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Gene: Ssr1 MGI:105082

Gene Summary

Name:

signal sequence receptor, alpha

Synonyms:

TRAPalpha, SSR

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage	P Value
cataract	Ssr1^em1(IMPC)Mbp	HET	Early adult	2.80×10^-08
abnormal blood vessel morphology	Ssr1^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged testis	Ssr1^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Ssr1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Ssr1^em1(IMPC)Mbp	HET	Early adult	0.00
microphthalmia	Ssr1^em1(IMPC)Mbp	HET	E15.5	0.00
small liver	Ssr1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Ssr1^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Ssr1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal testis morphology	Ssr1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta size	Ssr1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal liver morphology	Ssr1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Ssr1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Ssr1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Ssr1^em1(IMPC)Mbp	HET	E15.5	0.00
small kidney	Ssr1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal vitreous body morphology	Ssr1^em1(IMPC)Mbp	HET	Early adult	9.70×10^-05
abnormal skin morphology	Ssr1^em1(IMPC)Mbp	HET	Early adult	0.00
edema	Ssr1^em1(IMPC)Mbp	HOM	E15.5	0.00
persistence of hyaloid vascular system	Ssr1^em1(IMPC)Mbp	HET	Early adult	1.60×10^-05
abnormal placenta vasculature	Ssr1^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Ssr1^em1(IMPC)Mbp	HOM	E15.5	0.00

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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.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

11 Images

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Human diseases caused by Ssr1 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 Ssr1 (0 diseases)
Human diseases predicted to be associated with Ssr1 (1012 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ssr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ethanolaminosis	Death in infancy, Cardiomegaly	OMIM:227150
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r...	OMIM:620294
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Chromosome 22Q11.2 Deletion Syndrome, Distal	Intrauterine growth retardation, Truncus arteriosus	OMIM:611867
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Pedal edema, Abnormal heart morpho...	ORPHA:2041
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon...	OMIM:618845
Atrial Fibrillation, Familial, 10	Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement	OMIM:614022
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Intrauterine growth retardation, Truncus arteriosus, Abnormal aortic morphology, Ventricular sept...	ORPHA:2516
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Cataract, Chorioretinal coloboma	OMIM:274205
Idiopathic/Heritable Pulmonary Arterial Hypertension	Right ventricular dilatation, Hepatomegaly, Pedal edema	ORPHA:422
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulm...	OMIM:615415
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Adams-Oliver Syndrome 6	Splenomegaly, Truncus arteriosus, Ventricular septal defect	OMIM:616589
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor...	OMIM:617478
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation	OMIM:615616
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Right ventricular dilatation	OMIM:618920
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ...	ORPHA:3426
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Right ventricular dilatation, Right ventricular hypertrophy	OMIM:253700
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di...	OMIM:612863
Peripartum Cardiomyopathy	Left atrial enlargement, Myocarditis, Dilated cardiomyopathy, Abnormal atrioventricular valve mor...	ORPHA:563
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus	OMIM:617516
Verheij Syndrome	Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect	OMIM:615583
Microphthalmia, Syndromic 9	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Coarctation of aort...	OMIM:601186
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy	OMIM:619705
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation	ORPHA:369847
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Acrocardiofacial Syndrome	Death in infancy, Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal...	ORPHA:2008
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth...	OMIM:620135
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Pedal edema, Abnorma...	ORPHA:980
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Emanuel Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, At...	OMIM:609029
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Right ventricular dilatation, Hepatomegaly	ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Cardiomegaly, Death in childhood, Neonatal death, Hypertrophic cardiomyopathy	OMIM:614096
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Atrial Septal Defect, Sinus Venosus Type	Right ventricular dilatation, Stroke, Anomalous pulmonary venous return	ORPHA:99105
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis...	ORPHA:229
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Pedal edema, Dilatation of the cerebral arte...	ORPHA:615
Galactosemia Ii	Cataract, Galactosuria, Prolonged neonatal jaundice	OMIM:230200
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Emanuel Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, At...	ORPHA:96170
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Patent duct...	OMIM:600001
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Optic disc pallor, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Tetralogy Of Fallot	Intrauterine growth retardation, Tetralogy of Fallot	ORPHA:3303
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Intrauterine growth retardation	OMIM:616570
Nanophthalmos	Microphthalmia	ORPHA:35612
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Premature ovarian insufficiency, Congenital hepati...	ORPHA:3156
