300 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia |
OMIM:616204 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Ventriculomegaly, Decreased response to growth hormone stimul... |
OMIM:615873 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Microcephaly, Hydrocephalus, Abnormal cardiac ventricle morphology, Patent... |
ORPHA:2306 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Elevate... |
OMIM:274150 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... |
ORPHA:276621 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Sudden cardiac death, Elevated circulating acylcarnitine concentration, Co... |
ORPHA:99901 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation |
ORPHA:93262 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Subarachnoid hemorrhage, A... |
ORPHA:2356 |
Noonan Syndrome 4 |
|
Ureteral duplication, Blue irides, Hydronephrosis |
OMIM:610733 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Microcephaly, Secundum atrial septal defect,... |
ORPHA:1600 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia |
OMIM:612716 |
Tangier Disease |
|
Peripheral axonal neuropathy, Hypertriglyceridemia, Corneal opacity, Facial diplegia, Hypocholest... |
ORPHA:31150 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, At... |
ORPHA:636 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:98863 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation, Cherr... |
ORPHA:93399 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:98853 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Hydrocephalus, Myelomeningocele, Ureteral agenesis, Abnormality of th... |
ORPHA:2437 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
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 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage, Dense calcifications in the cerebellar dentate nucleus |
ORPHA:542310 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Relative macrocephaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricula... |
ORPHA:466791 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Ataxia, Xanthelasma, Abnormal circulating cholesterol concentration,... |
OMIM:213700 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
H Syndrome |
|
Hypertriglyceridemia, Micropenis, Corneal arcus, Enlarged kidney, Hyperpigmentation of the skin |
ORPHA:168569 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... |
OMIM:241500 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus, Hypocalcemia, Macrocephaly |
ORPHA:53 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Abnormal a... |
ORPHA:2479 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Optic atrophy, Aggressive behavior |
ORPHA:369939 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Coronary artery calcification, Arterial tortuosity, Arterial occlusion, Abnormal vascular morphol... |
ORPHA:289601 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:99014 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Optic nerve hypoplasia, Hyperopic astigmatism, Astigmatism, Tics, Inappropriate la... |
ORPHA:363686 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Abetalipoproteinemia, Bull's eye maculopathy, Impulsivity, Optic atrophy, Choreoathetosis, Pigmen... |
ORPHA:157850 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Secundum atrial septal defect, Crypt... |
OMIM:619951 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Congestive heart failure, Renal h... |
OMIM:181270 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... |
ORPHA:42775 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg... |
OMIM:615287 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus, Macrocephaly |
OMIM:620343 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Hypokale... |
ORPHA:251274 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Astigmatism, Gait disturbance, Obs... |
ORPHA:168491 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narro... |
ORPHA:220497 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Optic atrophy, Hyperammonemia, Hypoglycemia |
OMIM:614702 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Macrocephaly |
OMIM:310400 |
Cidec-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:435651 |
Primary Ciliary Dyskinesia |
|
Abnormal inferior vena cava morphology, Abnormal atrial arrangement, Atrial situs ambiguous, Situ... |
ORPHA:244 |
Pettigrew Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malf... |
OMIM:304340 |
Microtriplication 11Q24.1 |
|
Keratoconus, Hyperlipidemia, Bruxism |
ORPHA:289522 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Acquired Purpura Fulminans |
|
Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged ... |
ORPHA:49566 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... |
OMIM:214800 |
Pentalogy Of Cantrell |
|
Encephalocele, Renal agenesis, Hypospadias, Abnormal pericardium morphology, Ventricular septal d... |
ORPHA:1335 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Polycystic kidney dysplasia, Hyperechogenic kidneys, Ventricu... |
OMIM:617866 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse, Ureteral triplication, Hydronephr... |
OMIM:104350 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Difficulty walking, Attention deficit hyperact... |
ORPHA:442835 |
Fg Syndrome Type 1 |
|
Hypospadias, Abnormal cerebellum morphology, Hydrocephalus, Cryptorchidism, Mitral valve prolapse... |
ORPHA:93932 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Abnormality of the kidney, Hydrocephalus, Abnormal heart morphology, Telangiectasia... |
ORPHA:93400 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysphagia, Truncal a... |
OMIM:601338 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hypoglycemia, Low plasma citrulline, Optic atrophy, Fasting hypoglycemia, Impaired gluconeogenesis |
OMIM:261680 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
ORPHA:2255 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Melanocytic nevus |
ORPHA:2801 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Progressive microcephaly, Cerebellar hypop... |
OMIM:614969 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Macrocephaly |
OMIM:300863 |
Acquired Generalized Lipodystrophy |
|
Generalized hyperpigmentation, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabet... |
ORPHA:79086 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy |
ORPHA:254343 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Ventriculomegaly, Microcephaly |
OMIM:619833 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Optic atrophy, Hyperammonemia, Dysphagia, Loss of ambulation |
OMIM:618253 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Macrocephaly, Aplasia/Hypoplasia of the cereb... |
ORPHA:1812 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Macrocephaly |
ORPHA:2180 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Nonketotic hype... |
ORPHA:401866 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Hydrocephalus, Patent ductus arteriosus, Telangi... |
OMIM:612582 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Choroidal neovascularization, Elevated circulating C-reactive protein concentration, Sterile pyur... |
ORPHA:91500 |
3-Methylglutaconic Aciduria, Type I |
|
Athetosis, Optic atrophy, Self-mutilation, Ataxia |
OMIM:250950 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Peripheral axonal neuropathy, Hyperactivity, Ataxia, Elevated... |
OMIM:615673 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Short... |
OMIM:609136 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella... |
