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Gene: Maf MGI:96909

Gene Summary

Name:

MAF bZIP transcription factor

Synonyms:

c-maf, A230108G15Rik, 2810401A20Rik

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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 heart	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged ovary	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
abnormal heart morphology	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal liver morphology	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
edema	Maf^em1(IMPC)Mbp	HOM	E15.5	0.00
increased circulating bilirubin level	Maf^em1(IMPC)Mbp	HET	Early adult	2.95×10^-05
abnormal ovary morphology	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
small liver	Maf^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal kidney morphology	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
small spleen	Maf^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
preweaning lethality, complete penetrance	Maf^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Maf^em1(IMPC)Mbp	HET	Early adult	0.00
increased grip strength	Maf^em1(IMPC)Mbp	HET	Middle aged adult	6.30×10^-05
enlarged kidney	Maf^em1(IMPC)Mbp	HET	Late 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
embryonic growth retardation	Maf^em1(IMPC)Mbp	HOM	E15.5	0.00
decreased prepulse inhibition	Maf^em1(IMPC)Mbp	HET	Early adult	9.00×10^-09
small kidney	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal spleen morphology	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal placenta vasculature	Maf^em1(IMPC)Mbp	HOM	E15.5	0.00
urinary bladder obstruction	Maf^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged spleen	Maf^em1(IMPC)Mbp	HET	Early adult	0.00
microphthalmia	Maf^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal liver size	Maf^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal blood vessel morphology	Maf^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Maf^em1(IMPC)Mbp	HOM	E15.5	0.00

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Gross Morphology Embryo E14.5-E15.5

Images

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MicroCT E14.5-E15.5

Embryo reconstruction

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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 (2007 diseases)

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

Disease	Matching phenotypes	Source
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I...	OMIM:610202
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Aymé-Gripp Syndrome	Brachycephaly, Plagiocephaly, Megalocornea, Developmental cataract, Cataract, Craniosynostosis	ORPHA:1272
Ayme-Gripp Syndrome	Craniofacial asymmetry, Developmental cataract, Brachycephaly	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	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Microcornea, 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
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Cataract 15, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:611391
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Cataract 20, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract	OMIM:116100
Cataract 3, Multiple Types	Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract	OMIM:601547
Cataract 30, Multiple Types	Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract	OMIM:116300
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Cataract 17, Multiple Types	Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea	OMIM:611544
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cataract 31, Multiple Types	Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract	OMIM:605387
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c...	OMIM:604307
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	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	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
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul...	OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer...	OMIM:619874
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Elevated circulating hepatic transaminase concentration, Tu...	OMIM:619902
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom...	OMIM:616278
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia	OMIM:237500
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I...	OMIM:610202
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Cataract 47	Cataract, Glycosuria, Microcornea	OMIM:612018
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Trichomegaly	Cataract	OMIM:190330
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal...	ORPHA:79234
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper...	OMIM:214900
Biliary Atresia, Extrahepatic	Cirrhosis, Hepatomegaly, Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Crigler-Najjar Syndrome, Type Ii	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:606785
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia, Coloboma	OMIM:251505
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia, Brachycephaly	ORPHA:2528
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Coloboma, Corneal opacity, Congenital aphakia, Anterior se...	OMIM:610256
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Spastic Paraparesis And Deafness	Cataract, Tremor	OMIM:312910
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hyperbilirubin...	OMIM:619256
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:218800
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni...	OMIM:614817
Rotor Syndrome	Hyperbilirubinemia, Jaundice, Intermittent jaundice, Conjugated hyperbilirubinemia	ORPHA:3111
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Iris coloboma	OMIM:616428
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c...	OMIM:217300
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Lens subluxation, Cataract	ORPHA:171844
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microphthalmia/Coloboma 3	Cataract, Microphthalmia, Iris coloboma	OMIM:610092
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Cataract 11, Multiple Types	Hypertonia, Microphthalmia, Chorea, Developmental cataract, Cataract	OMIM:610623
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir...	ORPHA:766
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Gilbert Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure, Unconjugated ...	OMIM:143500
Familial Renal Glucosuria	Recurrent urinary tract infections, Glycosuria, Nephropathy, Renal tubular dysfunction	ORPHA:69076
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal...	OMIM:605814
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Nathalie Syndrome	Cataract	ORPHA:2663
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Hematuria, Chorioretinal coloboma, Cataract, Iris coloboma	OMIM:120433
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera...	ORPHA:79302
Ethanolaminosis	Cardiomegaly	OMIM:227150
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:235555
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy	OMIM:121820
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Increas...	ORPHA:890
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit...	OMIM:243300
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Gómez-López-Hernández Syndrome	Brachycephaly, Turricephaly, Corneal opacity	ORPHA:1532
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Microphthalmia/Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h...	OMIM:619232
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Isolated Polycystic Liver Disease	Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease	ORPHA:2924
Diabetes Mellitus, Permanent Neonatal, 3	Athetosis, Glycosuria, Hyperglycemia, Type I diabetes mellitus, Ketonuria	OMIM:618857
X-Linked Retinoschisis	Cataract	ORPHA:792
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Episodic Ataxia, Type 1	Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech	OMIM:160120
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Optic Atrophy 3, Autosomal Dominant	Cataract, Tremor	OMIM:165300
Mantle Cell Lymphoma	Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:52416
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin...	OMIM:618892
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ectopic kidney, Spasticity, Death in infancy, Neonatal death, Cataract, Cystic re...	OMIM:613730
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Glucoglycinuria	Glycosuria, Hyperglycinuria	OMIM:138070
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:614480
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme...	ORPHA:83461
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Elevated circu...	OMIM:607765
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Ascites, Polycystic liver disease	OMIM:174050
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ...	OMIM:231680
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Redu...	OMIM:266200
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con...	OMIM:180550
Variegate Porphyria	Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Paralysis, Increased urinary porphobil...	OMIM:176200
Gombo Syndrome	Microphthalmia	OMIM:233270
Alexander Disease	Babinski sign, Death in childhood, Spasticity, Death in adolescence, Microcoria, Death in infancy...	OMIM:203450
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Spasticity, Tremor, Ataxia, Cataract	OMIM:278780
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Central Cloudy Dystrophy Of Francois	Corneal dystrophy, Central corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Microcornea, Retinal ...	OMIM:612109
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos	OMIM:251750
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly, Astigmatism, Hyperactivity, Compulsive behaviors, Motor tics, Attention ...	OMIM:619927
Weill-Marchesani Syndrome 3	Microspherophakia, Ectopia lentis, Shallow anterior chamber	OMIM:614819
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech	OMIM:613227
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:611638
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Dihydropyrimidine Dehydrogenase Deficiency	Hypertonia, Uraciluria, Microphthalmia, Elevated urinary dihydrothymine level, Tetraplegia, Coloboma	OMIM:274270
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con...	ORPHA:158057
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Hyperphenylalaninemia, Bh4-Deficient, D	Elevated urinary 7-biopterin level, Tremor, Hypertonia	OMIM:264070
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Aminoaciduria	OMIM:615605
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ...	ORPHA:234
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Edict Syndrome	Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris	OMIM:614303
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Peutz-Jeghers Syndrome	Abnormality of the gallbladder, Anemia, Renal cell carcinoma, Enlarged polycystic ovaries, Abnorm...	ORPHA:2869
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Renal tubular acidosis, Death in infancy, Glycosuria, Nephrocalcinosis, Pro...	OMIM:613404
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia, Impai...	OMIM:134600
Renal Hypoplasia, Bilateral	Astigmatism, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuri...	ORPHA:97362
Cataract 49	Posterior cortical cataract	OMIM:619593
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Malaria	Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Congenital Microcoria	Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris...	ORPHA:566