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Partington Syndrome	Macroorchidism	ORPHA:94083
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At...	OMIM:306955
Nanophthalmos 4	Microphthalmia	OMIM:615972
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect...	OMIM:618316
Cardiomyopathy, Familial Hypertrophic, 27	Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept...	OMIM:618052
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Transient ischemic attack, Anomalous pulmonary venous return, Right vent...	ORPHA:99104
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Polyembryoma	Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Irregular menstruat...	ORPHA:180229
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Right ventricular dilatation, Peripheral edema, Left ventricular hypertr...	ORPHA:99106
Galactosemia Iv	Cataract, Prolonged neonatal jaundice	OMIM:618881
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrops fetalis, Death in childhood, Ascites	OMIM:269920
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot	OMIM:615542
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor...	ORPHA:562
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly, Optic atrophy	OMIM:611721
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph...	OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot	ORPHA:1919
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Congenital Toxoplasmosis	Hepatomegaly, Intrauterine growth retardation, Ascites, Cardiomegaly	ORPHA:858
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Renal Tubular Dysgenesis	Tetralogy of Fallot, Polyhydramnios, Oligohydramnios	ORPHA:3033
Alg9-Cdg	Hepatomegaly, Ventricular septal defect, Pericardial effusion, Hydrops fetalis, Abnormal heart mo...	ORPHA:79328
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Laurence-Moon Syndrome	Hypoplasia of penis, Cataract, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, ...	ORPHA:2377
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Death in childhood, Hepatomegaly, Death in infancy, Cardiomegaly	OMIM:619064
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Male hypogonadism, Juvenile cataract	OMIM:300055
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia...	OMIM:270100
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly	OMIM:618838
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Atrial Septal Defect, Ostium Secundum Type	Transient ischemic attack, Pedal edema, Right ventricular dilatation, Stroke, Abnormal mitral val...	ORPHA:99103
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis...	OMIM:613313
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis, ...	OMIM:256550
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Meacham Syndrome	Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a...	OMIM:608978
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ...	OMIM:115197
Biemond Syndrome Type 2	Microphthalmia, Short stature, Delayed puberty	ORPHA:141333
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Hydrops fetalis, Pericardial constriction, Intra...	OMIM:253250
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Fragile X Syndrome	Macroorchidism	ORPHA:908
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cryptorchidism, Cataract, Chorioretinal coloboma	ORPHA:2489
Distal 22Q11.2 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation, Truncus arterio...	ORPHA:261330
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Atri...	ORPHA:101028
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo...	OMIM:601005
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Fetal Trimethadione Syndrome	Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin...	ORPHA:1913
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A...	OMIM:602390
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Pulmonary artery atre...	OMIM:301056
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle	OMIM:614886
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Intrauterine growth retardation	OMIM:619003
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria	OMIM:204000
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At...	ORPHA:371428
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ...	OMIM:239850
Isolated Dandy-Walker Malformation	Tetralogy of Fallot	ORPHA:217
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hydrops fetalis, Endocardial fibroelastosis	OMIM:276822
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes	ORPHA:3055
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios	OMIM:618624
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Alpha-N-Acetylgalactosaminidase Deficiency	Lymphedema, Cardiomegaly	ORPHA:3137
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616171
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Cat-Eye Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:195
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Iris coloboma	OMIM:618874
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Pedal edema, Atrial septal defect, Patent foram...	ORPHA:439
Galactose Mutarotase Deficiency	Hepatomegaly, Cataract, Decreased liver function, Cholestasis	ORPHA:570422
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Ventricular septal defect, Tetralogy of Fallot, Coarctation of aorta, Peri...	ORPHA:508498
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Conjunctivitis, Hemophag...	OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ...	ORPHA:1473
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Wolcott-Rallison Syndrome	Hepatomegaly, Dehydration, Atrial septal defect, Double outlet right ventricle, Ascites	ORPHA:1667
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Short stature	OMIM:610023
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular dilatation, Edema, Right atrial enlargement	ORPHA:70591
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Microphthalmia, Syndromic 13	Microphthalmia, Short stature	OMIM:300915
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Myocardial sarcomeric disarray, Cerebral hemorrhage, Myofiber disarray, ...	OMIM:619897