ORPHA:363429 |
Nail-Patella Syndrome |
|
Keratoconus, Renal insufficiency, Cataract, Proteinuria, Glomerulonephritis, Antecubital pterygiu... |
OMIM:161200 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... |
ORPHA:2715 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Hydrocephalus, Biparietal narro... |
ORPHA:2318 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalus, Dilated cardiom... |
OMIM:253800 |
Waardenburg Syndrome |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Abnormality of skin ... |
ORPHA:3440 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration |
ORPHA:31 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
OMIM:600001 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cataract, Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Loss of ambulation |
OMIM:620089 |
Juvenile Xanthogranuloma |
|
Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation |
ORPHA:158000 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Cerebellar vermis hypoplasia, Tricuspid regurgitation, Patent ductus arteri... |
OMIM:618460 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Abnormal ren... |
ORPHA:540 |
Marinesco-Sjögren Syndrome |
|
Cataract, Optic atrophy, Ataxia, Abnormal circulating creatine kinase concentration |
ORPHA:559 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Relative macrocephaly, Atrial septal defect, Transient ischemic attack, Bilateral renal dysplasia... |
ORPHA:500150 |
Nail-Patella Syndrome |
|
Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Tip-toe gait, Les... |
ORPHA:2614 |
Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Microcephaly, Hypoplasia of the pons, Retinal telangiectasia, Hydrocephalus, Chiari... |
OMIM:620155 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis |
OMIM:102700 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve, Renal agenesis, Unilateral renal agenesis |
OMIM:608980 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Ataxia, Optic atrophy, Unilateral facial palsy, Astigmatism, Rod-cone dystrophy |
OMIM:618547 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Microcephaly, Hemoly... |
OMIM:277400 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Patent ductus arteriosus, Elevated circulating creatinine concentration, Perimemb... |
OMIM:608104 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Hermansky-Pudlak Syndrome 7 |
|
Ocular albinism, Albinism |
OMIM:614076 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... |
ORPHA:99828 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Microcephaly... |
ORPHA:391641 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Cataract, Optic atrophy, Dysphagia |
OMIM:612379 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin resistance, Hyp... |
OMIM:613327 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Astigmatism, C... |
ORPHA:369837 |
Crouzon Syndrome |
|
Hydrocephalus, Chiari malformation, Cerebellar hypoplasia |
ORPHA:207 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Cataract, Aggressive behavior, Optic atrophy, Premature graying of hair, Difficult... |
OMIM:123450 |
Developmental And Epileptic Encephalopathy 31B |
|
Agenesis of corpus callosum, Colpocephaly, Secondary microcephaly, Ventriculomegaly |
OMIM:620352 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Lateral ventricle dilatation, Microcephaly |
OMIM:618367 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ventricular septal defect, Microcephaly, Junctional ectopic tachyc... |
OMIM:309801 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... |
OMIM:300539 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Hydrocephalus, Mucopolysacchariduria, Increased CSF protein concentration, Ve... |
OMIM:272200 |
Menkes Disease |
|
Intracranial hemorrhage, Decreased circulating ceruloplasmin concentration, Microcephaly |
OMIM:309400 |
Muenke Syndrome |
|
Hydrocephalus, Macrocephaly |
ORPHA:53271 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Hyperglycinuria |
OMIM:243500 |
Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Microcephaly, Abnormal aortic valve morphology, Abnormal tricus... |
ORPHA:192 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walk... |
OMIM:617281 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171420 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Calcificatio... |
OMIM:231005 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Fasting h... |
ORPHA:264580 |
Neuhauser Syndrome |
|
Hypoplasia of the iris, Iridodonesis, Megalocornea, Hypercholesterolemia |
OMIM:249310 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent foramen ovale, Partial agenesis of the corpus callosum, Patent ... |
OMIM:620113 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Proteinuria, Decreased response to growth hormone stimulat... |
ORPHA:1855 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Abnormal cerebel... |
ORPHA:1647 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition ... |
OMIM:313850 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:313892 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms |
ORPHA:530983 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephal... |
OMIM:147920 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, Hydrocephalu... |
OMIM:261740 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Pituitary go... |
ORPHA:91348 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Peho Syndrome |
|
Cerebellar atrophy, Microcephaly, Hydrocephalus, Biparietal narrowing, Ventriculomegaly |
ORPHA:2836 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,... |
ORPHA:95433 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Orthostatic hypotension, Ataxia, Dysphagia |
OMIM:615510 |
Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Heart murmur, Mitral valve prolap... |
ORPHA:284979 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... |
ORPHA:29072 |
Cardiospondylocarpofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Muscular ventricular septal defect, Dysplastic t... |
OMIM:157800 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Chiari malformati... |
ORPHA:268810 |
Infantile Neuroaxonal Dystrophy |
|
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, G... |
ORPHA:35069 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Corneal ulceration, Abnormal autonomic nervous system... |
OMIM:256800 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Optic atrophy, Hyperammonemia, Anorexia |
ORPHA:79312 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Optic disc pallor, Hyperprolinemia |
OMIM:619170 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal localiza... |
ORPHA:1834 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalus, Partial agenesi... |
OMIM:614643 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Multiple Sulfatase Deficiency |
|
Macrocephaly, Hydrocephalus, Mucopolysacchariduria, Microcephaly |
ORPHA:585 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Abnormal heart morphology |
OMIM:601499 |
Marden-Walker Syndrome |
|
Epispadias, Agenesis of corpus callosum, Abnormal penis morphology, Multicystic kidney dysplasia,... |
ORPHA:2461 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Cerebellar vermis hyp... |
ORPHA:1454 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hypoglycemia |
ORPHA:369 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Colpocephaly, Mitral regurgita... |
ORPHA:261250 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Glomerulonephritis, ... |
