Gene: Csnk2a1 MGI:88543

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.

Human diseases associated with Csnk2a1 (1 diseases)
Human diseases predicted to be associated with Csnk2a1 (642 diseases)

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		Low-set ears, Umbilical hernia, Polyhydramnios, Abnormal heart morphology, Cupped ear, Overfolded...	OMIM:617062

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

Disease	Matching phenotypes	Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia, Neural tube defect, Retinal dysplasia	OMIM:615041
Mulibrey Nanism	Iris coloboma, Hydrops fetalis, Pigmentary retinopathy, Hepatomegaly, Dolichocephaly, Congestive ...	OMIM:253250
Infantile Sialic Acid Storage Disease	Hydrocephalus, Hydrops fetalis, Hepatomegaly, Hypopigmentation of the skin, Congestive heart fail...	OMIM:269920
Lambert Syndrome	Branchial anomaly, Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect	ORPHA:1296
Fetal Parvovirus Syndrome	Ascites, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy	ORPHA:295
Diprosopus	Abnormal cardiac septum morphology, Anencephaly, External ear malformation, Abnormality of retina...	ORPHA:1681
Sialidosis Type 2	Abnormal macular morphology, Hydrops fetalis, Umbilical hernia, Skeletal muscle atrophy, Hepatome...	ORPHA:87876
Indomethacin Embryofetopathy	Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Cardiomyopathy, Oligohydramnios...	ORPHA:1909
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Fetal akinesia sequence, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Br...	OMIM:618815
Nuchal Bleb, Familial	Stillbirth, Fetal cystic hygroma, Cystic hygroma, Hydrops fetalis	OMIM:257350
Congenital Disorder Of Glycosylation, Type Ik	Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Cardiomyopathy, Hepatomegaly, Flexi...	OMIM:608540
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Hepatomegaly, Cardiomyopathy	OMIM:609016
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Brachycephaly, Webbed neck, Ventricular septal defect, Short neck, Hydrops fetalis,...	OMIM:616897
Hydrops Fetalis	Nonimmune hydrops fetalis, Abnormality of the neck, Arrhythmia, Polyhydramnios, Capillary leak, A...	ORPHA:1041
Cardiomyopathy, Familial Hypertrophic, 27	Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp...	OMIM:618052
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hydrops fetalis, Polyhydramnios, Hepatomegaly, Fetal ascites, Fetal pleural effusion, Fetal peric...	OMIM:619462
Achondrogenesis	Cystic hygroma, Short neck, Hydrops fetalis, Umbilical hernia, Polyhydramnios, Thickened nuchal s...	ORPHA:932
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Low-set ears, Atrial septal defect, Hydrocephalus, Short neck, Hydrops fetalis, Polyhydramnios, A...	OMIM:616546
Trisomy 13	Calvarial skull defect, Low-set ears, Cystic hygroma, Iris coloboma, Atrial septal defect, Abnorm...	ORPHA:3378
Congenital Toxoplasmosis	Hydrocephalus, Hepatomegaly, Hearing impairment, Abnormality of retinal pigmentation, Premature b...	ORPHA:858
Achondrogenesis Type 1B	Cystic hygroma, Short neck, Hydrops fetalis, Umbilical hernia, Polyhydramnios, Thickened nuchal s...	ORPHA:93298
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Hydrops fetalis, Polyhydramnios, Hepatomegaly, Congestive heart failure, Oligohydr...	ORPHA:163596
Verheij Syndrome	Short neck, Ventricular septal defect, Optic nerve hypoplasia, Branchial cyst, Truncus arteriosus...	OMIM:615583
Achondrogenesis Type 1A	Cystic hygroma, Short neck, Hydrops fetalis, Umbilical hernia, Polyhydramnios, Thickened nuchal s...	ORPHA:93299
Mitochondrial Complex I Deficiency, Nuclear Type 35	Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Redundant neck skin, Cardiomyopathy, ...	OMIM:619003
Neuraminidase Deficiency	Hydrops fetalis, Cardiomyopathy, Skeletal muscle atrophy, Hepatomegaly, Facial edema, Cherry red ...	OMIM:256550
Congenital Pulmonary Lymphangiectasia	Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Chylopericardi...	ORPHA:2414
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Reduced left ventricular ejection fraction, Hydrops fetalis, Arrhythmia, Supraventr...	ORPHA:45452
Ethanolaminosis	Cardiomegaly	OMIM:227150
Trisomy 1Q	Increased nuchal translucency, Camptodactyly of finger, Low-set ears, Cystic hygroma, Ventricular...	ORPHA:261344
Mosaic Trisomy 9	Biparietal narrowing, Camptodactyly of finger, Dextrocardia, Low-set ears, Cystic hygroma, Ventri...	ORPHA:99776
Neurocutaneous Melanocytosis	Numerous congenital melanocytic nevi, Meningocele, Intracranial hemorrhage, Chiari malformation, ...	ORPHA:2481
Cardiomyopathy, Familial Restrictive, 6	Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Tricuspid regurgitation, Pulmonary insufficienc...	OMIM:619433
Congenital Muscular Dystrophy With Cerebellar Involvement	Olivopontocerebellar hypoplasia, Cardiomyopathy, Occipital encephalocele, Optic nerve hypoplasia,...	ORPHA:370959
Achondrogenesis, Type Ib	Breech presentation, Edema, Hydrops fetalis, Umbilical hernia, Polyhydramnios, Stillbirth	OMIM:600972
Klippel-Trénaunay Syndrome	Edema, Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Hepatomegaly, Abnormal tricuspi...	ORPHA:90308
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Craniosynostosis, Plagiocephaly, Macroglossia, Increased nuchal translucency, Cystic hygroma, Atr...	ORPHA:453499
Holoprosencephaly	Abnormal pulmonary valve morphology, Tetralogy of Fallot, Ventricular septal defect, Aplasia/Hypo...	ORPHA:2162
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Conductive hearing impairment, Protruding ear, Pulmonic stenos...	ORPHA:1131
Hydrops Fetalis, Nonimmune	Nonimmune hydrops fetalis, Congestive heart failure, Hydrops fetalis	OMIM:236750
Microcephaly-Cardiomyopathy Syndrome	Ventricular septal defect, Dilated cardiomyopathy, Abnormality of retinal pigmentation	ORPHA:2515
Transaldolase Deficiency	Hepatosplenomegaly, Edema, Atrial septal defect, Hydrops fetalis, Biventricular hypertrophy, Tela...	ORPHA:101028
Spinocerebellar Ataxia, Autosomal Recessive 29	Iron accumulation in substantia nigra, Retinal pigment epithelial mottling, Optic disc pallor, Ce...	OMIM:619389
Leber Congenital Amaurosis	Abnormal optic disc morphology, Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis, Heari...	ORPHA:65
Glycogen Storage Disease Iv	Hepatosplenomegaly, Decreased fetal movement, Edema, Hydrops fetalis, Polyhydramnios, Cardiomyopa...	OMIM:232500
Cardiomyopathy, Dilated, 1I	Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ...	OMIM:604765
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Low-set ears, Hydrocephalus, Short neck, Hydrops fetalis, Posteriorly rotated ears...	ORPHA:1865
Gm1-Gangliosidosis, Type I	Short neck, Hydrops fetalis, Hepatomegaly, Abnormal heart valve morphology, Cherry red spot of th...	OMIM:230500
Peroxisomal Acyl-Coa Oxidase Deficiency	Low-set ears, Brachycephaly, Bilateral sensorineural hearing impairment, Pigmentary retinopathy, ...	OMIM:264470
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Occipital encephalocele, Congenital muscular dystrophy, Cerebellar malformation, R...	ORPHA:324416
Cofs Syndrome	Camptodactyly of finger, Short neck, Abnormality of retinal pigmentation, Sensorineural hearing i...	ORPHA:1466
Retinitis Pigmentosa 36	Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ...	OMIM:610599
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Cerebellar dysplasia, Left ventricular hypertrophy, Hydrocephalus,...	OMIM:613153
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Polyhydramnios, Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:613124
Joubert Syndrome 14	Encephalocele, Low-set ears, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Morning g...	OMIM:614424