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Abnormality of the liver, Cataract, Hypergonadotropic hypogonadism	OMIM:614307
Cofs Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1466
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Dehydration, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic...	OMIM:212140
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Optic atrophy, Retinal degeneration, Reduced sperm motility	OMIM:602271
Mmep Syndrome	Microphthalmia	ORPHA:3434
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma	ORPHA:363741
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Edema, Patent ductus arteriosus, Perimembranous ventricular septa...	OMIM:608104
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism	ORPHA:1381
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Galactosemia I	Hepatomegaly, Hemolytic anemia, Cataract, Premature ovarian insufficiency, Elevated circulating a...	OMIM:230400
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right...	ORPHA:2326
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells	OMIM:269840
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism, Cardiomegaly	ORPHA:324410
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At...	OMIM:619472
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,...	ORPHA:2847
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:607598
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom...	OMIM:235200
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Macroorchidism,...	ORPHA:90790
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Stroke, Left ventricular hypert...	ORPHA:85451
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Klippel-Trénaunay Syndrome	Hepatomegaly, Peripheral arteriovenous fistula, Edema, Venous insufficiency, Patent ductus arteri...	ORPHA:90308
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund...	ORPHA:290
Trisomy 20P	Hypospadias, Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Macroorchidism, Hyd...	ORPHA:261318
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Intrauterine growth ret...	OMIM:617713
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Impotence, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Optic atrophy, H...	ORPHA:791
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Abnormal vena...	ORPHA:163956
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Transposition of the great arteries, Neonatal death, Atrioventricul...	OMIM:314390
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Pleural effusion, Intra...	OMIM:616897
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hypogonadism, Cryptorchidism, Cataract, Retinal coloboma	OMIM:601794
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Polyhydramnios, Retinal arteriola...	ORPHA:567
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	ORPHA:172
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary...	OMIM:212093
Hartsfield Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:2117
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Fanconi Anemia, Complementation Group O	Neonatal death, Death in infancy, Miscarriage, Abnormal heart morphology	OMIM:613390
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Intrauterine growth r...	OMIM:617022
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi...	ORPHA:91387
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Microgastria-Limb Reduction Defect Syndrome	Atrial septal defect, Hepatomegaly, Truncus arteriosus	ORPHA:2538
Arterial Calcification, Generalized, Of Infancy, 1	Coronary artery calcification, Cardiomegaly, Carotid artery calcification, Dilated cardiomyopathy...	OMIM:208000
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Hypo...	ORPHA:508488
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Cirrhotic Cardiomyopathy	Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Peripheral edema, Left vent...	ORPHA:57777
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Fetal Encasement Syndrome	Tetralogy of Fallot	OMIM:613630
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Arterial calcification, Coronary artery calcification, Cardiomegaly	OMIM:614473
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ...	ORPHA:3097
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:48431
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ...	ORPHA:2306
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral r...	OMIM:216360
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Joubert Syndrome 22	Microphthalmia, Intrauterine growth retardation	OMIM:615665
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis	OMIM:618223
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi...	OMIM:214110
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine growth ...	OMIM:618839
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Optic atrophy, Neutropenia, Pa...	ORPHA:79312
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Galactokinase Deficiency	Hepatomegaly, Cataract, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hepatosp...	ORPHA:79237
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ...	OMIM:612474
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth retardation, Hyp...	OMIM:618835
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Isolated Thyroid-Stimulating Hormone Deficiency	Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Thyroid hypoplasia, Increa...	ORPHA:90674
Pseudo-Torch Syndrome 3	Death in infancy, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,...	OMIM:208540
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in childhood, Death in infancy, Vascular dilatation, Cardiomegaly	OMIM:613320
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen...	ORPHA:158057
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Corneal opacity, Abnormality of the tonsils	ORPHA:93476
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration	OMIM:614292
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia...	ORPHA:251071
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Testicu...	ORPHA:744
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ...	OMIM:611490
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:603194
