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Gene: Maf MGI:96909

Gene Summary

Name:

MAF bZIP transcription factor

Synonyms:

c-maf, A230108G15Rik, 2810401A20Rik

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
enlarged ovary	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal heart morphology	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
microphthalmia	Maf^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal liver size	Maf^em1(IMPC)Mbp	HOM	E15.5	0.00
edema	Maf^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal liver morphology	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal placenta vasculature	Maf^em1(IMPC)Mbp	HOM	E15.5	0.00
increased circulating bilirubin level	Maf^em1(IMPC)Mbp	HET	Early adult	2.27×10^-05
abnormal placenta morphology	Maf^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal blood vessel morphology	Maf^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged heart	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
preweaning lethality, complete penetrance	Maf^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal ovary morphology	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
small liver	Maf^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Maf^em1(IMPC)Mbp	HET	Early adult	0.00
increased freezing behavior	Maf^em1(IMPC)Mbp	HET	Early adult	1.55×10^-05
abnormal kidney morphology	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged kidney	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged spleen	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal liver morphology	Maf^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic growth retardation	Maf^em1(IMPC)Mbp	HOM	E15.5	0.00
decreased prepulse inhibition	Maf^em1(IMPC)Mbp	HET	Early adult	2.41×10^-08
small kidney	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged spleen	Maf^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal liver size	Maf^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal spleen morphology	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
microphthalmia	Maf^em1(IMPC)Mbp	HET	E15.5	0.00
urinary bladder obstruction	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
small spleen	Maf^em1(IMPC)Mbp	HET	Early adult	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.

X-ray

XRay Images Whole Body Dorso Ventral

128 Images

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Gross Morphology Embryo E14.5-E15.5

Images

28 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

40 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

64 Images

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Human diseases caused by Maf 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 Maf (4 diseases)
Human diseases predicted to be associated with Maf (1853 diseases)

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

Disease	Matching phenotypes	Source
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Aymé-Gripp Syndrome	Cataract, Craniosynostosis, Brachycephaly, Developmental cataract, Plagiocephaly, Megalocornea	ORPHA:1272
Ayme-Gripp Syndrome	Midface retrusion, Craniofacial asymmetry, Brachycephaly, Developmental cataract	OMIM:601088