Neurooculocardiogenitourinary Syndrome	Low-set ears, Redundant neck skin, Ventricular septal defect, Atrial septal defect, Tricuspid reg...	OMIM:618652
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Fetal akinesia sequence, Decreased fetal movement, Hydrops fet...	ORPHA:85212
Gm1 Gangliosidosis	Hepatosplenomegaly, Macroglossia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wa...	ORPHA:354
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Polyhydramnios, Hepatomegaly, Splenomegaly, Hydrops fetalis	ORPHA:2204
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Aplasia/Hypoplasia of the cerebellum	ORPHA:1178
Mucopolysaccharidosis, Type Vii	Macroglossia, Hydrocephalus, Short neck, Umbilical hernia, Cardiomyopathy, Hydrops fetalis, Hepat...	OMIM:253220
Sorsby Pseudoinflammatory Fundus Dystrophy	Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ...	ORPHA:59181
Ring Chromosome 14 Syndrome	Low-set ears, Short neck, Flat occiput, Pigmentary retinopathy, Dolichocephaly	OMIM:616606
Ritscher-Schinzel Syndrome 1	Low-set ears, Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Hydrocephalus...	OMIM:220210
Choroidal Dystrophy, Central Areolar, 1	Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy	OMIM:215500
Long Qt Syndrome 3	Prolonged QTc interval, Nonimmune hydrops fetalis, Ventricular tachycardia, Hydrops fetalis, Tors...	OMIM:603830
Choroideremia	Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath...	OMIM:303100
Liberfarb Syndrome	Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen...	OMIM:618889
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis, Diffuse cerebellar atrophy, Ragged-red muscle fibers, Hearing impairment	ORPHA:477774
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re...	OMIM:613830
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Chromosome 6Pter-P24 Deletion Syndrome	Low-set ears, Brachycephaly, Ventricular septal defect, Hydrocephalus, Umbilical hernia, Pigmenta...	OMIM:612582
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Cerebellar hypoplasia, Abnormality of retinal pigmentation	ORPHA:2246
Mitochondrial Trifunctional Protein Deficiency 1	Rhabdomyolysis, Abnormality of the amniotic fluid, Myopathy, Hydrops fetalis, Arrhythmia, Pigment...	OMIM:609015
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Pigmentary retinopathy, D...	OMIM:252011
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto...	ORPHA:75377
Mucopolysaccharidosis, Type Ii	Hepatosplenomegaly, Macroglossia, Hydrocephalus, Short neck, Umbilical hernia, Papilledema, Hepat...	OMIM:309900
Congenital Myopathy 1B, Autosomal Recessive	Minicore myopathy, Decreased fetal movement, Hydrops fetalis, Muscular dystrophy, Polyhydramnios,...	OMIM:255320
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Myopathy, Pigmentary retinopathy, Hepatomegaly, Congestive heart ...	OMIM:618234
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi...	ORPHA:97341
Combined Oxidative Phosphorylation Deficiency 57	Cardiac arrest, Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Neonata...	OMIM:620167
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial septal defect, Ventricular septal defect, Hydrops fetalis, Overriding aorta, Atrial flutte...	OMIM:601927
Trisomy 18	Camptodactyly of finger, Low-set, posteriorly rotated ears, Cyclopia, Iris coloboma, Ventricular ...	ORPHA:3380
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation	ORPHA:1852
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene...	ORPHA:85128
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Cerebellar atrophy, Optic atrophy	OMIM:610951
Congenital Muscular Dystrophy With Intellectual Disability	Limb-girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abnormal pons morphology, P...	ORPHA:370968
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Hydrocephalus, Abnormality of retinal pigmentation	ORPHA:397951
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Cerebellar atrophy, Hearing impairment	OMIM:619090
Familial Drusen	Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin...	ORPHA:75376
Diffuse Neonatal Hemangiomatosis	Hydrops fetalis, Polyhydramnios, Hepatomegaly, Patent ductus arteriosus, Premature birth, Ascites	ORPHA:2123
Congenital Enterovirus Infection	Myocarditis, Decreased fetal movement, Hypotension, Hydrops fetalis, Polyhydramnios, Cardiomyopat...	ORPHA:292
Free Sialic Acid Storage Disease	Aplasia/Hypoplasia of the abdominal wall musculature, Iris hypopigmentation, Hydrops fetalis, Hep...	ORPHA:834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Macroglossia, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Muscular dystr...	OMIM:613156
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Craniosynostosis, Macroglossia, Increased nuchal translucency, Conductive hearing impairment, Cys...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Craniosynostosis, Macroglossia, Increased nuchal translucency, Conductive hearing impairment, Cys...	ORPHA:352665
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Low-set ears, Dehydration, Hydrocephalus, Subdural hemorrhage, H...	ORPHA:79282
Distal 22Q11.2 Microduplication Syndrome	Macroglossia, Biparietal narrowing, Camptodactyly of finger, Camptodactyly of toe, Low-set ears, ...	ORPHA:261337
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatosplenomegaly, Nonimmune hydrops fetalis, Fetal akinesia sequence, Myopathy, Polyhydramnios,...	ORPHA:367
Oligomeganephronia	Secundum atrial septal defect, Dehydration, Hypertension, Premature birth, Hearing impairment, Br...	ORPHA:2260
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Joubert Syndrome 15	Retinal dystrophy, Molar tooth sign on MRI, Exencephaly, Retinopathy, Coloboma	OMIM:614464
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Weakness of facial musculature, Pigmentary retinopathy, Cardiomyopathy, Skeletal muscle atrophy, ...	ORPHA:329336
Coronary Arterial Fistula	Atrial septal defect, Bacterial endocarditis, Abnormal heart morphology, Angina pectoris, Patent ...	ORPHA:2041
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Chondrodysplasia, Blomstrand Type	Hydrops fetalis, Polyhydramnios, Fetal ascites, Stillbirth, Premature birth	OMIM:215045
Macular Dystrophy, Retinal, 2	Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal...	OMIM:608051
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Umbilical hernia, Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation	ORPHA:2196
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Sensorineural hearing impairment, Cardiomyopathy, Retinal degeneration	OMIM:520000
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy, Abnormality of retinal pigmentation	ORPHA:2579
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Joubert Syndrome 16	Encephalocele, Retinal dystrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Coloboma	OMIM:614465
Alg3-Cdg	Macroglossia, Abnormal pinna morphology, Hypoplasia of the pons, Cardiomyopathy, Hearing impairme...	ORPHA:79321
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Cardiomyopathy, Familial Hypertrophic, 4	Cardiac arrest, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hypertrophy...	OMIM:115197
Congenital Myopathy 8	Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrophy, Congestiv...	OMIM:618654
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Myopathy	OMIM:551500
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Camptodactyly of finger, Brachycephaly, Hydrocephalus, Myopathy, Muscular dystroph...	ORPHA:272
Lethal Congenital Contracture Syndrome 10	Macroglossia, Stiff neck, Low-set ears, Torticollis, Fetal akinesia sequence, Ventricular septal ...	OMIM:617022
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure, Macrotia, Hydrocephalus	OMIM:300886
