Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Retinal dysplasia, Cerebellar dysplasia |
OMIM:615041 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Premature birth, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrocephalu... |
OMIM:269920 |
Mulibrey Nanism |
|
Hepatomegaly, Frontal bossing, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydro... |
OMIM:253250 |
Congenital Heart Block |
|
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... |
ORPHA:60041 |
Lambert Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
Sialidosis Type 2 |
|
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Hydrops fetalis, Pedal ... |
ORPHA:87876 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Cardiomegaly, Short neck, Flexion contracture, Brachycephaly, Hydrops fetalis, La... |
OMIM:616897 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardi... |
OMIM:618815 |
Diprosopus |
|
External ear malformation, Abnormality of retinal pigmentation, Abnormal cardiac septum morpholog... |
ORPHA:1681 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Micromelia, Short neck, Postaxial polydactyly, Polyhydramnios, Hydr... |
OMIM:616546 |
Nuchal Bleb, Familial |
|
Stillbirth, Cystic hygroma, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Cardiomyopathy, Abnor... |
OMIM:608540 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Pigmentary retinopathy, Hepatomegaly |
OMIM:609016 |
Trisomy 13 |
|
Ventricular septal defect, Abnormal retinal vascular morphology, Calvarial skull defect, Patent d... |
ORPHA:3378 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Frontal bossing, Micromelia, Short neck, Polyhydramnios, Hydrops feta... |
ORPHA:93298 |
Achondrogenesis |
|
Thickened nuchal skin fold, Frontal bossing, Micromelia, Short neck, Polyhydramnios, Hydrops feta... |
ORPHA:932 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Frontal bossing, Micromelia, Short neck, Polyhydramnios, Hydrops feta... |
ORPHA:93299 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Optic nerve hypoplasia, Short neck, Clinodactyly, Colo... |
OMIM:615583 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Premature birth, Cardiomegaly, Hydrocephalus, ... |
ORPHA:858 |
Trisomy 1Q |
|
Frontal bossing, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Camptodactyly of fing... |
ORPHA:261344 |
Mosaic Trisomy 9 |
|
Micromelia, Short neck, Polyhydramnios, Hydrops fetalis, Finger clinodactyly, Biparietal narrowin... |
ORPHA:99776 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrocephalus... |
ORPHA:163596 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C... |
ORPHA:2414 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Pulmonary arteria... |
OMIM:619003 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Facial edema, Splenomegaly, Sensorineural he... |
OMIM:256550 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive c... |
OMIM:619433 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Sandal gap, Ventricular septal defect, Dilated cardiomyopath... |
ORPHA:2515 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Micromelia, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical he... |
OMIM:600972 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hypoplasia of the pons, Coloboma, Hypoplasia of the brainstem, Agenesis ... |
ORPHA:370959 |
Holoprosencephaly |
|
Flat occiput, Congenital diaphragmatic hernia, Short neck, Holoprosencephaly, Chorioretinal colob... |
ORPHA:2162 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Posteriorly rotated ears, Micromelia, Short neck, Bowing of the legs, Hydrocephalu... |
ORPHA:1865 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Increased nuchal translucency... |
ORPHA:453499 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Conductive hearing impairment, Sensorineural hearing impairmen... |
ORPHA:1131 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, P... |
ORPHA:90308 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Atrial sep... |
ORPHA:101028 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Retinal pigment epithelial mottling, Iron accumulation in ... |
OMIM:619389 |
Joubert Syndrome 15 |
|
Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Molar tooth sign on MRI, Retinopathy |
OMIM:614464 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellar vermis, ... |
ORPHA:65 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Abnormal limb bone morphology, Hydrops fetalis, Limb ... |
ORPHA:2204 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Skeletal muscle atrophy, Edema, Portal hypertension, Polyhydramnios, Hy... |
OMIM:232500 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Upper limb undergrowth, Polyhydramnios |
OMIM:613124 |
Gm1 Gangliosidosis |
|
Hydrops fetalis, Cherry red spot of the macula, Premature birth, Patent ductus arteriosus, Hepato... |
ORPHA:354 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Frontal bossing, Optic atrophy, Brachycephaly, Pigmentary retinopathy, Bilateral se... |
OMIM:264470 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Frontal bossing, Abnormal heart valve morphology, Short neck, Congestive heart fail... |
OMIM:230500 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger, Short neck, Sensorineural hearing i... |
ORPHA:1466 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Coloboma, Retinal dysplasia, Cerebellar malformation, Con... |
ORPHA:324416 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Short neck, Brachycephaly, Clinodactyly of the 5th finger, Atrial septal defect, Patent foramen o... |
OMIM:612582 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Brachycephal... |
OMIM:220210 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Colobom... |
OMIM:613153 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Posteriorly rotated ears,... |
OMIM:614424 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Redundant neck skin, Ventricular septal defect, Cardiomegaly, Abnormal c... |
OMIM:618652 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
Fetal Gaucher Disease |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Decreased fetal movement, Fetal akinesia sequenc... |
ORPHA:85212 |
Ring Chromosome 14 Syndrome |
|
Flat occiput, Short neck, Pigmentary retinopathy, Low-set ears, Dolichocephaly |
OMIM:616606 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Micromelia, Polyhydramnios, Fetal ascites, Flared metaphysis, Advanced ossificat... |
OMIM:215045 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Abnorm... |
OMIM:309900 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Diffuse cerebellar atrophy, Nonimmune hydrops fetalis, Hearing impairment |
ORPHA:477774 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Ragged-red muscle fibers, Pigmentary ... |
OMIM:252011 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia |
ORPHA:2246 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Short neck, Metatarsus adductus, ... |
OMIM:253220 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Pigmentary retinopathy, Hammertoe, Hearing impairment |