ORPHA:36234 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpi... |
ORPHA:231625 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Desmosterolosis |
|
Renal agenesis, Microcephaly, Renal hypoplasia/aplasia, Hydrocephalus, Patent ductus arteriosus, ... |
ORPHA:35107 |
Dubowitz Syndrome |
|
Hyperactivity, Hypoplasia of the iris, Hypocholesterolemia, Megalocornea, Rod-cone dystrophy, Iri... |
OMIM:223370 |
Cinca Syndrome |
|
Papilledema, Elevated circulating C-reactive protein concentration, Uveitis |
OMIM:607115 |
Lowry-Maclean Syndrome |
|
Hypospadias, Microcephaly, Bilateral cryptorchidism, Hydrocephalus, Coarctation of aorta, Atriove... |
ORPHA:2409 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... |
ORPHA:411634 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Hypoglycemia, Macular atrophy, Neonatal hypoglycemia |
OMIM:619418 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:614098 |
Turnpenny-Fry Syndrome |
|
Relative macrocephaly, Aortic regurgitation, Cerebellar vermis hypoplasia, Microcephaly, Patent d... |
OMIM:618371 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... |
ORPHA:363958 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Conjunctivitis |
OMIM:617591 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular al... |
OMIM:203300 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, Hy... |
OMIM:618249 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Microcephaly, Hydrocephalus, Bruising susceptibility, Agenesis of co... |
OMIM:612940 |
Mucopolysaccharidosis, Type Ii |
|
Abnormal heart valve morphology, Heparan sulfate excretion in urine, Congestive heart failure, Hy... |
OMIM:309900 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:1173 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Optic atrophy, Hypocalcemia, Hyperbilirubinemia, Mydriasis |
OMIM:259720 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Abnormal pulmonary valve morphology, Portal hypertens... |
ORPHA:974 |
Wolfram Syndrome, Mitochondrial Form |
|
Diabetes mellitus, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Elevated circulating creatin... |
ORPHA:90068 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse, Hypertension, Aortic root an... |
OMIM:616914 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Mitral valve prolapse, Tricuspid valve prolapse, Pulmonary arterial hypertensi... |
OMIM:309350 |
Vici Syndrome |
|
Hypopigmentation of hair, Cataract, Macular atrophy, Elevated circulating creatine kinase concent... |
OMIM:242840 |
1Q21.1 Microdeletion Syndrome |
|
Microcephaly, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum mo... |
ORPHA:250989 |
Pituitary Apoplexy |
|
Hyponatremia, Increased circulating cortisol level, Mydriasis |
ORPHA:95613 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Optic atrophy, Pigmentary retinopathy, Athetosis, Gait disturbance, Dy... |
OMIM:617282 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Urinary incontinence, Microcephaly, Pineal cyst, Decreas... |
OMIM:618885 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r... |
ORPHA:90041 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Diabetes mellitus, Inability to walk, Optic atrophy, D... |
ORPHA:95 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Hypokalemia, Epistaxis |
ORPHA:403 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Fre... |
OMIM:610651 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials |
OMIM:617523 |
Gracile Bone Dysplasia |
|
Micropenis, Hydrocephalus, Hypocalcemia |
OMIM:602361 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... |
ORPHA:363618 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Dextrocardia, Hydrocephalus, Biparietal narrowing, A... |
ORPHA:220493 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Retinal infarction, Mydriasis |
OMIM:613834 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypopigmentation of the skin, Abnor... |
ORPHA:1493 |
Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Situs inversus totalis, Hydrocephalus, Biparietal na... |
ORPHA:475 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Bladde... |
ORPHA:287 |
Serotonin Syndrome |
|
Acute kidney injury, Mydriasis |
ORPHA:43116 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Cataract, Corneal opacity, Ataxia |
ORPHA:309288 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Pulmonary venous hypertension, Proteinuria |
ORPHA:90060 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia |
OMIM:618233 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias |
OMIM:610644 |
15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Ureterovesical stenosis, Hydrocephalus, Abnormal renal morphology, Horse... |
ORPHA:314585 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant d... |
ORPHA:79474 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Bulimia, Optic atrophy |
OMIM:614651 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abn... |
ORPHA:485405 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Mi... |
OMIM:236670 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Subdural hemorrhage, Horseshoe kidney, Cerebellar hypoplasia, Atria... |
OMIM:311900 |
Stormorken Syndrome |
|
Abnormal bleeding, Elevated circulating creatine kinase concentration, Epistaxis, Subarachnoid he... |
OMIM:185070 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Mydriasis, Anisocoria, Abnormali... |
ORPHA:79138 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Polycystic kidney dysplasia, Atrial sep... |
OMIM:616546 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage, Oral cavity bleeding,... |
ORPHA:324636 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus, Abnormality of the urinary system, ... |
ORPHA:2412 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Hypokalemia, Epistaxis |
ORPHA:404 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Cataract, Inability to walk, Developmental glauc... |
ORPHA:99956 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
Tetrasomy 5P |
|
Congestive heart failure, Hydrocephalus, Heart murmur, Cerebellar hypoplasia, Macrocephaly, Pulmo... |
ORPHA:3309 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Optic atrophy, Hypoglycemia |
OMIM:608688 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the... |
OMIM:612284 |
Madras Motor Neuron Disease |
|
Optic atrophy, Facial palsy, Dysphagia |
ORPHA:137867 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Microcephaly, Cryptorc... |
ORPHA:2166 |
Marfan Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, M... |
OMIM:154700 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Enlarged cerebellum, Macrocephaly |
ORPHA:65285 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Unilateral renal agenesis |
ORPHA:1064 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy |
ORPHA:1021 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Bilateral renal hypoplasia, Cerebellar... |
OMIM:243605 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Oral-pharyngeal dysphag... |
OMIM:616878 |
Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:377 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Insulin resista... |
ORPHA:280365 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Keratoconjunctivitis sicca, Astigmatism, Hypertriglyceridemia |
ORPHA:536532 |
Warburg Micro Syndrome 3 |
|
Cataract, Inability to walk, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior... |
OMIM:614222 |
Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... |
ORPHA:185 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Microcephaly, Cryptorchidism, Hydro... |