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

Disease	Matching phenotypes	Source
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 41	Nuclear cataract	OMIM:116400
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Cataract 44	Developmental cataract	OMIM:616509
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Trichomegaly	Cataract	OMIM:190330
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:79235
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Congenital Primary Aphakia	Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,...	ORPHA:83461
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia, Coloboma	OMIM:251505
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract, Brachycephaly	ORPHA:2528
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Rotor Syndrome	Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he...	ORPHA:3111
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Spastic Paraparesis And Deafness	Tremor, Cataract	OMIM:312910
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia, Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun...	OMIM:619256
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Jaundice	OMIM:237450
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Cataract 11, Multiple Types	Cataract, Chorea, Developmental cataract, Hypertonia, Microphthalmia	OMIM:610623
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Gómez-López-Hernández Syndrome	Turricephaly, Corneal opacity, Brachycephaly, Midface retrusion	ORPHA:1532
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Nathalie Syndrome	Cataract	ORPHA:2663
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:120433
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hy...	OMIM:235555
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol...	OMIM:605814
Ethanolaminosis	Cardiomegaly	OMIM:227150
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin	ORPHA:890
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta...	OMIM:208540
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Increased total bilirubin, Abnormality of the pancreas	ORPHA:2924
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Galactosemia Iv	Cataract	OMIM:618881
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Polycystic liver disease, Increased total bilirubin	OMIM:174050
Optic Atrophy 3, Autosomal Dominant	Tremor, Cataract	OMIM:165300
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Cataract, Ectopic kidney, Neonatal death, Microphthalmia, Spasticity, Cystic re...	OMIM:613730
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Developmental c...	OMIM:231680
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Elevated urinary 7-biopterin level, Hypertonia	OMIM:264070
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Alexander Disease	Death in infancy, Ataxia, Babinski sign, Dysmetria, Death in adolescence, Spasticity, Death in ch...	OMIM:203450
Gombo Syndrome	Microphthalmia	OMIM:233270
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Xeroderma Pigmentosum, Complementation Group G	Cataract, Ataxia, Tremor, Microphthalmia, Spasticity	OMIM:278780
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Cataract, Non-acidotic proximal tubulopathy,...	ORPHA:1652
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Weill-Marchesani Syndrome 3	Shallow anterior chamber, Microspherophakia, Ectopia lentis	OMIM:614819
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
X-Linked Retinoschisis	Cataract	ORPHA:792
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ...	ORPHA:234
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th...	ORPHA:2869
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Death in infancy, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Am...	OMIM:613404
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Cataract 49	Posterior cortical cataract	OMIM:619593
Exfoliation Syndrome	Cataract, Rigidity, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition i...	OMIM:177650
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Familial Renal Glucosuria	Recurrent urinary tract infections, Insulin resistance, Renal tubular dysfunction, Enuresis, Glyc...	ORPHA:69076
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Dihydropyrimidine Dehydrogenase Deficiency	Tetraplegia, Coloboma, Uraciluria, Hypertonia, Microphthalmia	OMIM:274270
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, E...	OMIM:613885
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Edema, Intrauterine growth retardation	OMIM:616570
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract	OMIM:613581
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Hematuria, Chorioretinal coloboma, Microphthalmia, Posterior embryotox...	ORPHA:1473
Leber Congenital Amaurosis 2	Keratoconus, Cataract, Eye poking	OMIM:204100
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract	OMIM:273680
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Cerulean cataract	OMIM:616732
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Eye poking, Macular coloboma	OMIM:613835
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Tremor, Hyperinsulinemia, Renal Fanconi syndrome, Fasting hypoglycemia, Glycosuria, ...	ORPHA:263455
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Galactosemia Ii	Cataract	OMIM:230200
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Posterior plagiocephaly, Astigmatism, Compulsive behaviors, Attention deficit hype...	OMIM:619927
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract	OMIM:617547
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:610023
Trimethylaminuria	Splenomegaly, Depression, Anemia, Neutropenia	OMIM:602079
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Desanto-Shinawi Syndrome	Aggressive behavior, Brachycephaly, Astigmatism, Agitation, Attention deficit hyperactivity disor...	OMIM:616708
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Nanophthalmos 4	Microphthalmia	OMIM:615972
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Spondylo-Ocular Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto...	OMIM:251880
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Glucose/Galactose Malabsorption	Abnormal oral glucose tolerance, Glycosuria	OMIM:606824
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Nanophthalmos	Microphthalmia	ORPHA:35612
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj...	ORPHA:53035
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina,...	OMIM:608978
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, Aminoaciduria,...	OMIM:616026
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Cortical cataract	OMIM:616468
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketonuria, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase...	OMIM:614300
Fanconi-Bickel Syndrome	Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypercalciuria, Generalized ami...	ORPHA:2088
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Mody	Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli...	ORPHA:552
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Eye poking	OMIM:204000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Ataxia, Truncal ataxia, Renal tubular dysfunction, Death in child...	OMIM:220110
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Renal tubu...	ORPHA:436271
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue...	OMIM:194080
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Chorioretinal coloboma, Microphthalmia...	ORPHA:195
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne...	OMIM:300908
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Intrauterine growth retardation, Edema	OMIM:189800
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe...	OMIM:618280
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Self-injurious behavior, Brachycephaly, Aggressive behavior	OMIM:300699
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly, Aggressive behavior	OMIM:309530
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Hand tremor	ORPHA:401830
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Rabson-Mendenhall Syndrome	Enlarged ovaries, Ventricular septal defect, Precocious puberty, Long penis, Nephrocalcinosis, Ca...	ORPHA:769
Laurence-Moon Syndrome	Brachycephaly, Cataract, Iris coloboma	ORPHA:2377
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Ventricular septal defect, Hypospadias, Cryptorchidism, Vesicour...	ORPHA:2745
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Cataract, Brachycephaly, Dolichocephaly	ORPHA:272
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Midface retrusion	ORPHA:35099
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, U...	OMIM:600363
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Conjugated hyperbil...	OMIM:619484
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Thrombocytopenia, Increased circulati...	OMIM:603552
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hyponatremia, Hypertriglyceridemia, Sp...	OMIM:603553
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato...	ORPHA:464329
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated...	OMIM:619685
Wilson Disease	Limb dystonia, Hyperphosphaturia, Dystonia, Proteinuria, Poor motor coordination, Tremor, Rigidit...	OMIM:277900
Galactokinase Deficiency	Nuclear cataract, Cataract	ORPHA:79237
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Leukopenia, Hypertrophic cardiomyopath...	OMIM:617303
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Biliary cirrhosis, Polycystic ovaries...	ORPHA:2298
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	OMIM:617049
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Decreased liver function, Cirrhos...	OMIM:613280
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,...	ORPHA:508
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr...	ORPHA:91348
Leber Congenital Amaurosis 4	Keratoconus	OMIM:604393
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome...	OMIM:276700
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a...	OMIM:613490
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Po...	ORPHA:275555
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno...	ORPHA:822
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys...	OMIM:608836
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Turricephaly, Craniosynostosis, Brachycephaly, Self-injurious behavior, Skull asym...	OMIM:601853
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Coloboma, Developmental cataract	ORPHA:324416
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Brachycephaly, Craniosynostosis	ORPHA:178377
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Agg...	ORPHA:84081
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, U...	OMIM:221900
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Hypoglycemia, Ataxia, Abnormal pyramidal sign, Dysmetria, Microcornea, Microphthalmia, ...	ORPHA:48431
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero...	OMIM:203780
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Irritability, Thrombocytopenia	OMIM:615010
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul...	OMIM:227810
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Brachycephaly, Coloboma, Dysphagia, Microphthalmia	OMIM:612379
Adenylosuccinate Lyase Deficiency	Flat occiput, Brachycephaly	ORPHA:46
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Dia...	OMIM:137920
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Non-Distal Duplication 10Q	Frontal bossing, Aplasia/Hypoplasia affecting the eye, Brachycephaly	ORPHA:1695
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Brachycephaly, Microcornea, Midface retrusion, Limbal dermoid, Microp...	ORPHA:1791
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
2Q24 Microdeletion Syndrome	Microphthalmia, Cataract, Abnormality iris morphology, Coloboma	ORPHA:1617
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Pierpont Syndrome	Microcornea, Microphthalmia, Brachycephaly	ORPHA:487825
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells	OMIM:269840
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract, Brachycephaly, Midface retrusion	ORPHA:1387
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Nathalie Syndrome	Cataract	OMIM:255990
Intellectual Developmental Disorder, Autosomal Dominant 23	Astigmatism, Brachycephaly, Compulsive behaviors	OMIM:615761
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Crouzon Syndrome	Frontal bossing, Turricephaly, Brachycephaly, Multiple suture craniosynostosis, Conjunctivitis, I...	ORPHA:207
Coproporphyria, Hereditary	Splenomegaly, Hepatomegaly, Jaundice, Depression	OMIM:121300
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga...	ORPHA:30391
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Depression, Cholecystitis, ...	ORPHA:69665
Pierpont Syndrome	Microcornea, Microphthalmia, Brachycephaly, Midface retrusion	OMIM:602342
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis	OMIM:268650
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Irritability, Reduced haptoglobin level	OMIM:612126
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Jaundice, Hyper...	ORPHA:1667
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Astigmatism, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spast...	OMIM:617284
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Corneal crystals, Abnormal tubulointerstitial morphology, Renal tubular dysfun...	ORPHA:411629
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr...	OMIM:616299
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Urocanase Deficiency	Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Dystonia	OMIM:605909
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Peroxisomal Acyl-Coa Oxidase Deficiency	Frontal bossing, Brachycephaly, Dysphagia	OMIM:264470
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia, Polyphagia, Cholestasis	OMIM:609734
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Cebalid Syndrome	Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Polyphagia, Midface...	OMIM:618774
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Nuclear cataract	ORPHA:2848
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:79084
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines...	OMIM:213600
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular he...	OMIM:617156
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Bresek Syndrome	Hypoplasia of the bladder, Optic nerve hypoplasia, Renal hypoplasia, Neonatal death, Vesicoureter...	ORPHA:85284
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Restlessness, Hyperactivity, Aggressive behavior, Bilateral microphthalmos, Brachycephaly, Plagio...	ORPHA:369891
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Lens coloboma, Self-injurious behavior, Microphthalmia, Abnorma...	OMIM:618914
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Craniosynostosis, Brachycephaly, Self-injurious behavior, Astigmat...	OMIM:613174
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Recurrent hand flapping, Inappropriate laughter	OMIM:618859
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ...	OMIM:232800
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Tremor, Babinski sign, Renal tubular dysfunction, Glucose intolerance, Hypertonia, Glycosuria, Sp...	OMIM:616539
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Microphthalmia, Ascites, Intrauterine grow...	ORPHA:858
Thyrocerebrorenal Syndrome	Renal insufficiency, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Nephritis	ORPHA:3327
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Frequent falls	OMIM:160565
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Catarac...	OMIM:609049
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Corneal...	ORPHA:91495
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Microphthalmia, Syndromic 12	Neonatal death, Microphthalmia, Anophthalmia	OMIM:615524
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Blue irides, Plagiocephaly, Recurrent hand flapping, Self-mut...	OMIM:615516