OMIM:619090 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Bull's eye maculopathy, Nonimmune ... |
OMIM:620167 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Centrally nuclea... |
OMIM:255320 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Ventricular septal defect... |
ORPHA:3380 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Dilated cardiomyopathy, Rhabdomyolysis, Hydrops fetalis, Pigmentary ret... |
OMIM:609015 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Pigmentary retinopathy, M... |
OMIM:618234 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Pigmentary retinopathy, Optic atrophy, Retinopathy |
OMIM:610951 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, F... |
OMIM:617022 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Protruding ear, Coloboma, Abnormal optic nerve morphology, Conductive hear... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Protruding ear, Coloboma, Abnormal optic nerve morphology, Conductive hear... |
ORPHA:352665 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Distal 22Q11.2 Microduplication Syndrome |
|
Protruding ear, Biparietal narrowing, Camptodactyly of toe, Branchial fistula, Tricuspid regurgit... |
ORPHA:261337 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Cerebellar vermis hypoplasi... |
ORPHA:370968 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Polydactyly, Attenuation of retinal ... |
OMIM:615990 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis... |
ORPHA:834 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cerebellar vermis hypoplasia, Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Pig... |
OMIM:613156 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage,... |
ORPHA:79282 |
Alg3-Cdg |
|
Abnormal pinna morphology, Hypoplasia of the pons, Metaphyseal chondrodysplasia, Abnormal limb bo... |
ORPHA:79321 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Nonimmune hydrops fetalis, Portal hypertension, Polyhydram... |
ORPHA:367 |
Oligomeganephronia |
|
Branchial cyst, Premature birth, Congenital diaphragmatic hernia, Secundum atrial septal defect, ... |
ORPHA:2260 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites |
ORPHA:2123 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Hydrops fetalis, Micro... |
ORPHA:268249 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... |
ORPHA:292 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Pigmentary retinop... |
ORPHA:329336 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Posteriorly rotated ears, Left atria... |
OMIM:300280 |
Joubert Syndrome 16 |
|
Encephalocele, Retinal dystrophy, Coloboma, Polydactyly, Molar tooth sign on MRI, Dandy-Walker ma... |
OMIM:614465 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal left ventricu... |
ORPHA:2041 |
Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Postaxial hand polydactyly, Anterior basal encephalocele, Coloboma... |
OMIM:136760 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Umbilical hernia, Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Cutaneous finger syndactyly, Short palm, Conductive hearing impair... |
OMIM:235510 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Sensorineural hearing impairment, Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Alg8-Cdg |
|
Premature birth, Edema, Optic atrophy, Hydrops fetalis, Oligohydramnios, Macroglossia, Talipes eq... |
ORPHA:79325 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... |
ORPHA:272 |
Alg9-Cdg |
|
Short neck, Brachycephaly, Hydrops fetalis, Right ventricular dilatation, Large fleshy ears, Abno... |
ORPHA:79328 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation, Myopathy |
ORPHA:2579 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Posteriorly rotated ears, Patent du... |
ORPHA:79329 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Hydrocephalus, Macrotia, Cardiomegaly |
OMIM:300886 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... |
OMIM:614096 |
Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Pigmentary retinopathy, Lateral ventricle dilata... |
OMIM:608629 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Ventricular septal... |
OMIM:617751 |
Gm1 Gangliosidosis Type 1 |
|
Frontal bossing, Broad long bone diaphyses, Cherry red spot of the macula, Hydrops fetalis, Hepat... |
ORPHA:79255 |
Fibrochondrogenesis 1 |
|
Frontal bossing, Abnormal pinna morphology, Rhizomelia, Dumbbell-shaped long bone, Short neck, Sm... |
OMIM:228520 |
Achondrogenesis, Type Ii |
|
Frontal bossing, Edema, Short tubular bones of the hand, Polyhydramnios, Brachycephaly, Hydrops f... |
OMIM:200610 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of the pons, Sensorineural hearing impairment, Op... |
ORPHA:1493 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Schneckenbecken Dysplasia |
|
Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Short neck, Polyhydramnios, Advanced ossifi... |
OMIM:269250 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Ankle flexion contracture, Tapered finger, Sensorineural heari... |
ORPHA:435938 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... |
ORPHA:3405 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Polyhydramnios, Cardiomegaly, A... |
ORPHA:3472 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Polyhydramnios, Conductive hearing impairment, Severe sensorineural hearing impai... |
OMIM:620186 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoplasia of the pons, Hydrops fetalis, Cardiomyopathy, Cerebellar hypoplasia, Muscular dystrophy |
ORPHA:88618 |
Cln3 Disease |
|
Cerebellar atrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, T-wave inversi... |
ORPHA:228346 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Anterior encephalocele, Coloboma, Foot oligodactyly, Holo... |
OMIM:601357 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Tachycardia, Abnormal heart morphology, Pigmentary retinop... |
ORPHA:79264 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Distal amyotrophy, Retinal degeneration |
OMIM:275400 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Ragged-red muscle fibers, Third deg... |
ORPHA:480 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, Bradycardia, Hypertrophic ca... |
OMIM:614702 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Palpebral edema, Prominent occiput, Abnormal helix morpholog... |
ORPHA:1259 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Myopathy |
OMIM:551500 |
Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Short neck... |
OMIM:239850 |
Greenberg Dysplasia |
|
Micromelia, Polyhydramnios, Hydrops fetalis, Hypoplasia of the calcaneus, Neonatal death, Short p... |
OMIM:215140 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Hepatomegaly, Pericarditis, Cerebellar vermis hypoplasia, Dilated fourth vent... |
OMIM:212065 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Short neck, Hydrops fetalis, Atrial septal defect, Patent foramen ovale, Simple e... |
OMIM:613610 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Retinal dystrophy... |