OMIM:227646 |
Halperin-Birk Syndrome |
|
Colpocephaly, Perimembranous ventricular septal defect, Agenesis of corpus callosum, Ventriculome... |
OMIM:618651 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Cryptorchidism, Abnormal T-wave,... |
ORPHA:444072 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse... |
ORPHA:464329 |
Distal Deletion 13Q |
|
Optic atrophy, Iris coloboma |
ORPHA:1590 |
1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... |
OMIM:617600 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy, Ataxia |
OMIM:618248 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Unilateral renal agenesis, Intraventricular hemorrhage, Methylmalonic aciduria... |
ORPHA:79284 |
Mevalonic Aciduria |
|
Optic disc pallor, Cataract, Ataxia, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:610377 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Ataxia, Optic atrophy, Hyperammonemia |
ORPHA:27 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Inability to walk, Optic atrophy, Sensory axonal neuropathy, Motor axonal neur... |
OMIM:609541 |
Leber Optic Atrophy |
|
Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic ... |
OMIM:535000 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... |
ORPHA:505248 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Cataract, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Choreoathet... |
OMIM:617988 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Cardiomyopathy, Aminoaciduria, Communicating hydrocephalus |
OMIM:616084 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Microcephaly, Intraventricular hemorrhage, In... |
OMIM:619055 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Astigmatism, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dystrophy |
OMIM:619471 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Congestive heart failure, Hydrocephalus, Mucopolysacchariduria, ... |
ORPHA:579 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility |
ORPHA:3226 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Hydrocephal... |
OMIM:130720 |
Meningioma |
|
Enlarged pituitary gland, Urinary incontinence, Reduced circulating prolactin concentration, Neop... |
ORPHA:2495 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, Hyperalaninemia |
OMIM:618329 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Cerebellar hypoplasia |
ORPHA:163966 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus, Hypocalcemia, Macrocephaly |
OMIM:259700 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Elevated circulating ac... |
ORPHA:480864 |
Aspergillosis |
|
Intracranial hemorrhage, Stroke, Abnormality of the kidney |
ORPHA:1163 |
Endocrine-Cerebroosteodysplasia |
|
Ventriculomegaly, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Holoprosencephaly, Ap... |
OMIM:612651 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Dilated fourth ventricle, Renal dysplasia, Atrial septal defect, Cerebellar vermis hypoplasia, Pa... |
ORPHA:480880 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Urinary incontinence, Congestive heart failure, Hydrocephalus, Macrocephaly, Pulmonary arterial h... |
OMIM:616482 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Cryptorchidism, Mitral regurgitation, Tricuspid regurgitation, Tricuspid valve prolapse |
ORPHA:1101 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis |
ORPHA:504476 |
Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydr... |
ORPHA:3452 |
Hydrolethalus |
|
Anencephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2189 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... |
ORPHA:230 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Hyperlipidemia, Increased ... |
ORPHA:77293 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus, Macrocephaly |
OMIM:616294 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Precocious atherosclerosis, Spina bifida occulta, Mitral valve prola... |
ORPHA:230839 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Microcephaly, Alobar holoprosencephaly, Patent ductus arteriosus, Agen... |
OMIM:301043 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria, Abnormality of ci... |
ORPHA:35706 |
Kaufman Oculocerebrofacial Syndrome |
|
Microcornea, Optic disc pallor, Astigmatism, Hypocholesterolemia |
OMIM:244450 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence, Chiari type I malforma... |
ORPHA:261537 |
Trisomy 8P |
|
Peripheral pulmonary artery stenosis, Abnormal atrioventricular connection, Microcephaly, Cryptor... |
ORPHA:264450 |
Alport Syndrome |
|
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... |
ORPHA:63 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Cryptorchidism, Mitral valve pro... |
OMIM:616202 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Proteinuria, Hypermelanotic macule, Minimal change glomerulonephritis, Hyperlipi... |
ORPHA:1830 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
Hypoplasminogenemia |
|
Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Dandy-Walker malformation |
ORPHA:722 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Glomerulopathy, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden c... |
ORPHA:906 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Transposition of the great arteries, Tetr... |
ORPHA:1780 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Abnormal dentate nucleus morphology, Dilation of Virchow-Robin spaces, Microcephaly, Aqueductal s... |
OMIM:619512 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Optic disc colo... |
OMIM:213300 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:3301 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Macrocephaly |
OMIM:187600 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... |
OMIM:232300 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... |
OMIM:173900 |
Hurler Syndrome |
|
Aortic regurgitation, Heparan sulfate excretion in urine, Hydrocephalus, Dermatan sulfate excreti... |
OMIM:607014 |
Holoprosencephaly |
|
Hyponatremia, Encephalocele, Hypoplasia of penis, Proteinuria, Ventricular septal defect, Abnorma... |
ORPHA:2162 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Ataxia, Elevated circulating creatine kinase concentratio... |
OMIM:614298 |
Osteogenesis Imperfecta |
|
Relative macrocephaly, Abnormal endocardium morphology, Aortic regurgitation, Aortic dissection, ... |
ORPHA:666 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Glycogen Storage Disease Ia |
|
Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglycemia, Lipemia retinalis |
OMIM:232200 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmentation of hair, Aganglionic megacolon, Ataxia, Hypopigmented skin patches, Premature gr... |
ORPHA:163746 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Patent ductus arteriosu... |
OMIM:618188 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Microcephaly, Cryptorchidism, Hydrocephalus, Abnormal heart morphology |
ORPHA:1865 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cataract, Ataxia, Hypermelanotic macule, Optic atrophy, Uvei... |
ORPHA:90321 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Cryptorchidism, Hydrocephalus, Biparietal narrowing, Pulmonic st... |
ORPHA:1340 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Choreoathetosis, A... |
ORPHA:2131 |
Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Heparan sulfate excretion in urine, Hydrocephalus, Dermatan sulf... |
OMIM:253220 |
Cholestasis-Lymphedema Syndrome |
|
Abnormality of skin pigmentation, Hyperlipidemia, Abnormality of urine homeostasis |