Oculopalatocerebral Syndrome	Microphthalmia, Spasticity, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Cofs Syndrome	Cataract, Microphthalmia, Hypertonia, Death in infancy	ORPHA:1466
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Cystathioninuria	Tremor, Cystathioninuria, Nephrolithiasis	ORPHA:212
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Mirizzi Syndrome	Elevated hepatic transaminase, Anorexia, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbil...	ORPHA:521219
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis, Anemia	ORPHA:75563
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Biemond Syndrome Type 2	Microphthalmia, Hypospadias, Coloboma	ORPHA:141333
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Dysphagia	ORPHA:77260
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Dystonia, Myoclonus, Death in childhood	OMIM:619651
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:613101
Immunoneurologic Disorder, X-Linked	Neonatal death, Functional abnormality of the bladder, Spastic paraplegia	OMIM:300076
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcornea, Microphthalmia, Cataract	OMIM:616171
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomer...	OMIM:232200
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, An...	OMIM:615710
Joubert Syndrome 22	Oculomotor apraxia, Microphthalmia, Renal hypoplasia, Coloboma	OMIM:615665
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma...	ORPHA:276280
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Brachycephaly, Abnormally prominent line of Schwalbe	OMIM:109120
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Spinocerebellar Ataxia 48	Ataxia, Urinary incontinence, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia...	OMIM:618093
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom...	OMIM:235200
Developmental And Epileptic Encephalopathy 1	Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Hypertonia, Dystonia, Microphthal...	OMIM:308350
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Polyuria, Stage 5 chronic...	OMIM:219800
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney	OMIM:618188
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly	OMIM:620200
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Iris hypopigmen...	ORPHA:54
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Gorlin Syndrome	Frontal bossing, Brachycephaly, Cataract, Iris coloboma	ORPHA:377
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:614887
Graft Versus Host Disease	Elevated hepatic transaminase, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Lymphadenopathy, ...	ORPHA:39812
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Retinitis Pigmentosa	Keratoconus, Cataract	ORPHA:791
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto...	OMIM:259720
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Typ...	ORPHA:247815
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly...	OMIM:209950
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Ataxia, Abnormality of the uppe...	ORPHA:99885
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Scorpion Envenomation	Acute pancreatitis, Ketonuria, Hemifacial spasm, Ataxia, Tremor, Myocarditis, Hyperkinetic moveme...	ORPHA:466677
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom...	OMIM:120200
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microphthalmia, Hepati...	OMIM:618805
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Hypospadias, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Micro...	OMIM:615877
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri...	OMIM:618049
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly	OMIM:309545
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract, Retinal coloboma	OMIM:601794
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hyperammonemia	ORPHA:664
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia	ORPHA:411777
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Xq28 (MECP2) duplication	Death in childhood, Abnormal repetitive mannerisms, Brachycephaly, Dysphagia	DECIPHER:45
Glutathionuria	Eczema, Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor	OMIM:231950
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Anisocoria, R...	OMIM:613550
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
H Syndrome	Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Azoospermia, H...	ORPHA:168569
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, L...	OMIM:104200
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:212550
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int...	OMIM:617093
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Hyperbilirubinemia	OMIM:301094
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard...	ORPHA:79328
Potocki-Shaffer Syndrome	Parietal foramina, Turricephaly, Brachycephaly	OMIM:601224
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Retinal coloboma	ORPHA:363741
Short Syndrome	Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Insulin resistance, Abnormal pupil mor...	ORPHA:3163
Clark-Baraitser Syndrome	Hyperactivity, Brachycephaly, Dolichocephaly, Aggressive behavior	OMIM:617752
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia, Developmental cataract	ORPHA:1368
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Hypogonadism, Cardiomyopathy	OMIM:608540
Mevalonic Aciduria	Nuclear cataract, Cataract	OMIM:610377
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Depression, Thrombocytopenia	OMIM:231000
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi...	OMIM:616602
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal corticom...	OMIM:120330
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal...	ORPHA:505248
Cerebrooculofacioskeletal Syndrome 2	Cataract, Developmental cataract, Death in childhood, Microphthalmia, Micropenis	OMIM:610756
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Mmep Syndrome	Microphthalmia	ORPHA:3434
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Abnormal urina...	ORPHA:391417
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex...	ORPHA:507
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:95717
Babesiosis	Hepatomegaly, Hemolytic anemia, Anorexia, Splenomegaly, Jaundice, Depression, Leukopenia, Hepatic...	ORPHA:108
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Cataract, Brachycephaly, Microphthalmia, Anterior plagiocephaly	ORPHA:163649
Myasthenia Gravis	Myositis, Hepatitis, Rheumatoid arthritis, Glycosuria, Hashimoto thyroiditis	ORPHA:589
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla...	ORPHA:785
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Micropenis, Decreased te...	ORPHA:335
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Crouzon Syndrome	Frontal bossing, Sagittal craniosynostosis, Keratitis, Brachycephaly, Conjunctivitis, Lambdoidal ...	OMIM:123500
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis, Mydriasis	OMIM:619365
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Insulin resistance, Glucose in...	OMIM:617253
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Brachycephaly, Self-injurious behavior, Skin-picking, Abnorma...	OMIM:600430
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Cataract, Methylmalonic aciduria, Elevated urinary aminoi...	OMIM:614105
Warburg Micro Syndrome 3	Cataract, Brachycephaly, Developmental cataract, Microcornea, Shallow anterior chamber, Microphth...	OMIM:614222
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxi...	OMIM:617145
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Lenticonus, Corneal e...	OMIM:301050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Polycyst...	ORPHA:79259
Kniest Dysplasia	Cataract, Aplasia/Hypoplasia of the lens, Lens luxation	ORPHA:485
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa...	ORPHA:95699
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Brachycephaly, Self-injurious behavior, Polyphagia...	ORPHA:228402
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Irritability, Cirrhosis, Hepatic failure	OMIM:613489
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome...	ORPHA:905
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the...	ORPHA:314473
Congenital Rubella Syndrome	Cataract, Skin rash, Corneal opacity, Spastic diplegia, Aplasia/Hypoplasia of the iris, Type I di...	ORPHA:290
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice	ORPHA:95715
Chromosome 3Q13.31 Deletion Syndrome	Plagiocephaly, Brachycephaly, Attention deficit hyperactivity disorder, Dolichocephaly	OMIM:615433
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau...	ORPHA:186
Kury-Isidor Syndrome	Frontal bossing, Astigmatism, Brachycephaly, Attention deficit hyperactivity disorder	OMIM:619762
Warburg Micro Syndrome 2	Cataract, Brachycephaly, Developmental cataract, Microcornea, Microphthalmia	OMIM:614225
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Polycystic ovaries	ORPHA:488191
Leber Congenital Amaurosis 9	Keratoconus, Eye poking, Macular coloboma	OMIM:608553
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Frontal bossing, Hyperactivity, Aggressive behavior, Brachycephaly, Plagiocephaly, Compulsive beh...	OMIM:618430
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ...	ORPHA:251004
Aromatase Deficiency	Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto...	ORPHA:91
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Irritability, Hyperuricemia, Hyperalaninemia, Hepati...	ORPHA:348
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Warburg Micro Syndrome 4	Microcornea, Microphthalmia, Brachycephaly, Developmental cataract	OMIM:615663
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Chromosome 6Pter-P24 Deletion Syndrome	Frontal bossing, Brachycephaly, Axenfeld anomaly, Opacification of the corneal stroma, Peters ano...	OMIM:612582
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Frontal bossing, Developmental glaucoma	OMIM:206750
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness	ORPHA:90354
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Camptodactyly Syndrome, Guadalajara Type 1	Microcornea, Brachycephaly, Midface retrusion	ORPHA:1327
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis...	ORPHA:79312
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Developmental cataract, Plagiocephaly, Self-injurious behavior, Midface retrusion	ORPHA:261652
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Elevated circulating long chain fatty acid concentration, Hyperbil...	OMIM:614886
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Atten...	ORPHA:401777
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Weill-Marchesani Syndrome 1	Cataract, Ectopia lentis, Broad skull, Microspherophakia, Brachycephaly, Shallow anterior chamber	OMIM:277600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Smith-Magenis Syndrome	Hyperactivity, Self hugging, Brachycephaly, Head-banging, Midface retrusion, Onychotillomania, Ab...	OMIM:182290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Coloboma, Death in childhood, Microphthalmia	OMIM:613153
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Unilambdoid synostosis, Brachycephaly, Midface retrusion	OMIM:618577
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Optic nerve hypoplasia, Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synos...	OMIM:618736
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular...	OMIM:600649
Muenke Syndrome	Brachycephaly, Plagiocephaly, Attention deficit hyperactivity disorder, Coronal craniosynostosis,...	OMIM:602849
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Saccharopinuria	Citrullinuria, Tremor, Spastic diplegia, Cystinuria, Gait ataxia, Hyperlysinuria	ORPHA:3124
Spastic Paraplegia 9B, Autosomal Recessive	Cataract, Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobul...	OMIM:616586
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Plagiocephaly, Coloboma, Frontal bossing, Brachycephaly	OMIM:616789
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris c...	ORPHA:139471
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries	ORPHA:280356
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract	OMIM:251270
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Arthrogryposis, Distal, Type 5	Keratoconus, Keratoglobus, Astigmatism	OMIM:108145
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Hyperbiliverdinemia	Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis	OMIM:614156
Thyrocerebroretinal Syndrome	Slurred speech, Nephritis, Myoclonus, Ataxia	OMIM:274240
Potocki-Shaffer Syndrome	Parietal foramina, Brachycephaly	ORPHA:52022
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Astigmatism, Brachycephaly, Sclerocornea	ORPHA:2095
Familial Dysautonomia	Glomerulopathy, Renal insufficiency, Ataxia, Abnormality of the kidney, Corneal opacity, Abnormal...	ORPHA:1764
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Agitation, Hyperalani...	OMIM:619046
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Iatrogenic Botulism	Cerebral palsy, Urinary retention, Mydriasis, Diaphragmatic paralysis	ORPHA:254509
Microtriplication 11Q24.1	Keratoconus, Bruxism	ORPHA:289522
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Aniridia 3	Aniridia, Cataract	OMIM:617142
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Wound Botulism	Cerebral palsy, Urinary retention, Mydriasis, Diaphragmatic paralysis	ORPHA:178475
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, Hyperactivity, Aggressive behavior, Brachycephaly, Self-biting, Abnormal repetit...	ORPHA:3306
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Anorexia, Recurrent ...	ORPHA:3008
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Pellagra-Like Syndrome	Cataract	OMIM:260650
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Corneal arcus, Cataract, Brachycephaly	OMIM:219150
Retinitis Pigmentosa 86	Cortical cataract	OMIM:618613
Alport Syndrome	Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Pos...	ORPHA:63
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Zonular cataract	OMIM:222765
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Uri...	OMIM:616795
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Cataract, Brachycephaly	OMIM:618797
Pearson Syndrome	Renal insufficiency, Diabetes mellitus, Proteinuria, Ataxia, Cataract, Lacticaciduria, Renal cyst...	ORPHA:699
Distal Xq28 Microduplication Syndrome	Impulsivity, Aggressive behavior, Depression, Self-biting, Stereotypical body rocking, Attention ...	ORPHA:293939
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,...	ORPHA:2795
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney	OMIM:619318
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
8Q12 Microduplication Syndrome	Brachycephaly, Attention deficit hyperactivity disorder	ORPHA:228399
Classic Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Intellectual Developmental Disorder, Autosomal Dominant 26	Hyperactivity, Brachycephaly	OMIM:615834
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Polycythe...	ORPHA:116
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Coloboma, Microphthalmia, Micropenis	OMIM:610125
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Spasticity, Astigmatism, Cataract	OMIM:619694
Vulto-Van Silfhout-De Vries Syndrome	Frontal bossing, Brachycephaly, Aggressive behavior	OMIM:615828
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Brachycephaly, Abnormal shape of the occiput, Brachyturricephaly, Midface retrusion	OMIM:218350
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Heterochromia iridis	ORPHA:66633
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ...	OMIM:229600
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Craniosynostosis	OMIM:614416
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Spastic diplegia, Developmental cataract	OMIM:600118
Congenital Heart Defects And Ectodermal Dysplasia	Frontal bossing, Brachycephaly, Attention deficit hyperactivity disorder	OMIM:617364
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Plagiocephaly, Frontal bossing, Astigmatism, Brachycephaly	OMIM:617296
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Prominent occiput, Plagiocephaly, Brachycephaly, Dolichocephaly	OMIM:618672