ORPHA:220493 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Short neck, Breech pr... |
OMIM:300868 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Hypertension, Coloboma, Chorioretinal coloboma, Mola... |
OMIM:619111 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Splenomegaly, Paten... |
ORPHA:290 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Bowing of the long bones, Toe syndactyly, Ventricular se... |
ORPHA:261330 |
Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Micromelia, Lymphedema, Hydrops fetalis, Clubbing of toes... |
ORPHA:1318 |
Lymphatic Malformation 6 |
|
Generalized edema, Genital edema, Abnormal pinna morphology, Nonimmune hydrops fetalis, Edema, Ly... |
OMIM:616843 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Hydrocephalus, Apl... |
ORPHA:1926 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri... |
ORPHA:57777 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret... |
OMIM:617879 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Hypoplasia of the brainstem, Dandy-Walker malformation, Cerebellar dysplasia, Pericardial ... |
OMIM:617822 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Brachycephaly, Tibial bowing, ... |
ORPHA:175 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Hypoplasia of the pons, Brachyce... |
OMIM:618736 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Turricephaly, Dandy-Walker malformation, Craniosynostosis, Parietal foramina,... |
OMIM:616602 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hydrocephalus, Optic atrophy, Brachycephaly, Hypopigmented skin pa... |
ORPHA:207 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, Atrial septal... |
OMIM:620135 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Protruding ear, Abnormal tricuspid valve morphology, Aplasia/Hypoplasia ... |
ORPHA:192 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Frontal bossing, Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud... |
OMIM:113650 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Cerebellar vermis hypoplasia, Retinal dystrop... |
OMIM:263520 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Turricephaly, Micromelia, Short neck, Bowing of the legs,... |
OMIM:200600 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Mucopolysaccharidosis Type 7 |
|
Short neck, Metatarsus adductus, Splenomegaly, Lymphedema, Hydrops fetalis, Umbilical hernia, Asc... |
ORPHA:584 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Sensorineural hearing impairment, Increased variabil... |
OMIM:619473 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Short neck, Aplasia of the ulna, Abnormal ti... |
ORPHA:2879 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Cerebellar atrophy, Bicuspid aortic valve, Ventricular septal defect, Slender finger, Patent duct... |
ORPHA:329224 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:614500 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, Abnormality of the musculature of the limbs, Hi... |
ORPHA:137667 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormal retinal vascular... |
ORPHA:1390 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Polyhydramnios, Short neck, Fetal akinesia sequence, Co... |
OMIM:208150 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Ventricular sep... |
OMIM:614815 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Bowing of the long bones, Micromelia, Dolichocephaly, Postaxial polyda... |
OMIM:614091 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Fundus atrophy, Absent foveal reflex, Pigmentary... |
OMIM:204100 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Attrv30M Amyloidosis |
|
Vitreous floaters, Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Ventricular septal defect... |
OMIM:611134 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:608013 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Short neck, Brachycephaly, Plagiocephaly, Coloboma, Macroglossia, Transposition ... |
OMIM:616789 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis, Craniosynostosis, Plagiocephaly, Decreased calvarial ossification, Tri... |
OMIM:618265 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Arrhythmia, Skeletal muscle atr... |
ORPHA:96 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Hearing impairment, Cardiomegaly |
OMIM:618838 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Edema, Retinal pigment epithelial mottling, Chorioretinal... |
ORPHA:448237 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Micromelia, Polyhydramnios, Abnormal carpal morphology, Hydrops fetalis... |
ORPHA:85166 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Conductive hearing impairment, Sensorineural hearing impairment, Short toe, Ulnar... |
ORPHA:921 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Hepatomegaly, Frontal bossing, Decreased fetal movement, Edema, Short neck, P... |
OMIM:608776 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Hearing impairment |
OMIM:618839 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Flexion contracture, Cerebellar hypoplasia, Molar tooth sign on MRI, Ret... |
OMIM:617562 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Brachycephaly, Atrial septal defec... |
OMIM:265380 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Brachycephal... |
OMIM:218350 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Hypertrophic cardiomyopathy, Hearing ... |
OMIM:618835 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Unilateral deafness, Patent ductus arteriosus, Retinopathy... |
OMIM:620244 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Congenital Myopathy 22B, Severe Fetal |
|
Polyhydramnios, Short neck, Flexion contracture, Generalized amyotrophy, Hepatomegaly, Scapular w... |
OMIM:620369 |
Senior-Loken Syndrome |
|
Hypertension, Retinal dystrophy, Abnormality of retinal pigmentation |
ORPHA:3156 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Decreased muscle mass, Arachnodactyly, Absent phalangeal cre... |
OMIM:108145 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Olivopontocerebellar atrophy, Pigmentary retinopathy |
OMIM:164500 |
15Q24 Microdeletion Syndrome |
|
Brachydactyly, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morph... |
ORPHA:94065 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Telangiectasia of the skin, Senso... |
ORPHA:3019 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Micromelia, Short neck, Finger clinodactyly, Clinodactyly of the 5th finger, Atri... |
ORPHA:508488 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigmentary ret... |
OMIM:204000 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... |
ORPHA:69735 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretin... |
ORPHA:5 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Short metacarpal, Skeletal muscle atrophy, Heart block, Sple... |
ORPHA:773 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment... |
OMIM:266500 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Abnormal cerebellum morphology, Upper limb muscle weakness, Pigmentary retinopathy, Distal amyotr... |