ORPHA:1414 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi... |
OMIM:616959 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Elevated circulating creatinine concentration, Elevated circu... |
ORPHA:79126 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Ectopic kidney, Hydrocephalus, Coarctation of aorta, Agenesis of corpu... |
ORPHA:268249 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Subdural hemorrh... |
ORPHA:90324 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Hydrocephalus, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile aci... |
OMIM:619377 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Repetitive compulsive behavior, Optic atrophy, Elevated circulating glutaric acid concent... |
ORPHA:66634 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplastic aortic arc... |
ORPHA:457284 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Self-injurious behavior, Astigmatism, Compulsi... |
ORPHA:468678 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Hydronephrosis, Spina bifida |
ORPHA:2839 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Transient hypophosphatemia, Developmental cataract, Retinal calcification, Hyperphos... |
OMIM:127000 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Noncommunicating hydrocephalus |
OMIM:619320 |
Friedreich Ataxia |
|
Diabetes mellitus, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve condu... |
OMIM:229300 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus,... |
ORPHA:96121 |
Knobloch Syndrome |
|
Occipital encephalocele, Dextrocardia, Hydrocephalus, Patent ductus arteriosus, Vesicoureteral re... |
ORPHA:1571 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Nephrolithiasi... |
ORPHA:79259 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage |
ORPHA:85212 |
Tempi Syndrome |
|
Intracranial hemorrhage, Abnormality of the kidney, Telangiectasia |
ORPHA:284227 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Flat cornea, Cataract, Corneal opacity, Hypercalcemia, ... |
ORPHA:904 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Hydrocephalus, Bi... |
OMIM:609192 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism |
ORPHA:1237 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Abnormal peripheral nervous system morphology, Recurrent hypogl... |
ORPHA:79324 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Testicular adrenal rest tumor, Intracranial hemorrhage, Hypertens... |
ORPHA:90795 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma |
ORPHA:2510 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Achondroplasia |
|
Hydrocephalus, Macrocephaly |
ORPHA:15 |
Hermansky-Pudlak Syndrome 10 |
|
Ocular albinism, Albinism |
OMIM:617050 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Cardiac fibroma, Chiari malformation, Macrocephaly, Nephroblastoma, Ventriculomegaly |
ORPHA:77301 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism |
ORPHA:1352 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Internal hemorrhage, Abnorma... |
ORPHA:99826 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital stationary night blindness, Insulin-resistant diabetes mellitus, Abnormal optic disc m... |
ORPHA:293967 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hypospadias, Abnormal heart valve morphology, Ureteral obstruction, Hydrocephalus,... |
ORPHA:90652 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Cerebellar vermis hypoplasia, Hypospadias, Microcephaly, Cryptorchidism, Horseshoe kidney, Colpoc... |
OMIM:620083 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Renal hypoplasia... |
OMIM:269860 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Mydriasis |
OMIM:619351 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Hydrocephalus, Dermatan sulfate excretion in urine, Cardiomyopathy, Mitr... |
OMIM:253200 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypospadias, Hydrocephalus, Hypertension, Chiari malformation, Agenesis of corpus callosum, Ventr... |
OMIM:123790 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Right bundle branch block, Cereb... |
OMIM:618590 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Microcephaly, Conjugated hyperbilirubinemia, Decreased thalamic volu... |
ORPHA:168577 |
Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Subdural hemorrhage, Elevated circulating creatine kinase concentration |
OMIM:615368 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... |
ORPHA:580 |
Smith-Lemli-Opitz Syndrome |
|
Partial agenesis of the corpus callosum, Renal cyst, Chiari type I malformation, Hypoalbuminemia,... |
OMIM:270400 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Optic atrophy, Limb ataxia, Gait ataxia, Difficulty walking, Dysphagia |
ORPHA:98768 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Inability to walk, Optic atrophy, Hypokalemia, Hypocalcemia, ... |
OMIM:617913 |
Fanconi Anemia |
|
Atrial septal defect, Hypospadias, Spina bifida, Cryptorchidism, Patent ductus arteriosus, Azoosp... |
ORPHA:84 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Astigmatism, Optic atrophy, Dystonic gait, Vitiligo |
ORPHA:480898 |
Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Ketonuria, Glycosuria, Hypokalemia, Increased circ... |
ORPHA:466677 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Hydrocephalus, Abnormal renal morphology, Abnormal heart morphology |
OMIM:239300 |
Icf Syndrome |
|
Communicating hydrocephalus, Macrocephaly |
ORPHA:2268 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Bilateral renal... |
OMIM:617667 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Microcephaly, Cryptorchidism, Mitral valve prolapse, Mitral regurgit... |
ORPHA:2462 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Hyperpigmentation of the skin, Ataxia, Akinesia, Optic atrophy, Phonic... |
OMIM:234200 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Hurler Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Hydrocephalus, Cardiomyopathy, Hypertension, Mu... |
ORPHA:93473 |
Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Myocardial infarction, Hydrocephalu... |
ORPHA:54595 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Hypospadias, Dysplastic corpus callosum, Cryptorchidism, Colpocephaly, Chordee, Secondary microce... |
OMIM:618820 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Abnormal optic disc morphology |
OMIM:617516 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Hypocalcemia, Atrial septal defect, Vesicoureteral reflux, Hypos... |
ORPHA:567 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Gaucher Disease |
|
Abnormal bleeding, Mitral valve calcification, Proteinuria, Abnormal pericardium morphology, Elev... |
ORPHA:355 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Patent ductus arteriosus, Chiari malformation, Atrial septal defect, Bruising susc... |
OMIM:618162 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at... |
OMIM:608594 |
Warburg Micro Syndrome 2 |
|
Microcornea, Cataract, Optic atrophy, Developmental cataract |
OMIM:614225 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Optic disc pallor, Diabetes mellitus, Ataxia, Hypoglycemia, Optic neuro... |
ORPHA:2609 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Microcephaly, Hydrocephalus, Renal hypoplasia, Azotemia, Micropenis, Decreased testicular size, C... |
OMIM:619321 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cataract, Optic atrophy, Ataxia, Gait ataxia |
ORPHA:543470 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium co... |