Smith-Magenis Syndrome	Frontal bossing, Brachycephaly, Microcornea, Self-injurious behavior, Attention deficit hyperacti...	ORPHA:819
Duane Retraction Syndrome	Central heterochromia, Optic disc hypoplasia, Ectopic kidney, Abnormal pupil morphology, Blepharo...	ORPHA:233
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Tremor, Nephrotic syndrome, Hypertonia, Type I diabetes mellitus, Nephropathy	ORPHA:1192
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Remnants...	ORPHA:649
Myh9-Related Disease	Renal insufficiency, Proteinuria, Presenile cataracts, Nephropathy, Nephritis	ORPHA:182050
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepa...	ORPHA:2348
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly	OMIM:619064
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Osteopathia Striata-Cranial Sclerosis Syndrome	Frontal bossing, Flat occiput, Cataract, Brachycephaly, Facial hyperostosis, Thickened calvaria	ORPHA:2780
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Dysphagia	ORPHA:89844
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis, Irritability	OMIM:228000
German Syndrome	Midface retrusion, Brachycephaly, Dolichocephaly, Dysphagia	ORPHA:2077
Richieri-Costa/Guion-Almeida Syndrome	Brachycephaly, Iris coloboma	OMIM:268850
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Meacham Syndrome	Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Crossed fused renal ectopia,...	ORPHA:3097
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Lissencephaly 8	Appendicular spasticity, Microphthalmia, Cataract	OMIM:617255
Angelman Syndrome	Keratoconus, Hyperactivity, Flat occiput, Aggressive behavior, Tongue thrusting, Self-injurious b...	ORPHA:72
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular...	OMIM:201475
Phacoanaphylactic Uveitis	Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo...	ORPHA:209959
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:95716
Vitreoretinochoroidopathy	Microcornea, Pulverulent cataract, Developmental cataract	OMIM:193220
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, ...	OMIM:615145
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Foodborne Botulism	Cerebral palsy, Paralysis, Diaphragmatic paralysis, Urinary retention, Mydriasis	ORPHA:228371
Alagille Syndrome	Keratoconus, Corneal dystrophy, Renal hypoplasia/aplasia, Abnormal pupil morphology, Abnormality ...	ORPHA:52
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad...	ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Microcornea, Stillbir...	OMIM:243605
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia, Intrauterine gr...	OMIM:603194
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Brachycephaly, Aggressive behavior	OMIM:300958
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly	ORPHA:320385
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract	OMIM:601701
Intellectual Developmental Disorder, Autosomal Dominant 1	Frontal bossing, Aggressive behavior, Brachycephaly, Self-injurious behavior, Astigmatism, Inappr...	OMIM:156200
Craniosynostosis 2	Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep...	OMIM:604757
Stevenson-Carey Syndrome	Microphthalmia, Coloboma, Brachycephaly	OMIM:611961
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Broad skull, Microspherophakia, Brachyceph...	OMIM:608328
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi...	OMIM:606003
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Decreased HDL cholesterol concentra...	ORPHA:14
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly	OMIM:615031
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Cho...	OMIM:618877
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Acrofrontofacionasal Dysostosis	Brushfield spots, Brachycephaly, Midface retrusion	ORPHA:1784
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Brachycephaly, Macular hypoplasia, Dolichocephaly, Trigonocephaly	OMIM:613792
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Oculocerebrorenal Syndrome Of Lowe	Clonus, Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis,...	ORPHA:534
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Angelman Syndrome	Hyperactivity, Flat occiput, Blue irides, Brachycephaly, Paroxysmal bursts of laughter	OMIM:105830
Hartsfield Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:2117
Frontofacionasal Dysplasia	Cataract, Brachycephaly, Microcornea, Midface retrusion, Microphthalmia, Iris coloboma, Hypoplasi...	OMIM:229400
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma, Ascites	OMIM:253250
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly, Aggressive behavior	OMIM:616083
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Classic Mycosis Fungoides	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly, Dysphagia	ORPHA:70472
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly	OMIM:309541
2Q32Q33 Microdeletion Syndrome	Brachycephaly, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:251019
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab...	ORPHA:314478
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:85414
Pseudodiastrophic Dysplasia	Frontal bossing, Brachycephaly, Midface retrusion	OMIM:264180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:42
Bachmann-Bupp Syndrome	Attention deficit hyperactivity disorder, Hyperbilirubinemia, Aggressive behavior	OMIM:619075
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Sneddon Syndrome	Tremor, Nephropathy, Chorea, Hemiparesis	ORPHA:820
Nance-Horan Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:627
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hypertrophic cardiomyopathy, Hepatic s...	ORPHA:79083
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Cataract 48	Cataract	OMIM:618415
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovarie...	ORPHA:1770
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Hypospadias, Polycoria, Hypoplasia of the iris, Microcornea, Ectopia pupillae, An...	OMIM:180500
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Botulism	Cerebral palsy, Urinary retention, Mydriasis, Diaphragmatic paralysis	ORPHA:1267
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Splenome...	ORPHA:824
Serotonin Syndrome	Clonus, Tremor, Rigidity, Hypertonia, Myoclonus, Acute kidney injury, Mydriasis	ORPHA:43116
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Plagiocephaly, Brachycephaly	OMIM:618603
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Abnormality of the kidney, Enlarged polycystic ...	ORPHA:201
Oculodentodigital Dysplasia, Autosomal Recessive	Frontal bossing, Cataract, Brachycephaly, Microcornea, Persistent pupillary membrane, Microphthalmia	OMIM:257850
Chopra-Amiel-Gordon Syndrome	Brachycephaly, Attention deficit hyperactivity disorder, Midface retrusion	OMIM:619504
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Brachycephaly, Craniosynostosis	ORPHA:314575
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Ataxia, Corneal opacity, Cataract, Tremor, Incr...	ORPHA:812
Ataxia-Telangiectasia	Elevated hepatic transaminase, Abnormal testis morphology, Polycystic ovaries, Lymphopenia, Aplas...	ORPHA:100
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl...	OMIM:252500
Temtamy Syndrome	Lens luxation, Ectopia lentis, Hypertonia, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:218340
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism	ORPHA:397685
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova...	ORPHA:79240
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Trisomy 13	Anophthalmia, Cataract, Displacement of the urethral meatus, Abnormality of the ureter, Aplasia/H...	ORPHA:3378
Trisomy 9P	Abnormal pupil morphology, Brachycephaly	ORPHA:236
4H Leukodystrophy	Cataract, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of ...	ORPHA:289494
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl...	OMIM:185070
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Toxin-Mediated Infectious Botulism	Cerebral palsy, Mydriasis, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Donohue Syndrome	Precocious puberty, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cel...	OMIM:246200
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Craniofrontonasal Dysplasia	Plagiocephaly, Frontal bossing, Brachycephaly, Craniosynostosis	ORPHA:1520
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic astigmatism, Mi...	OMIM:152950
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Lens luxation, Ectopia lentis, Xanthin...	OMIM:252160
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Inhalational Botulism	Urinary retention, Mydriasis, Paralysis	ORPHA:254504
White-Sutton Syndrome	Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Brachycephaly, Self-injurious behavio...	OMIM:616364
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries...	ORPHA:528
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Conjunctival icterus, Chronic kidney disease, ...	ORPHA:447
Hallermann-Streiff Syndrome	Frontal bossing, Hyperactivity, Cataract, Optic disc coloboma, Scaphocephaly, Brachycephaly, Chor...	OMIM:234100
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abno...	OMIM:216360
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ascites, Hypocalcemia	OMIM:602361
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly	OMIM:619972
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Enuresis	ORPHA:289483
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly	ORPHA:352530
Griscelli Syndrome	Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,...	ORPHA:381
Contractural Arachnodactyly, Congenital	Frontal bossing, Ectopia lentis, Scaphocephaly, Brachycephaly, Dolichocephaly	OMIM:121050
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased corneal thickness	ORPHA:293967
Oculocerebrofacial Syndrome, Kaufman Type	Microcornea, Flat occiput, Brachycephaly	ORPHA:2707
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Frontal bossing, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion	OMIM:619721
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Frontal bossing, Brachycephaly, Microphthalmia, Coronal craniosynostosis, Calvarial skull defect	ORPHA:228390
Refsum Disease	Renal insufficiency, Cataract, Ataxia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Microphth...	ORPHA:773
Hypomandibular Faciocranial Dysostosis	Death in infancy, Craniosynostosis, Optic disc coloboma, Brachycephaly, Trigonocephaly, Midface r...	ORPHA:1790
Nabais Sa-De Vries Syndrome, Type 1	Self-injurious behavior, Brachycephaly, Optic nerve hypoplasia	OMIM:618828
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Craniosynostosis, Herrmann-Opitz Type	Turricephaly, Brachycephaly, Craniosynostosis	ORPHA:2145
Knobloch Syndrome 1	Duplicated collecting system, Ataxia, Band keratopathy, Phthisis bulbi, Chorioretinal atrophy, De...	OMIM:267750
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis...	ORPHA:1655
Meckel Syndrome, Type 5	Anencephaly, Microphthalmia, Occipital encephalocele, Bile duct proliferation	OMIM:611561
Ogden Syndrome	Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def...	OMIM:300855
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Death in infancy, Cataract, Peters anomaly, Buphthalmos, Persistent pupillary membrane, Microphth...	OMIM:613150
Fucosidosis	Corneal opacity, Brachycephaly	ORPHA:349
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ...	ORPHA:228308
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Brachycephaly, Self-injurious behavior, Astigmatism, Compulsi...	ORPHA:468678
Oculo-Palato-Cerebral Syndrome	Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia, Spasticity	ORPHA:2714
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia	OMIM:617306
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron...	OMIM:619991
Pontocerebellar Hypoplasia, Type 3	Brachycephaly	OMIM:608027
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ...	OMIM:228300
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Optic nerve hypoplasia, Clonus, Abnormal pyramidal sign, Abnormality iris morphology, C...	ORPHA:370959
Frontonasal Dysplasia 3	Microphthalmia, Brachycephaly	OMIM:613456
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Astigmatism, Chorioretinal coloboma, Peters anomaly, Vesicoureteral reflux, Micropht...	ORPHA:494344
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly	ORPHA:93950
Ritscher-Schinzel Syndrome 1	Prominent occiput, Coloboma, Brachycephaly	OMIM:220210
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Turricephaly, Brachycephaly, Craniosynostosis	ORPHA:171839
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated ...	ORPHA:829
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia, Intrauterine gr...	OMIM:611134
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Microphthalmia, Iris coloboma	ORPHA:77298
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Glomerulopathy, Splenomegaly, Me...	ORPHA:91138
Marshall Syndrome	Frontal bossing, Cataract, Ectopia lentis, Brachycephaly, Thickened calvaria	ORPHA:560
3-Methylglutaconic Aciduria, Type Viib	Cataract, Zonular cataract	OMIM:616271
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Polycystic ovaries	ORPHA:1643
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr...	ORPHA:398124
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Brachycephaly	ORPHA:93262
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Frontal bossing, Brachycephaly	OMIM:616801
Cornelia De Lange Syndrome 2	Brachycephaly	OMIM:300590
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Peritonitis, Schistocytosis, Elevated circulating cr...	ORPHA:90038
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Carpenter Syndrome 1	Sagittal craniosynostosis, Brachycephaly, Microcornea, Opacification of the corneal stroma, Lambd...	OMIM:201000
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ...	OMIM:175200
Intellectual Developmental Disorder, Autosomal Dominant 29	Frontal bossing, Hyperactivity, Aggressive behavior, Brachycephaly, Self-injurious behavior, Asti...	OMIM:616078
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Adnp Syndrome	Trigonocephaly, Oral-pharyngeal dysphagia, Aggressive behavior, Brachycephaly, Plagiocephaly, Ast...	ORPHA:404448
Seckel Syndrome 2	Microphthalmia, Hypospadias, Ectopic kidney	OMIM:606744
Cerebrooculofacioskeletal Syndrome 1	Cataract, Insulin resistance, Recurrent pneumonia, Death in childhood, Microphthalmia	OMIM:214150
Grant Syndrome	Frontal bossing, Brachycephaly	ORPHA:2097
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Ritscher-Schinzel Syndrome 4	Impulsivity, Aggressive behavior, Brachycephaly, Plagiocephaly, Dysphagia, Abnormal repetitive ma...	OMIM:619435
Frontonasal Dysplasia 1	Microphthalmia, Cataract, Coloboma	OMIM:136760
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Hy...	OMIM:618060
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Xeroderma Pigmentosum, Complementation Group D	Cataract, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Microph...	OMIM:278730
Cataract 24	Anterior polar cataract	OMIM:601202
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Oligohydramnios, Hepatomegaly	OMIM:619053
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Lig4 Syndrome	Astigmatism, Brachycephaly	OMIM:606593
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Brachycephaly, Midface retrusion	OMIM:615539
Distal Deletion 10P	Cryptorchidism, Hypoplasia of penis, Polycystic ovaries	ORPHA:1580
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Brachycephaly	OMIM:615419
Congenital Disorder Of Glycosylation, Type Iit	Astigmatism, Brachycephaly	OMIM:618885
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat...	ORPHA:168577
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Repetitive compulsive behavior, Brachycephaly, Bruxism, Dysphagia, Abnormal repetitive mannerisms...	OMIM:300260
Aminopterin Syndrome Sine Aminopterin	Frontal bossing, Brachycephaly	OMIM:600325
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Flat occiput, Brachycephaly	ORPHA:2511
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H...	OMIM:602782