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia	OMIM:605479
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Fanconi Renotubular Syndrome 5	Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria	OMIM:618913
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
Leber Congenital Amaurosis 2	Cataract, Keratoconus, Eye poking	OMIM:204100
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Microphthalmia, Edema	OMIM:616570
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Pericardial effusion, Hyperechogenic kidneys, Ambig...	OMIM:613885
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Hematuria, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma, Catara...	ORPHA:1473
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Macular coloboma, Eye poking	OMIM:613835
Porphyria, Acute Hepatic	Elevated urinary delta-aminolevulinic acid, Paralysis, Respiratory paralysis	OMIM:612740
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract	OMIM:613581
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Neonatal death	OMIM:273680
Foveal Hypoplasia 2	Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea	OMIM:609218
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Cerulean cataract	OMIM:616732
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Tremor, ...	ORPHA:263455
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Conjugated hyperbilirubinemia, Cardi...	OMIM:269920
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Jaundice, Hepatomega...	OMIM:267700
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ...	OMIM:602088
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Increas...	OMIM:613313
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Microphthalmia, Coloboma, Peters anomaly, Iris coloboma	OMIM:610023
Trimethylaminuria	Depression, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra...	OMIM:614561
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Glucose/Galactose Malabsorption	Glycosuria, Abnormal oral glucose tolerance	OMIM:606824
Nanophthalmos 4	Microphthalmia	OMIM:615972
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract	OMIM:617547
Galactosemia Ii	Cataract	OMIM:230200
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Anterior Segment Dysgenesis 3	Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e...	OMIM:601631
Spondylo-Ocular Syndrome	Cataract, Iris hypopigmentation, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Elevated circulating hepatic transa...	OMIM:214950
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:79303
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Nanophthalmos	Microphthalmia	ORPHA:35612
Liver Failure, Infantile, Transient	Irritability, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated circulating hepa...	OMIM:613070
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia, Ketonuria	ORPHA:2089
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Galactosemia Iv	Cataract	OMIM:618881
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Hypoglycemia, Diabetes mellitus, Am...	OMIM:616026
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating S-adenosyl-L-homocysteine concentration, Portal fibrosis, Hyperbilirubinemia...	OMIM:614300
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Reduced haptoglobin level, Anemia, Reduced hematocrit, Hyperbilirubinemia, Anemia o...	OMIM:613673
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Caroli Disease	Anorexia, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegal...	ORPHA:53035
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto...	ORPHA:464440
Brittle Cornea Syndrome 1	Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Keratoglobus	OMIM:229200
Fanconi-Bickel Syndrome	Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Fasting hypoglycemia, Impaired...	ORPHA:2088
Meacham Syndrome	Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a...	OMIM:608978
Exudative Vitreoretinopathy 6	Cataract, Cortical cataract, Nuclear cataract	OMIM:616468
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Mody	Abnormality of the kidney, Neonatal hypoglycemia, Hypoinsulinemia, Renal cyst, Glycosuria, Hyperg...	ORPHA:552
Galactosemia Iii	Jaundice, Hypergalactosemia, Splenomegaly, Hepatomegaly	OMIM:230350
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro...	OMIM:251880
Autosomal Dominant Keratitis	Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
Leber Congenital Amaurosis 1	Cataract, Keratoconus, Eye poking	OMIM:204000
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome	OMIM:268315
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microphthalmia, Microcornea, Remnants of the hyaloid vascular system, Chori...	ORPHA:231736
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy...	OMIM:618280
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ...	OMIM:608709
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg...	OMIM:602347
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Death in childhood, Truncal ataxia, Glycosuria, Hyperphosphaturia, Ataxia, Proteinuria, Aminoacid...	OMIM:220110
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Ba...	ORPHA:47159
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Spastic tetraparesis, Glycosuria, Hyperphosphaturia, Ataxia, Proteinuria, Abnormal pyramidal sign...	ORPHA:436271
Cat-Eye Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Hydronephrosis, Chorioretinal coloboma, Abnormal locali...	ORPHA:195
Uveal Melanoma	Mydriasis, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Iris melanoma	ORPHA:39044
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi...	OMIM:300908
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Desanto-Shinawi Syndrome	Brachycephaly, Agitation, Astigmatism, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:616708
Iga Nephropathy, Susceptibility To, 2	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:613944
Aniridia-Intellectual Disability Syndrome	Cataract, Ectopia lentis, Aniridia	ORPHA:1068
Dystonia 27	Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo...	OMIM:616411
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Renal Failure, Progressive, With Hypertension	Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:161900
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A...	ORPHA:98769
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly, Self-injurious behavior, Aggressive behavior	OMIM:300699
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly, Aggressive behavior	OMIM:309530
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Elevated urinary coproporphyrin level, Increased urin...	OMIM:121300
Opitz Gbbb Syndrome	Atrial septal defect, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Bifid scrotum, Bi...	ORPHA:2745
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Hand tremor	ORPHA:401830
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Rabson-Mendenhall Syndrome	Atrial septal defect, Clitoral hypertrophy, Long penis, Cardiomyopathy, Precocious puberty, Nephr...	ORPHA:769
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega...	OMIM:607616
Dermatitis, Atopic	Cataract, Keratoconus, Conjunctivitis	OMIM:603165
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Irritability, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopeni...	OMIM:603553
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Laurence-Moon Syndrome	Cataract, Brachycephaly, Iris coloboma	ORPHA:2377
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Plagiocephaly, Dolichocephaly, Brachycephaly	ORPHA:272
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Primary Dystonia, Dyt13 Type	Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio...	ORPHA:98807
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Tremor, Urinary bladder...	OMIM:600363
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Conjugated hyp...	OMIM:619484
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Caroli Syndrome	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs...	ORPHA:480520
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Biliary cirrhosis, Enlarged polycystic ovaries, Glycosuria, N...	ORPHA:2298
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly, Hyperactivity, Recurrent hand flapping, Blue irides, Self-mutilation, Aggressive b...	OMIM:615516
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa...	ORPHA:75234
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl...	OMIM:613490
Hypermanganesemia With Dystonia 1	Decreased liver function, Cirrhosis, Increased total iron binding capacity, Hepatomegaly, Elevate...	OMIM:613280
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Reduced haptoglobin level, Decreased erythrocyte fructose-1,6-bispho...	OMIM:611881
Galactokinase Deficiency	Cataract, Nuclear cataract	ORPHA:79237
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Irritability, Intrahepatic cholestasis, Increased serum bile acid concentration, Hyperbilirubinem...	OMIM:619685
Nail-Patella Syndrome	Microphakia, Keratoconus, Microcornea, Antecubital pterygium, Cataract, Lester's sign	OMIM:161200
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:300915
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Leber Congenital Amaurosis 4	Keratoconus	OMIM:604393
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Long penis, Hypercalciuria, Hypertrophic car...	ORPHA:508
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go...	ORPHA:91348
Segawa Syndrome, Autosomal Recessive	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Sandhoff Disease, Adult Form	Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia	ORPHA:309169
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Leber Congenital Amaurosis	Cataract, Keratoconus	ORPHA:65
Cholestasis, Progressive Familial Intrahepatic, 5	Cirrhosis, Jaundice, Ascites, Elevated circulating alanine aminotransferase concentration, Hypera...	OMIM:617049
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ...	OMIM:136800
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Renal phosphate wasting, Proximal tubulopathy, Microscopic hema...	ORPHA:411634
Intrahepatic Cholestasis Of Pregnancy	Jaundice, Elevated circulating hepatic transaminase concentration, Increased serum bile acid conc...	ORPHA:69665
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Remna...	OMIM:221900
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Chorea, Microcornea, Intention tremor, Ataxia, Abnormal pyramidal sign, Cataract,...	ORPHA:48431
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Death in childhood, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enter...	OMIM:301108
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Aniridia 2	Cataract, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R...	ORPHA:3337
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria	ORPHA:178377
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Elevated c...	OMIM:608836
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Senior-Boichis Syndrome	Polydipsia, Cirrhosis, Agitation, Anemia, Elevated circulating hepatic transaminase concentration...	ORPHA:84081
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract, Coloboma	ORPHA:324416
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Thickened glomerular basemen...	OMIM:203780
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus	ORPHA:401901
Fanconi-Bickel Syndrome	Generalized aminoaciduria, Renal tubular dysfunction, Hypercalciuria, Fasting hypoglycemia, Beta ...	OMIM:227810
Non-Distal Duplication 10Q	Aplasia/Hypoplasia affecting the eye, Frontal bossing, Brachycephaly	ORPHA:1695