ORPHA:275761 |
Cardiofaciocutaneous Syndrome 1 |
|
Relative macrocephaly, Hydrocephalus, Pulmonic stenosis, Macrocephaly, Atrial septal defect, Hype... |
OMIM:115150 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Chiari type I malform... |
OMIM:101200 |
Meester-Loeys Syndrome |
|
Relative macrocephaly, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneur... |
OMIM:300989 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hydrocephalus, Chylopericard... |
ORPHA:538 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Cataract, Hyperpigmentation of the skin |
ORPHA:90153 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia |
OMIM:307030 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Patent foramen ovale, Cryptorchidism, Colpocephaly, Chordee, Macrocephaly, Enlarged ... |
ORPHA:477993 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Macrocephaly, Dandy-Walker malformati... |
OMIM:605627 |
Apert Syndrome |
|
Hydrocephalus, Hypertension, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:87 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Hyperinsulinemia, Insulin-resistant diabetes melli... |
OMIM:269700 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Macrocephal... |
ORPHA:109 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Jacobsen Syndrome |
|
Hypospadias, Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosence... |
OMIM:147791 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... |
ORPHA:2298 |
Pfeiffer Syndrome |
|
Hydrocephalus, Chiari malformation |
OMIM:101600 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Hydrocephalus, Abnormal renal morphology |
OMIM:207410 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... |
ORPHA:100078 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Hydrocephalus, Microcephaly |
ORPHA:220295 |
Orofaciodigital Syndrome I |
|
Proteinuria, Microcephaly, Hydrocephalus, Myelomeningocele, Abnormal heart morphology, Hypertensi... |
OMIM:311200 |
Craniotubular Dysplasia, Ikegawa Type |
|
Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis |
OMIM:619727 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Hypercalcemia, Retinal arteriolar tortuosity, Blue irides, Premature graying o... |
OMIM:194050 |
Cat Eye Syndrome |
|
Atrial septal defect, Renal agenesis, Ventricular septal defect, Patent ductus arteriosus, Horses... |
OMIM:115470 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Papilledema, Pterygium, Iris coloboma |
ORPHA:371428 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Anorexia, Ectopia lentis, Opti... |
ORPHA:394 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hydroureter, Lacrimal duct stenosis, Urethral stenosis, Megacystis, Blue irides, Bladder divertic... |
OMIM:604292 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase co... |
OMIM:607426 |
Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, Abnormal sperm morphology, Abnormality of the kidney, Broad sk... |
ORPHA:228123 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Geleophysic Dysplasia 2 |
|
Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve stenosis, Pulmonary... |
OMIM:614185 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cerulean cataract, ... |
ORPHA:67036 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Glycosuria |
ORPHA:436271 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... |
OMIM:608612 |
Glycogen Storage Disease Ib |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Xanthelasma, Hy... |
OMIM:232220 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Hypouricemia, Ataxia, Optic atrophy, Abnormality of so... |
ORPHA:1187 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Microcephaly, Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Chiari type I malformation, A... |
OMIM:182212 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Microcephaly, Venous insufficiency, Arterial stenosis, Intracranial ... |
ORPHA:565 |
Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:612291 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Heparan sulfate excretion in urine, Hydrocephalus, Atrioventricular block, Mucopoly... |
ORPHA:581 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... |
OMIM:606519 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
Cockayne Syndrome |
|
Progressive gait ataxia, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Reti... |
ORPHA:191 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Chiari malformation |
ORPHA:93259 |
Opitz-Kaveggia Syndrome |
|
Relative macrocephaly, Hypospadias, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus... |
OMIM:305450 |
Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Microcephaly, Situs inversus t... |
ORPHA:564 |
Costello Syndrome |
|
Renal insufficiency, Ventricular septal defect, Hydrocephalus, Mitral valve prolapse, Chiari type... |
OMIM:218040 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Steppage gait, Ga... |
ORPHA:101076 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia |
OMIM:610217 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Hydronephrosis, Macrocephaly |
OMIM:260660 |
Holoprosencephaly 7 |
|
Microcephaly, Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, L... |
OMIM:610828 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Difficulty walking, Abnormal circulating creatine kinase... |
ORPHA:98908 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Hydrocephalus, Pulmonary artery stenosis, Hypophosphatemia, ... |
ORPHA:667 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephal... |
OMIM:610829 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus |
OMIM:224400 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Hydrocephalus, Myelomeningocele, Meningocele, Dermal sinus trac... |
OMIM:600145 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Normal pressure hydrocephalus, Mildly elevated creatine kinase, Bradycardia |
OMIM:620351 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Subarachnoid hemorrhage |
OMIM:243700 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R... |
OMIM:259900 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Cataract, Optic atrophy, Abnormality iris morphology, Microcornea |
ORPHA:2710 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis, Macrocephaly |
OMIM:162200 |
Iniencephaly |
|
Encephalocele, Renal agenesis, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal... |
ORPHA:63259 |
Alexander Disease |
|
Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Hypertension, Hypotension, Macrocephaly... |
ORPHA:58 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Mitral valve prolapse, Aortic root aneurysm, ... |
OMIM:245600 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Xfe Progeroid Syndrome |
|
Optic atrophy, Hypoalbuminemia, Corneal scarring, Attenuation of retinal blood vessels |
OMIM:610965 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair |
OMIM:608233 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hemog... |
ORPHA:90038 |
Yellow Fever |
|
Abnormal bleeding, Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase conce... |
ORPHA:99829 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
Aymé-Gripp Syndrome |
|
Pericarditis, Proteinuria, Pericardial effusion, Cryptorchidism, Hydrocephalus, Patent ductus art... |
ORPHA:1272 |
Raine Syndrome |
|
Hydroureter, Microcephaly, Hydrocephalus, Hypophosphatemia, Hydronephrosis |
OMIM:259775 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Hyd... |
OMIM:258040 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Stage ... |