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia, Brachycephaly	OMIM:156610
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:435651
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Histiocytoid Cardiomyopathy	Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Le...	OMIM:617713
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Elevated circulating aspartate aminotransferase co...	OMIM:614866
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Even-Plus Syndrome	Brachycephaly, Midface retrusion	OMIM:616854
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi...	ORPHA:77259
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Cataract, Renal hypoplasia/aplasia, Optic disc coloboma, Microcornea, C...	ORPHA:568
Superficial Siderosis	Ataxia, Functional abnormality of the bladder, Abnormal pyramidal sign, Slurred speech, Dysmetria...	ORPHA:247245
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Recombinant Chromosome 8 Syndrome	Brachycephaly, Midface retrusion	OMIM:179613
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral ...	OMIM:614576
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder	ORPHA:73272
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy...	OMIM:608594
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Renal cyst	OMIM:617100
Cornelia De Lange Syndrome 5	Brachycephaly	OMIM:300882
Cherubism	Marcus Gunn pupil	OMIM:118400
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Combined Oxidative Phosphorylation Deficiency 32	Death in infancy, Tremor, Horseshoe kidney, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Micro Syndrome	Hypoplasia of penis, Cataract, Abnormal localization of kidney, Microcornea, Retinal coloboma, Mi...	ORPHA:2510
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Adenylosuccinase Deficiency	Hyperactivity, Aggressive behavior, Brachycephaly, Inappropriate laughter, Self-mutilation	OMIM:103050
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Babinski sign, Polycoria, Developmental cataract, Hypoplasia of the ir...	OMIM:175780
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Buphthalmos, Brachycephaly, Rieger anomaly, Primary congenital glaucoma	ORPHA:521445
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Biliary cirrhosis, Choles...	OMIM:613610
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Proteinuria, Polycystic ovaries, Cardiomyopathy, Cirrhosis, Hep...	ORPHA:79086
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Ataxia, Spastic tetraple...	OMIM:251300
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti...	ORPHA:744
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract	ORPHA:1010
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin con...	ORPHA:100924
Nance-Horan Syndrome	Microcornea, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Lujan-Fryns Syndrome	Brachycephaly, Attention deficit hyperactivity disorder	ORPHA:776
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Cataract, Coloboma, Abnormally large globe	OMIM:615249
Proteus-Like Syndrome	Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis	ORPHA:2969
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Atypical Werner Syndrome	Renal neoplasm, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia,...	ORPHA:79474
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly	OMIM:614702
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Fetal Trimethadione Syndrome	Brachycephaly, Midface retrusion	ORPHA:1913
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Neonatal hyperbilirubinemia	OMIM:609727
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid...	ORPHA:42775
Distal Deletion 10Q	Frontal bossing, Craniosynostosis, Aggressive behavior, Brachycephaly, Astigmatism, Attention def...	ORPHA:96148
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Plagiocephaly, Brachycephaly	OMIM:618862
Martsolf Syndrome 1	Microphthalmia, Cataract, Brachycephaly, Developmental cataract	OMIM:212720
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor...	ORPHA:562
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cryptorchidism, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:3085
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Retinal coloboma, Iris coloboma	ORPHA:2328
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Torticollis, Pyelonephritis, Nephritis, Renal dysplasia	OMIM:314300
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Astigmatis...	OMIM:609053
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Hypertrophic cardiomyopathy, Micropenis, As...	OMIM:616897
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent...	OMIM:614527
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Attention deficit hyperactivity disorder, Brachycephaly, Compulsive behaviors	ORPHA:404440
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Multicystic kidney dysplasia, Cataract, Microcornea, Microphthalmia, Iris ...	ORPHA:3301
Joubert Syndrome 37	Oculomotor apraxia, Microphthalmia, Micropenis, Hydronephrosis	OMIM:619185
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Brachycephaly, Frontal bossing, Iris coloboma	ORPHA:1236
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Isolated Thyroid-Stimulating Hormone Deficiency	Depression, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice, Hypercholester...	ORPHA:90674
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries	ORPHA:435660
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Impulsivity, Aggressive behavior, Brachycephaly, Plagiocephaly, Attention deficit hyperactivity d...	ORPHA:500055
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Ataxia With Vitamin E Deficiency	Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy...	ORPHA:96
Wolfram Syndrome 1	Neurogenic bladder, Diabetes mellitus, Hydroureter, Ataxia, Cataract, Tremor, Hydronephrosis	OMIM:222300
Apert Syndrome	Frontal bossing, Cloverleaf skull, Corneal erosion, Acrobrachycephaly, Brachyturricephaly, Midfac...	ORPHA:87
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper...	ORPHA:2399
Refsum Disease, Classic	Cardiomyopathy, Abnormal renal physiology, Cardiomegaly	OMIM:266500
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sagittal craniosynostosis, Scaphocephaly, Brachycephaly, Attention deficit hyperactivity disorder...	ORPHA:459061
Neurofaciodigitorenal Syndrome	Plagiocephaly, Brachycephaly, Corneal dystrophy	ORPHA:2673
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Hypospadias, Supernumerary nipple,...	OMIM:312870
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Thromb...	ORPHA:540
Warburg-Cinotti Syndrome	Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Midface retrusion, Cornea...	OMIM:618175
Craniodigital-Intellectual Disability Syndrome	Brachycephaly	ORPHA:1514
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm...	OMIM:312080
Attrv122I Amyloidosis	Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res...	ORPHA:85451
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation	OMIM:618541
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Irritability, Decreased serum zinc, Emotional lability	OMIM:201100
Dystonia-Deafness Syndrome 1	Leg dystonia, Cataract, Oculogyric crisis, Generalized dystonia	OMIM:607371
Achard Syndrome	Broad skull, Brachycephaly	OMIM:100700
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Fumarase Deficiency	Intrahepatic cholestasis, Ascites, Hyperbilirubinemia, Hepatic failure, Polycythemia	OMIM:606812
Muenke Syndrome	Plagiocephaly, Coronal craniosynostosis, Brachycephaly	ORPHA:53271
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J...	OMIM:208500
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Hyperactivity	OMIM:252900
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Decreased circu...	OMIM:300972
Baraitser-Winter Syndrome 2	Microphthalmia, Coloboma	OMIM:614583
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Chorioretinal dysplasia, Microcorne...	ORPHA:899
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Williams-Beuren Region Duplication Syndrome	Brachycephaly, Attention deficit hyperactivity disorder	OMIM:609757
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia	ORPHA:85167
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ...	ORPHA:1772
Classic Phenylketonuria	Cataract, Eczema, Tremor, Paraplegia, Hypertonia, Hemiplegia	ORPHA:79254
Matthew-Wood Syndrome	Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Ann...	ORPHA:2470
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly	OMIM:620240
Acro-Renal-Ocular Syndrome	Renal malrotation, Cataract, Optic disc hypoplasia, Renal hypoplasia/aplasia, Optic disc coloboma...	ORPHA:959
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Glomerulopathy, Abnormal heart valve morphology, Proteinuria, ...	ORPHA:36412
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Miller Fisher Syndrome	Anisocoria, Ataxia, Tetraparesis, Mydriasis	ORPHA:98919
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E...	ORPHA:549
Schwannomatosis, Vestibular	Juvenile posterior subcapsular lenticular opacities, Cortical cataract	OMIM:101000
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Baraitser-Winter Syndrome 1	Microphthalmia, Micropenis, Iris coloboma, Chorioretinal coloboma	OMIM:243310
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Hyperphosphatasia-Intellectual Disability Syndrome	Plagiocephaly, Shallow anterior chamber, Abnormal parietal bone morphology, Brachycephaly	ORPHA:247262
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape	ORPHA:45358
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus	ORPHA:542306
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Biliary tract abnormality, Short stature	ORPHA:3191
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Brachycephaly, Lambdoidal craniosy...	OMIM:603116
Monosomy 18P	Microphthalmia, Brachycephaly	ORPHA:1598
Cerebrooculonasal Syndrome	Frontal bossing, Anophthalmia, Optic nerve hypoplasia, Proboscis, Craniosynostosis, Brachycephaly...	OMIM:605627
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Brachycephaly	OMIM:608776
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios	ORPHA:261272
Non-Functioning Paraganglioma	Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vocal cord paraly...	ORPHA:94080
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Appendicular spasticity, Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis media, Mic...	OMIM:618494
Down Syndrome	Cataract, Brachycephaly	ORPHA:870
9Q33.3Q34.11 Microdeletion Syndrome	Plagiocephaly, Astigmatism, Brachycephaly, Dysphagia	ORPHA:495818
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Gait ataxia, Ne...	OMIM:254900
Cerebrooculonasal Syndrome	Anophthalmia, Brachycephaly	ORPHA:66625
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Brachycephaly, Pterygium, Iris coloboma	ORPHA:371428
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Facial Spasm	Anisocoria	OMIM:134300
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Megalocornea, Cataract, Brachycephaly	OMIM:601353
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the liver, Ascites, Hyperbilirubinemia, Thrombocytopenia	ORPHA:464321
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Nephroblastoma	OMIM:602501
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ...	OMIM:617013
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Urinar...	OMIM:146500
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia, Coloboma	OMIM:167730
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behav...	OMIM:619475
Neuroocular Syndrome	Hypoplasia of the fovea, Midface retrusion, Cataract, Remnants of the hyaloid vascular system, Br...	OMIM:619539
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Hypospadias, Recurrent pneumonia, Microcornea, Microphthalmia, Spasticity, Hydronephrosis	OMIM:616449
Intestinal Botulism	Death in infancy, Mydriasis	ORPHA:178481
Kapur-Toriello Syndrome	Cataract, Abnormality of the urinary system, Retinal coloboma, Microphthalmia, Micropenis, Iris c...	OMIM:244300
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Bilateral microphthalmos, Brachyturricephaly, Optic nerve hypoplasia	OMIM:607597
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Cataract, Increased circulating IgA level, Developmental cataract	OMIM:616395
Cree Mental Retardation Syndrome	Coloboma, Brachycephaly	OMIM:606851
Kleefstra Syndrome 1	Aggressive behavior, Brachycephaly, Compulsive behaviors, Abnormal repetitive mannerisms, Midface...	OMIM:610253
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Pelvic kidney, Hydronephrosis	OMIM:613001
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	OMIM:300863
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Conjunctivitis	OMIM:242150
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Cirrhosis, Polycystic ovaries	OMIM:604367
Autosomal Dominant Spastic Paraplegia Type 9A	Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Developmental cataract, Uri...	ORPHA:447753
3P25.3 Microdeletion Syndrome	Microphthalmia, Abnormal repetitive mannerisms, Brachycephaly, Attention deficit hyperactivity di...	ORPHA:435638
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:268800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Cataract, Tremor, Fasciculations, Hydronephrosis, Limb hypertonia	OMIM:620327
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha...	OMIM:617914
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Short stature, Edema	ORPHA:2505
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Short stature	OMIM:300887
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert...	ORPHA:57777
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Eczema, Sclerocornea, Microphthalmia, Iris hypopi...	ORPHA:284160
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g...	OMIM:265300
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Menkes Disease	Brachycephaly, Death in childhood	OMIM:309400
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Momo Syndrome	Frontal bossing, Bilateral microphthalmos, Brachycephaly, Chorioretinal coloboma	ORPHA:2563
Sézary Syndrome	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo...	ORPHA:90793
Adams-Oliver Syndrome 2	Microphthalmia, Developmental cataract, Limb hypertonia	OMIM:614219
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly	OMIM:218000
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca...	ORPHA:29072
Momo Syndrome	Frontal bossing, Retinal coloboma, Brachycephaly	OMIM:157980
Wieacker-Wolff Syndrome, Female-Restricted	Brachycephaly, Dysphagia	OMIM:301041
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Cataract, Clonus, Tremor, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduri...	OMIM:617248
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Trichinellosis	Skin rash, Babinski sign, Hemiparesis, Anisocoria, Conjunctivitis, Abnormal uvea morphology, Hemi...	ORPHA:863
19P13.12 Microdeletion Syndrome	Self-injurious behavior, Hyperactivity, Brachycephaly, Craniosynostosis	ORPHA:254346
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Cataract, Hypospadias, Ataxia, Tremor, 3-Methylglutaconic aciduria, Death in childhood, Neonatal ...	OMIM:614052
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
X-Linked Intellectual Disability Due To Gria3 Mutations	Brachycephaly, Self-mutilation, Aggressive behavior	ORPHA:364028
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of...	ORPHA:391428
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Brachycephaly, Attention deficit hyperactivity disorder	OMIM:620073
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary	ORPHA:247768
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Astigmatism, Brachycephaly, Cataract	OMIM:300968
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Ataxia, Tremor, Nephrotic syndrome, Focal segmental glomeru...	OMIM:607426
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Craniosynostosis, Aggressive behavior, Polyphagia, Brachycephaly, S...	ORPHA:96121
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,...	ORPHA:93552
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated c...	OMIM:615895