Adenylosuccinate Lyase Deficiency	Brachycephaly, Flat occiput	ORPHA:46
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly, Microphthalmia, Coloboma, Dysphagia, Cataract	OMIM:612379
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
2Q24 Microdeletion Syndrome	Abnormality iris morphology, Coloboma, Microphthalmia, Cataract	ORPHA:1617
Pierpont Syndrome	Brachycephaly, Microcornea, Microphthalmia	ORPHA:487825
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst...	OMIM:607317
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly, Astigmatism, Compulsive behaviors	OMIM:615761
Nathalie Syndrome	Cataract	OMIM:255990
Wilson Disease	Sunflower cataract, Increased urinary copper concentration, Hypercalciuria, Kayser-Fleischer ring...	OMIM:277900
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Hyperbilirubinemi...	OMIM:601775
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Lipoyltransferase 1 Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Increased tota...	OMIM:616299
Autism, Susceptibility To, X-Linked 2	Inflexible adherence to routines, Plagiocephaly, Restrictive behavior, Motor stereotypy	OMIM:300495
Immunodeficiency 69	Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom...	OMIM:618963
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Maturity-onset diabetes of the young, Hypospadias, Unilateral renal ag...	OMIM:137920
Dystonia 28, Childhood-Onset	Astigmatism, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial d...	OMIM:617284
Complement Component C1R/C1S Deficiency	Arthritis, Discoid lupus rash, Nephritis	OMIM:216950
Rudiger Syndrome	Ureterovesical stenosis, Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Glut1 Deficiency Syndrome 2	Irritability, Reduced haptoglobin level, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612126
Dystonia 3, Torsion, X-Linked	Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication...	OMIM:314250
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom...	OMIM:130650
Wolcott-Rallison Syndrome	Jaundice, Hepatomegaly, Iron deficiency anemia, Elevated circulating hepatic transaminase concent...	ORPHA:1667
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Corneal crystals, Renal Fanconi ...	ORPHA:411629
Ectopia Lentis Et Pupillae	Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	OMIM:225200
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Aicardi-Goutieres Syndrome 6	Irritability, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Otodental Syndrome	Microphthalmia, Microcornea, Retinal coloboma, Lens coloboma, Cataract, Iris coloboma	ORPHA:2791
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hepatic steat...	OMIM:612526
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Turricephaly, Craniosynostosis, Hyperactivity, Self-injurious behavior, Opacificat...	OMIM:601853
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Parkinson Disease 6, Autosomal Recessive Early-Onset	Bradykinesia, Resting tremor, Urinary urgency, Rigidity, Dystonia, Parkinsonism	OMIM:605909
Iga Nephropathy, Susceptibility To, 1	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:161950
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Nuclear cataract	ORPHA:2848
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia, Cholestasis, Polyphagia	OMIM:609734
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Spherocytosis, Hypoch...	ORPHA:71275
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthinuria, Decreased urinary sulfate, Lens luxation, Increased urinary taurine, Decreased urina...	OMIM:252150
Aniridia 1	Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ...	OMIM:106210
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr...	ORPHA:98870
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:79084
Frontofacionasal Dysplasia	Brachycephaly, Microphthalmia, Microcornea, Brushfield spots, Cataract, Limbal dermoid, Iris colo...	ORPHA:1791
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing, Dysphagia	OMIM:264470
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Urinary incontinence, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dyst...	OMIM:213600
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Impulsivity, Lens coloboma, Motor stereotypy, Self-injurious behavior, Aggressive...	OMIM:618914
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia	OMIM:618425
Molybdenum Cofactor Deficiency, Complementation Group B	Hypertonia, Xanthinuria, Lens luxation, Increased urinary taurine, Decreased urinary urate, Myocl...	OMIM:252160
Rh-Null, Regulator Type	Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia	OMIM:268150
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Babinski sign, Hypertonia, Spasticity, Tremor, Glycosuria, Glucose intolerance, Renal tubular dys...	OMIM:616539
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Hypoplasia of the bladder, Renal h...	ORPHA:85284
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, H...	OMIM:617156
Chromosome 5P13 Duplication Syndrome	Brachycephaly, Astigmatism, Turricephaly, Craniosynostosis, Compulsive behaviors, Frontal bossing...	OMIM:613174
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Inappropriate laughter, Recurrent hand flapping	OMIM:618859
Pierpont Syndrome	Brachycephaly, Microcornea, Microphthalmia	OMIM:602342
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Hyaloid vascular remnant and retrolental mass, Microcornea, Corneal opacity, Pers...	ORPHA:91495
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Crouzon Syndrome	Brachycephaly, Turricephaly, Multiple suture craniosynostosis, Frontal bossing, Conjunctivitis, I...	ORPHA:207
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Frequent falls	OMIM:160565
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ...	ORPHA:858
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract, Brachycephaly	ORPHA:1387
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating creatine kinase concentration, Reti...	OMIM:232800
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Death in childhood, Hypoplasia of the ciliary body, Microco...	OMIM:609049
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Microphthalmia, Syndromic 12	Microphthalmia, Neonatal death, Anophthalmia	OMIM:615524
Spinocerebellar Ataxia 40	Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare...	OMIM:616053
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Plagiocephaly, Agitation, Ocular anterior segment dysgenesis, Bilateral microphtha...	ORPHA:369891
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Nephritis, Myoclonus, Renal insufficiency, Slurred speech	ORPHA:3327
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Ectopia Lentis 1, Isolated, Autosomal Dominant	Microspherophakia, Ectopia lentis, Shallow anterior chamber	OMIM:129600
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Acute he...	OMIM:278000
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Cofs Syndrome	Cataract, Hypertonia, Microphthalmia, Death in infancy	ORPHA:1466
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Oculopalatocerebral Syndrome	Spasticity, Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Beta-Thalassemia	Irritability, Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Thrombocytop...	ORPHA:848
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Facial Clefting, Oblique, 1	Coloboma, Microphthalmia	OMIM:600251
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ascites, Enlarged polycystic ovaries, Ovarian cyst, Increased circulati...	ORPHA:64739
Dystonia 11, Myoclonic	Tremor, Myoclonus, Torticollis, Writer's cramp	OMIM:159900
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Long-Olsen-Distelmaier Syndrome	Cataract, Optic nerve hypoplasia, Death in childhood, Microspherophakia	OMIM:620609
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls	OMIM:616921
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Dystonia, Death in childhood, Myoclonus	OMIM:619651
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Mirizzi Syndrome	Anorexia, Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholel...	ORPHA:521219
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Polyphagia, Platystencephaly, Dolichocephaly	OMIM:618774
Biemond Syndrome Type 2	Microphthalmia, Hypospadias, Coloboma	ORPHA:141333
Cystathioninuria	Cystathioninuria, Tremor, Nephrolithiasis	ORPHA:212
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia, Oculomotor apraxia, Coloboma	OMIM:615665
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi...	ORPHA:95715
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Microphthalmia	OMIM:616171
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite...	OMIM:615710
Atypical Pantothenate Kinase-Associated Neurodegeneration	Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia...	ORPHA:216873
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U...	ORPHA:449395
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er...	OMIM:301083
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,...	ORPHA:75563
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly, Hyperopic astigmatism	OMIM:607313
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormally prominent line of Schwalbe, Rieger anomaly, Brachycephaly	OMIM:109120
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232200
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Spinocerebellar Ataxia 48	Babinski sign, Urinary incontinence, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism,...	OMIM:618093
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Bilateral Acute Depigmentation Of The Iris	Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe...	ORPHA:69736
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Apraxia, Abnormality of the upper urinary tract, Gl...	ORPHA:99885
Developmental And Epileptic Encephalopathy 1	Hypertonia, Microphthalmia, Erratic myoclonus, Spastic tetraparesis, Dystonia, Abnormal pyramidal...	OMIM:308350
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Renal insufficiency, Abnormality of extrapyramidal motor function, Dysuria, ...	ORPHA:79233
Immunodeficiency 27A	Anorexia, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesen...	OMIM:209950
X-Linked Recessive Ocular Albinism	Astigmatism, Iris hypopigmentation, Hypoplasia of the fovea, Abnormal pupil morphology, Ocular al...	ORPHA:54
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,...	OMIM:613270
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia	ORPHA:95717
Scorpion Envenomation	Myocarditis, Mydriasis, Acute kidney injury, Hyperkinetic movements, Tremor, Hemifacial spasm, Ac...	ORPHA:466677
Microphthalmia, Isolated 5	Cataract, Microphthalmia	OMIM:611040
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly	OMIM:620200
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasis, Jaundic...	OMIM:614887
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism	OMIM:618188
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Increased circulating iron concentration, Splenomegaly, Increased circul...	OMIM:602390
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Cystinosis, Nephropathic	Recurrent corneal erosions, Low-molecular-weight proteinuria, Polyuria, Hematuria, Generalized am...	OMIM:219800
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Hepatic failure	ORPHA:664
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Hemiballismus, Frequent falls, Tremor, Chorea	ORPHA:494526
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar...	ORPHA:3467
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Even-Plus Syndrome	Cataract, Brachycephaly	OMIM:616854