ORPHA:100996 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:1908 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Bowing of the long bones, Hearing impairment, Cranial hypero... |
ORPHA:2801 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Turricephaly, Palpebral edema, Metatarsus adductus, Brushfield spots, Optic nerve d... |
OMIM:214110 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Short neck, Congestive... |
ORPHA:505248 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Brachydactyly, Craniosynostosis, Coxa valga, Brachycephaly, ... |
ORPHA:2163 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, Brachycephaly, Conductive hearing ... |
OMIM:201000 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Frontal bossing, Ulnar deviation of the hand, ... |
OMIM:614175 |
Osteogenesis Imperfecta, Type Ii |
|
Premature birth, Nonimmune hydrops fetalis, Absent ossification of calvaria, Congestive heart fai... |
OMIM:166210 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgi... |
OMIM:212140 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Frontal bossing, Patent ductus arteriosus, Brachycephaly, Micro... |
ORPHA:861 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Sensorineural hearing impairment, Atresia of the external audito... |
ORPHA:52429 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Hepatomegaly, Cerebellar vermis hypoplasia, Optic disc pa... |
OMIM:216360 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr... |
OMIM:306955 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Abnormal tricuspid valve morphology, Conductive hearing impairment, ... |
ORPHA:580 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... |
OMIM:616108 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Atrial septal defect, Agenesis of corpus callosum, Hepatomegaly, Tricuspid regurgitation, Brushfi... |
OMIM:614866 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Sensorineural hearing ... |
ORPHA:791 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... |
OMIM:265000 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Turricephaly, Craniosynostosis, Aqueductal stenosis, Agenesi... |
ORPHA:1496 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... |
ORPHA:355 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Finger joint hypermobility, Atrial se... |
ORPHA:363705 |
Cohen Syndrome |
|
Finger syndactyly, Chorioretinal dystrophy, Abnormality of retinal pigmentation, Ventricular sept... |
ORPHA:193 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Flexion contracture, Atrioventricular block, Thickened helices, Conductive hearing ... |
ORPHA:581 |
Joubert Syndrome 8 |
|
Occipital encephalocele, Optic disc pallor, Hepatomegaly, Pigmentary retinopathy, Molar tooth sig... |
OMIM:612291 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Hydrops fetalis |
ORPHA:766 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Sensorineural hearing impairment, Short ... |
ORPHA:3085 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Frontal bossing, Micromelia, Cardiomegaly, Short neck, Wide distal femoral metaphysis, Hypertensi... |
OMIM:613320 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Slc35A2-Cdg |
|
Thickened nuchal skin fold, Cerebellar atrophy, Limb joint contracture, Abnormal midbrain morphol... |
ORPHA:356961 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... |
OMIM:309801 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Retinal dystrophy... |
ORPHA:2318 |
Joubert Syndrome 2 |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Retinal dystrophy, Brainstem dyspl... |
OMIM:608091 |
Joubert Syndrome 1 |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplas... |
OMIM:213300 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo... |
OMIM:617102 |
Narp Syndrome |
|
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone d... |
ORPHA:644 |
Alpha-Thalassemia |
|
Splenomegaly, Hydrops fetalis |
ORPHA:846 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Eem Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Ectrodactyly, Macular dystrophy, Retinopathy |
ORPHA:1897 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Frontal bossing, Cardiomegaly |
OMIM:619064 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Farber Disease |
|
Skeletal muscle atrophy, Short toe, Flexion contracture, Hydrops fetalis, Hepatosplenomegaly, Mac... |
ORPHA:333 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Brachycephaly, ... |
OMIM:245600 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Cerebellar hypoplasia, Hearing impairment, Cardiomegaly |
ORPHA:3137 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Hepatomegaly, Short fourth metatarsal, Brachydactyly, Posteriorly rotated ear... |
OMIM:618143 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Lymphede... |
ORPHA:2136 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Cone-shaped epiphyses of the phalanges ... |
OMIM:617781 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Brachycephaly, Low-set ears, Coron... |
ORPHA:228390 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Sensorineural hearing impairment, Hydrops fetalis, Radioulnar synostosis, Short middle phalanx of... |
OMIM:616738 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Sensorineural hearing imp... |
ORPHA:44 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ... |
OMIM:212093 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se... |
OMIM:618144 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Post... |
ORPHA:474 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Trigonocephaly, Sagittal craniosynostosis, Hydrocephalus, Scaphocep... |
ORPHA:459061 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Congenital diaphragmatic hernia, Vitritis, Abnormality of skin pigmentat... |
ORPHA:2556 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ... |
ORPHA:77261 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio... |
OMIM:615994 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Redundant neck skin, Ulnar deviation of the hand or of fingers of the hand, Hepatom... |
OMIM:214100 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Macrotia, Cardiomegaly |
OMIM:613576 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Brachycephaly, Severe sensorineural hearing impairmen... |
ORPHA:500 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Abnormal thumb morphology, Congestive hear... |
ORPHA:324410 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Frontal bossing, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Hypertrophic ca... |
OMIM:613673 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Rhabdomyolysis, Cardiomyopa... |
ORPHA:746 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilled... |
ORPHA:217085 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Coloboma, Hypoplasia of the brainstem, Congenital contracture, Retinal d... |
OMIM:236670 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilled... |
ORPHA:217093 |
Cohen Syndrome |
|