ORPHA:805 |
Choreoacanthocytosis |
|
Lateral ventricle dilatation, Dilated cardiomyopathy, Elevated circulating creatine kinase concen... |
ORPHA:2388 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100006 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Absent outer dynein arms, Situs inversus totalis |
OMIM:244400 |
Vacterl With Hydrocephalus |
|
Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Cryptorchidism, Hydr... |
ORPHA:3412 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Pericarditis, Juxtaductal coarctation of the... |
ORPHA:3310 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, Ab... |
ORPHA:363700 |
Biotinidase Deficiency |
|
Conjunctivitis, Ataxia, Optic atrophy, Hyperammonemia |
OMIM:253260 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Ventricular septal defect, Partial agenesis of the corpus callosum,... |
OMIM:300373 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension, Hydrocephalus, Cryptorchidism |
ORPHA:1555 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... |
ORPHA:536545 |
Fabry Disease |
|
Conjunctival telangiectasia, Renal insufficiency, Cataract, Corneal opacity, Corneal dystrophy, P... |
ORPHA:324 |
Mend Syndrome |
|
Cryptorchidism, Elevated 8-dehydrocholesterol, Hydrocephalus, Elevated 8(9)-cholestenol, Abnormal... |
ORPHA:401973 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Crossed fused renal ectopia, Dandy-Walker m... |
OMIM:300960 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Chiari type I malformation, Atrial septal defect, Vesicoureteral reflux, P... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Chiari type I malformation, Atrial septal defect, Vesicoureteral reflux, P... |
ORPHA:353277 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocele testis, Hydrocephalus, Spina bifida, Microcephaly |
OMIM:613776 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Optic disc coloboma, Renal hypoplasia, Microcornea, Ciliary body colobo... |
OMIM:309800 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Prolonged prothrombin time, Hypotension, Acute ... |
ORPHA:244242 |
Oculoectodermal Syndrome |
|
Hyperactivity, Chorioretinal atrophy, Hyperpigmented streaks, Microcornea, Astigmatism, Opacifica... |
OMIM:600268 |
Sandhoff Disease, Infantile Form |
|
Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Mitral valve prolapse, Mitral r... |
ORPHA:309155 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... |
OMIM:253280 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Dysuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcin... |
ORPHA:93598 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity, Optic disc hypoplasia, Hypertriglyceridemia, Ataxia, Optic atrophy, Pi... |
ORPHA:3455 |
Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Nephrot... |
ORPHA:29073 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Retinal vascular proliferation, Keratitis,... |
OMIM:308300 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Cerebellar hypoplasia, Micropenis |
OMIM:614083 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hydroureter, Blue irides, Bladder diverticulum, Ureterocele, Vesicoureteral reflux, Generalized h... |
OMIM:129900 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve... |
ORPHA:909 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Developmental cataract, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetan... |
ORPHA:93325 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:1507 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Unilateral renal agenesis, Mitral valve prolapse, Vesicoureteral reflu... |
OMIM:606408 |
Multiple System Atrophy 1, Susceptibility To |
|
Urinary urgency, Iris atrophy, Urinary incontinence |
OMIM:146500 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c |
OMIM:619127 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Self-injurious behavior, Hyperlipidemia |
ORPHA:254346 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Hypospadias, Abnormal pulmonary valve morph... |
ORPHA:500 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Mitral stenosis, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus,... |
ORPHA:955 |
Achondroplasia |
|
Hydrocephalus, Macrocephaly |
OMIM:100800 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Thoracic aortic aneurysm, Hydrocephalus, Mitral valve prolapse, Ascending tubular... |
ORPHA:536467 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... |
ORPHA:1435 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100008 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Optic atrophy, Type II diabetes mellitus, Ataxia |
OMIM:604121 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Microcephaly, Congestive heart failure, Renal hypo... |
OMIM:105650 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:248370 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Aqueductal stenosis, Hydrocep... |
OMIM:154400 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Hydroce... |
ORPHA:2072 |
Peroxisome Biogenesis Disorder 4B |
|
Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, ... |
OMIM:614863 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Microc... |
ORPHA:709 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Patent ductus... |
OMIM:602535 |
Biotinidase Deficiency |
|
Ataxia, Optic neuropathy, Optic atrophy, Hyperammonemia, Conjunctivitis |
ORPHA:79241 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hydrocephalus, Telangiectasia of the skin, Decreased response to growth hormone stimulation test |
OMIM:616007 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, ... |
OMIM:102500 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara... |
ORPHA:139417 |
Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Macrocephaly |
OMIM:109400 |
Witteveen-Kolk Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph... |
OMIM:613406 |
6Q Terminal Deletion Syndrome |
|
Hypospadias, Phimosis, Colpocephaly, Cerebellar hypoplasia, Macrocephaly |
ORPHA:75857 |
Legius Syndrome |
|
Inguinal freckling, Cataract, Hyperactivity, Axillary freckling, Neurofibroma, Xanthelasma, Vesti... |
ORPHA:137605 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Hypospadias, Abnormal pupil morphology, Cystocele, Renovascular hypertension, Melano... |
ORPHA:286 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Cerebellar atrophy, Ventriculomegaly, Macrocephaly |
OMIM:617011 |
Wolfram Syndrome 2 |
|
Diabetes mellitus, Optic atrophy, Optic neuropathy |
OMIM:604928 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a... |
OMIM:259770 |
Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Optic atrophy |
OMIM:201180 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... |
ORPHA:217085 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara... |
ORPHA:744 |
Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... |
ORPHA:3260 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... |
ORPHA:217093 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Gastrointestinal hemorrhage, Renal insufficiency, Elevated circulating alpha-fe... |
OMIM:276700 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Microcephaly, ... |
ORPHA:420741 |
Dubowitz Syndrome |
|
Hypospadias, Microcephaly, Cryptorchidism, Hydrocephalus, Spina bifida occulta, Hydronephrosis |
ORPHA:235 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Segmental peripheral demyelination/remyelination, Low plasma citrulline, Optic atrophy, G... |
ORPHA:255210 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Microcephaly, Cryptorchidism, Patent... |