Achondrogenesis, Type Ii	Frontal bossing, Stillbirth, Brachycephaly	OMIM:200610
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Erythroderma, Microphthalmia, Hydronephrosis, Neonatal hypoglycemia	ORPHA:35173
Congenital Disorder Of Deglycosylation 1	Restlessness, Corneal opacity, Oral-pharyngeal dysphagia, Brachycephaly, Impaired oropharyngeal s...	OMIM:615273
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios	ORPHA:2189
Tetanus	Elevated urinary norepinephrine level, Tremor, Rigidity, Elevated urinary epinephrine level, Opis...	ORPHA:3299
Bardet-Biedl Syndrome 1	Decreased testicular size, Abnormality of the kidney, Biliary tract abnormality, Hepatic fibrosis...	OMIM:209900
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia	OMIM:614833
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:90673
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Brachycephaly	OMIM:618142
Duane-Radial Ray Syndrome	Renal malrotation, Cataract, Optic disc hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe k...	OMIM:607323
Joubert Syndrome 2	Renal insufficiency, Ataxia, Optic disc coloboma, Renal cyst, Nephronophthisis, Chorioretinal col...	OMIM:608091
Acute Zonal Occult Outer Retinopathy	Marcus Gunn pupil	ORPHA:284454
Charcot-Marie-Tooth Disease Type 4C	Gait ataxia, Anisocoria, Tongue fasciculations, Head tremor, Facial paralysis, Vocal cord paresis...	ORPHA:99949
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia	OMIM:239200
Intellectual Developmental Disorder, Autosomal Dominant 66	Plagiocephaly, Brachycephaly	OMIM:619910
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Moebius Syndrome	Poor coordination, Clumsiness, Dysdiadochokinesis, Microphthalmia, Micropenis	OMIM:157900
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Mirage Syndrome	Hyponatremia, Hyperkalemia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Methylmalonic aciduria, Dysmetria	OMIM:615578
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1438
Heme Oxygenase 1 Deficiency	Hematuria, Chemosis, Nephritis, Proteinuria	OMIM:614034
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Gapo Syndrome	Keratoconus, Frontal bossing, Midface retrusion	ORPHA:2067
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Den Hoed-De Boer-Voisin Syndrome	Brachycephaly, Death in adolescence, Agitation, Dysphagia, Abnormal repetitive mannerisms, Midfac...	OMIM:619229
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Rigidity, Tremor, Urinary urgency, Bradykinesia, Dystonia	OMIM:168600
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Frontonasal Dysplasia 2	Craniosynostosis, Parietal foramina, Calvarial skull defect, Brachycephaly, Microphthalmia, Anter...	OMIM:613451
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Cholestasis, Bile duct prolifer...	OMIM:613658
Aymé-Gripp Syndrome	Cataract, Craniosynostosis, Brachycephaly, Developmental cataract, Plagiocephaly, Megalocornea	ORPHA:1272
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Rothmund-Thomson Syndrome, Type 2	Microcornea, Cataract, Zonular cataract	OMIM:268400
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Cataract, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Aniso...	OMIM:181270
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Multicentric Osteolysis, Nodulosis, And Arthropathy	Frontal bossing, Peripheral opacification of the cornea, Corneal opacity, Brachycephaly	OMIM:259600
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Babinski sign, Ataxia	OMIM:231550
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flat occiput, Brachycephaly	OMIM:617452
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aspiration pneumonia...	ORPHA:99027
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Sea-blue ...	OMIM:607625
Solitary Median Maxillary Central Incisor	Microphthalmia, Cyclopia, Anophthalmia, Coloboma	OMIM:147250
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Flat occiput, Brushfield spots, Dysphagia, Opacification of the corneal stroma, Death i...	OMIM:214100
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Thrombocytopenia, Giant platelets, El...	OMIM:210250
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Infant Botulism	Chronic otitis media, Keratoconjunctivitis sicca, Cerebral palsy, Mydriasis	ORPHA:178478
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Sclerocornea, Cataract, S...	OMIM:206900
Cooper-Jabs Syndrome	Frontal bossing, Brachycephaly	ORPHA:1488
Mogs-Cdg	Hepatomegaly, Atrial septal defect, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly...	ORPHA:79330
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenici...	OMIM:619351
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Isosexual precocious puberty, Premature thelarche, Precocious puberty, Renal salt wasting, Increa...	ORPHA:90795
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy, Brachycephaly	OMIM:201180
Bickerstaff Brainstem Encephalitis	Ataxia, Pneumonia, Babinski sign, Abnormal pyramidal sign, Tetraplegia, Anisocoria, Tetraparesis,...	ORPHA:79138
Larsen-Like Syndrome	Frontal bossing, Brachycephaly	OMIM:608545
Joubert Syndrome 14	Coloboma, Microphthalmia, Ataxia, Renal cyst	OMIM:614424
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Myoclonic-Astatic Epilepsy	Tremor, Microphthalmia, Abnormal pyramidal sign, Ataxia	ORPHA:1942
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Th...	ORPHA:158048
Cerebellar Ataxia-Hypogonadism Syndrome	Brachycephaly	ORPHA:1173
Phosphoribosylaminoimidazole Carboxylase Deficiency	Neonatal death, Brachycephaly	OMIM:619859
Alternating Hemiplegia Of Childhood	Ataxia, Mydriasis, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreo...	ORPHA:2131
Mosaic Variegated Aneuploidy Syndrome 1	Cataract, Brachycephaly, Midface retrusion	OMIM:257300
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Holoprosencephaly-Craniosynostosis Syndrome	Plagiocephaly, Brachycephaly, Craniosynostosis	ORPHA:2163
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas...	ORPHA:171
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chorea, Chronic kidney dise...	ORPHA:25
Gapo Syndrome	Keratoconus, Frontal bossing, Plagiocephaly, Shallow anterior chamber, Megalocornea	OMIM:230740
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Flat occiput, Brachycephaly	ORPHA:505237
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Involuntary movements, Tremor, Hematuria, Tubulointerstitial nep...	ORPHA:90068
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Brachycephaly, Craniosynostosis	ORPHA:83
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
Chromosome 13Q33-Q34 Deletion Syndrome	Hyperactivity, Aggressive behavior, Brachycephaly, Trigonocephaly, Microphthalmia	OMIM:619148
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	ORPHA:163966
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia...	OMIM:617591
Alpha-Mannosidosis, Infantile Form	Cataract, Corneal opacity, Craniosynostosis, Cranial hyperostosis, Brachycephaly, Astigmatism, Th...	ORPHA:309282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Death in infancy, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Pete...	OMIM:614643
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Hemidystonia, Tremor, Enuresis nocturna, Astigmatism, Recurrent otit...	OMIM:619680
Pde4D Haploinsufficiency Syndrome	Frontal bossing, Thickened calvaria, Brachycephaly	ORPHA:439822
Gillessen-Kaesbach-Nishimura Syndrome	Brachycephaly	OMIM:263210
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Chromosome 2P16.1-P15 Deletion Syndrome	Brachycephaly, Optic nerve hypoplasia, Attention deficit hyperactivity disorder	OMIM:612513
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Astigmatism, Retinal coloboma, Microphthalmia, Renal dysplasia	OMIM:618571
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:612387
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia	ORPHA:163979
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Polycystic ovaries	OMIM:268020
Aica-Ribosuria Due To Atic Deficiency	Frontal bossing, Brachycephaly	OMIM:608688
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con...	ORPHA:79277
Beck-Fahrner Syndrome	Brachycephaly, Attention deficit hyperactivity disorder	OMIM:618798
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ...	ORPHA:77293
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Dolichocephaly	ORPHA:2633
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Cor triatriatum, Intermittent thrombocytopenia,...	OMIM:612541
Acrodysostosis 1 With Or Without Hormone Resistance	Calvarial hyperostosis, Blue irides, Brachycephaly, Midface retrusion	OMIM:101800
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ...	ORPHA:2363
De Barsy Syndrome	Cataract, Corneal opacity, Brachycephaly	ORPHA:2962
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hepatic failure, ...	OMIM:608013
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, Intrahepatic bile duct dilatati...	OMIM:619534
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Joubert Syndrome With Renal Defect	Renal insufficiency, Ataxia, Tremor, Oculomotor apraxia, Nephropathy, Iris coloboma	ORPHA:220497
Microphthalmia-Brain Atrophy Syndrome	Spasticity, Bilateral microphthalmos	ORPHA:77299
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Frontal bossing, Craniosynostosis, Developmental glaucoma, Brachycephaly, Midface retrusion	OMIM:245600
Degcags Syndrome	Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Oral-pharyngeal dysphagia, Cholestasis...	OMIM:619488
Revesz Syndrome	Megalocornea, Hypertonia, Ataxia, Leukocoria	OMIM:268130
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac...	ORPHA:308552
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph...	OMIM:128100
19P13.13 Microdeletion Syndrome	Brachycephaly, Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Dolichocephaly	ORPHA:357001
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Coats Disease	Leukocoria	OMIM:300216
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein...	ORPHA:90797
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca...	ORPHA:276621
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis	OMIM:618653
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Midface re...	OMIM:207410
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Tremor, Myocarditis, Infectious encephalitis	ORPHA:83317
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Brachycephaly, Abnormal repetitive mannerisms, Self-mutilation, Stereotypica...	OMIM:212066
Adams-Oliver Syndrome	Encephalocele, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Microphthalmia, Ascites	ORPHA:974
Pfeiffer Syndrome Type 1	Brachycephaly, Bicoronal synostosis, Midface retrusion	ORPHA:93258
Osteogenesis Imperfecta, Type Xii	Brachyturricephaly, Midface retrusion	OMIM:613849
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Microphthalmia, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Cataract, Ataxia, Tremor, Type II diabetes mellitus	ORPHA:79095
Trichothiodystrophy 1, Photosensitive	Death in infancy, Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Decreased ci...	OMIM:601675
Kaufman Oculocerebrofacial Syndrome	Microcornea, Astigmatism, Brachycephaly	OMIM:244450
Sponastrime Dysplasia	Frontal bossing, Cataract, Microcoria, Midface retrusion, Congenital aphakia	ORPHA:93357
Cat Eye Syndrome	Renal agenesis, Horseshoe kidney, Chorioretinal coloboma, Vesicoureteral reflux, Microphthalmia, ...	OMIM:115470
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Yellow Fever	Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ...	ORPHA:99829
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
X-Linked Intellectual Disability, Wilson Type	Brachycephaly	ORPHA:85290
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:232300
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepatic steatosis, P...	ORPHA:280365
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly, Aggressive behavior	OMIM:619244
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg...	OMIM:619418
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract	OMIM:616538
Costello Syndrome	Keratoconus	ORPHA:3071
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology	ORPHA:90658
Alstrom Syndrome	Renal insufficiency, Chronic active hepatitis, Insulin-resistant diabetes mellitus, Recurrent pne...	OMIM:203800
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae, Brachycephaly, Attention deficit hyperactivity disorder	OMIM:618223
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Craniolenticulosutural Dysplasia	Punctate cataract, Posterior Y-sutural cataract	OMIM:607812
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Treacher-Collins Syndrome	Frontal bossing, Cataract, Brachycephaly, Midface retrusion, Microphthalmia, Iris coloboma	ORPHA:861
Al Kaissi Syndrome	Brachycephaly	OMIM:617694
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract	OMIM:201470
Frank-Ter Haar Syndrome	Flat occiput, Developmental glaucoma, Brachycephaly, Buphthalmos, Megalocornea	OMIM:249420
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Marfan Syndrome	Cataract, Ectopia lentis, Microspherophakia, Hypoplasia of the iris, Astigmatism, Dolichocephaly	OMIM:154700
Raine Syndrome	Death in infancy, Brachycephaly, Plagiocephaly, Neonatal death, Brachyturricephaly, Midface retru...	OMIM:259775
Ayme-Gripp Syndrome	Midface retrusion, Craniofacial asymmetry, Brachycephaly, Developmental cataract	OMIM:601088
Trichohepatoneurodevelopmental Syndrome	Plagiocephaly, Astigmatism, Brachycephaly, Midface retrusion	OMIM:618268
Mosaic Trisomy 9	Polyhydramnios, Spina bifida, Asplenia, Hydrops fetalis, Abnormal liver lobulation, Microphthalmi...	ORPHA:99776
Familial Exudative Vitreoretinopathy	Microphthalmia, Cataract	ORPHA:891
2P15P16.1 Microdeletion Syndrome	Brachycephaly, Optic nerve hypoplasia, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:261349
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Pigmented Nodular Adrenocortical Disease, Primary, 2	Ovarian cyst, Pancreatitis	OMIM:610475
Cockayne Syndrome	Urinary incontinence, Progressive gait ataxia, Hypertonia, Lentiglobus, Intention tremor, Ataxia,...	ORPHA:191
Acrodysostosis	Brachycephaly, Midface retrusion	ORPHA:950
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
49,Xxxxy Syndrome	Brachycephaly, Attention deficit hyperactivity disorder, Overfriendliness	ORPHA:96264
9P13 Microdeletion Syndrome	Brachycephaly, Attention deficit hyperactivity disorder, Bruxism	ORPHA:324313
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Brachycephaly, Biparietal narrowing	ORPHA:1292
Hallermann-Streiff Syndrome	Microphthalmia, Frontal bossing, Brachycephaly, Developmental cataract	ORPHA:2108
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Arachnoid Cyst	Urinary incontinence, Paraparesis, Slurred speech, Hemiparesis, Tetraparesis, Urinary bladder sph...	ORPHA:2356
Kleefstra Syndrome	Aggressive behavior, Brachycephaly, Self-injurious behavior, Abnormal repetitive mannerisms, Self...	ORPHA:261494
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Spasticity, Ataxia	OMIM:615510
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Frontal bossing, Hyperactivity, Brachycephaly, Plagiocephaly, Self-injurious behavior, Compulsive...	OMIM:619512
3Q29 Microdeletion Syndrome	Microphthalmia, Cataract, Hypospadias, Horseshoe kidney	ORPHA:65286
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Cataract, Microphthalmia, Iris coloboma	ORPHA:2250
Hypoplasminogenemia	Nephrolithiasis, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
1Q21.1 Microdeletion Syndrome	Cataract, Hydronephrosis, Vesicoureteral reflux, Microphthalmia, Iris coloboma	ORPHA:250989
Osteogenesis Imperfecta, Type Xx	Plagiocephaly, Brachycephaly, Midface retrusion	OMIM:618644
Scheie Syndrome	Splenomegaly, Hepatomegaly	ORPHA:93474
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephri...	ORPHA:91500
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Fanconi Anemia, Complementation Group R	Microphthalmia, Pelvic kidney	OMIM:617244
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism, Myoclonus	ORPHA:1352
Acrofrontofacionasal Dysostosis 2	Brachycephaly	OMIM:239710