Short metacarpal, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye ma... |
OMIM:216550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Sensorineural hearing impairment, Hydrocephalus, Flexion contracture, Coloboma, Hypoplasia of the... |
OMIM:615249 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot pol... |
OMIM:615665 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hypoplasia of the pons, Hydrocephalus, Flexion contracture, Optic atrophy, Pigmentary retinopathy... |
OMIM:613154 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Metaphyseal widening, Hypopigmentation of the skin, Hepatomegaly, Split hand, Trigo... |
OMIM:252500 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Lateral ventricle d... |
OMIM:619517 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation, Calvarial skull defect |
ORPHA:1117 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Generalized Arterial Calcification Of Infancy |
|
Choroidal neovascularization, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal artery morpho... |
ORPHA:51608 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia |
OMIM:600776 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Brachycephaly, Advanced eruption of teeth, Distally placed thumb, Agenesis of corpus callosum, Da... |
OMIM:619148 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly |
OMIM:619170 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Vestibular areflexia, Abno... |
ORPHA:886 |
Baraitser-Winter Syndrome 2 |
|
Abnormal pinna morphology, Short neck, Coloboma, Webbed neck, Trigonocephaly, Agenesis of corpus ... |
OMIM:614583 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema, Raynaud phenomenon, Rhabdomyosarcoma, Melanocytic nevus, Coloboma, Hemi... |
ORPHA:2874 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Biemond Syndrome Type 2 |
|
Coloboma, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Short toe, Hydrocephalus, Ol... |
OMIM:617667 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Abnormal pinna morphology, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyl... |
ORPHA:158687 |
Pearson Syndrome |
|
Hepatomegaly, Cardiac conduction abnormality, Splenomegaly, Hydrops fetalis, Dehydration, Abnorma... |
ORPHA:699 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Congenital sensorineural hearing impairment, Retinal pigment ep... |
ORPHA:52427 |
Stevenson-Carey Syndrome |
|
Posteriorly rotated ears, Brachycephaly, Coloboma, Cerebellar hypoplasia, Low-set ears, Camptodac... |
OMIM:611961 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... |
ORPHA:1517 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Brachydactyly, Posteriorly rotated ears, Prominent antihelix, Branchial anomaly, Short palm, Prom... |
ORPHA:466950 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Abnormal pulmonary valve morphology, Cranial asymmetry, Pulmonic stenosis... |
ORPHA:137634 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly, Molar tooth s... |
OMIM:614120 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Hydrocephalus, Ha... |
ORPHA:220497 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... |
OMIM:614416 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Kearns-Sayre Syndrome |
|
Sensorineural hearing impairment, Ragged-red muscle fibers, Cardiomyopathy, Pigmentary retinopath... |
OMIM:530000 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Short metacarpal, Bowing of the lon... |
ORPHA:85167 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Optic atrophy, Hypertrophic cardiomyopathy, Rod-cone dystrophy, Retinal degeneratio... |
ORPHA:391428 |
Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Short neck, Premature graying of hair, Conductive hearing impairment... |
OMIM:113620 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Bone spicule pigmentation of the retina, Flexion contracture of finger, ... |
OMIM:609033 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Short neck, Brachycephaly, Knee flexion contracture, Atrial septal defect,... |
OMIM:121050 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Hepatomegaly, Congestive heart failure, Dilated cardiomyopathy, Hyperten... |
OMIM:203800 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Galactosialidosis |
|
Conjunctival telangiectasia, Nonimmune hydrops fetalis, Hepatosplenomegaly, Cherry red spot of th... |
OMIM:256540 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Optic atrophy, Brachycephaly |
ORPHA:1173 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Myo... |
OMIM:617713 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Cerebellar atrophy, Tricuspid regurgitation, Bicuspid aortic valve, Ventric... |
OMIM:620066 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria, Hearing ... |
OMIM:252920 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Broad hallux phalanx, Abnormality of retinal pigmentation, Splenomegaly, Sensorineu... |
ORPHA:585 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... |
ORPHA:897 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Flat occiput, Cerebellar vermis hypoplasia, Polyhydramnios, Short metatarsal... |
OMIM:216340 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Pigmentary retinopathy, Rod-cone dystrophy, Brach... |
OMIM:600151 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cerebellar vermis hypopla... |
ORPHA:2510 |
Proteus Syndrome |
|
Central heterochromia, Decreased muscle mass, Pulmonary embolism, Lymphedema, Abnormal finger mor... |
ORPHA:744 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Polyhydramnios, Short neck, Abnormality of masseter ... |
ORPHA:314621 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Wolfram Syndrome 1 |
|
Sensorineural hearing impairment, Optic atrophy, Limited mobility of proximal interphalangeal joi... |
OMIM:222300 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Posteriorly rotated ears, Tapered toe, Cardiomegaly, Tapered finger, Long... |
OMIM:608836 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia |
ORPHA:42 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Portal hypert... |
ORPHA:465508 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, Fair hair, Pulmonary edema, Edema, Cardiomegal... |
ORPHA:79330 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Protruding ear, Biparietal narrowing, Aplasia... |
ORPHA:2518 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, Posteriorly rotated ears, Facial palsy,... |
ORPHA:2780 |
Leigh Syndrome |
|
Focal substantia nigra T2 hyperintensity, Sensorineural hearing impairment, Optic atrophy, Pigmen... |
OMIM:256000 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Postaxial polydactyly, ... |
OMIM:619562 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Lateral ventricle dilatation, Broad hallux, Retinal pigment epithelial mottling |
OMIM:614105 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy, Hearing impairment |
ORPHA:141 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension, Pigmentary retinopathy |