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Lower limb spasticity, ...	ORPHA:251282
Spinocerebellar Ataxia 38	Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:615957
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Graft Versus Host Disease	Irritability, Jaundice, Elevated circulating hepatic transaminase concentration, Hemophagocytosis...	ORPHA:39812
Osteopetrosis, Autosomal Recessive 5	Irritability, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hy...	OMIM:259720
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p...	ORPHA:785
Phenylketonuria	Lower limb spasticity, Tremor, Eczematoid dermatitis, Ataxia, Phenylalaninuria	ORPHA:716
Microphthalmia/Coloboma 12	Microphthalmia, Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, ...	OMIM:120200
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Coloboma, Sclerocornea, Ectopia pupillae,...	OMIM:615877
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Microphthalmia, Retinal coloboma	OMIM:601794
H Syndrome	Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased testicular si...	ORPHA:168569
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly	OMIM:309545
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla...	OMIM:615234
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Polycystic ovaries, Hypergonadotropic hypogonadism	ORPHA:2229
Xq28 (MECP2) duplication	Brachycephaly, Death in childhood, Dysphagia, Motor stereotypy	DECIPHER:45
Relapsing Fever	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulating C...	ORPHA:91547
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Microphthalmia, Beta-alaninuria, Dystonia, Elevated urinar...	OMIM:614105
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Babesiosis	Anorexia, Jaundice, Hepatomegaly, Depression, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolyt...	ORPHA:108
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Limb ataxia, Mydriasis, Progressive cerebellar ataxia, Truncal ataxia, Type II diabetes mellitus,...	ORPHA:247815
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Dystonia, Frequent falls, Myoclonus	OMIM:619647
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Dysphagia, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Jaundice, Intrahepatic cholestasis, Elevated circulating alanine aminot...	OMIM:617093
Greig Cephalopolysyndactyly Syndrome	Abnormal calvaria morphology, Keratoconus, Trigonocephaly, Frontal bossing, Dolichocephaly, Crani...	OMIM:175700
Hijazi-Reis Syndrome	Hyperbilirubinemia, Motor stereotypy	OMIM:301094
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Elevated urinary homovanillic acid, Incoordination, Dysdiadochokinesis, Tremor...	OMIM:618049
Craniosynostosis 6	Brachycephaly, Plagiocephaly, Turricephaly, Bicoronal synostosis, Parietal foramina, Right unilam...	OMIM:616602
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina, Turricephaly	OMIM:601224
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Anterior polar cataract, Nephrotic syndrome, Microscopic hematuria, Thickened glomerul...	OMIM:104200
Spastic Ataxia 2, Autosomal Recessive	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head...	OMIM:611302
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Developmental cataract, Death in infancy	OMIM:600559
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Microphthalmia, Retinal coloboma	ORPHA:363741
Nephronophthisis 11	Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Anisocoria, Renal tubular a...	OMIM:613550
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Corneal scarring, Chorioretinal coloboma, Cataract, Buphthalmos, Iris coloboma	OMIM:212550
Norrie Disease	Microphthalmia, Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, L...	OMIM:310600
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Clark-Baraitser Syndrome	Hyperactivity, Dolichocephaly, Brachycephaly, Aggressive behavior	OMIM:617752
Alg9-Cdg	Atrial septal defect, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal left ventricul...	ORPHA:79328
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Developmental cataract, Ataxia	ORPHA:1368
Mevalonic Aciduria	Cataract, Nuclear cataract	OMIM:610377
Preeclampsia	Acute kidney injury, Abnormality of the kidney, Elevated circulating hepatic transaminase concent...	ORPHA:275555
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Brachycephaly, Microphthalmia, Anterior plagiocephaly, Frontal bossing, Cataract	ORPHA:163649
Leishmaniasis	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concen...	ORPHA:507
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic syndrome, B...	ORPHA:505248
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carci...	ORPHA:186
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis...	OMIM:608885
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis, Recurrent urinary tract infections, Nephrolithiasis, Fetal pyelectasis, Megacystis	OMIM:619365
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventricular hypertrop...	ORPHA:335
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Hepatomegaly, Splenomegaly, Motor stereotypy	OMIM:615637
Reynolds Syndrome	Calcinosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:613471
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Death in childhood, Developmental cataract, Cataract, Micropenis	OMIM:610756
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
Papillorenal Syndrome	Microphthalmia, Hematuria, Horseshoe kidney, Lens luxation, Chorioretinal atrophy, Vesicoureteral...	OMIM:120330
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
Hsd10 Disease	Tremor, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Elevated urinary 3-hydroxybutyric acid,...	ORPHA:391417
Glutathionuria	Glutathionuria, Urinary incontinence, Dysdiadochokinesis, Tremor, Eczematoid dermatitis, Action t...	OMIM:231950
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Depression, Thrombocytopenia, Splenomegaly	OMIM:231000
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Mmep Syndrome	Microphthalmia	ORPHA:3434
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Kniest Dysplasia	Cataract, Lens luxation, Aplasia/Hypoplasia of the lens	ORPHA:485
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Myasthenia Gravis	Myositis, Rheumatoid arthritis, Glycosuria, Hashimoto thyroiditis, Hepatitis	ORPHA:589
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Unilateral renal agenesis, Hypospadias, Abnormal o...	ORPHA:95699
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis	OMIM:615924
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Aromatase Deficiency	Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female...	ORPHA:91
Seckel Syndrome 10	Acute pancreatitis, Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Insulin resistance...	OMIM:617253
Warburg Micro Syndrome 3	Brachycephaly, Microphthalmia, Microcornea, Shallow anterior chamber, Developmental cataract, Cat...	OMIM:614222
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Alport Syndrome 1, X-Linked	Corneal erosion, Renal insufficiency, Nephrotic syndrome, Microscopic hematuria, Thickened glomer...	OMIM:301050
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Urinary incontinence, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait ataxia, D...	OMIM:617145
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Arthritis, Uric acid ne...	ORPHA:411536
Congenital Disorder Of Glycosylation, Type Iij	Irritability, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, S...	OMIM:613489
Hyperphenylalaninemia, Bh4-Deficient, B	Decreased urinary biopterin level, Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dys...	OMIM:233910
2Q23.1 Microdeletion Syndrome	Brachycephaly, Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal b...	ORPHA:228402
Chromosome 3Q13.31 Deletion Syndrome	Attention deficit hyperactivity disorder, Plagiocephaly, Dolichocephaly, Brachycephaly	OMIM:615433
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increased hepatic gl...	ORPHA:79259
Kury-Isidor Syndrome	Attention deficit hyperactivity disorder, Frontal bossing, Astigmatism, Brachycephaly	OMIM:619762
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ...	OMIM:212140
Fructose-1,6-Bisphosphatase Deficiency	Irritability, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuricemi...	ORPHA:348
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Ascites, Abnormality of the ovary, Peritonitis, Gonadal calcifi...	ORPHA:314473
Congenital Rubella Syndrome	Microphthalmia, Skin rash, Corneal opacity, Type I diabetes mellitus, Cataract, Aplasia/Hypoplasi...	ORPHA:290
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Neu...	ORPHA:79312
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Leber Congenital Amaurosis 9	Keratoconus, Macular coloboma, Eye poking	OMIM:608553
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Frontal bossing, Developmental glaucoma, Aniridia	OMIM:206750
Hyperbiliverdinemia	Decreased liver function, Elevated circulating biliverdin concentration, Cholestasis, Cholelithiasis	OMIM:614156
Warburg Micro Syndrome 2	Brachycephaly, Microphthalmia, Microcornea, Developmental cataract, Cataract	OMIM:614225
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ...	ORPHA:521406
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem...	OMIM:614377
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hyperbilirubinemia, Elev...	OMIM:614886
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera...	ORPHA:251004
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Brittle Cornea Syndrome	Corneal erosion, Keratoglobus, Corneal dystrophy, Decreased corneal thickness, Corneal scarring	ORPHA:90354
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t...	ORPHA:3109
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical...	OMIM:220150
Optic Atrophy-Intellectual Disability Syndrome	Optic disc hypoplasia, Keratoconus, Optic nerve hypoplasia, Compulsive behaviors, Repetitive comp...	ORPHA:401777
Warburg Micro Syndrome 4	Brachycephaly, Microcornea, Microphthalmia, Developmental cataract	OMIM:615663
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Elevated circulating hepatic transamin...	OMIM:208085
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Death in childhood, Coloboma, Corneal opacity, Cataract	OMIM:613153
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Ankle clonus	OMIM:615768
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Crouzon Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Frontal bossing, Keratitis,...	OMIM:123500
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hyp...	OMIM:618641
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synostosis, Optic nerve hypoplasia, Flat oc...	OMIM:618736
Arthrogryposis, Distal, Type 5	Keratoconus, Astigmatism, Keratoglobus	OMIM:108145
Weill-Marchesani Syndrome 1	Brachycephaly, Microspherophakia, Broad skull, Ectopia lentis, Shallow anterior chamber, Cataract	OMIM:277600
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Frontal bossing, Coloboma, Plagiocephaly	OMIM:616789
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Anorexia, Elevated plasma citrulline, Hepatomegaly, Abnormal temper tantrums, Hy...	ORPHA:3008
Isolated Aniridia	Cataract, Peters anomaly, Aniridia	ORPHA:250923
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Spastic Paraplegia 9B, Autosomal Recessive	Babinski sign, Urinary incontinence, Tetraplegia, Tremor, Spasticity, Spastic paraplegia, Catarac...	OMIM:616586
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Agitation, Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Hyperproli...	OMIM:619046