Mycophenolate Mofetil Embryopathy	Iris coloboma, Ventricular septal defect, Hydrocephalus, Hydrops fetalis, Atresia of the external...	ORPHA:268249
Combined Oxidative Phosphorylation Deficiency 8	Reduced left ventricular ejection fraction, Neonatal death, Congestive heart failure, Increased v...	OMIM:614096
Nanophthalmos	Abnormal choroid morphology, Abnormality of retinal pigmentation	ORPHA:35612
Mgat2-Cdg	Prominent antihelix, Low-set, posteriorly rotated ears, Ventricular septal defect, Reflex asystol...	ORPHA:79329
Uruguay Faciocardiomusculoskeletal Syndrome	Camptodactyly of toe, Camptodactyly, Mitral regurgitation, Low-set ears, Left atrial enlargement,...	OMIM:300280
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Joubert Syndrome 3	Low-set ears, Atrial septal defect, Pigmentary retinopathy, Elongated superior cerebellar peduncl...	OMIM:608629
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Alg8-Cdg	Macroglossia, Low-set ears, Camptodactyly, Edema, Hydrops fetalis, Oligohydramnios, Premature bir...	ORPHA:79325
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Ventricular septal defect, Hypertensi...	OMIM:617021
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Nonimmune hydrops fetalis, Coronal craniosynostosis, Camptodactyly, Conductive hearing impairment...	OMIM:235510
Branchiogenic Deafness Syndrome	Reticulated skin pigmentation, Conductive hearing impairment, Aplasia/Hypoplasia of the inner ear...	ORPHA:50815
Leigh Syndrome With Leukodystrophy	Ventricular septal defect, Pigmentary retinopathy, Hearing impairment, Hypertrophic cardiomyopath...	ORPHA:255241
Branchiootic Syndrome 1	Low-set ears, Cochlear malformation, Mixed hearing impairment, Branchial fistula, Cupped ear, Sen...	OMIM:602588
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal pigmentati...	OMIM:251270
Branchiogenic-Deafness Syndrome	Abnormality of the middle ear ossicles, Mixed hearing impairment, Atresia of the external auditor...	OMIM:609166
Vici Syndrome	Abnormal macular morphology, Hypoplasia of the pons, Cardiomyopathy, Abnormality of retinal pigme...	ORPHA:1493
Alg9-Cdg	Enlarged kidney, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Abnormal heart mo...	ORPHA:79328
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Frontonasal Dysplasia 1	Camptodactyly, Low-set ears, Conductive hearing impairment, Tetralogy of Fallot, Anterior basal e...	OMIM:136760
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, ...	ORPHA:3405
Fixed Subaortic Stenosis	Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At...	ORPHA:3092
Bietti Crystalline Dystrophy	Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn...	ORPHA:41751
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge...	OMIM:618773
Intellectual Developmental Disorder, Autosomal Dominant 48	Plagiocephaly, Low-set ears, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Ventricul...	OMIM:617751
S-Adenosylhomocysteine Hydrolase Deficiency	Hydrops fetalis, Hypoplasia of the pons, Muscular dystrophy, Cardiomyopathy, Cerebellar hypoplasia	ORPHA:88618
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Boomerang Dysplasia	Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis	ORPHA:1263
Retinopathy, Pericentral Pigmentary, Dominant	Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ...	OMIM:180210
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Achondrogenesis, Type Ii	Cystic hygroma, Brachycephaly, Edema, Hydrops fetalis, Polyhydramnios, Stillbirth, Frontal bossing	OMIM:200610
Achromatopsia	Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina...	ORPHA:49382
Oliver-Mcfarlane Syndrome	Distal amyotrophy, Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Atrial septal defect, Dolichocephaly, Branchial cyst, Patent foramen ovale, Echogenic fetal bowel...	OMIM:620186
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Iris coloboma, Abnormal helix morphology, Abnormality of retinal pigmentation, Prominent occiput,...	ORPHA:1259
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Hearing impairment, Abnormality of retinal pigmentation, Third degree at...	ORPHA:480
Cln3 Disease	Left ventricular hypertrophy, Pigmentary retinopathy, Bradycardia, T-wave inversion, Optic atroph...	ORPHA:228346
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopathy, Bradycardia, Pl...	OMIM:614702
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy,...	ORPHA:3208
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Enlarged kidney, Anasarca, Cardiomyopathy, Hypertrophic cardiomyopathy, Br...	OMIM:261740
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Camptodactyly, Protruding ear, Knee flexion contracture, Branchial cyst, Sensorineural hearing im...	ORPHA:435938
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Optic disc pallor, Abnormal heart morphology, Retinal degeneration, Tachy...	ORPHA:79264
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Macroglossia, Low-set ears, Abnormal placenta morphology, Hydrops fetalis, Ca...	ORPHA:79255
Congenital Disorder Of Glycosylation, Type Ia	Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Edema, Olivopontocerebellar hypopla...	OMIM:212065
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel...	ORPHA:506353
Yunis-Varon Syndrome	Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Cardiomyopathy, Hearing imp...	ORPHA:3472
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Abnormal pons morphology, Breech presentation, Atrial septal defect, Short neck, Hydrops fetalis,...	OMIM:300868
Leber Congenital Amaurosis 9	Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina...	OMIM:608553
Coach Syndrome 2	Hydrocephalus, Hypertension, Chorioretinal coloboma, Molar tooth sign on MRI, Agenesis of corpus ...	OMIM:619111
Retinitis Pigmentosa 32	Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the...	OMIM:609913
Cirrhotic Cardiomyopathy	Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l...	ORPHA:57777
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Low-set ears, Anterior encephalocele, Ventricular septal defect, Holoprosencephaly, Coloboma	OMIM:601357
Lymphatic Malformation 7	Increased nuchal translucency, Nonimmune hydrops fetalis, Edema, Atrial septal defect, Facial ede...	OMIM:617300
Fibrochondrogenesis 1	Camptodactyly, Low-set ears, Abnormal pinna morphology, Short neck, Hydrops fetalis, Stillbirth, ...	OMIM:228520
Retinitis Pigmentosa 57	Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613582
Lymphatic Malformation 6	Nonimmune hydrops fetalis, Generalized edema, Edema, Abnormal pinna morphology, Atrial septal def...	OMIM:616843
Joubert Syndrome With Ocular Defect	Encephalocele, Biparietal narrowing, Low-set, posteriorly rotated ears, Dextrocardia, Iris colobo...	ORPHA:220493
Leber Congenital Amaurosis 2	Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ...	OMIM:204100
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal pulmonary valve morphology, Abnormality of blood circulation, Abnormal ventriculoarteria...	ORPHA:860
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Bicoronal synostosis, Brachycephaly, Flat occiput, Hypoplasia of the pons, Optic nerve hypoplasia...	OMIM:618736
Diabetic Embryopathy	Spinal dysraphism, Aplasia/Hypoplasia of the abdominal wall musculature, Low-set, posteriorly rot...	ORPHA:1926
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Perimembranous ventricular septal defect, Dysplastic corpus callosum, Oligo...	OMIM:620135
Craniosynostosis 6	Parietal foramina, Bicoronal synostosis, Plagiocephaly, Craniosynostosis, Brachycephaly, Agenesis...	OMIM:616602
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Sensorineural hearing impairment, Ret...	OMIM:617879
Familial Atrial Myxoma	Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Congestive heart failure,...	ORPHA:615