OMIM:619059 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Retinal atrophy, Facial hypotonia, Cardiomegaly, Optic atrophy... |
ORPHA:97297 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma... |
ORPHA:555874 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Witteveen-Kolk Syndrome |
|
Uplifted earlobe, Proximal placement of thumb, Polyhydramnios, Congenital diaphragmatic hernia, P... |
OMIM:613406 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Sensorineural hearing impairment, Coloboma, Polydactyly, Cerebellar d... |
OMIM:616490 |
Melas |
|
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Sensorineural hearing impairment,... |
ORPHA:550 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Premature birth, Polyhydramn... |
ORPHA:50945 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short neck, Coloboma, Abnormal optic disc morphology, Short palm, Clinodac... |
ORPHA:508498 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Freckling, Telangiectasia of extensor sur... |
OMIM:137940 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Sandal gap, Abnormal retinal vascular morphology, Optic atro... |
ORPHA:2715 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Pseudo-Torch Syndrome 3 |
|
Premature birth, Cerebral hemorrhage, Cardiomegaly, Hypertension, Cerebellar hypoplasia |
OMIM:618886 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Ede... |
ORPHA:167 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Skeletal muscle atrophy, Short neck, Postax... |
ORPHA:110 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation |
ORPHA:873 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Semilobar Holoprosencephaly |
|
Proboscis, Sensorineural hearing impairment, Hydrocephalus, Abnormal brainstem morphology, Flexio... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Proboscis, Sensorineural hearing impairment, Hydrocephalus, Abnormal brainstem morphology, Flexio... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Proboscis, Sensorineural hearing impairment, Hydrocephalus, Abnormal brainstem morphology, Flexio... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Proboscis, Sensorineural hearing impairment, Hydrocephalus, Abnormal brainstem morphology, Flexio... |
ORPHA:93924 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Hepatomegaly, Hip contracture, Retinal atrophy, Abnormal pinna morphology, De... |
OMIM:216400 |
Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Postax... |
OMIM:615986 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Dehydration, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, He... |
OMIM:560000 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the abdominal wall musculature, Retino... |
ORPHA:578 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Telangiectasia of the skin, Rocker ... |
ORPHA:902 |
Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Cerebel... |
OMIM:618460 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Optic atrophy, Skeletal muscle steatosis, Pigmentary retinopathy, Bilateral sensori... |
ORPHA:436271 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Cardiomegaly, Heart block, Hydrocephalus, Cardiomyopa... |
ORPHA:228308 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Partial agenesis of the corpus callosum,... |
ORPHA:50 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Polydactyly, Rod-cone dystrophy, A... |
OMIM:613464 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly, Brachycephaly, Protruding ear |
OMIM:618798 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Increased ... |
OMIM:220110 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Decreased fetal movement, Patent ductus arteriosus, Scaphocephaly, Cranial asymmetry, Hydrocephal... |
OMIM:614886 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Pulmonary edema, Cardiomegaly, Sensorineural hearing impairment, Amyloid deposition in the vitreo... |
OMIM:105210 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Thickened nuchal skin fold, Cerebellar atrophy, Tricuspid regurgitation, Short femur, Cardiomegal... |
OMIM:620306 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Retinal pi... |
OMIM:607459 |
Isolated Posterior Meningocele |
|
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... |
ORPHA:268810 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v... |
OMIM:201475 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Molar tooth sign on MRI, Agenesis of corpus callosum, Iris c... |
OMIM:249000 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Torticollis, Congestive heart failure, Macular degeneration,... |
ORPHA:48818 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct... |
OMIM:164210 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Skeletal muscle atrophy, Optic disc hypop... |
ORPHA:233 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epi... |
ORPHA:1433 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... |
ORPHA:268 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Abnormal occipital bone morphology, ... |
ORPHA:63259 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Holoprosencephaly 7 |
|
Frontal bossing, Flat occiput, Alobar holoprosencephaly, Macrotia, Hydrocephalus, Cranial asymmet... |
OMIM:610828 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Cardiomegaly, Thenar mu... |
ORPHA:2463 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Abnormal vitreou... |
ORPHA:1101 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Cardiomegaly, Congestive heart failure, Optic atrophy, Cardiomyopathy, Limb m... |
OMIM:619259 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Tibial bowing, Conductive hearing impairment, Molar tooth sign on M... |
OMIM:277170 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ... |
OMIM:607823 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Natal tooth, Cerebellar vermis hypoplasia, Ventricular septal defect, Po... |
OMIM:615948 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Optic ner... |
OMIM:605627 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis, Syndactyly |
OMIM:224120 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Hypertrichotic hyperpigmented patch, Atrial se... |
OMIM:602782 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Abnormal midbrain morphology, Foot joint contracture, Short neck, Hypo... |
ORPHA:444072 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Nonimmune hydrops fetalis, Short neck, Absent thumb, Short thumb, Part... |
ORPHA:124 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnormal earlobe... |
ORPHA:96191 |
Bardet-Biedl Syndrome 1 |
|
Attenuation of retinal blood vessels, Syndactyly, Brachydactyly, Bone spicule pigmentation of the... |
OMIM:209900 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Abetalipoproteinemia |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Congestive heart failure, Myopat... |
ORPHA:14 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Coloboma, Short palm, Clinodactyly of the 5th finger, Atri... |
ORPHA:251014 |
Hemimegalencephaly |
|
Optic atrophy, Cranial asymmetry |