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries	ORPHA:280356
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Microphthalmia	OMIM:251270
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, Microcornea, Sclerocornea, Chorioretinal coloboma, Cataract, Iris c...	ORPHA:139471
Lathosterolosis	Bilobate gallbladder, Anisopoikilocytosis, Intrahepatic cholestasis, Hyperbilirubinemia, Elevated...	OMIM:607330
Familial Dysautonomia	Abnormality of the kidney, Glomerulopathy, Corneal erosion, Corneal opacity, Heterochromia iridis...	ORPHA:1764
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Saccharopinuria	Cystinuria, Tremor, Gait ataxia, Hyperlysinuria, Spastic diplegia, Citrullinuria	ORPHA:3124
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card...	OMIM:261740
Chromosome 2Q37 Deletion Syndrome	Brachycephaly, Hyperactivity, Stereotypical hand wringing, Skin-picking, Motor stereotypy, Self-i...	OMIM:600430
Microtriplication 11Q24.1	Keratoconus, Bruxism	ORPHA:289522
Woolly Hair Nevus	Persistent pupillary membrane, Heterochromia iridis	ORPHA:79414
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Chromosome 6Pter-P24 Deletion Syndrome	Brachycephaly, Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Front...	OMIM:612582
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina	ORPHA:52022
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Alport Syndrome	Recurrent corneal erosions, Renal glomerular foam cells, Glomerular C3 deposition, Tubulointersti...	ORPHA:63
Classic Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly	ORPHA:391
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Arthritis, Uric acid nephrolithiasis, Crystalluria, Ata...	ORPHA:411543
Aniridia 3	Cataract, Aniridia	OMIM:617142
Pearson Marrow-Pancreas Syndrome	Anorexia, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic tra...	OMIM:557000
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Astigmatism, Sclerocornea, Brachycephaly	ORPHA:2095
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Irritability, Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocyto...	OMIM:618278
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Self-injurious behavior, Developmental cataract, Plagiocephaly	ORPHA:261652
Fructose Intolerance, Hereditary	Bicarbonaturia, Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperphosphaturia, Pro...	OMIM:229600
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Hyperactivity, Compulsive behaviors, Frontal bossing, Motor stereot...	OMIM:618430
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Cutis Laxa, Autosomal Recessive, Type Iiia	Corneal arcus, Frontal bossing, Brachycephaly, Cataract	OMIM:219150
Muenke Syndrome	Brachycephaly, Plagiocephaly, Cloverleaf skull, Coronal craniosynostosis, Attention deficit hyper...	OMIM:602849
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr...	OMIM:308240
Thyrocerebroretinal Syndrome	Nephritis, Ataxia, Slurred speech, Myoclonus	OMIM:274240
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona...	ORPHA:261529
Hereditary Coproporphyria	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria, Dar...	ORPHA:79273
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring	OMIM:602082
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Camptodactyly Syndrome, Guadalajara Type 1	Brachycephaly, Microcornea	ORPHA:1327
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis	OMIM:612247
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Retinitis Pigmentosa 86	Cortical cataract	OMIM:618613
Corticobasal Syndrome	Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo...	ORPHA:454887
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Frontal bossing, Astigmatism, Plagiocephaly	OMIM:617296
8Q12 Microduplication Syndrome	Attention deficit hyperactivity disorder, Brachycephaly	ORPHA:228399
Distal Xq28 Microduplication Syndrome	Depression, Impulsivity, Stereotypical body rocking, Neonatal hyperbilirubinemia, Attention defic...	ORPHA:293939
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cataract, Plagiocephaly	OMIM:617481
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor...	OMIM:613135
Intellectual Developmental Disorder, Autosomal Dominant 74	Brachycephaly, Motor tics	OMIM:620688
Iatrogenic Botulism	Mydriasis, Diaphragmatic paralysis, Urinary retention, Cerebral palsy	ORPHA:254509
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Spasticity, Astigmatism, Microphthalmia	OMIM:619694
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal...	ORPHA:116
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Pearson Syndrome	Corneal stromal edema, Renal cyst, Glycosuria, Ataxia, Proteinuria, Cataract, Diabetes mellitus, ...	ORPHA:699
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cataract, Flat occiput, Brachycephaly	OMIM:618797
Wound Botulism	Mydriasis, Diaphragmatic paralysis, Urinary retention, Cerebral palsy	ORPHA:178475
Intellectual Developmental Disorder, Autosomal Dominant 26	Hyperactivity, Brachycephaly	OMIM:615834
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Heterochromia iridis	ORPHA:66633
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Coloboma, Cataract, Micropenis	OMIM:610125
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia, Cataract	OMIM:614307
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos, Horseshoe kidney, Coloboma	OMIM:619318
Spinocerebellar Ataxia 42	Spastic gait, Babinski sign, Urinary incontinence, Tremor, Urinary urgency, Ataxia, Spastic ataxi...	OMIM:616795
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Developmental cataract, Spastic diplegia	OMIM:600118
Craniosynostosis 2	Brachycephaly, Turricephaly, Unicoronal synostosis, Bicoronal synostosis, Trigonocephaly, Frontal...	OMIM:604757
Congenital Heart Defects And Ectodermal Dysplasia	Attention deficit hyperactivity disorder, Frontal bossing, Brachycephaly	OMIM:617364
Macrophage Activation Syndrome	Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Elevated ...	ORPHA:158061
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Dolichocephaly, Prominent occiput	OMIM:618672
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Decreased glomerular filtration rate, Nephropathy, Nephritis, Renal tubular atrophy, Gout, Renal ...	OMIM:162000
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Frontal bossing, Aggressive behavior	OMIM:615828
Houge-Janssens Syndrome 3	Plagiocephaly, Megalocornea, Frontal bossing, Motor stereotypy, Attention deficit hyperactivity d...	OMIM:618354
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hypertonia, Tremor, Nephrotic syndrome, Proteinuria, Type I diabetes mellitus, Nephropathy	ORPHA:1192
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Myh9-Related Disease	Renal insufficiency, Presenile cataracts, Nephritis, Proteinuria, Nephropathy	ORPHA:182050
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Unilambdoid synostosis	OMIM:618577
Norrie Disease	Microphthalmia, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Hypoplasia of the iris...	ORPHA:649
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Anorexia, Pancytopeni...	ORPHA:77259
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Zonular cataract	OMIM:222765
Temtamy Syndrome	Microphthalmia, Chorioretinal coloboma, Iris coloboma	ORPHA:1777
Phacoanaphylactic Uveitis	Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante...	ORPHA:209959
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Dysphagia	ORPHA:89844
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Depression, Elevated circulating creatine kinase concent...	OMIM:300842
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni...	OMIM:612651
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Inverted Duplicated Chromosome 15 Syndrome	Brachycephaly, Hyperactivity, Motor stereotypy, Self-biting, Aggressive behavior	ORPHA:3306
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic...	ORPHA:2348
Richieri-Costa/Guion-Almeida Syndrome	Brachycephaly, Iris coloboma	OMIM:268850
Osteopathia Striata-Cranial Sclerosis Syndrome	Brachycephaly, Flat occiput, Frontal bossing, Facial hyperostosis, Cataract, Thickened calvaria	ORPHA:2780
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech	OMIM:609161
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Farber Lipogranulomatosis	Irritability, Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Vitreoretinochoroidopathy	Microcornea, Developmental cataract, Pulverulent cataract	OMIM:193220
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Smith-Magenis Syndrome	Brachycephaly, Hyperactivity, Head-banging, Self hugging, Motor stereotypy, Onychotillomania, Sel...	OMIM:182290
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Tics, Frontal bossing, Plagiocephaly	OMIM:619264
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating he...	ORPHA:14
Microphthalmia/Coloboma 9	Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Sclerocornea, ...	OMIM:615145
Angelman Syndrome	Astigmatism, Tongue thrusting, Hyperactivity, Keratoconus, Recurrent hand flapping, Polyphagia, I...	ORPHA:72
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react...	OMIM:613011
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus	ORPHA:98763
Niemann-Pick Disease, Type A	Irritability, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Asci...	OMIM:257200
Alagille Syndrome	Renal hypoplasia/aplasia, Keratoconus, Corneal dystrophy, Abnormality of the ureter, Nephrotic sy...	ORPHA:52
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Duane Retraction Syndrome	Aniridia, Ectopic kidney, Oculomotor apraxia, Optic disc hypoplasia, Microcornea, Blepharospasm, ...	ORPHA:233
Primary Myelofibrosis	Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Port...	ORPHA:824
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Hypertr...	OMIM:201475
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly	ORPHA:320385
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the ...	ORPHA:2547
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Brachycephaly, Aggressive behavior	OMIM:300958
Stromme Syndrome	Stillbirth, Microphthalmia, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bi...	OMIM:243605
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Bile duct proliferation, Intrauterine gr...	OMIM:603194
Stevenson-Carey Syndrome	Brachycephaly, Microphthalmia, Coloboma	OMIM:611961
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren...	OMIM:255120
Familial Thyroid Dyshormonogenesis	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Neonatal hyperbili...	ORPHA:95716
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Lissencephaly 8	Cataract, Microphthalmia, Appendicular spasticity	OMIM:617255
Spinocerebellar Ataxia 7	Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore...	OMIM:164500
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr...	OMIM:606003
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Chromosome 3Pter-P25 Deletion Syndrome	Brachycephaly, Trigonocephaly, Dolichocephaly, Flat occiput, Macular hypoplasia	OMIM:613792
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Hemiballismus, Hypertonia, Urinary incontinence, Truncal ataxia, Spasticity, Tremor...	OMIM:618877
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Smith-Magenis Syndrome	Brachycephaly, Microcornea, Frontal bossing, Motor stereotypy, Attention deficit hyperactivity di...	ORPHA:819
Foodborne Botulism	Mydriasis, Diaphragmatic paralysis, Cerebral palsy, Paralysis, Urinary retention	ORPHA:228371
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly	OMIM:615031
