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Gene: Csnk2a1 MGI:88543

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
casein kinase 2, alpha 1 polypeptide
Synonyms:
Csnk2a1-rs4,  CK2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Csnk2a1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Csnk2a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Okur-Chung Neurodevelopmental Syndrome
Broad hallux, Polyhydramnios, Cupped ear, Abnormal heart morphology, Low-set ears, Clinodactyly o... OMIM:617062

The table below shows human diseases predicted to be associated to Csnk2a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Csnk2a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Csnk2a1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Myeloid Cell CK2 Regulates Inflammation and Resistance to Bacterial Infection. Frontiers in immunology (December 2020) Csnk2a1tm1a(EUCOMM)Wtsi PMC7752951

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Csnk2a1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Csnk2a1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Csnk2a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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