Crouzon Syndrome	Multiple suture craniosynostosis, Conductive hearing impairment, Brachycephaly, Iris coloboma, Hy...	ORPHA:207
Retinitis Pigmentosa 11	Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen...	OMIM:600138
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Polyhydramnios, Fetal ascites, Neonatal death, Fetal pleural effusion,...	OMIM:620014
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Macular atrophy, Left ventricular systolic dysfunction, Peripheral retinal atrophy, Retinal pigme...	OMIM:145350
Retinitis Pigmentosa 27	Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment...	OMIM:613750
Congenital Rubella Syndrome	Ventricular septal defect, Atrial septal defect, Hepatomegaly, Abnormality of retinal pigmentatio...	ORPHA:290
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Conductive hearing impairment, Incomplete partition of the coc...	OMIM:113650
Capillary Malformation-Arteriovenous Malformation	Nonimmune hydrops fetalis, High-output congestive heart failure, Hydrocephalus, Abnormal heart mo...	ORPHA:137667
Oculopharyngodistal Myopathy 3	Conductive hearing impairment, Distal amyotrophy, Weakness of facial musculature, Pigmentary reti...	OMIM:619473
Schneckenbecken Dysplasia	Nonimmune hydrops fetalis, Short neck, Umbilical hernia, Polyhydramnios, Midface retrusion, Still...	OMIM:269250
Retinitis Pigmentosa 4	Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ...	OMIM:613731
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Nonimmune hydrops fetalis, Low-set ears, Decreased fetal movement, Polyhydram...	OMIM:608013
Cone-Rod Dystrophy 5	Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy	OMIM:600977
Microphthalmia, Isolated 5	Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ...	OMIM:611040
Joubert Syndrome 18	Camptodactyly, Agenesis of cerebellar vermis, Ventricular septal defect, Occipital encephalocele,...	OMIM:614815
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atr...	OMIM:265380
Attrv30M Amyloidosis	Vitreous floaters, Arrhythmia, Cardiomyopathy, Atrioventricular block, Cardiomegaly	ORPHA:85447
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Skeletal muscle atrophy, Abnormality of retinal pigmenta...	ORPHA:96
Congenital Disorder Of Glycosylation, Type Il	Hepatosplenomegaly, Low-set ears, Decreased fetal movement, Brachycephaly, Edema, Short neck, Hep...	OMIM:608776
Cantu Syndrome	Short neck, Umbilical hernia, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pe...	OMIM:239850
Cranioectodermal Dysplasia 2	Craniosynostosis, Cloverleaf skull, Plagiocephaly, Low-set ears, Cystic hygroma, Left ventricular...	OMIM:613610
Mucopolysaccharidosis Type 7	Hydrops fetalis, Short neck, Umbilical hernia, Lymphedema, Splenomegaly, Ascites	ORPHA:584
Zika Virus Disease	Abnormal optic disc morphology, Macular atrophy, Iris coloboma, Optic disc hypoplasia, Transient ...	ORPHA:448237
Combined Oxidative Phosphorylation Deficiency 41	Nonimmune hydrops fetalis, Cardiomegaly, Premature birth, Hearing impairment	OMIM:618838
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness...	ORPHA:215
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Hepatomegaly, Fundus atrophy, Sensorineural hearing impairment, Attenuati...	OMIM:204000
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Low-set ears, Protruding ear, Atrial septal defect, Ventricular septal defect, Umbilical hernia, ...	ORPHA:329224
Meckel Syndrome 13	Retinopathy, Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia, Flexion con...	OMIM:617562
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial effu...	OMIM:619313
Combined Oxidative Phosphorylation Deficiency 42	Nonimmune hydrops fetalis, Cardiomyopathy, Hearing impairment, Neonatal death, Premature birth	OMIM:618839
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Mitral regurgitation, Atrial septal d...	OMIM:620244
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Ventricular septal defect, Hydrocephalus, Brachyturricephaly, Abnormal shape of th...	OMIM:218350
Combined Oxidative Phosphorylation Deficiency 40	Nonimmune hydrops fetalis, Premature birth, Hearing impairment, Neonatal death, Hypertrophic card...	OMIM:618835
Senior-Loken Syndrome	Retinal dystrophy, Hypertension, Abnormality of retinal pigmentation	ORPHA:3156
Reticular Dystrophy Of Retinal Pigment Epithelium	Pigmentary retinopathy, Abnormality of retinal pigmentation	OMIM:179840
Cone-Rod Dystrophy 16	Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp...	OMIM:614500
Ramon Syndrome	Conductive hearing impairment, Abnormality of retinal pigmentation, Delayed eruption of teeth, Se...	ORPHA:3019
Spinocerebellar Ataxia 7	Pigmentary retinopathy, Olivopontocerebellar atrophy, Macular degeneration, Optic atrophy	OMIM:164500
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Hydrops fetalis, Palpebral edema, Pleural effusion, Plantar telangiectasia, Predominantly lower l...	ORPHA:69735
Isolated Right Ventricular Hypoplasia	Systolic heart murmur, Right ventricular failure, Atrial septal defect, Right-to-left shunt, Card...	ORPHA:439
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Meningocele, Hydrocephal...	OMIM:611134
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Low-set, posteriorly rotated ears, Heterochromia iridis, Ab...	ORPHA:1390
Retinitis Pigmentosa 76	Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni...	OMIM:617123
Attrv122I Amyloidosis	Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi...	ORPHA:85451
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Plagiocephaly, Nonimmune hydrops fetalis, Trigonocephaly, Decreased calvarial o...	OMIM:618265
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Chorioretinal atrophy, Hypertrophic cardiomyop...	ORPHA:5
Fetal Akinesia Deformation Sequence 1	Camptodactyly of finger, Fetal akinesia sequence, Cerebellar hypoplasia, Nonimmune hydrops fetali...	OMIM:208150
Bor Syndrome	External ear malformation, Abnormality of the middle ear ossicles, Atresia of the external audito...	ORPHA:107
Leber Congenital Amaurosis 8	Pigmentary retinopathy, Macular coloboma, Choriocapillaris atrophy, Nummular pigmentation of the ...	OMIM:613835
Campomelia, Cumming Type	Cystic hygroma, Hydrops fetalis, Hepatomegaly, Dolichocephaly, Lymphedema, Oligohydramnios	ORPHA:1318
Autosomal Recessive Spastic Paraplegia Type 15	Leg muscle stiffness, Distal amyotrophy, Pigmentary retinopathy, Upper limb muscle weakness, Abno...	ORPHA:100996
Distal 22Q11.2 Microdeletion Syndrome	Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Branchial fistula, Aort...	ORPHA:261330
Retinitis Pigmentosa 30	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:607921
Retinitis Pigmentosa 90	Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess...	OMIM:619007
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Macroglossia, Pulmonary arterial hypertension, Mitral regurgitation, Enlarged...	ORPHA:505248
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Plagiocephaly, Low-set ears, Brachycephaly, Short neck, Patent foramen ovale, Macro...	OMIM:616789
Central Retinal Vein Occlusion	Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m...	ORPHA:411527
Mucopolysaccharidosis Type 2	Abnormal pulmonary valve morphology, Papilledema, Cardiomyopathy, Abnormal mitral valve morpholog...	ORPHA:580
Greenberg Dysplasia	Hepatosplenomegaly, Increased nuchal translucency, Low-set ears, Nonimmune hydrops fetalis, Cysti...	OMIM:215140
Retinitis Pigmentosa 47	Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy	OMIM:613758
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,...	OMIM:610359
Retinitis Pigmentosa	Conductive hearing impairment, Abnormal retinal vascular morphology, Abnormality of retinal pigme...	ORPHA:791