OMIM:616682 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... |
ORPHA:573278 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Optic atrophy, Head-banging, Developmen... |
ORPHA:86309 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Hypospadias, Long penis, Hypertriglyceridemia |
OMIM:264090 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage |
OMIM:618480 |
Limb Body Wall Complex |
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Encephalocele, Ventricular septal defect, Abnormality of the kidney, Spina bifida, Hydrocephalus,... |
ORPHA:2369 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Gluco... |
ORPHA:189427 |
Pseudoaminopterin Syndrome |
|
Cryptorchidism, Hydrocephalus, Horseshoe kidney, Macrocephaly, Patent foramen ovale |
ORPHA:221120 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Microcephaly, Patent ductus arteriosus, Interrupte... |
OMIM:164280 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Hyperammonemia, Intracranial hemorrhage, P... |
ORPHA:90062 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Abnormal heart morpholog... |
ORPHA:97360 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, Epispadias, Hydrocephalus, Cryptorchidism, Macrocephaly, ... |
ORPHA:2658 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Microcephaly... |
OMIM:619475 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Cerebellar hypoplasia, Macrocephaly, Micropenis, Ventriculomegaly |
ORPHA:457359 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Recurrent urinary tract infections, Crossed fused renal ectopia, Hyp... |
OMIM:619841 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... |
OMIM:608328 |
Leptospirosis |
|
Papilledema, Anorexia, Retinal hemorrhage, Uveitis, Chorioretinitis, Hyperproteinemia, Optic neur... |
ORPHA:509 |
1P36 Deletion Syndrome |
|
Cataract, Optic atrophy, Ocular albinism, Polyphagia, Self-injurious behavior, Gait disturbance, ... |
ORPHA:1606 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Hyperpigmentation of the skin |
ORPHA:90154 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Renal insufficiency, Proteinuria, Microcephaly, Cryptorchidism, Hypertension,... |
OMIM:216400 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Remnants of the hyaloid vascular system |
OMIM:620185 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Abnormal hear... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Abnormal hear... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Abnormal hear... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Abnormal hear... |
ORPHA:93924 |
Primary Hyperoxaluria |
|
Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Optic atrophy, Retinopathy |
ORPHA:416 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Hypotension |
ORPHA:100079 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Cryptorch... |
ORPHA:95699 |
Geleophysic Dysplasia 1 |
|
Congestive heart failure, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis |
OMIM:231050 |
Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hydrocephalus, Renovascular... |
ORPHA:3472 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Cerebellar vermis hypoplasia, Bicuspid aortic ... |
OMIM:612289 |
Sponastrime Dysplasia |
|
Microcoria, Cataract, Hypospadias, Congenital aphakia |
ORPHA:93357 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral va... |
OMIM:107480 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Subdural hemorrhage, Cerebral hemorrhage |
OMIM:620278 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Cerebellar atrophy, Recurrent urinary tract infections, Aortic regur... |
ORPHA:309282 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Abnormal ... |
ORPHA:508498 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
Fraser Syndrome 1 |
|
Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Microcephaly, Cryptorchidism, Hydrocephalus... |
OMIM:219000 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Macrocephaly, Subdural hemorrhage, Microcephaly |
OMIM:619714 |
Campomelic Dysplasia |
|
Relative macrocephaly, Hypospadias, Spina bifida, Hydrocephalus, Abnormal heart morphology, Spina... |
OMIM:114290 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Rod-cone dystrophy, Optic atrophy |
OMIM:601539 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Ramon Syndrome |
|
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
Alström Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy... |
ORPHA:64 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Cryptorchidism, Hydrocephalus, Horseshoe kidney |
ORPHA:1106 |
Full Nf2-Related Schwannomatosis |
|
Retinal hamartoma, Remnants of the hyaloid vascular system, Abnormal optic nerve morphology, Epir... |
ORPHA:637 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Cataract, Astigmatism, Tip-toe gait, Self-mutilation, Hyperpigmentation of the... |
OMIM:619268 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Microcephaly, Cryptorchidism, Colpocepha... |
OMIM:606170 |
Tetraamelia Syndrome 1 |
|
Urethral atresia, Hydrocephalus, Renal agenesis |
OMIM:273395 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
Pmm2-Cdg |
|
Pericarditis, Cerebellar vermis hypoplasia, Proteinuria, Angina pectoris, Elevated circulating gr... |
ORPHA:79318 |
Leopard Syndrome 1 |
|
Bundle branch block, Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defe... |
OMIM:151100 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Focal segmental glomerulosclerosis, ... |
OMIM:232240 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephal... |
OMIM:312870 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurious behavior, Abnorma... |
ORPHA:293987 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Ventricular septal defect, Microcephaly, Cryptorchidism, Hydro... |
OMIM:261540 |
Coffin-Siris Syndrome 12 |
|
Hypospadias, Microcephaly, Patent foramen ovale, Cryptorchidism, Noncommunicating hydrocephalus, ... |
OMIM:619325 |
Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Cerebellar calcifications, Microcephaly, Cryptorchidism, Hypert... |
OMIM:133540 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Seve... |
OMIM:236680 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ... |
OMIM:617107 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Microcephaly, Cryptorchidism, Hydrocephalus, Myelomeningocele, Spina bifida... |
OMIM:305600 |
Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Plague |
|
Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect,... |
OMIM:164210 |
Aromatase Deficiency |
|
Insulin resistance, Hyperlipidemia, Type II diabetes mellitus |
ORPHA:91 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephalus, Long penis, ... |
OMIM:268300 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Atrial septal defect, Dilatation of the... |
OMIM:304120 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
Baller-Gerold Syndrome |
|
Abnormality of the kidney, Hydrocephalus, Abnormal heart morphology, Chiari malformation, Spina b... |
OMIM:218600 |
Fetal Akinesia Deformation Sequence 1 |
|
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia |
OMIM:208150 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus |
ORPHA:3042 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia, Diabetes mellitus |
OMIM:241080 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:300166 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia |
ORPHA:3464 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy |
ORPHA:391665 |