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Corneal opacity, Renal hypoplasia/aplasia, Ectopia lentis, Horsesho...	ORPHA:2092
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag...	OMIM:249100
Cornelia De Lange Syndrome 1	Optic disc coloboma, Brachycephaly, Microcornea, Self-injurious behavior, Astigmatism	OMIM:122470
Trichohepatoenteric Syndrome 1	Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Abnormality...	OMIM:222470
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Brachycephaly, Lambdoidal craniosynostosis	OMIM:615398
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Ritscher-Schinzel Syndrome 3	Microphthalmia, Chorioretinal coloboma, Death in infancy	OMIM:619135
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Hepatic fibrosis, Polycys...	OMIM:311200
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
48,Xxxy Syndrome	Brachycephaly, Attention deficit hyperactivity disorder	ORPHA:96263
Cockayne Syndrome Type 3	Renal insufficiency, Neurogenic bladder, Hydroureter, Cataract, Unilateral renal agenesis, Renal ...	ORPHA:90324
Apert Syndrome	Sagittal craniosynostosis, Craniosynostosis, Brachycephaly, Acrobrachycephaly, Lambdoidal cranios...	OMIM:101200
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia, Polyhydramnios	OMIM:616920
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Abnormal iris pigmentation, Thickene...	ORPHA:2614
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Brachycephaly	ORPHA:562528
Trisomy 20P	Plagiocephaly, Frontal bossing, Brachycephaly, Dolichocephaly	ORPHA:261318
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Ectopic kidney	ORPHA:268249
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Recurrent pneumonia, Developmental cataract, Microcornea, Male urethral meatus steno...	ORPHA:464738
Kleefstra Syndrome Due To 9Q34 Microdeletion	Flat occiput, Brachycephaly, Midface retrusion	ORPHA:96147
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Microcornea, Hydronephrosis, Retinal coloboma, Iris coloboma	ORPHA:2839
Meckel Syndrome 14	Occipital encephalocele, Increased nuchal translucency, Hepatic fibrosis, Microphthalmia, Oligohy...	OMIM:619879
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:612852
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia, Leukocoria	ORPHA:1556
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Aceruloplasminemia	Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Ch...	ORPHA:48818
Trisomy 18	Cataract, Cyclopia, Abnormality of the upper urinary tract, Microcornea, Hypertonia, Microphthalm...	ORPHA:3380
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Astigmatism, Brachycephaly, Craniosynostosis	ORPHA:369837
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadeno...	ORPHA:342
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism	OMIM:613546
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Lig4 Syndrome	Brachycephaly, Biparietal narrowing	ORPHA:99812
X-Linked Intellectual Disability, Armfield Type	Cataract, Brachycephaly, Midface retrusion	ORPHA:85276
Fetal Alcohol Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1915
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Unilateral renal agenesis, Cataract, Optic...	ORPHA:141099
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
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Ventricular septal defect, Parathyroid agenesis, Unilateral...	OMIM:188400
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Cataract, Hydronephrosis, Erythroderma	OMIM:302960
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Oculodentodigital Dysplasia	Neurogenic bladder, Cataract, Ataxia, Paraparesis, Uveitis, Microcornea, Tetraparesis, Microphtha...	OMIM:164200
Marden-Walker Syndrome	Microphthalmia, Micropenis, Hypospadias, Renal hypoplasia	OMIM:248700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Frontal bossing, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling, Scaphoce...	OMIM:620330
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Micropenis, Cataract, Sclerocornea	OMIM:614230
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Sclerocornea, Chordee, Peters anomaly, Microphthalmia, Micropenis, Iris co...	OMIM:309801
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Ataxia, Tremor, Developmental cataract, Hypoplasia of the iris,...	OMIM:133540
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Hypoglycemia, Diabetes mellitus, Proteinuria, Cyclopia, Chorea...	ORPHA:2162
Cowden Syndrome 1	Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Lymphopenia, Varicocele, Goiter	OMIM:158350
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis	OMIM:217090
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Saethre-Chotzen Syndrome	Parietal foramina, Oxycephaly, Brachycephaly, Buphthalmos, Plagiocephaly, Skull asymmetry, Lambdo...	OMIM:101400
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly	OMIM:619995
Acromelic Frontonasal Dysostosis	Parietal foramina, Brachycephaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Frontorhiny	Microphthalmia, Cataract, Iris coloboma	ORPHA:391474
Hamamy Syndrome	Brachycephaly, Neck pterygia, Craniosynostosis	OMIM:611174
Chime Syndrome	Corneal opacity, Brachycephaly, Retinal coloboma	ORPHA:3474
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Corneal opacity, Vesicoureteral reflux, Microphthalmia...	ORPHA:2059
X-Linked Intellectual Disability, Nascimento Type	Aggressive behavior, Neonatal hyperbilirubinemia, Compulsive behaviors, Neutropenia	ORPHA:163956
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Tremor, Methylmalo...	OMIM:277400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Hypospadias, Unilateral microphthalmos	OMIM:618874
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Fanconi Anemia, Complementation Group S	Microphthalmia, Short stature	OMIM:617883
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Skull asymmetry, Brachycephaly	OMIM:614701
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Bangstad Syndrome	Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries	ORPHA:1227
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Arterial Tortuosity Syndrome	Keratoconus, Keratoglobus, Craniosynostosis	ORPHA:3342
Listeriosis	Pericarditis, Osteomyelitis, Miscarriage, Pneumonia, Ataxia, Pustule, Myocarditis, Peritonitis, T...	ORPHA:533
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulat...	OMIM:615688
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht...	OMIM:153400
Dysostosis, Stanescu Type	Brachycephaly, Midface retrusion	ORPHA:1798
Craniofrontonasal Syndrome	Frontal bossing, Brachycephaly, Axillary pterygium, Coronal craniosynostosis	OMIM:304110
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena...	OMIM:146510
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the urinary system physiology, Ne...	ORPHA:2552
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation	ORPHA:3412
Acute Intermittent Porphyria	Dark urine, Renal insufficiency, Dysuria, Urinary incontinence, Tremor, Porphyrinuria, Increased ...	ORPHA:79276
Roberts Syndrome	Microphthalmia, Cataract, Brachycephaly, Craniosynostosis	ORPHA:3103
Sweeney-Cox Syndrome	Flat occiput, Brachycephaly, Midface retrusion	OMIM:617746
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Buphthalmos, Coloboma, Peters anomaly, Microph...	OMIM:236670
20Q11.2 Microduplication Syndrome	Trigonocephaly, Brachycephaly	ORPHA:363659
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Cataract, Abnormal chorioretina...	ORPHA:564
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Opacification of the corneal stroma, Microphthalmia, Micropenis...	ORPHA:1692
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Ne...	OMIM:601186
Jacobsen Syndrome	Hypospadias, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Spasticity,...	OMIM:147791
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract, Ataxia	OMIM:610651
Arterial Tortuosity Syndrome	Keratoconus, Astigmatism	OMIM:208050
Microphthalmia, Syndromic 6	Anophthalmia, Sclerocornea, Brachycephaly, Microcornea, Coloboma, Plagiocephaly, Lambdoidal crani...	OMIM:607932
Fanconi Anemia, Complementation Group F	Pneumonia, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney	OMIM:603467
Pseudotrisomy 13 Syndrome	Renal agenesis, Cyclopia, Renal hypoplasia, Microphthalmia, Micropenis	OMIM:264480
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Tremor, Microscopic hematuria, Abnormal renal physiology	OMIM:274150
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Frontal bossing, Brachycephaly, Decreased calvarial ossification, Neonatal death, Microphthalmia	OMIM:617925
Chromosome 17P13.1 Deletion Syndrome	Plagiocephaly, Turricephaly, Brachycephaly	OMIM:613776
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Frontal bossing, Turricephaly, Cataract, Sutural cataract, Nuclear pulverulent cataract, Brachyce...	OMIM:612474
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ...	OMIM:309000
Craniosynostosis And Dental Anomalies	Frontal bossing, Turricephaly, Flat occiput, Sagittal craniosynostosis, Scaphocephaly, Oxycephaly...	OMIM:614188
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation	OMIM:206920
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Cataract, Corneal opacity, Brachycephaly	OMIM:274000
Microcephaly-Micromelia Syndrome	Microphthalmia, Intrauterine growth retardation, Oligohydramnios	OMIM:251230
Cleidocranial Dysplasia	Frontal bossing, Brachycephaly, Midface retrusion	ORPHA:1452
Renpenning Syndrome 1	Cataract, Brachycephaly, Coloboma, Death in childhood, Microphthalmia	OMIM:309500
1P36 Deletion Syndrome	Frontal bossing, Cataract, Ocular albinism, Polyphagia, Brachycephaly, Self-injurious behavior, D...	ORPHA:1606
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Abnormal pupil morphology, Microcornea, Vesicoureteral reflux, Webbed penis...	ORPHA:261552
Incontinentia Pigmenti	Cataract, Skin rash, Corneal opacity, Abnormal chorioretinal morphology, Keratitis, Hemiplegia/he...	ORPHA:464
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Parietal foramina, Brachycephaly, Plagiocephaly, Coronal craniosynostosis	ORPHA:85199
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Polycystic ovaries, Hepatic steatosis	OMIM:151660
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Steinfeld Syndrome	Microphthalmia, Unilateral renal dysplasia, Retinal coloboma, Iris coloboma	OMIM:184705
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Heparan sulfate excretion in urine, Recurr...	ORPHA:581
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Brachycephaly	OMIM:617798
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Hyperinsulinemia, Dysmetria, Developmental cataract, Mic...	OMIM:620185
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Diabetes mellitus, Ataxia, Tremor, Slurred speech, Bronch...	OMIM:208900
Estrogen Resistance	Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries	OMIM:615363
Baller-Gerold Syndrome	Turricephaly, Optic nerve hypoplasia, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Br...	OMIM:218600
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Cardiomegaly	OMIM:618143
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Brachycephaly	OMIM:614800
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Plagiocephaly, Frontal bossing, Brachycephaly	OMIM:610759
Cerebrofaciothoracic Dysplasia	Brachycephaly, Midface retrusion	ORPHA:1394
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Cortical cataract	ORPHA:637
Cowden Syndrome 6	Hydrocele testis, Ovarian cyst, Varicocele, Goiter	OMIM:615109
Baller-Gerold Syndrome	Frontal bossing, Brachyturricephaly, Brachycephaly	ORPHA:1225
Saethre-Chotzen Syndrome	Plagiocephaly, Brachycephaly, Craniosynostosis	ORPHA:794
Osteogenesis Imperfecta, Type Xi	Brachycephaly	OMIM:610968
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Glomerulonephritis, Hypersplenism, Thrombocytopenia, L...	ORPHA:1304
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Frontal bossing, Brachycephaly, Plagiocephaly, Retinal coloboma, Chorioretinal coloboma, Violent ...	OMIM:280000
Mowat-Wilson Syndrome	Cataract, Hypospadias, Abnormality of the kidney, Microcornea, Ectopia pupillae, Chorioretinal co...	OMIM:235730
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Ectopic kidney, Abnormal renal morphology, Horsesho...	OMIM:227650
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, P...	OMIM:606002
Congenital Factor Vii Deficiency	Ovarian cyst	ORPHA:327
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Elsahy-Waters Syndrome	Megalocornea, Cataract, Brachycephaly, Midface retrusion	OMIM:211380
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydroneph...	OMIM:617913
Cowden Syndrome 5	Hydrocele testis, Ovarian cyst, Goiter	OMIM:615108
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst	ORPHA:454840
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia	OMIM:600901
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia, Aplasia of the thymus, Right ventricular hypertrophy, Prolonged ...	OMIM:620186
Pfeiffer Syndrome	Coronal craniosynostosis, Cloverleaf skull, Brachyturricephaly	OMIM:101600
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin conce...	OMIM:222700
Short Syndrome	Ovarian cyst	OMIM:269880
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Va...	OMIM:617088
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Incontinentia Pigmenti	Hypoplasia of the fovea, Cataract, Maculopapular exanthema, Keratitis, Uveitis, Microphthalmia, S...	OMIM:308300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Coloboma...	ORPHA:508498
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Exaggerated startle response, Cataract	OMIM:253800
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Cataract, Abnormality of the kidney, Py...	ORPHA:2036
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Stillbirth, Renal hypoplasia, Renal cyst	OMIM:616300
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Polycystic ovaries	ORPHA:2176
Witteveen-Kolk Syndrome	Cataract, Hypospadias, Eczema, Poor motor coordination, Phimosis, Anisocoria, Male urethral meatu...	OMIM:613406
Dubowitz Syndrome	Hypospadias, Eczema, Hypoplasia of the iris, Otitis media, Microphthalmia, Megalocornea, Iris col...	OMIM:223370
Phace Association	Microphthalmia, Optic nerve hypoplasia, Developmental cataract	OMIM:606519
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Acromelic Frontonasal Dysplasia	Brachycephaly	ORPHA:1827
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly	OMIM:156400
Loeys-Dietz Syndrome 5	Brachycephaly, Dolichocephaly, Midface retrusion	OMIM:615582
Carney Complex	Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Euthyroid multinodular goi...	ORPHA:1359
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop...	ORPHA:565612
Johanson-Blizzard Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:243800
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Bilateral microphthalmos, Abnormal pyramidal sign, G...	ORPHA:33364
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-...	ORPHA:50918
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Chromosome 1P36 Deletion Syndrome, Distal	Frontal bossing, Midface retrusion, Cataract, Aggressive behavior, Optic disc coloboma, Brachycep...	OMIM:607872
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Compulsive behaviors, Hepatomegaly, Self-muti...	ORPHA:2388
Bohring-Opitz Syndrome	Nephroblastoma, Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Cholelithias...	ORPHA:97297
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Corneal opacity, Brachycephaly, Abnormal temper tantrums	ORPHA:2072
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microcornea, Brachycephaly, Abnormal anterior chamber morphology, Astigmatism	OMIM:601776
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Brachycephaly	ORPHA:456312
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Spastic tetraparesis, Renal cyst, Coloboma, Peters anomaly, Vesicoureteral reflux, M...	OMIM:616975
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Craniosynostosis, Brachycephaly, Self-mutilation, Attention deficit hyperactivity disorder	OMIM:213980