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Protruding ear, Abnormal mitral valve morphology, Skeletal muscle atro...	ORPHA:192
Lymphedema-Distichiasis Syndrome	Nonimmune hydrops fetalis, Cystic hygroma, Tetralogy of Fallot, Ventricular septal defect, Arrhyt...	OMIM:153400
Carnitine Deficiency, Systemic Primary	Dehydration, Mitral regurgitation, Myopathy, Cardiomyopathy, Hepatomegaly, Congestive heart failu...	OMIM:212140
Meckel Syndrome, Type 10	Camptodactyly, Abnormal pinna morphology, Occipital encephalocele, Dandy-Walker malformation, Ane...	OMIM:614175
Treacher-Collins Syndrome	Encephalocele, Conductive hearing impairment, Brachycephaly, Iris coloboma, Branchial fistula, Mi...	ORPHA:861
Danon Disease	Ventricular tachycardia, Lower limb amyotrophy, Wolff-Parkinson-White syndrome, Syncope, Severely...	OMIM:300257
Refsum Disease, Classic	Arrhythmia, Cardiomyopathy, Retinal degeneration, Congestive heart failure, Sensorineural hearing...	OMIM:266500
Branchiootic Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Branchial fistula, Hearing...	ORPHA:52429
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly, Ventricular septal defect, Atrial septal defect, Hydrops fetalis, Lateral ventricl...	OMIM:263520
Alkuraya-Kucinskas Syndrome	Plagiocephaly, Camptodactyly, Low-set ears, Cystic hygroma, Pleural effusion, Edema, Hydrocephalu...	OMIM:617822
Timothy Syndrome	Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of...	OMIM:601005
Retinitis Pigmentosa 9	Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema	OMIM:180104
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attached earlobe, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:616108
Retinitis Pigmentosa 73	Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm...	OMIM:616544
Retinitis Pigmentosa 62	Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:614181
Refsum Disease	Heart block, Cardiomyopathy, Skeletal muscle atrophy, Abnormality of retinal pigmentation, Sensor...	ORPHA:773
Gaucher Disease	Pulmonary arterial hypertension, Abnormal macular morphology, Arthrogryposis multiplex congenita,...	ORPHA:355
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Optic disc pallor, Hypertension, Hepatomegaly, Aplasia/Hy...	OMIM:216360
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Hydrops fetalis	ORPHA:766
Corpus Callosum Agenesis-Neuronopathy Syndrome	Craniosynostosis, Aqueductal stenosis, Abnormality of retinal pigmentation, Turricephaly, Agenesi...	ORPHA:1496
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Camptodactyly, Abnormal helix morphology, Pigmentary retinopathy, Hepatomegaly,...	OMIM:214110
Joubert Syndrome 8	Pigmentary retinopathy, Occipital encephalocele, Optic disc pallor, Hepatomegaly, Molar tooth sig...	OMIM:612291
Cartilage-Hair Hypoplasia	Spinal dysraphism, Aplasia/Hypoplasia of the abdominal wall musculature, Low-set, posteriorly rot...	ORPHA:175
Hemochromatosis, Type 1	Arrhythmia, Cardiomyopathy, Hepatomegaly, Telangiectasia, Hyperpigmentation of the skin, Congesti...	OMIM:235200
Achondrogenesis, Type Ia	Increased nuchal translucency, Low-set ears, Short neck, Hydrops fetalis, Polyhydramnios, Stillbi...	OMIM:200600
Retinitis Pigmentosa 84	Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:618220
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Abnormality of retinal pigmentation	ORPHA:2743
Heterotaxy, Visceral, 1, X-Linked	Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Atriove...	OMIM:306955
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abnormal jugular vein...	ORPHA:1677
Ulnar Agenesis And Endocardial Fibroelastosis	Endocardial fibroelastosis, Hydrops fetalis, Neonatal death	OMIM:276822
Branchiootic Syndrome 3	Branchial cyst, Sensorineural hearing impairment	OMIM:608389
Linear Skin Defects With Multiple Congenital Anomalies 1	Colpocephaly, Iris coloboma, Hydrocephalus, Ventricular septal defect, Arrhythmia, Pigmentary ret...	OMIM:309801
Narp Syndrome	Abnormal mitochondria in muscle tissue, Retinal pigment epithelial mottling, Optic disc pallor, H...	ORPHA:644
Mucopolysaccharidosis Type 3	Reduced left ventricular ejection fraction, Pigmentary retinopathy, Abnormal mitral valve morphol...	ORPHA:581
Alpha-Thalassemia	Splenomegaly, Hydrops fetalis	ORPHA:846
Peroxisome Biogenesis Disorder 5A (Zellweger)	Ventricular septal defect, Atrial septal defect, Pigmentary retinopathy, Hepatomegaly, Tricuspid ...	OMIM:614866
Arthrogryposis, Distal, Type 5	Distal arthrogryposis, Protruding ear, Decreased muscle mass, Abnormality of retinal pigmentation...	OMIM:108145
15Q24 Microdeletion Syndrome	Myelomeningocele, Abnormal heart morphology, Hearing impairment, Congenital diaphragmatic hernia,...	ORPHA:94065
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli...	OMIM:304020
Abruzzo-Erickson Syndrome	Conductive hearing impairment, Iris coloboma, Atrial septal defect, Chorioretinal coloboma, Macro...	ORPHA:921
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Dolichocephaly, Cystic hygroma, Ascites, Hydrops fetalis	OMIM:614091
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Frontal bossing, Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly	OMIM:619064
Retinitis Pigmentosa 54	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin...	OMIM:613428
Stargardt Disease	Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti...	ORPHA:827
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Lymphedema, Cerebellar hypoplasia, Hearing impairment	ORPHA:3137
Juvenile Paget Disease	Hypertension, Abnormality of retinal pigmentation, Hearing impairment, Cranial hyperostosis, Opti...	ORPHA:2801
Osteogenesis Imperfecta, Type Ii	Nonimmune hydrops fetalis, Pulmonary insufficiency, Absent ossification of calvaria, Congestive h...	OMIM:166210
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy	ORPHA:75373
Hemochromatosis, Neonatal	Nonimmune hydrops fetalis, Oligohydramnios	OMIM:231100
Craniofaciofrontodigital Syndrome	Macroglossia, Pulmonary arterial hypertension, Mitral regurgitation, Edema, Ventricular septal de...	ORPHA:363705
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele, Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morpho...	ORPHA:280195
Naxos Disease	Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car...	OMIM:601214
Phocomelia, Schinzel Type	Calvarial skull defect, Protruding ear, Hydrops fetalis, Meningocele, Short neck	ORPHA:2879
Complete Atrioventricular Septal Defect	Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Abnormal EKG...	ORPHA:1329
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Calvarial skull defect, Coronal craniosynostosis, Low-set ears, Brachycephaly, Age...	ORPHA:228390
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone...	OMIM:617871
Cardiac Valvular Dysplasia 1	Tricuspid atresia, Mitral regurgitation, Double inlet left ventricle, Pulmonic stenosis, Ventricu...	OMIM:212093
Joubert Syndrome 2	Encephalocele, Thickened superior cerebellar peduncle, Low-set ears, Dysgenesis of the cerebellar...	OMIM:608091
Neonatal Adrenoleukodystrophy	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Dolichocephaly, Sensorine...	ORPHA:44
Joubert Syndrome With Oculorenal Defect	Encephalocele, Biparietal narrowing, Low-set, posteriorly rotated ears, Iris coloboma, Hydrocepha...	ORPHA:2318
Usher Syndrome, Type Iv	Retinal atrophy, Hyperautofluorescent macular lesion, Retinal degeneration, Progressive sensorine...	OMIM:618144
Farber Disease	Hepatosplenomegaly, Joint swelling, Hydrops fetalis, Macular degeneration, Skeletal muscle atroph...	ORPHA:333
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Cardiomegaly	ORPHA:88643
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Hearing impairment, Hypertrophic cardiomyopathy, Mitral valve prolapse, ...	ORPHA:2556