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature	OMIM:251270
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Death in infancy, Cardiomegaly	OMIM:201475
Retinitis Pigmentosa 84	Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma	OMIM:618220
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri...	ORPHA:1596
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Prune Belly Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, O...	ORPHA:2970
Meckel Syndrome, Type 8	Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia	OMIM:613885
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro...	OMIM:222300
Triploidy	Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the pancreas, Cryptorchi...	ORPHA:3376
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Peripheral edema, Right ventricular...	ORPHA:1677
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis	OMIM:240500
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Diamond-Blackfan Anemia 7	Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Patent ductus arteriosu...	OMIM:612562
Mogs-Cdg	Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Atrial se...	ORPHA:79330
Diabetic Embryopathy	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Abnormal aor...	ORPHA:1926
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Int...	ORPHA:96191
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni...	ORPHA:79477
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Seckel Syndrome 2	Growth delay, Microphthalmia, Short stature	OMIM:606744
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Joubert Syndrome 9	Cataract, Hepatic fibrosis, Astigmatism, Stage 5 chronic kidney disease	OMIM:612285
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Vasculitis, Ascending tubular ...	ORPHA:2331
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Microcytic anemia, Elevated circulating alanine aminotransferase concentr...	OMIM:618805
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Hepatospleno...	OMIM:608013
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Giant Cell Arteritis	Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent...	ORPHA:397
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni...	OMIM:603903
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
Hypogonadism-Cataract Syndrome	Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal...	OMIM:240950
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic...	ORPHA:585
Cerebrooculofacioskeletal Syndrome 2	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:610756
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	OMIM:300863
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cardiomegaly	ORPHA:158687
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte...	ORPHA:2255
Warsaw Breakage Syndrome	Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Colob...	OMIM:610125
Digeorge Syndrome	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Interrupted aortic arch, Trunc...	OMIM:188400
Warburg Micro Syndrome 1	Microphthalmia, Short stature	OMIM:600118
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Alagille Syndrome 2	Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis	OMIM:610205
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ...	ORPHA:2334
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Short stature, Unilateral microphthalmos	OMIM:619318
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Cold Agglutinin Disease	Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Pierpont Syndrome	Microphthalmia, Short stature	OMIM:602342
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Carney Complex	Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnorma...	ORPHA:1359
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia	OMIM:614833
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Sandhoff Disease	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Death in childhood, Cherry red spot of the macula	OMIM:268800
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Pigmentary retinopathy, Cholestati...	ORPHA:79095
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:611134
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Cantú Syndrome	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha...	ORPHA:91138
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Muscular edema, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Aspartylglucosaminuria	Hepatomegaly, Cataract, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism	OMIM:208400
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Patent ductus arteriosus, Mi...	OMIM:602782
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Neonatal death, Atrial septal de...	OMIM:620244
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great ar...	OMIM:280000
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm...	ORPHA:2969
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Short stature	OMIM:300887
Bresek Syndrome	Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	ORPHA:85284
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He...	OMIM:235555
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Oculopalatocerebral Syndrome	Microphthalmia, Short stature	OMIM:257910
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Amyloidosis, Hereditary, Transthyretin-Related	Stroke-like episode, Cardiomyopathy, Pulmonary edema, Cardiomegaly	OMIM:105210
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis	OMIM:617877
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g...	OMIM:265300
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Thrombocy...	OMIM:606003
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Neonatal death, Atrial septal defe...	OMIM:265380
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria	ORPHA:309288
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Cataract, Premature ovarian insufficiency, Female h...	OMIM:240300
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly	OMIM:306000
Aniridia-Absent Patella Syndrome	Aniridia, Cryptorchidism, Cataract	ORPHA:1069
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:261534