ORPHA:99802 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Polydactyly, Chorioretinal atrophy |
OMIM:245800 |
Cockayne Syndrome B |
|
Hepatomegaly, Abnormal pinna morphology, Cerebellar calcifications, Delayed eruption of primary t... |
OMIM:133540 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:71212 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Short neck, Cardiomegaly, Secundum atrial septal defe... |
OMIM:300855 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Distal lower limb amyotrophy, Proximal m... |
ORPHA:466768 |
Arima Syndrome |
|
Dilated fourth ventricle, Hepatomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar verm... |
OMIM:243910 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
Acrocallosal Syndrome |
|
Coloboma, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Hypopigmentation of the fu... |
OMIM:200990 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Edema of the dorsum of hands, Brachyce... |
OMIM:274000 |
Hereditary Elliptocytosis |
|
Splenomegaly, Frontal bossing, Hydrops fetalis |
ORPHA:288 |
Familial Aortic Dissection |
|
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... |
OMIM:614921 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Congenital contracture, Retinal arteriolar constriction, Retinal degener... |
ORPHA:191 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Prolidase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Arachnodactyly, Splenomegaly, Genu valgum, Whi... |
ORPHA:742 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger |
ORPHA:2521 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Flat occiput, Posteriorly rotated ears, P... |
ORPHA:2211 |
Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Chorioretinal lacunae, Sensorineural hearing impairment, Retinal pigmen... |
OMIM:618733 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Increased variability in muscle fiber diameter, Increased muscle glycogen cont... |
ORPHA:502423 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hepatomegaly, Foot joint contracture, Hypermelanotic macule,... |
ORPHA:90321 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Arachnodactyly, Abnormality of retinal pigmentation |
ORPHA:171844 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Retinal detachment, Abnormality of retinal pigmentatio... |
ORPHA:394 |
Beckwith-Wiedemann Syndrome |
|
Polyhydramnios, Cardiomegaly, Congenital diaphragmatic hernia, Subchorionic septal cyst, Leiomyos... |
ORPHA:116 |
Marcus-Gunn Syndrome |
|
Coloboma, Morning glory anomaly, Abnormal heart morphology |
ORPHA:91412 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Skeletal muscle atrophy, Melanocytic nevu... |
ORPHA:1969 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Frontal bossing, Mixed hearing impairment, Short metacarpal, Bowed humerus, Ta... |
OMIM:272460 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Hepatomegaly, Nonimmune hydrops fetalis |
OMIM:266200 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy, Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy |
OMIM:600462 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Brachycephaly, Hearing impairment |
ORPHA:349 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Cardiac conduction abnormality, Sensorineural hearing impairment, Dilated cardiomyo... |
ORPHA:255210 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
Familial Multiple Lipomatosis |
|
Bowing of the long bones, Coloboma, Chorioretinitis, Abnormal tricuspid valve morphology, Prematu... |
ORPHA:199276 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
Hardikar Syndrome |
|
Hepatomegaly, Ventricular septal defect, Portal hypertension, Hematemesis, Splenomegaly, Patent d... |
OMIM:301068 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hearing impairment, Hydroceph... |
ORPHA:636 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Torticollis, Posteriorly rotated ears, Spina bifida, Tapered finger, Patent duct... |
OMIM:619480 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Pigmentary retinopathy, C... |
ORPHA:88628 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... |
OMIM:208000 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, ... |
ORPHA:646 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Hepatomegaly, Vasculitis, Hydrops fetalis |
ORPHA:3261 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal d... |
OMIM:619534 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling, Sensorineural hearing impairment |
OMIM:234580 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Pigmentary retinopathy, Rhabdomyolysis |
ORPHA:79095 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Thickened calvaria, Frontal bossing, Hallux valgus, Ventricular septal defect, Left ventricular n... |
OMIM:300967 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Metatarsus adductus, Long neck, Patent ductus arteri... |
OMIM:611962 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Congenital malformation of the left heart, Chiari type I malformation, Age... |
ORPHA:3455 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Short neck, Sensorineural hearing impairment, Protruding ear, Pigme... |
OMIM:614230 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Bowing of the legs, Sensorineural hearing impairment, Long hallux, Ped... |
OMIM:617107 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Hematochezia, Coloboma, Anasarca, Low-set ears, Pleural eff... |
OMIM:618183 |
Down Syndrome |
|
Prenatal double bubble sign, Redundant neck skin, Brachycephaly, Short palm, Conductive hearing i... |
OMIM:190685 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Hydrops fetalis, Dehydration |
OMIM:557000 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Fucosidosis |
|
Hepatomegaly, Frontal bossing, Cardiomegaly, Coxa valga, Splenomegaly, Flexion contracture, Macro... |
OMIM:230000 |
Baller-Gerold Syndrome |
|
Brachycephaly, Patellar hypoplasia, Conductive hearing impairment, Spina bifida occulta, Agenesis... |
OMIM:218600 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, 2-5 finger cutaneous syndactyly, Cranial asymmetry, Low posterior hairline, Camptoda... |
OMIM:609128 |
Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Rocker bottom foot, Brachycephaly, Coloboma, Cutaneous finger syndactyl... |
OMIM:606851 |
Schinzel-Giedion Syndrome |
|
Short neck, Tibial bowing, Chiari type I malformation, Abnormal cochlea morphology, Abnormal heli... |
ORPHA:798 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Sensorineural hearing impairment, Hydrops... |
OMIM:602522 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Toe extensor amyotrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Iron accu... |
ORPHA:157850 |
Carpenter Syndrome 2 |
|
Short neck, Preaxial polydactyly, Brachycephaly, Coxa vara, Protruding ear, Knee flexion contract... |
OMIM:614976 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Hepatomegaly, Cone/cone-rod dystrophy, Optic disc pallor, Facial hypotonia, L... |
ORPHA:404454 |
Peters Plus Syndrome |
|