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Sensorineural hearing impairment, Abnormality of retinal pigmentation	ORPHA:3085
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Dysplastic aortic valve, Atrioventricular canal defect, Posteriorly ro...	ORPHA:508488
Histiocytoid Cardiomyopathy	Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Hydrocephalus...	ORPHA:137675
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Plagiocephaly, Brachycephaly, Holoprosencephaly, Abnormality of retinal pigment...	ORPHA:2163
Joubert Syndrome 1	Macroglossia, Plagiocephaly, Low-set ears, Occipital myelomeningocele, Dysgenesis of the cerebell...	OMIM:213300
Gaucher Disease Type 3	Pulmonary arterial hypertension, Hydrops fetalis, Hepatomegaly, Abnormal heart valve morphology, ...	ORPHA:77261
Multiple Pterygium Syndrome, Escobar Variant	Camptodactyly of toe, Camptodactyly, Arthrogryposis multiplex congenita, Conductive hearing impai...	OMIM:265000
Noonan Syndrome With Multiple Lentigines	Abnormal pulmonary valve morphology, Atrioventricular canal defect, Abnormal mitral valve morphol...	ORPHA:500
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatosplenomegaly, Hydrops fetalis, Hepatomegaly, Hypertrophic cardiomyopathy, Frontal bossing, ...	OMIM:613673
Hennekam Syndrome	Craniosynostosis, Camptodactyly of finger, Low-set ears, Conductive hearing impairment, External ...	ORPHA:2136
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
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Low-set ears, Short neck, Hypertension, Frontal bossing, Cardiom...	OMIM:613320
Retinitis Pigmentosa 68	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy	OMIM:615725
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal atrophy, Occipital encephalocele, Optic nerve hypoplasia, Cerebellar hypoplasia, Cerebell...	OMIM:236670
Retinitis Pigmentosa 80	Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:617781
Retinitis Pigmentosa 88	Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ...	OMIM:618826
Slc35A2-Cdg	Craniosynostosis, Camptodactyly of finger, Tetralogy of Fallot, Atrophy/Degeneration affecting th...	ORPHA:356961
Mucopolysaccharidosis Type 2, Severe Form	Abnormal pulmonary valve morphology, Camptodactyly of finger, Papilledema, Cardiomyopathy, Abnorm...	ORPHA:217085
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,...	OMIM:601718
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal pulmonary valve morphology, Camptodactyly of finger, Papilledema, Cardiomyopathy, Abnorm...	ORPHA:217093
Platyspondylic Dysplasia, Torrance Type	Polyhydramnios, Low-set ears, Hydrops fetalis	ORPHA:85166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Muscular dystrophy, Retinal degeneration, Hypoplasia of the brainstem, Sensorineur...	OMIM:615249
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Eem Syndrome	Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation	ORPHA:1897
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,...	ORPHA:75565
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Lateral ventricle dilatation, Retinal pigment epithelial mottling, Abnormal dentate nucleus morph...	OMIM:619517
Aplasia Cutis-Myopia Syndrome	Calvarial skull defect, Abnormality of retinal pigmentation	ORPHA:1117
Cohen Syndrome	Chorioretinal dystrophy, Decreased fetal movement, Iris coloboma, Ventricular septal defect, Abno...	ORPHA:193
Mitochondrial Trifunctional Protein Deficiency	Rhabdomyolysis, Mitral regurgitation, Left ventricular hypertrophy, Lower limb muscle weakness, A...	ORPHA:746
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mitral regurgitation, Overfolded helix, Tricuspid regurgitation, Atrial flutter, Aortic valve ste...	ORPHA:324410
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Aplasia of the inferior half of the cerebellar vermis, Hydrocephalus, Muscular dystrophy, Pigment...	OMIM:613154
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Macrotia	OMIM:613576
Fryns Microphthalmia Syndrome	Neural tube defect, Macrotia	OMIM:600776
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence...	OMIM:620102
Developmental And Epileptic Encephalopathy 95	Macroglossia, Cystic hygroma, Fetal akinesia sequence, Umbilical hernia, Posteriorly rotated ears...	OMIM:618143
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Sensorineural hearing impairment, Hydrops fetalis	OMIM:616738
Generalized Arterial Calcification Of Infancy	Stapes ankylosis, Calcification of the auricular cartilage, Ventricular hypertrophy, Hearing impa...	ORPHA:51608
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Pearson Syndrome	Dehydration, Hydrops fetalis, Pigmentary retinopathy, Cardiomyopathy, Hepatomegaly, Cafe-au-lait ...	ORPHA:699
Usher Syndrome	Tinnitus, Myopathy, Abnormal cardiovascular system physiology, Vestibular areflexia, Abnormality ...	ORPHA:886
Retinitis Punctata Albescens	Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, Cy...	ORPHA:52427
Arterial Calcification, Generalized, Of Infancy, 2	Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Hypertension...	OMIM:614473
Joubert Syndrome 28	Molar tooth sign on MRI, Pigmentary retinopathy, Optic disc pallor	OMIM:617121
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Anencephaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:614120
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Kearns-Sayre Syndrome	Arrhythmia, Pigmentary retinopathy, Cardiomyopathy, Sensorineural hearing impairment, Third degre...	OMIM:530000
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Macroglossia, Low-set ears, Redundant neck skin, Breech presentation, Ventricul...	OMIM:214100
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Abnormal pulmonary valve morphology, Pulmonic stenosis, Aplasia/Hypoplasia of the optic nerve, Op...	ORPHA:137634
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Ventricular tachycardia, Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy	OMIM:600649
Hsd10 Disease, Infantile Type	Cardiomegaly, Retinal degeneration, Hearing impairment, Hypertrophic cardiomyopathy, Optic atroph...	ORPHA:391428
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Alstrom Syndrome	Hyperostosis frontalis interna, Cone/cone-rod dystrophy, Pigmentary retinopathy, Hypertension, He...	OMIM:203800
Pigmented Paravenous Chorioretinal Atrophy	Vitreoretinopathy, Paravenous chorioretinal atrophy, Bone spicule pigmentation of the retina	OMIM:172870
Galactosialidosis	Hepatosplenomegaly, Nonimmune hydrops fetalis, Hearing impairment, Cherry red spot of the macula,...	OMIM:256540
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Spina bifida, Arrhythmia, Lymphedema, Coloboma, Rhabdomyosarcoma, Melanocytic...	ORPHA:2874
Retinitis Pigmentosa 13	Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ...	OMIM:600059
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti...	ORPHA:364055
Combined Oxidative Phosphorylation Deficiency 33	Cardiac arrest, Left ventricular hypertrophy, Myopathy, Cardiomyopathy, Hepatomegaly, Cerebral ed...	OMIM:617713
Joubert Syndrome With Renal Defect	Encephalocele, Biparietal narrowing, Low-set, posteriorly rotated ears, Iris coloboma, Hydrocepha...	ORPHA:220497
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Pulmonary arterial hypertension, Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic c...	OMIM:619051
Retinitis Pigmentosa 79	Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati...	OMIM:617460
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Increased nuchal translucency, Mitral regurgitation, Ventricular s...	OMIM:620066
Retinitis Pigmentosa 1	Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment...	OMIM:180100
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Posterior Column Ataxia With Retinitis Pigmentosa	Camptodactyly, Pigmentary retinopathy, Skeletal muscle atrophy, Flexion contracture of finger, Jo...	OMIM:609033