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, ...	OMIM:226990
Weill-Marchesani Syndrome 2	Brachycephaly, Iridodonesis, Astigmatism, Microspherophakia, Lens luxation, Broad skull, Ectopia ...	OMIM:608328
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Dystonia 12	Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism	OMIM:128235
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t...	OMIM:618886
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract	OMIM:601701
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Hartsfield Syndrome	Intrauterine growth retardation, Microphthalmia, Encephalocele	ORPHA:2117
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Angelman Syndrome	Brachycephaly, Hyperactivity, Flat occiput, Blue irides, Paroxysmal bursts of laughter	OMIM:105830
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic trans...	ORPHA:42
2Q32Q33 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Brachycephaly, Aggressive behavior	ORPHA:251019
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly, Aggressive behavior	OMIM:616083
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Bachmann-Bupp Syndrome	Attention deficit hyperactivity disorder, Hyperbilirubinemia, Aggressive behavior	OMIM:619075
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly	OMIM:309541
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Nephroblastoma	OMIM:253250
Ovarian Fibrothecoma	Ovarian fibroma, Ascites, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis,...	ORPHA:314478
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Craniosynostosis	OMIM:614416
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly, Dysphagia	ORPHA:70472
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Microphthalmia, Cheilitis, Corneal opacity, Death in infancy, Nephrocalcino...	ORPHA:534
Cataract 48	Cataract	OMIM:618415
Sneddon Syndrome	Chorea, Hemiparesis, Tremor, Nephropathy	ORPHA:820
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Nance-Horan Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:627
Prune1-Related Neurological Syndrome	Cataract, Plagiocephaly	ORPHA:544469
Intellectual Developmental Disorder, Autosomal Dominant 1	Brachycephaly, Astigmatism, Recurrent hand flapping, Polyphagia, Frontal bossing, Inappropriate l...	OMIM:156200
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ...	OMIM:252500
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ...	ORPHA:231222
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovar...	ORPHA:79083
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovaries, Vent...	ORPHA:1770
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Acute Bilirubin Encephalopathy	Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529808
Temtamy Syndrome	Hypertonia, Microphthalmia, Lens luxation, Ectopia lentis, Chorioretinal coloboma, Iris coloboma	OMIM:218340
Axenfeld-Rieger Syndrome, Type 1	Polycoria, Aniridia, Hypospadias, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior em...	OMIM:180500
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Abnormal testis morphology, Lymphopenia,...	ORPHA:100
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Lesch-Nyhan Syndrome	Podagra, Abnormality of extrapyramidal motor function, Spasticity, Nephrolithiasis, Dystonia, Nep...	OMIM:300322
Serotonin Syndrome	Mydriasis, Hypertonia, Acute kidney injury, Tremor, Clonus, Rigidity, Myoclonus	ORPHA:43116
Oculodentodigital Dysplasia, Autosomal Recessive	Brachycephaly, Microphthalmia, Microcornea, Persistent pupillary membrane, Frontal bossing, Cataract	OMIM:257850
Hyperuricemia, Hprt-Related	Hyperuricosuria, Nephrolithiasis, Podagra, Renal insufficiency	OMIM:300323
Cowden Syndrome	Abnormality of the kidney, Adenoma sebaceum, Renal cell carcinoma, Enlarged polycystic ovaries, A...	ORPHA:201
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Brachycephaly, Frontal bossing, Craniosynostosis	ORPHA:314575
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Plagiocephaly	OMIM:618603
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
4H Leukodystrophy	Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper motor neuron dysf...	ORPHA:289494
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism	ORPHA:397685
Primary Dystonia, Dyt2 Type	Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener...	ORPHA:99657
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis, Anisocoria	ORPHA:289483
Knobloch Syndrome 1	Iris transillumination defect, Duplicated collecting system, Band keratopathy, Chorioretinal atro...	OMIM:267750
Craniofrontonasal Dysplasia	Brachycephaly, Craniosynostosis, Frontal bossing, Plagiocephaly	ORPHA:1520
Contractural Arachnodactyly, Congenital	Brachycephaly, Frontal bossing, Ectopia lentis, Dolichocephaly, Scaphocephaly	OMIM:121050
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Hallermann-Streiff Syndrome	Brachycephaly, Microphthalmia, Hyperactivity, Frontal bossing, Parietal bossing, Dolichocephaly, ...	OMIM:234100
Autosomal Spastic Paraplegia Type 58	Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba...	ORPHA:397946
Trisomy 13	Microphthalmia, Anophthalmia, Abnormality of the ureter, Hydronephrosis, Displacement of the uret...	ORPHA:3378
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Frontal bossing, Abnormal shape of the occiput, Brachyturricephaly	OMIM:218350
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Tremor, Corneal opacity, Urinary excretion of sialylate...	ORPHA:812
Trisomy 9P	Brachycephaly, Abnormal pupil morphology	ORPHA:236
Hec Syndrome	Developmental cataract, Abnormal pupil morphology	ORPHA:2119
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis...	ORPHA:263479
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Donohue Syndrome	Clitoral hypertrophy, Long penis, Cholestasis, Precocious puberty, Ovarian cyst, Hepatic fibrosis...	OMIM:246200
Botulism	Mydriasis, Diaphragmatic paralysis, Urinary retention, Cerebral palsy	ORPHA:1267
Fucosidosis	Brachycephaly, Corneal opacity	ORPHA:349
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Abnormal renal morphology, Pancreatic lymphangi...	ORPHA:1655
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Increased ...	OMIM:620376
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ...	OMIM:194072
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Ogden Syndrome	Left atrial enlargement, Bicuspid aortic valve, Enlarged kidney, Jaundice, Macrovesicular hepatic...	OMIM:300855
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Congenital Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Precocious puberty in females, Hypertrophic cardio...	ORPHA:528
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly	OMIM:619972
Gracile Bone Dysplasia	Hypocalcemia, Hypoplastic spleen, Ascites, Asplenia	OMIM:602361
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
German Syndrome	Brachycephaly, Dolichocephaly, Dysphagia	ORPHA:2077
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly	ORPHA:352530
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Chorioretinal lacu...	OMIM:152950
White-Sutton Syndrome	Brachycephaly, Astigmatism, Iris coloboma, Hyperactivity, Optic nerve hypoplasia, Tics, Overfrien...	OMIM:616364
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Conjunctival icterus, Hemosiderinuria, Glycosuria, Hemoglobinuria, Proteinur...	ORPHA:447
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly, Self-injurious behavior, Optic nerve hypoplasia	OMIM:618828
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased corneal thickness	ORPHA:293967
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Ventricular septal def...	ORPHA:500095
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Spasticity, Remnants of the hyaloid vascular system, Leukocoria, Cataract	ORPHA:2714
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Babinski sign, Bradykinesia, Apraxia, Juvenile cataract, Resting tremor, Tremor, Sp...	OMIM:300055
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells...	OMIM:228300
Oculocerebrofacial Syndrome, Kaufman Type	Flat occiput, Microcornea, Brachycephaly	ORPHA:2707
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Brachycephaly, Microphthalmia, Coronal craniosynostosis, Frontal bossing, Calvarial skull defect	ORPHA:228390
Purine Nucleoside Phosphorylase Deficiency	Elevated urinary inosine level, Recurrent urinary tract infections, Decreased urinary urate, Trem...	OMIM:613179
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Parkinson Disease 14, Autosomal Recessive	Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus...	OMIM:612953
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Refsum Disease	Microphthalmia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Ataxia, Cataract, Renal insuffic...	ORPHA:773
Inhalational Botulism	Paralysis, Mydriasis, Urinary retention	ORPHA:254504
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog...	ORPHA:228308
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Microphthalmia	ORPHA:93267
Craniosynostosis, Herrmann-Opitz Type	Brachycephaly, Craniosynostosis, Turricephaly	ORPHA:2145
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Abnormality iris morphology, Optic nerve hypoplasia, Coloboma, Megalocornea, Cata...	ORPHA:370959
Toxin-Mediated Infectious Botulism	Paralysis, Mydriasis, Diaphragmatic paralysis, Cerebral palsy	ORPHA:230800
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Microphthalmia, Microcornea, Coloboma, Cataract	OMIM:617306
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly, Bile duct proliferation	OMIM:611561
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Persistent pupillary membrane, Death in infancy, Cataract, Buphthalmos, Peters an...	OMIM:613150
Pontocerebellar Hypoplasia, Type 3	Brachycephaly	OMIM:608027
X-Linked Dystonia-Parkinsonism	Bradykinesia, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with favorable response to d...	ORPHA:53351
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin...	OMIM:615157
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium	OMIM:619339
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Irritability, Pancreatitis, Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirub...	ORPHA:90038
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly	ORPHA:93950
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Brachycephaly, Craniosynostosis, Turricephaly	ORPHA:171839
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Attention deficit hyperactivity disorder, Plagiocephaly	OMIM:618725
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Ascites,...	OMIM:619991
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Frontonasal Dysplasia 3	Brachycephaly, Microphthalmia	OMIM:613456
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Astigmatism, Hypospadias, Vesicoureteral reflux, Chorioretinal coloboma, Peters a...	ORPHA:494344
Marshall Syndrome	Brachycephaly, Frontal bossing, Ectopia lentis, Cataract, Thickened calvaria	ORPHA:560
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	ORPHA:85414
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Cardiomyopathy, Porta...	ORPHA:465508
3-Methylglutaconic Aciduria, Type Viib	Cataract, Zonular cataract	OMIM:616271
Ritscher-Schinzel Syndrome 1	Brachycephaly, Coloboma, Prominent occiput	OMIM:220210
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Bile duct proliferation, Intrauterine gr...	OMIM:611134
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Sclerocornea, Iris coloboma	ORPHA:77298
Xp22.3 Microdeletion Syndrome	Polycystic ovaries, Hypogonadotropic hypogonadism	ORPHA:1643