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundic...	OMIM:251290
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism, Hypercalciuria, Developmental cataract, Mucopolysacch...	OMIM:618440
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Baraitser-Winter Syndrome 2	Microphthalmia, Short stature	OMIM:614583
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Rhizomelia	ORPHA:93267
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	ORPHA:163966
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:99330
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata	OMIM:193230
Ververi-Brady Syndrome	Intrauterine growth retardation, Transposition of the great arteries	OMIM:617982
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Aspartylglucosaminuria	Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism	ORPHA:93
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros...	ORPHA:564
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl...	OMIM:300166
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Spl...	ORPHA:264580
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas...	ORPHA:1655
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism, Unilateral renal hypoplasia	OMIM:619950
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta, Short stature	OMIM:169550
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aorta	OMIM:614921
Glycogen Storage Disease Ii	Hepatomegaly, Subarachnoid hemorrhage, Cardiomegaly, Splenomegaly, Dilatation of the cerebral art...	OMIM:232300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob...	OMIM:212550
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili...	OMIM:609049
Thakker-Donnai Syndrome	Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Transposition of...	ORPHA:1780
Central Precocious Puberty In Male	Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males	ORPHA:649929
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short...	ORPHA:85194
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl...	ORPHA:398124
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Death in infancy, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiom...	OMIM:608836
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati...	OMIM:610199
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Thoracoabdominal Syndrome	Patent ductus arteriosus, Transposition of the great arteries, Ectopia cordis	OMIM:313850
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri...	OMIM:618280
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Rodrigues Blindness	Microphthalmia, Short stature	OMIM:268320
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Short stature	ORPHA:2788
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cyst, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspa...	OMIM:614866
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:228390
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism...	OMIM:235255
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic...	OMIM:243605
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ...	ORPHA:79240
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Papillorenal Syndrome	Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o...	OMIM:120330
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Corneal opacity	ORPHA:93474
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni...	OMIM:201000
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	ORPHA:158061
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Splenomegaly, Mucopolysacchariduria, Retinal degeneration	OMIM:272200
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lymphedema, Cardiomegaly	ORPHA:79280
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Mic...	ORPHA:3301
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Kleefstra Syndrome Due To 9Q34 Microdeletion	Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenos...	ORPHA:96147
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Short stature	ORPHA:3191
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:2470
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis...	OMIM:269200
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:3378
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos...	OMIM:618935
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos...	OMIM:253800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst...	ORPHA:464329
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei...	ORPHA:3202
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Hematuria...	ORPHA:77259
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos...	OMIM:300908
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Sandestig-Stefanova Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:618804
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Macular atrophy, Microvesicular hepatic steatosis, Splenomegaly, ...	OMIM:619418
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Keratoconjunctivitis ...	OMIM:617388
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:494344
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Charge Syndrome	Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Paten...	OMIM:214800
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Fetal Alcohol Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1915
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Short stature	OMIM:147250
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Hepatomegaly, Hypogonadism, Decreased testicular size	OMIM:201100
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Pentalogy Of Cantrell	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal pericardium morpho...	ORPHA:1335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema...	OMIM:203780
Joubert Syndrome 37	Microphthalmia, Short stature	OMIM:619185
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly	ORPHA:2189
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aort...	OMIM:620025
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616395
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Fetal ascites, Ascending aorta hypoplasia, Muscular ve...	OMIM:619503