Cohen Syndrome	Chorioretinal dystrophy, Bone spicule pigmentation of the retina, Cerebellar hypoplasia, Mitral v...	OMIM:216550
Waardenburg-Shah Syndrome	Abnormal macular morphology, Premature graying of hair, Abnormality of retinal pigmentation, Whit...	ORPHA:897
Yunis-Varon Syndrome	Prominent antihelix, Protruding ear, Tetralogy of Fallot, Ventricular septal defect, Cardiomyopat...	OMIM:216340
Stevenson-Carey Syndrome	Low-set ears, Camptodactyly, Brachycephaly, Atrial septal defect, Posteriorly rotated ears, Cereb...	OMIM:611961
Mucolipidosis Ii Alpha/Beta	Craniosynostosis, Macroglossia, Camptodactyly, Diastasis recti, Mitral regurgitation, Arthrogrypo...	OMIM:252500
Micro Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cerebellar vermis hypopla...	ORPHA:2510
Duplication Of The Pituitary Gland	Encephalocele, Abnormality of masseter muscle, Short neck, Brachyturricephaly, Polyhydramnios, Mi...	ORPHA:314621
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Lymphatic Malformation 1	Nonimmune hydrops fetalis, Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema	OMIM:153100
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Craniosynostosis, Prominent antitragus, Low-set ears, Brachycephaly, Webbed neck, Atrial septal d...	OMIM:245600
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Myopathy, Arrhythmia, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly	ORPHA:42
Retinitis Pigmentosa 28	Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:606068
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Biparietal narrowing, Protruding ear, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of ...	ORPHA:2518
Fraser Syndrome 3	Nonimmune hydrops fetalis, Low-set ears, Hydrocephalus, Stillbirth, Sonographic non-visualized fe...	OMIM:617667
Branchiooculofacial Syndrome	Fusion of middle ear ossicles, Low-set ears, Microtia, Conductive hearing impairment, Iris colobo...	OMIM:113620
Leigh Syndrome	Pigmentary retinopathy, Focal substantia nigra T2 hyperintensity, Sensorineural hearing impairmen...	OMIM:256000
Mucopolysaccharidosis, Type Iiib	Asymmetric septal hypertrophy, Hepatomegaly, Dense calvaria, Hearing impairment, Cardiomegaly, Sp...	OMIM:252920
Retinitis Pigmentosa 2	Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Chorioretinal...	OMIM:312600
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly, Prominent antihelix, Posteriorly rotated ears, Hearing impairment	ORPHA:466950
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint swelling, Decreased muscle mass, Arrhythmia, Cardiomyopathy, Elevated jugular venous pressu...	ORPHA:465508
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Canavan Disease	Flexion contracture, Optic atrophy, Hearing impairment, Abnormality of retinal pigmentation	ORPHA:141
Mogs-Cdg	Hepatosplenomegaly, Absent brainstem auditory responses, Atrial septal defect, Left ventricular h...	ORPHA:79330
Congenital Tricuspid Valve Dysplasia	Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hep...	ORPHA:555874
Bardet-Biedl Syndrome 17	Situs inversus totalis, Macular atrophy, Dextrocardia, Cone/cone-rod dystrophy, Retinal degenerat...	OMIM:615994
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Brachycephaly, Abnormality of retinal pigmentation	ORPHA:1173
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Pulmonary arterial hypertension	OMIM:619059
Wolfram Syndrome 1	Pigmentary retinopathy, Sensorineural hearing impairment, Optic atrophy, Cardiomyopathy	OMIM:222300
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Low-set ears, Retinal pigment epithelial mottling, Dolichocephaly, Midface retrusion	OMIM:617102
Proteus Syndrome	Calvarial hyperostosis, Abnormality of the neck, Myofibrillar myopathy, Multiple cafe-au-lait spo...	ORPHA:744
Multiple Sulfatase Deficiency	Hydrocephalus, Hepatomegaly, Abnormality of retinal pigmentation, Sensorineural hearing impairmen...	ORPHA:585
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Lymphangiectasia, Pulmonary, Congenital	Nonimmune hydrops fetalis, Chylous ascites, Edema, Polyhydramnios, Facial edema, Palpebral edema,...	OMIM:265300
Joubert Syndrome 39	Hypoplastic left heart, Joint contracture of the 5th finger, Occipital encephalocele, Molar tooth...	OMIM:619562
Melas	Abnormal mitochondria in muscle tissue, Pulmonary arterial hypertension, Concentric hypertrophic ...	ORPHA:550
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Frontal bossing, Retinal pigment epithelial mottling, Lateral ventricle dilatation	OMIM:614105
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Low-set ears, Antenatal intracerebral hemorrhage, Enlarged kidney, Agenesis of corpus callosum, A...	OMIM:608836
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Facial telangiectasia in butterfly midface distribution, Freckling, Nonimmune hydrops fetalis, Te...	OMIM:137940
Bohring-Opitz Syndrome	Bilateral wrist flexion contracture, Low-set, posteriorly rotated ears, Retinal atrophy, Trigonoc...	ORPHA:97297
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation	OMIM:300843
Morning Glory Disc Anomaly	Optic disc coloboma, Retinal detachment, Abnormality of retinal pigmentation	ORPHA:35737
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Hypertension, Cerebellar hypoplasia, Premature birth, Cardiomegaly	OMIM:618886
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Camptodactyly of toe, Abnormal pinna morphology, Abnormal helix morphology, Ca...	ORPHA:158687
Cantú Syndrome	Short neck, Umbilical hernia, Low posterior hairline, Abnormal heart valve morphology, Patent duc...	ORPHA:1517
Absence Of The Pulmonary Artery	Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ej...	ORPHA:980
Chédiak-Higashi Syndrome	Hepatosplenomegaly, Iris hypopigmentation, Edema, Spotty hyperpigmentation, Large clumps of pigme...	ORPHA:167
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation	ORPHA:873
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, Tricuspid regurgitation	OMIM:600151
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Mottled pigmentation of photoexposed areas, Dehydration, Pigmentary retinopathy, Hepatomegaly, He...	OMIM:560000
Jalili Syndrome	Macular atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Optic disc pallor,...	OMIM:217080
Glycogen Storage Disease Ii	Subarachnoid hemorrhage, Macroglossia, Wolff-Parkinson-White syndrome, Right axis deviation, Sinu...	OMIM:232300
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Mucolipidosis Type Iv	Retinopathy, Biparietal narrowing, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal...	ORPHA:578
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Skeletal muscle steatosis, Bilateral sensorineural hearing impairment, Pigmentary retinopathy, He...	ORPHA:436271
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mitral regurgitation, Fiber type grouping, Myopathy, Weakness of facial musculature, Retinal pigm...	OMIM:607459
Severe Oculo-Renal-Cerebellar Syndrome	Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of retinal pigmenta...	ORPHA:2715
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Weakness of facial musculature, Pigmentary retinopathy, Hepatomegaly, Sensorineural hearing impai...	OMIM:220110
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Heart block, Arrhythmia, Cardiomyopathy, Hepatomegaly, Abnormal myocardium morphol...	ORPHA:228308
Cockayne Syndrome A	Retinal atrophy, Abnormal pinna morphology, Arrhythmia, Retinal pigment epithelial mottling, Pigm...	OMIM:216400
Peroxisome Biogenesis Disorder 12A (Zellweger)	Decreased fetal movement, Atrial septal defect, Hydrocephalus, Double outlet right ventricle, Pat...	OMIM:614886