Micromelia, Short neck, Polyhydramnios, Bicuspid pulmonary valve, Brachycephaly, Clinodactyly of ... |
ORPHA:709 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Stiff neck, Abnormal medulla oblongata morphology, Abnormal midbrain morphol... |
ORPHA:68 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Rod-cone dystrophy, Pigmentary retinopathy, Postaxial polydactyly |
OMIM:605231 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Enhanced S-Cone Syndrome |
|
Edema, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Rubinstein-Taybi Syndrome 1 |
|
Polyhydramnios, Flexion contracture, Coloboma, Atrial septal defect, Prominent fingertip pads, Cl... |
OMIM:180849 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Short neck, Brachycephaly, Knee flexion contracture, Coloboma, Atrial septal defe... |
OMIM:268300 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Conductive hearing ... |
ORPHA:959 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Retinal atrophy, Hydrocephalus, Optic atrophy, Coloboma, Hypoplasia of the ... |
OMIM:253280 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation, Brachydactyly, Coxa vara, Dislocated radial head |
ORPHA:1824 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Telangiectasia of the skin, Rocker ... |
ORPHA:79474 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Frontal bossing, Syndactyly, Cerebellar vermis hypoplasia, Ventricular septal defect, Posteriorly... |
OMIM:616975 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... |
ORPHA:3384 |
Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Dilated fourth ventricle, Ventricular septal defect, Broad hal... |
ORPHA:434179 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Hydrocephalus, Macrotia, Low-set ears |
OMIM:277400 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Prominent occiput, Cardiomyo... |
OMIM:130650 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Protruding ear, Ab... |
ORPHA:904 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy, Distal amyotrophy, Increased variability in muscle fiber diameter, Hearin... |
OMIM:617675 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Limb joint contracture, Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
OMIM:617282 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Calf muscle pseudohypertrophy, Sensorineural hearing impairment, Optic atrophy, Pigmentary retino... |
ORPHA:96180 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertension, Retinopathy |
OMIM:603903 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt... |
OMIM:268315 |
Hepatoerythropoietic Porphyria |
|
Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality of the amniotic fluid, Hypopigmentati... |
ORPHA:95159 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Frontal bossing, Micromelia, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrops fetal... |
ORPHA:93271 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Perifoveal ring of hyperautofluorescence, Tympanosclerosis, Pigmentary retinopathy, Vitiligo |
OMIM:240300 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Frontal bossing, Hypopigmentation of hair, Skeletal muscle atrophy, Splenomegaly, M... |
OMIM:219800 |
Alagille Syndrome 1 |
|
Frontal bossing, Hypoplasia of the ulna, Ventricular septal defect, Macrotia, Chorioretinal atrop... |
OMIM:118450 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilateral talipes... |
OMIM:600145 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Abnormal finger morphology, Cranial asymmetry, Coloboma, Hypopigmentatio... |
OMIM:163200 |
Lowry-Wood Syndrome |
|
Clinodactyly of the 5th finger, Pigmentary retinopathy, Elbow flexion contracture, Brachydactyly |
OMIM:226960 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Frec... |
OMIM:610651 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lymphedema, Lip tela... |
ORPHA:79280 |
Charge Syndrome |
|
Polyhydramnios, Secundum atrial septal defect, Hand monodactyly, Coloboma, Holoprosencephaly, Atr... |
OMIM:214800 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Premature birth, Cardiomegaly, Patent ductus arteriosus, Partial anoma... |
ORPHA:95430 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Pat... |
OMIM:619991 |
Microphthalmia, Syndromic 3 |
|
Frontal bossing, Optic nerve aplasia, Ventricular septal defect, Optic nerve hypoplasia, Patent d... |
OMIM:206900 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Stiff neck, Abnormal substantia nigra morphology, Abnormal midbrain morp... |
ORPHA:79139 |
Congenital Erythropoietic Porphyria |
|
Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality of the amniotic fluid, Hypopigmentati... |
ORPHA:79277 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Flexion contracture of finger, Skeletal muscle atrophy, Camptodactyl... |
OMIM:256040 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Br... |
ORPHA:353281 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... |
ORPHA:206448 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Conges... |
OMIM:182250 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Craniosynostosis, Poorly formed metencephalon, Aprosencephaly, Talipes equinovarus, Retinal dyspl... |
OMIM:601374 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ... |
ORPHA:790 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Sandal gap, Rhabdomyosarcoma, Retinal pigment epithelial mottling, 2... |
OMIM:251260 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Plag... |
ORPHA:51 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, Chiari type I malformation, Coloboma, Conductive hearing i... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, Chiari type I malformation, Coloboma, Conductive hearing i... |
ORPHA:353277 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... |
ORPHA:91500 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertension, Pigmentary retinopathy, Low-set ears, Pulmonary arterial h... |
OMIM:606721 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Dehydration |
ORPHA:411629 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Polydactyly, Pigmentary retinopathy |
OMIM:616562 |
Microphthalmia, Syndromic 6 |
|
Uplifted earlobe, Brachycephaly, Protruding ear, Coloboma, Clinodactyly of the 5th finger, Finger... |
OMIM:607932 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
Ramon Syndrome |
|
Delayed eruption of teeth, Optic disc pallor, Telangiectasia, Pigmentary retinopathy, Hearing imp... |
OMIM:266270 |
Proximal Renal Tubular Acidosis |
|
Coloboma, Hypovolemia, Dehydration, Subvalvular aortic stenosis |
ORPHA:47159 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Optic atrophy, Pigmentary retinopathy, Myopathy, Retinal degeneration, Hyp... |
OMIM:234200 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Sensorineural hearing impairment, Abnormal midbrain morphology, Brachydactyly |
ORPHA:293987 |
Okur-Chung Neurodevelopmental Syndrome |
|
Broad hallux, Polyhydramnios, Cupped ear, Abnormal heart morphology, Low-set ears, Clinodactyly o... |
OMIM:617062 |