Acrofrontofacionasal Dysostosis	Brachycephaly, Brushfield spots	ORPHA:1784
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Precocious puberty with Sertoli cell tumor, Abn...	OMIM:175200
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin, Autoimmune hemolytic anemia	ORPHA:90036
Akt2-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:79085
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:616801
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut...	OMIM:238600
Dystonia 13, Torsion, Autosomal Dominant	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim...	OMIM:607671
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Frontal bossing, Turricephaly	ORPHA:93262
Purine Nucleoside Phosphorylase Deficiency	Hypertonia, Spasticity, Decreased urinary urate, Cerebral palsy, Ataxia, Spastic paraparesis, Abn...	ORPHA:760
Distal Deletion 10P	Polycystic ovaries, Cryptorchidism, Hypoplasia of penis	ORPHA:1580
Frontofacionasal Dysplasia	Brachycephaly, Microphthalmia, Microcornea, Hypoplasia of the frontal bone, Cataract, Iris coloboma	OMIM:229400
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,...	OMIM:606159
Cornelia De Lange Syndrome 2	Brachycephaly	OMIM:300590
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog...	ORPHA:79276
Adnp Syndrome	Brachycephaly, Abnormal temper tantrums, Plagiocephaly, Astigmatism, Iris coloboma, Oral-pharynge...	ORPHA:404448
Lig4 Syndrome	Brachycephaly, Astigmatism	OMIM:606593
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas...	OMIM:609057
Axenfeld-Rieger Syndrome, Type 3	Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ...	OMIM:602482
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Cataract 6, Multiple Types	Developmental cataract, Posterior polar cataract	OMIM:116600
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, Oligohydramnios	OMIM:619053
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Spontaneous hemolytic crises, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Stomat...	ORPHA:168577
Autoinflammation With Infantile Enterocolitis	Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Thrombocytopenia, Sp...	OMIM:616050
Grant Syndrome	Brachycephaly, Frontal bossing	ORPHA:2097
Ritscher-Schinzel Syndrome 4	Brachycephaly, Plagiocephaly, Impulsivity, Dysphagia, Motor stereotypy, Aggressive behavior	OMIM:619435
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Pseudodiastrophic Dysplasia	Brachycephaly, Frontal bossing	OMIM:264180
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca	ORPHA:1806
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly, Astigmatism	OMIM:618885
Intellectual Developmental Disorder, Autosomal Dominant 29	Brachycephaly, Astigmatism, Hyperactivity, Frequent temper tantrums, Frontal bossing, Attention d...	OMIM:616078
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Brachycephaly	OMIM:615419
White-Sutton Syndrome	Brachycephaly, Astigmatism, Iris coloboma, Hyperactivity, Compulsive behaviors, Motor stereotypy,...	ORPHA:468678
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:169550
Frontonasal Dysplasia 1	Cataract, Coloboma, Microphthalmia	OMIM:136760
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor...	OMIM:612736
Peroxisome Biogenesis Disorder 5A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Jaundice, Hepatomegaly, Intrahepa...	OMIM:614866
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Death in childhood, Recurrent pneumonia, Cataract, Insulin resistance	OMIM:214150
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Microphthalmia, Spasticity, Keratitis, Ataxia, Conjunctivitis, Catara...	OMIM:278730
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Hydronephrosis, Ataxia, Abnormal py...	OMIM:618060
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Frontal bossing	OMIM:600325
Cataract 16, Multiple Types	Lenticonus, Developmental cataract, Posterior polar cataract	OMIM:613763
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:435651
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Chopra-Amiel-Gordon Syndrome	Attention deficit hyperactivity disorder, Brachycephaly	OMIM:619504
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly, Microcornea, Microphthalmia	OMIM:156610
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul...	ORPHA:3077
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Porphyria, Acute Intermittent	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Respiratory paralysis, Dysuria,...	OMIM:176000
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Flat occiput, Brachycephaly	ORPHA:2511
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating hepatic t...	ORPHA:542323
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Nephrotic ...	OMIM:617713
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Brachycephaly, Frontal bossing, Dolichocephaly, Plagiocephaly	OMIM:619721
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Microphthalmia, Lenz Type	Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Microcornea, Hydronephrosis, ...	ORPHA:568
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, De...	ORPHA:100924
Histiocytoid Cardiomyopathy	Megalocornea, Microphthalmia, Corneal opacity, Congenital aphakia	ORPHA:137675
Kleefstra Syndrome 2	Self-injurious behavior, Plagiocephaly	OMIM:617768
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Microphthalmia, Astigmatism, Ectopia pupillae	OMIM:618727
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Traboulsi Syndrome	Microphthalmia, Spherophakia, Homocystinuria, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow...	OMIM:601552
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Superficial Siderosis	Limb ataxia, Babinski sign, Dysdiadochokinesis, Frequent falls, Anisocoria, Functional abnormalit...	ORPHA:247245
Porphyria Variegata	Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Respiratory paraly...	ORPHA:79473
Carpenter Syndrome 1	Brachycephaly, Lambdoidal craniosynostosis, Microcornea, Coronal craniosynostosis, Opacification ...	OMIM:201000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait...	OMIM:600116
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Tremor, Death in infancy, Dystonia, Choreoathetosis, Horseshoe kidney	OMIM:617664
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular sep...	OMIM:269700
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis,...	OMIM:619802
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Renal...	ORPHA:744
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena...	OMIM:614576
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Attention deficit hyperactivity disorder, Neonatal hyperbilirubinemia	ORPHA:73272
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber	OMIM:616722
Cornelia De Lange Syndrome 5	Brachycephaly	OMIM:300882
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Clitoral hypert...	OMIM:608594
Micro Syndrome	Microphthalmia, Hypoplasia of penis, Microcornea, Spasticity, Retinal coloboma, Hydronephrosis, A...	ORPHA:2510
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentrati...	OMIM:613610
Hypomandibular Faciocranial Dysostosis	Brachycephaly, Death in infancy, Trigonocephaly, Optic disc coloboma, Craniosynostosis	ORPHA:1790
Cherubism	Marcus Gunn pupil	OMIM:118400
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Acute pancreatitis, Cardiomyopathy, Proteinuria, Polycystic ovaries, Hep...	ORPHA:79086
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Babinski sign, Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Microcornea, S...	OMIM:175780
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Polycystic ovaries, Cryptorchidism, Hypergonadotropic hypogonadism	ORPHA:3085
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly, Rieger anomaly, Primary congenital glaucoma, Buphthalmos	ORPHA:521445
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Lujan-Fryns Syndrome	Attention deficit hyperactivity disorder, Brachycephaly	ORPHA:776
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Ascites, Hypertrophic cardiomyopathy	OMIM:614702
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Renal phosphate wasting, Pancytopenia, Cholestasis, Abnorma...	ORPHA:562
Proteus-Like Syndrome	Cataract, Limbal dermoid, Heterochromia iridis, Abnormal pupil morphology	ORPHA:2969
Familial Adenomatous Polyposis 4	Uterine leiomyoma, Ovarian cyst, Renal cyst	OMIM:617100
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Brachycephaly, Plagiocephaly	OMIM:618862
Nance-Horan Syndrome	Microcornea, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Adenylosuccinase Deficiency	Brachycephaly, Hyperactivity, Inappropriate laughter, Self-mutilation, Aggressive behavior	OMIM:103050
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism	OMIM:619738
Seckel Syndrome 2	Microphthalmia, Ectopic kidney, Hypospadias	OMIM:606744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Coloboma, Microphthalmia, Abnormally large globe	OMIM:615249
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Neonatal hyperbilirubinemia	OMIM:609727
Martsolf Syndrome 1	Cataract, Microphthalmia, Developmental cataract, Brachycephaly	OMIM:212720
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept...	OMIM:616897
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly, Astigmatism, Recurrent hand flapping, Attention deficit hyperactivity disorder, Ag...	OMIM:619680
Galloway-Mowat Syndrome 1	Microphthalmia, Spasticity, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic...	OMIM:251300
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Schwannomatosis, Vestibular	Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opacities, Cataract, Co...	OMIM:101000
Atypical Werner Syndrome	Hyperinsulinemia, Renal neoplasm, Glycosuria, Developmental cataract, Hyperglycemia, Type II diab...	ORPHA:79474
Posterior Urethral Valve	Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no...	ORPHA:93110
Isolated Thyroid-Stimulating Hormone Deficiency	Depression, Abnormal circulating thyroglobulin concentration, Prolonged neonatal jaundice, Neonat...	ORPHA:90674
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract	ORPHA:1010
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Brachycephaly, Dysphagia, Repetitive compulsive behavior, Motor stereotypy, Bruxism	OMIM:300260
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Obsessive-compulsive trait, Abnormal temper tantrums, Brachycephaly, Plagiocephaly, Impulsivity, ...	ORPHA:500055
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Right atrial enlargement	OMIM:614473
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Torticollis, Nephritis, Renal dysplasia, Pyelonephritis	OMIM:314300
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Distal Deletion 10Q	Brachycephaly, Astigmatism, Frontal bossing, Attention deficit hyperactivity disorder, Craniosyno...	ORPHA:96148
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th...	OMIM:614527
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Sclerocornea, Lens coloboma, Catara...	ORPHA:42775
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Attention deficit hyperactivity disorder, Microphthalmia, Brachycephaly, Compulsive behaviors	ORPHA:404440
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Retinal coloboma, Iris coloboma	ORPHA:2328
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Abnormal renal morphology, Optic nerve hypoplasia, Vesicoureteral re...	OMIM:609053
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Frontal bossing	OMIM:615539
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Brachycephaly, Frontal bossing, Microphthalmia, Iris coloboma	ORPHA:1236