Retinitis Pigmentosa 12	Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment...	OMIM:600105
Semilobar Holoprosencephaly	Abnormal heart rate variability, Cyclopia, Hydrocephalus, Abnormal brainstem morphology, Abnormal...	ORPHA:220386
Alobar Holoprosencephaly	Abnormal heart rate variability, Cyclopia, Hydrocephalus, Abnormal brainstem morphology, Abnormal...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal heart rate variability, Cyclopia, Hydrocephalus, Abnormal brainstem morphology, Abnormal...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal heart rate variability, Cyclopia, Hydrocephalus, Abnormal brainstem morphology, Abnormal...	ORPHA:93924
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chorioretinal dysplasia, Pleural effusion, Protruding ear, Atrial septal defect, Edema, Retinal d...	ORPHA:2526
Beck-Fahrner Syndrome	Brachycephaly, Protruding ear, Ventricular septal defect, Cardiomegaly, Facial hypotonia	OMIM:618798
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Hearing impairment, Pulmonary edema, Amyloid deposition in the vitreous humor, Se...	OMIM:105210
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Reduced left ventricular ejection fraction, Hepatomegaly, Sudden...	OMIM:201475
Vitreoretinochoroidopathy	Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar...	OMIM:193220
Isolated Posterior Meningocele	Hydrocephalus, Meningocele, Hydromyelia, Lipomyelomeningocele, Limitation of neck motion, Occipit...	ORPHA:268810
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ...	ORPHA:79435
Aicardi Syndrome	Plagiocephaly, Protruding ear, Partial agenesis of the corpus callosum, Retinal detachment, Abnor...	ORPHA:50
Aceruloplasminemia	Torticollis, Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration, Con...	ORPHA:48818
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Heart murmur, Cardiomegaly	ORPHA:99931
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Proximal muscle weakness in lower limbs, Reduced left ventricular ejection fraction...	ORPHA:268
Carnitine Palmitoyltransferase I Deficiency	Arrhythmia, Cardiomegaly, Hepatomegaly	OMIM:255120
Werner Syndrome	Premature graying of hair, Hypertension, Skeletal muscle atrophy, Abnormality of retinal pigmenta...	ORPHA:902
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Short neck, Pigmentary retinopathy, Hypertension, Skeletal mus...	ORPHA:110
Khan-Khan-Katsanis Syndrome	Colpocephaly, Pigmentary retinopathy, Tricuspid regurgitation, Patent foramen ovale, Sensorineura...	OMIM:618460
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Palpebral edema, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiec...	OMIM:607823
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly, Congestive heart failure, Optic atrophy, Cerebellar atrophy, Limb m...	OMIM:619259
Holoprosencephaly 7	Iris coloboma, Partial agenesis of the corpus callosum, Hydrocephalus, Flat occiput, Lobar holopr...	OMIM:610828
Craniofacial Microsomia	Conductive hearing impairment, Underdeveloped tragus, Ventricular septal defect, Tetralogy of Fal...	OMIM:164210
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Witteveen-Kolk Syndrome	Uplifted earlobe, Contracture of the distal interphalangeal joint of the 4th finger, Iris colobom...	OMIM:613406
Oculocutaneous Albinism Type 2	Blue irides, Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Optic nerve misrouting, I...	ORPHA:79432
Paternal Uniparental Disomy Of Chromosome 6	Macroglossia, Dehydration, Abnormal placenta morphology, Ventricular septal defect, Umbilical her...	ORPHA:96191
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal optic disc morphology, Iris coloboma, Spina bifida, Ventricular septal defect, Tetralogy...	ORPHA:508498
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Macular atrophy, Retinal atrophy, Cone/cone-rod dystrophy, Retinal thinning, Abnormality of retin...	ORPHA:85167
Hemimegalencephaly	Cranial asymmetry, Optic atrophy	ORPHA:99802
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Plagiocephaly, Camptodactyly of finger, Mitral regurgitation, Umbilical hernia, Tricuspid valve p...	ORPHA:1101
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Prolonged QT interval, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	ORPHA:71212
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction, Low-outpu...	ORPHA:308552
Cerebrooculonasal Syndrome	Encephalocele, Craniosynostosis, Low-set ears, Conductive hearing impairment, Brachycephaly, Iris...	OMIM:605627
Cholestasis, Progressive Familial Intrahepatic, 5	Nonimmune hydrops fetalis, Pleural effusion, Ascites	OMIM:617049
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave, Low-set ears, Inferior cerebellar vermis hypoplasia, Ventricular septal defect, ...	ORPHA:444072
Retinitis Pigmentosa 83	Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret...	OMIM:618173
Hereditary Elliptocytosis	Frontal bossing, Splenomegaly, Hydrops fetalis	ORPHA:288
Blomstrand Lethal Chondrodysplasia	Low-set ears, Hydrops fetalis, Polyhydramnios, Natal tooth, Premature birth	ORPHA:50945
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Distal lower limb amyotrophy, Lower limb amyotrophy, Proximal muscle weakness in lower limbs, Spi...	ORPHA:466768
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Splenomegaly, Hydrops fetalis	OMIM:224120
Congenital Disorder Of Glycosylation, Type It	Rhabdomyolysis, Pulmonary arterial hypertension, Ventricular septal defect, Aborted sudden cardia...	OMIM:614921
Familial Aortic Dissection	Patent ductus arteriosus, Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation	ORPHA:229
Cockayne Syndrome B	Abnormal pinna morphology, Arrhythmia, Pigmentary retinopathy, Hypertension, Hepatomegaly, Delaye...	OMIM:133540
Orofaciodigital Syndrome Xiv	Low-set ears, Partial agenesis of the corpus callosum, Ventricular septal defect, Atrial septal d...	OMIM:615948
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:300029
Abetalipoproteinemia	Hypopigmentation of the fundus, Distal lower limb muscle weakness, Myopathy, Hepatomegaly, Abnorm...	ORPHA:14
Meckel Syndrome, Type 1	Camptodactyly of finger, Occipital encephalocele, Cerebellar hypoplasia, Webbed neck, Iris colobo...	OMIM:249000
Iniencephaly	Encephalocele, Spinal dysraphism, Low-set ears, Cystic hygroma, Spina bifida, Myelomeningocele, H...	ORPHA:63259
Cockayne Syndrome	Retinal atrophy, Pigmentary retinopathy, Hepatomegaly, Retinal dystrophy, Limb hypertonia, Hypert...	ORPHA:191
Retinitis Pigmentosa 86	Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:618613
Arima Syndrome	Agenesis of cerebellar vermis, Hypertension, Hepatomegaly, Brainstem dysplasia, Occipital meningo...	OMIM:243910
Gaucher Disease, Type Iiic	Mitral stenosis, Hydrocephalus, Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomeg...	OMIM:231005
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Weakness of facial musculature, Pigmentary retinopathy, Optic disc pallor, Increased muscle glyco...	ORPHA:502423
Retinitis Pigmentosa 77	Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r...	OMIM:617304
Ogden Syndrome	Secundum atrial septal defect, Enlarged kidney, Ventricular septal defect, Atrial septal defect, ...	OMIM:300855
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Mucosal telangiectasiae, Low posterior hairline, Small hypothenar eminence, Dolichocephaly, Thena...	ORPHA:2463
Retinitis Pigmentosa 56	Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:613581
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hypermelanotic macule, Pigmentary retinopathy, Hypertension,...	ORPHA:90321
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Abnormality of retinal pigmentation	ORPHA:2521
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264

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