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d...	OMIM:245600
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Fanconi Anemia, Complementation Group I	Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:609053
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Aneurysm Of Sinus Of Valsalva	Dilatation of the sinus of Valsalva, Stroke, Bacterial endocarditis, Edema	ORPHA:1054
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hemoly...	OMIM:277900
Chops Syndrome	Cataract, Splenomegaly, Cryptorchidism, Optic atrophy, Horseshoe kidney, Vesicoureteral reflux	OMIM:616368
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Cataract, Splenomegaly, Jaundice, Nuclear cataract, Stomatocytosis	OMIM:608885
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt...	ORPHA:169090
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:2728
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul...	OMIM:300972
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Monosomy 18P	Microphthalmia, Short stature	ORPHA:1598
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Microphthalmia, Anophthalmia	ORPHA:77298
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Abnormal anterior chamb...	OMIM:118450
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:243310
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno...	ORPHA:822
Syndromic Diarrhea	Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Splenomegaly, Patent ductus arter...	ORPHA:84064
Fanconi Anemia, Complementation Group S	Microphthalmia, Short stature	OMIM:617883
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome...	OMIM:276700
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Short stature	ORPHA:1791
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Cardiomyopathy, Hepatomegaly, Cardiomegaly	ORPHA:228308
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Short stature	OMIM:602361
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Splenomegaly, Jaundice...	OMIM:615512
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Stroke-like episode, Pulmonary edema	ORPHA:137675
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Warburg Micro Syndrome 4	Severe postnatal growth retardation, Microphthalmia, Short stature	OMIM:615663
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Short stature	ORPHA:2505
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal a...	OMIM:617913
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Biotinidase Deficiency	Hepatomegaly, Splenomegaly, Optic atrophy, Organic aciduria, Conjunctivitis	OMIM:253260
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Cataract, Retinal atrophy, Renal ...	ORPHA:90324
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation	OMIM:206920
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Death in childhood	OMIM:618278
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Thoracic aortic aneurysm, Cardiomegaly, Abnormal interna...	ORPHA:365
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1352
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Marden-Walker Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:248700
Ogden Syndrome	Peripheral pulmonary artery stenosis, Pulmonary edema, Bicuspid aortic valve, Left atrial enlarge...	OMIM:300855
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Short stature	OMIM:617306
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Fucosidosis	Splenomegaly, Hepatomegaly, Cherry red spot of the macula, Cardiomegaly	OMIM:230000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu...	OMIM:239200
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Micro Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty	ORPHA:2510
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste...	OMIM:612109
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Joubert Syndrome 14	Encephalocele, Microphthalmia, Meningocele, Growth delay	OMIM:614424
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation	ORPHA:2399
Eisenmenger Syndrome	Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Aortopulmonary wi...	ORPHA:97214
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos, Short stature	ORPHA:369891
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Thrombocytopenia, Cryptorc...	OMIM:305000
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Con...	OMIM:617591
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, L...	OMIM:260920
Atelis Syndrome 2	Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Developmental cataract	OMIM:620185
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Temtamy Syndrome	Microphthalmia	OMIM:218340
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Edema...	ORPHA:51608
Neu-Laxova Syndrome 1	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Transposition of...	OMIM:256520
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stage 5 chronic ki...	OMIM:249100
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia	OMIM:616920
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea...	OMIM:100300
Moebius Syndrome	Microphthalmia	OMIM:157900
Phace Syndrome	Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root...	ORPHA:42775
Kleefstra Syndrome 1	Conotruncal defect	OMIM:610253
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Corneal scarring, Conjunctivit...	OMIM:263700
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature	ORPHA:1806
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Acromelic Frontonasal Dysostosis	Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Male ...	OMIM:219800
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Palpebral edema, Cardiomegaly, Splenomegaly, Death in childhood, Hypertrophic cardi...	OMIM:252500
Familial Mediterranean Fever	Acute hepatic failure, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephroc...	ORPHA:342
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:244300
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ...	OMIM:608594
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas...	OMIM:269700
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:3412
Bohring-Opitz Syndrome	Intrauterine growth retardation, Abnormal cardiac septum morphology, Cardiomegaly	ORPHA:97297