Peters Plus Syndrome	Frontal bossing, Cataract, Corneal opacity, Brachycephaly, Microcornea, Peters anomaly, Iris colo...	ORPHA:709
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic ki...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic ki...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic ki...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic ki...	ORPHA:881
Bosma Arhinia Microphthalmia Syndrome	Cataract, Hypospadias, Coloboma, Microphthalmia, Micropenis	OMIM:603457
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Optic disc coloboma, Astigmatism, Frontal bossing, Brachycephaly	OMIM:617157
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Thickened calvaria, Brachycephaly	OMIM:309583
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Stillbirth, Opacification of the c...	OMIM:229850
Cousin Syndrome	Microcornea, Microphthalmia, Hydronephrosis	OMIM:260660
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,...	ORPHA:904
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute...	ORPHA:29073
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea	OMIM:300952
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Short stature	OMIM:612530
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent...	OMIM:263700
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenome...	ORPHA:51
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Macronodular cirrhosis, Sev...	OMIM:620005
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Impulsivity, Brachycephaly, Agitation, Attention deficit hyperactivity disorder, Bruxism, Self-mu...	OMIM:619950
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Cataract, Chorioretinal dysplasia, Rigidity, Panniculitis, Hypertonia, Microphthalm...	ORPHA:2526
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Microcornea, Keratoconus	OMIM:225400
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Abno...	OMIM:234200
Retinoblastoma	Hypopyon, Heterochromia iridis, Leukocoria, Uveitis	ORPHA:790
Knobloch Syndrome 2	Anterior cortical cataract	OMIM:618458
Cohen Syndrome	Microphthalmia, Chorioretinal dystrophy, Iris coloboma	ORPHA:193
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe k...	ORPHA:2538
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia	OMIM:227645
Pituitary Apoplexy	Hypoglycemia, Mydriasis	ORPHA:95613
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus...	ORPHA:2729
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:210710
Cartilage-Hair Hypoplasia	Brachycephaly	OMIM:250250
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Intrauterine growth retardation, Oligohydramnios	ORPHA:364577
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormal localization of kidney, Micr...	ORPHA:2166
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Cyclopia, Iris coloboma	ORPHA:3186
Duplication Of The Pituitary Gland	Brachyturricephaly, Self-mutilation, Midface retrusion	ORPHA:314621
Distal Deletion 12Q	Frontal bossing, Hyperactivity, Brachycephaly, Obsessive-compulsive trait, Self-mutilation	ORPHA:96149
Fontaine Progeroid Syndrome	Death in infancy, Turricephaly, Craniosynostosis, Brachycephaly, Neonatal death, Microphthalmia, ...	OMIM:612289
Teebi-Shaltout Syndrome	Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Cataract, Corneal opacity, Microphthalmia, Nephroblastoma	ORPHA:1052
2Q31.1 Microdeletion Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma, Coloboma	ORPHA:251014
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, Sp...	OMIM:249000
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Coloboma, Hypoplasia of the retina, Myoclonus, Opacification of the cornea...	OMIM:253280
Cartilage-Hair Hypoplasia	Aplasia/Hypoplasia affecting the eye, Brachycephaly	ORPHA:175
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Repetitive compulsive behavior, Self-biting, Brachyturricephaly, Abnormal repetitive mannerisms, ...	ORPHA:522077
Monosomy 9P	Trigonocephaly, Microphthalmia, Calvarial skull defect, Brachycephaly	ORPHA:261112
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia, M...	OMIM:227646
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Doors Syndrome	Frontal bossing, Cataract, Sagittal craniosynostosis, Brachycephaly, Prominent occiput, Anterior ...	ORPHA:79500
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Eczema, Bilateral microphthalmos,...	ORPHA:468631
Aspartylglucosaminuria	Cataract, Thickened calvaria, Brachycephaly	OMIM:208400
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Cataract, Rena...	ORPHA:84
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Craniosynostosis, Brachycephaly, Coloboma, Stillbirth, Opacification o...	OMIM:268300
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Osteogenesis Imperfecta	Prominent occiput, Corneal opacity, Brachycephaly, Dysphagia	ORPHA:666
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Brachycephaly	ORPHA:264200
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Rieger anomaly, Hypospadias, Iris coloboma	OMIM:194190
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Cataract, Recurrent pneumonia, Pyelonephritis, Urethral diver...	ORPHA:90349
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac...	ORPHA:365
Coffin-Siris Syndrome 1	Frontal bossing, Aggressive behavior, Brachycephaly, Plagiocephaly, Astigmatism, Compulsive behav...	OMIM:135900
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Plagiocephaly, Brachycephaly	OMIM:301072
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Frontal bossing, Brachycephaly	OMIM:616728
Zygomycosis	Renal insufficiency, Sinusitis, Diabetes mellitus, Fasciitis, Pericarditis, Gastritis, Pustule, M...	ORPHA:73263
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Craniosynostosis, Brachycephaly, Trigonocephaly, Abnormal repetitive mannerisms	OMIM:309590
Tetraamelia Syndrome 1	Microphthalmia, Cataract, Renal agenesis, Urethral atresia	OMIM:273395
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Bartsocas-Papas Syndrome 1	Ectopic kidney, Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Microphthalm...	OMIM:263650
Primrose Syndrome	Restlessness, Aggressive behavior, Brachycephaly, Self-injurious behavior, Tics, Attention defici...	OMIM:259050
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Flat occiput, Brachycephaly	ORPHA:2211
Down Syndrome	Brushfield spots, Brachycephaly	OMIM:190685
Cornelia De Lange Syndrome	Cataract, Brachycephaly, Microcornea, Compulsive behaviors, Attention deficit hyperactivity disorder	ORPHA:199
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Wiedemann-Rautenstrauch Syndrome	Frontal bossing, Cataract, Brachycephaly, Dysphagia, Parietal bossing	OMIM:264090
Kbg Syndrome	Brachycephaly, Attention deficit hyperactivity disorder	OMIM:148050
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly	ORPHA:2062
Monosomy 9Q22.3	Microphthalmia, Nephroblastoma, Cataract	ORPHA:77301
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Shprintzen-Goldberg Craniosynostosis Syndrome	Frontal bossing, Brachyturricephaly, Craniosynostosis, Dolichocephaly	OMIM:182212
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:615530
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Developmental cataract	OMIM:127000
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Micropenis, Iris coloboma, Chorioretinal coloboma	OMIM:613884
Aicardi Syndrome	Hemiplegia/hemiparesis, Optic disc coloboma, Hypertonia, Chorioretinal coloboma, Microphthalmia, ...	ORPHA:50
Noonan Syndrome With Multiple Lentigines	Brachycephaly	ORPHA:500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Brachycephaly, Midface retrusion	OMIM:616263
Distal Deletion 3P	Brachycephaly	ORPHA:1620
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Fibrous Dysplasia Of Bone	Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra...	ORPHA:249
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral...	ORPHA:391641
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Slurred speech, Enterocolitis, Endocardi...	ORPHA:707
Pfeiffer Syndrome Type 3	Brachyturricephaly, Midface retrusion	ORPHA:93260
Monosomy 13Q14	Microphthalmia, Cataract, Iris coloboma	ORPHA:1587
Fanconi Anemia, Complementation Group L	Microphthalmia, Micropenis, Renal hypoplasia, Unilateral renal agenesis	OMIM:614083
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Maturity-onset diabetes of the young, Tremor, Hy...	ORPHA:1578
Microphthalmia, Syndromic 2	Anophthalmia, Hypospadias, Remnants of the hyaloid vascular system, Phthisis bulbi, Developmental...	OMIM:300166
22Q11.2 Deletion Syndrome	Cataract, Hypospadias, Acne, Seborrheic dermatitis, Corneal neovascularization, Renal hypoplasia,...	ORPHA:567
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenome...	OMIM:256040
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Torticollis, Hypospadias, Antecubital pterygium, Horseshoe kidney, Popliteal pterygium, Microphth...	OMIM:609945
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly	OMIM:608980
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Corneal opacity, Sclerocornea, Chorioretina...	ORPHA:2556
Congenital Myopathy 13	Brachycephaly, Midface retrusion	OMIM:255995
Ohdo Syndrome, X-Linked	Microphthalmia, Micropenis	OMIM:300895
Neu-Laxova Syndrome 1	Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm...	OMIM:256520
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ...	ORPHA:3472
Igg4-Related Pachymeningitis	Sinusitis, Lymphadenitis, Paraparesis, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Autosomal Recessive Faciodigitogenital Syndrome	Frontal bossing, Brachycephaly	ORPHA:1974
Turnpenny-Fry Syndrome	Plagiocephaly, Frontal bossing, Brachycephaly, Attention deficit hyperactivity disorder	OMIM:618371
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica...	ORPHA:51608
Hunter-Macdonald Syndrome	Brachycephaly, Midface retrusion	OMIM:611962
Aicardi Syndrome	Cataract, Chorioretinal lacunae, Recurrent pneumonia, Optic disc coloboma, Microphthalmia	OMIM:304050
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
X-Linked Intellectual Disability, Snyder Type	Brachycephaly	ORPHA:3063
Osteopetrosis With Renal Tubular Acidosis	Plagiocephaly, Thickened calvaria, Brachycephaly	ORPHA:2785
Charge Syndrome	Anophthalmia, Horseshoe kidney, Chorioretinal coloboma, Vesicoureteral reflux, Microphthalmia, Mi...	ORPHA:138
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia, Hypospadias, Ureterocele	OMIM:616734
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia	OMIM:620305
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali...	ORPHA:64
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Horseshoe kidney, Death in infancy	ORPHA:1106
Mandibuloacral Dysplasia Progeroid Syndrome	Frontal bossing, Brachycephaly, Death in childhood	OMIM:619127
Multisystemic Smooth Muscle Dysfunction Syndrome	Mydriasis	OMIM:613834
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Astigmatism, Brachycephaly, Cataract	ORPHA:480880
Carpenter Syndrome 2	Frontal bossing, Craniosynostosis, Oxycephaly, Brachycephaly, Trigonocephaly, Midface retrusion	OMIM:614976
Vascular Ehlers-Danlos Syndrome	Keratoconus, Hypospadias, Osteoarthritis, Cystocele, Abnormal pupil morphology, Renovascular hype...	ORPHA:286
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Ectopia lentis, Horseshoe kidney, Chorioretinal coloboma, Ani...	OMIM:305600
Mend Syndrome	Microphthalmia, Cataract, Limb hypertonia	ORPHA:401973
Branchioskeletogenital Syndrome	Thickened calvaria, Brachycephaly, Craniosynostosis	ORPHA:1299
Craniotubular Dysplasia, Ikegawa Type	Phthisis bulbi, Mydriasis	OMIM:619727
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly	OMIM:263520
Retinoblastoma	Leukocoria	OMIM:180200
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Holoprosencephaly 1	Microphthalmia, Micropenis, Hypoglycemia, Cyclopia	OMIM:236100
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly	OMIM:227330
Microphthalmia, Syndromic 1	Anophthalmia, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Optic disc coloboma, Renal hypo...	OMIM:309800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal death, Brachycephaly	OMIM:265380
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Frontal bossing, Impulsivity, Bruxism, Dysphagia, Brachycephaly, Stereotypical body rocking, Doli...	OMIM:619503
Charge Syndrome	Anophthalmia, Renal agenesis, Cataract, Unilateral microphthalmos, Horseshoe kidney, Renal hypopl...	OMIM:214800
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract	ORPHA:306542
Myhre Syndrome	Short stature, Pericardial effusion, Birth length less than 3rd percentile, Microphthalmia, Intra...	OMIM:139210
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation, Oligohydramnios	OMIM:608670
Hydrolethalus Syndrome 1	Accessory spleen, Polyhydramnios, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:236680
Fraser Syndrome	Death in infancy, Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, R...	ORPHA:2052
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine...	ORPHA:93325
Ring Chromosome 7 Syndrome	Plagiocephaly, Brachycephaly	ORPHA:1449
Holoprosencephaly 9	Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Iris coloboma	OMIM:610828
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol...	ORPHA:572333
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Branchiooculofacial Syndrome	Anophthalmia, Renal agenesis, Hypospadias, Cataract, Renal cyst, Retinal coloboma, Microphthalmia...	OMIM:113620
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Cataract, Hypospadias, Urinary incontinence, Webbed penis, Spastici...	ORPHA:261537
Mowat-Wilson Syndrome	Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, Iris colobo...	ORPHA:2152
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Fraser Syndrome 1	Anophthalmia, Hypospadias, Corneal opacity, Renal hypoplasia/aplasia, Bilateral microphthalmos, R...	OMIM:219000
Autosomal Dominant Cutis Laxa	Corneal opacity, Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Developmental catarac...	ORPHA:90348
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Keratoconjunctivitis sicca	ORPHA:285
Specc1L-Related Hypertelorism Syndrome	Brachycephaly	ORPHA:1519
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Brachycephaly	OMIM:610442
8Q24.3 Microdeletion Syndrome	Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, E...	ORPHA:508488
Viss Syndrome	Frontal bossing, Brachycephaly, Dolichocephaly, Dysphagia	OMIM:619472
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus	OMIM:130050
Pallister-Hall Syndrome	Short stature, Oligohydramnios, Umbilical hernia, Microphthalmia, Intrauterine growth retardation	ORPHA:672
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Brachyturricephaly	ORPHA:83617
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Limbal dermoid, Vesic...	OMIM:164210
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353277
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500

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.

Phenotype	Allele	Zygosity	Life Stage
Spleen - MPATH pathological entity term lymphoid hyperplasia	Maf^em1(IMPC)Mbp	HET	Late adult
Lymph node - MPATH pathological entity term lymphoid hyperplasia	Maf^em1(IMPC)Mbp	HET	Late adult
Lymph node - MPATH pathological process term hyperplasia	Maf^em1(IMPC)Mbp	HET	Early adult
Spleen - MPATH pathological process term hyperplasia	Maf^em1(IMPC)Mbp	HET	Late adult
Spleen - MPATH pathological process term hyperplasia	Maf^em1(IMPC)Mbp	HET	Early adult
Lymph node - MPATH pathological process term hyperplasia	Maf^em1(IMPC)Mbp	HET	Late adult

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 Maf.

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

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MGI Allele	Allele Type	Produced
Maf^em1(IMPC)Mbp	Deletion	Mice, Tissue

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: Maf MGI:96909

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

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X-ray

X-ray

Human diseases caused by Maf mutations

Histopathology

IMPC related publications

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