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Microphthalmia, Short stature	ORPHA:35173
Doors Syndrome	Double outlet right ventricle, Polyhydramnios	ORPHA:79500
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Intrauterine growth retardation	OMIM:613451
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Short stature	OMIM:612530
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Short stature	OMIM:618571
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Microcephaly-Micromelia Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:251230
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve...	ORPHA:581
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly, Short stature	OMIM:619148
Fanconi Anemia, Complementation Group F	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:603467
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f...	ORPHA:3472
Refsum Disease	Microphthalmia	ORPHA:773
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro...	OMIM:153670
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Neon...	ORPHA:2839
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Pat...	OMIM:619991
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Cohen Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty	ORPHA:193
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Galloway-Mowat Syndrome 3	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:617729
Adams-Oliver Syndrome	Encephalocele, Microphthalmia	ORPHA:974
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney	OMIM:130650
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Short stature	OMIM:610651
Aicardi-Goutières Syndrome	Cardiomegaly, Calcification of the aorta, Hepatosplenomegaly, Aortic aneurysm, Hypertrophic cardi...	ORPHA:51
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Rhizomelia	OMIM:615877
Mosaic Trisomy 9	Microphthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:99776
Martsolf Syndrome 1	Microphthalmia, Short stature	OMIM:212720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Microphthalmia, Rhizomelia	OMIM:302960
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard...	OMIM:206900
Vater/Vacterl Association	Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Intraut...	OMIM:192350
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Trisomy 18	Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar...	ORPHA:3380
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, At...	ORPHA:904
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:251300
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia, Short stature	OMIM:257850
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
1Q21.1 Microdeletion Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:250989
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly	ORPHA:14
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Pleural effusion, Subvalvul...	OMIM:182250
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Short stature	OMIM:601675
Tetraamelia Syndrome 1	Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia...	OMIM:273395
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Microphthalmia, Lenz Type	Microphthalmia, Short stature	ORPHA:568
Restrictive Dermopathy	Dextrocardia, Polyhydramnios, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transpo...	ORPHA:1662
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract	ORPHA:637
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Fanconi Anemia, Complementation Group C	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:227645
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:364577
Dubowitz Syndrome	Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine...	OMIM:223370
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Cousin Syndrome	Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia	OMIM:260660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida	ORPHA:2092
Meckel Syndrome 14	Microphthalmia, Occipital encephalocele	OMIM:619879
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Severe short stature, Rhizomelia	ORPHA:85167
Duane-Radial Ray Syndrome	Microphthalmia, Spina bifida occulta, Optic disc hypoplasia	OMIM:607323
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Severe short stature, Short stature	OMIM:127000
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Fanconi Anemia, Complementation Group L	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:614083
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ...	OMIM:619539
Fanconi Anemia, Complementation Group E	Microphthalmia, Short stature	OMIM:600901
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia, Short stature	ORPHA:464
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia, Intrauterine growth retardation	OMIM:147791
Fanconi Anemia, Complementation Group A	Microphthalmia, Short stature	OMIM:227650
Momo Syndrome	Bilateral microphthalmos, Short stature	ORPHA:2563
Pallister-Hall Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:146510
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature, Spina bifida	OMIM:234100
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Beckwith-Wiedemann Syndrome	Hepatomegaly, Polyhydramnios, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromeg...	ORPHA:116
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine...	ORPHA:93325
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia, Rhizomelia	OMIM:616300
2Q31.1 Microdeletion Syndrome	Microphthalmia, Short stature	ORPHA:251014
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Mosaic Variegated Aneuploidy Syndrome	Growth delay, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1052
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Proteasome-Associated Autoinflammatory Syndrome 1	Splenomegaly, Hepatomegaly, Death in adolescence, Cardiomegaly	OMIM:256040
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Teebi-Shaltout Syndrome	Microphthalmia, Short stature	OMIM:272950
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Monosomy 13Q14	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1587
Holoprosencephaly	Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia	ORPHA:2162
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Short stature	OMIM:201180
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Short stature	OMIM:308300
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Umbilical hernia	ORPHA:2166
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, ...	OMIM:312870
Fryns Syndrome	Microphthalmia	ORPHA:2059
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia	ORPHA:959
Cockayne Syndrome B	Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intra...	OMIM:133540
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Severe postnatal growth retardation, Intrauterine growth retardation	OMIM:620005
Fanconi Anemia	Short stature, Spina bifida, Aplasia/Hypoplasia of the iris, Growth delay, Umbilical hernia, Micr...	ORPHA:84
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616975
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri...	OMIM:614976
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali...	ORPHA:64
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Trichothiodystrophy	Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation	ORPHA:33364
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia	OMIM:610829
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio...	OMIM:157170
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda...	OMIM:249000
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Roberts Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	ORPHA:3103
Bartsocas-Papas Syndrome 1	Microphthalmia, Intrauterine growth retardation	OMIM:263650
Aicardi Syndrome	Postnatal growth retardation, Microphthalmia, Spina bifida	OMIM:304050
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Short stature	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia, Short stature	OMIM:227646
Myhre Syndrome	Birth length less than 3rd percentile, Microphthalmia, Short stature, Intrauterine growth retarda...	OMIM:139210
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature	ORPHA:2108
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:620186
Chromosome 13Q14 Deletion Syndrome	Growth delay, Microphthalmia, Umbilical hernia	OMIM:613884
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Severe short stature, Anophthalmia	ORPHA:2526
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Short stature	OMIM:309801
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Short stature	OMIM:259770
Oculocerebrorenal Syndrome Of Lowe	Short stature, Buphthalmos, Umbilical hernia, Delayed puberty, Microphthalmia	ORPHA:534
Microphthalmia With Limb Anomalies	Microphthalmia, Short stature, True anophthalmia	ORPHA:1106
Aicardi Syndrome	Microphthalmia, Delayed puberty	ORPHA:50
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo...	ORPHA:468631
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
Mend Syndrome	Microphthalmia, Short stature	ORPHA:401973
Charge Syndrome	Anophthalmia, Short stature, Postnatal growth retardation, Delayed puberty, Microphthalmia, Intra...	ORPHA:138
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation	OMIM:608670
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Fontaine Progeroid Syndrome	Microphthalmia, Umbilical hernia, Short stature, Intrauterine growth retardation	OMIM:612289
Cockayne Syndrome	Severe short stature, Postnatal growth retardation, Growth delay, Delayed puberty, Microphthalmia	ORPHA:191
Microphthalmia With Linear Skin Defects Syndrome	Growth delay, Microphthalmia, Severe short stature, Anophthalmia	ORPHA:2556
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Focal Dermal Hypoplasia	Anophthalmia, Short stature, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina ...	OMIM:305600
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Short stature	OMIM:616734
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Degcags Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:619488
Monosomy 9P	Microphthalmia	ORPHA:261112
Fraser Syndrome	Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:2052
Fryns Syndrome	Microphthalmia	OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly, Intrauterine growth retardation	OMIM:236680
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Renpenning Syndrome 1	Microphthalmia, Short stature	OMIM:309500
Witteveen-Kolk Syndrome	Branchial fistula, Short stature, Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:613406
Holoprosencephaly 1	Microphthalmia, Short stature	OMIM:236100
Lowe Oculocerebrorenal Syndrome	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:309000
Branchiooculofacial Syndrome	Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt...	OMIM:113620
Pallister-Hall Syndrome	Microphthalmia, Umbilical hernia, Short stature, Intrauterine growth retardation	ORPHA:672
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Microphthalmia, Frontal encephalocele, Severe intrauterine growth r...	OMIM:268300
Mowat-Wilson Syndrome	Microphthalmia, Short stature	OMIM:235730
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Townes-Brocks Syndrome	Microphthalmia, Short stature, Delayed puberty	ORPHA:857
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Mowat-Wilson Syndrome	Growth delay, Microphthalmia, Short stature	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Short stature	ORPHA:261537
Craniofacial Microsomia 1	Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly	OMIM:164210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Short stature	ORPHA:261552
Microphthalmia, Syndromic 1	Growth delay, Microphthalmia, Anophthalmia	OMIM:309800

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 Ssr1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Ssr1.

No publications found that use IMPC mice or data for Ssr1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ssr1^em1(IMPC)Mbp	Exon Deletion	Mice
Ssr1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ssr1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ssr1 MGI:105082

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E14.5-E15.5

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

Human diseases caused by Ssr1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data