Joubert Syndrome 37	Microphthalmia, Hydronephrosis, Micropenis, Oculomotor apraxia	OMIM:619185
Parkinson Disease 17	Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	OMIM:266500
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:435660
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Microcornea, Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Iris ...	ORPHA:3301
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascite...	ORPHA:36412
Dominant Beta-Thalassemia	Irritability, Cirrhosis, Jaundice, Abnormality of iron homeostasis, Hypochromic microcytic anemia...	ORPHA:231226
Neurofaciodigitorenal Syndrome	Brachycephaly, Plagiocephaly, Corneal dystrophy	ORPHA:2673
Ataxia With Vitamin E Deficiency	Hypertonia, Dysdiadochokinesis, Tremor, Hemiplegia/hemiparesis, Dystonia, Ataxia, Abnormal pyrami...	ORPHA:96
Recombinant Chromosome 8 Syndrome	Brachycephaly	OMIM:179613
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Brachycephaly, Trigonocephaly, Attention deficit hyperactivity disorder, Sagittal craniosynostosi...	ORPHA:459061
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Coloboma, Corneal opacity, Conjunctival hyperemia, Cata...	ORPHA:2399
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Decreased response to growth hormone stimulation test, Recurrent urinary tract i...	OMIM:615873
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Urinary urgency, Spastic paraplegia, Intention tremor, Head titubation, D...	OMIM:312080
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto...	ORPHA:96125
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Transposition of the great arteries, Hypospadias, Supernumerary ni...	OMIM:312870
Fumarase Deficiency	Intrahepatic cholestasis, Hyperbilirubinemia, Ascites, Polycythemia, Hepatic failure	OMIM:606812
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Bifid scrotum, Bicuspid aortic valve, Abnormality of the kidney, Hypos...	ORPHA:1772
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Craniodigital-Intellectual Disability Syndrome	Brachycephaly	ORPHA:1514
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow...	ORPHA:549
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly...	ORPHA:540
Walker-Warburg Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia, Microcornea, Corneal opacity, Cataract, Chorio...	ORPHA:899
Dystonia-Deafness Syndrome 1	Cataract, Generalized dystonia, Leg dystonia, Oculogyric crisis	OMIM:607371
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Astigmatism, Hyposthenur...	OMIM:248250
Baraitser-Winter Syndrome 2	Coloboma, Microphthalmia	OMIM:614583
Cree Mental Retardation Syndrome	Brachycephaly, Coloboma	OMIM:606851
Classic Phenylketonuria	Hypertonia, Paraplegia, Tremor, Eczematoid dermatitis, Cataract, Hemiplegia	ORPHA:79254
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Coloboma, Corneal opacity, Ectopia pupillae, Lens subluxation	ORPHA:85167
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Hepatomegaly, Emotional lability, Splenomegaly, Decreased serum zinc	OMIM:201100
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Brachycephaly	ORPHA:53271
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res...	OMIM:606693
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Williams-Beuren Region Duplication Syndrome	Attention deficit hyperactivity disorder, Brachycephaly	OMIM:609757
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Polycystic liver disease, Bile duct proliferation, Conjugated hyperbilirubinemia, Hepat...	OMIM:208500
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le...	ORPHA:57777
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Systemic Lupus Erythematosus	Malar rash, Arthritis, Pericarditis, Nephritis, Lupus nephritis	OMIM:152700
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Wolfram Syndrome 1	Hydroureter, Neurogenic bladder, Tremor, Hydronephrosis, Ataxia, Cataract, Diabetes mellitus	OMIM:222300
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Baraitser-Winter Syndrome 1	Microphthalmia, Micropenis, Chorioretinal coloboma, Iris coloboma	OMIM:243310
Fixed Subaortic Stenosis	Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ...	ORPHA:3092
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the liver, Hyperbilirubinemia, Thrombocytopenia, Ascites	ORPHA:464321
Matthew-Wood Syndrome	Microphthalmia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple...	ORPHA:2470
Hyperphosphatasia-Intellectual Disability Syndrome	Brachycephaly, Abnormal parietal bone morphology, Shallow anterior chamber, Plagiocephaly	ORPHA:247262
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly	OMIM:620240
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Nephropathy, Focal segmental glomerulosclerosis, Gait ataxia, Nephrotic syndrome,...	OMIM:254900
Acro-Renal-Ocular Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Optic disc hypoplasia, Microcornea, Vesicoureteral refl...	ORPHA:959
9Q33.3Q34.11 Microdeletion Syndrome	Brachycephaly, Plagiocephaly, Astigmatism, Dysphagia	ORPHA:495818
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Optic nerve hypoplasia, Anisocoria, Cataract, Abnormal pupil shape	ORPHA:45358
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Recurrent otitis media, Corneal opacity, Ectopia pupillae, Optic disc coloboma, L...	OMIM:608940
Miller Fisher Syndrome	Tetraparesis, Mydriasis, Ataxia, Anisocoria	ORPHA:98919
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Recurrent otitis media, Unilateral renal agenesis, Appendicular spasticity, Renal...	OMIM:618494
Monosomy 18P	Brachycephaly, Microphthalmia	ORPHA:1598
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus	ORPHA:542306
Beta-Thalassemia Major	Anisopoikilocytosis, Irritability, Cirrhosis, Jaundice, Abnormality of iron homeostasis, Hepatome...	ORPHA:231214
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Hepatomegaly, Anemia, Generalized lymphadenopathy, Elev...	ORPHA:829
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria	OMIM:619649
Cerebrooculonasal Syndrome	Brachycephaly, Proboscis, Anophthalmia, Optic nerve hypoplasia, Frontal bossing, Craniosynostosis...	OMIM:605627
Subaortic Stenosis-Short Stature Syndrome	Short stature, Biliary tract abnormality, Microphthalmia	ORPHA:3191
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios	ORPHA:261272
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Brachycephaly, Iris coloboma, Pterygium	ORPHA:371428
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Coloboma, Microphthalmia	OMIM:167730
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Urinary incontinence, Tremor, Iris atrophy, Urinary urgency, Rigidit...	OMIM:146500
Hypermanganesemia With Dystonia 2	Bradykinesia, Babinski sign, Oromandibular dystonia, Generalized dystonia, Scissor gait, Spastici...	OMIM:617013
Cerebrooculonasal Syndrome	Brachycephaly, Anophthalmia	ORPHA:66625
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Limbal dermoid	OMIM:613001
Facial Spasm	Anisocoria	OMIM:134300
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb hypertonia, Fasciculations, Tremor, Exaggerated startle response, Hydronephrosis, Cataract	OMIM:620327
Non-Functioning Paraganglioma	Hematuria, Elevated urinary epinephrine level, Tremor, Elevated urinary norepinephrine level, Voc...	ORPHA:94080
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Hepatomegaly, Splenomegaly	OMIM:252900
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cataract, Brachycephaly, Megalocornea	OMIM:601353
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Microphthalmia	OMIM:602501
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Irritability, Agitation, Jaundice, Elevated circulating hepatic transaminase concentration, Restr...	OMIM:619475
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature	OMIM:300863
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos, Frontal bossing, Brachyturricephaly	OMIM:607597
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Spasticity, Microcornea, Hydronephrosis, Recurrent pneumonia, Cataract	OMIM:616449
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Lessel-Kreienkamp Syndrome	Plagiocephaly, Frontal bossing, Attention deficit hyperactivity disorder, Scaphocephaly, Aggressi...	OMIM:619149
Trichothiodystrophy 3, Photosensitive	Cataract, Increased circulating IgA level, Microphthalmia, Developmental cataract	OMIM:616395
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin concentration, Prolonged neonatal jaundice, Neonatal hyperbil...	ORPHA:90673
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Micropenis, Cataract, Abnormality of the urinary system, Iris c...	OMIM:244300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Conjunctivitis	OMIM:242150
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Hydronephrosis, Splenomegaly,...	OMIM:235255
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Microphthalmia, Edema, Umbilical hernia	ORPHA:2505
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hepatic steatosis, Polycystic ovaries	OMIM:604367
Apert Syndrome	Corneal erosion, Cloverleaf skull, Acrobrachycephaly, Brachyturricephaly, Frontal bossing	ORPHA:87
3P25.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Microphthalmia, Brachycephaly, Motor stereotypy	ORPHA:435638
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Microphthalmia	OMIM:300887
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr...	ORPHA:99750
Coloboma, Ocular, Autosomal Recessive	Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Oligoarticular Juvenile Idiopathic Arthritis	Increased circulating interferon-gamma concentration, Band keratopathy, Abnormal circulating inte...	ORPHA:85410
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agen...	OMIM:617914
Autosomal Dominant Spastic Paraplegia Type 9A	Spastic gait, Babinski sign, Urinary incontinence, Spastic dysarthria, Pollakisuria, Tremor, Urin...	ORPHA:447753
Momo Syndrome	Brachycephaly, Frontal bossing, Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Adams-Oliver Syndrome 2	Microphthalmia, Developmental cataract, Limb hypertonia	OMIM:614219
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, Corneal opacity, Eczematoid dermatitis, Iris hypopigmentatio...	ORPHA:284160
Autosomal Dominant Optic Atrophy And Cataract	Posterior subcapsular cataract, Posterior cortical cataract, Anterior subcapsular cataract, Catar...	ORPHA:67036
19P13.12 Microdeletion Syndrome	Hyperactivity, Self-injurious behavior, Brachycephaly, Craniosynostosis	ORPHA:254346
Menkes Disease	Brachycephaly, Death in childhood	OMIM:309400
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly	OMIM:218000
Intestinal Botulism	Mydriasis, Death in infancy	ORPHA:178481
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Hsd10 Disease, Infantile Type	Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urin...	ORPHA:391428
Hoxha-Aliu Syndrome	Brachycephaly, Astigmatism	OMIM:620662
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Abnormality of the ovary, Decreased testicular size, Biliary tract abn...	OMIM:209900
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly	OMIM:619910
Momo Syndrome	Brachycephaly, Frontal bossing, Retinal coloboma	OMIM:157980
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Increased total iron binding capacity, Jaundice, Hepatomegaly, Elevated circulating hepatic trans...	ORPHA:309854
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Aniridia, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary n...	ORPHA:29072
Joubert Syndrome 2	Microphthalmia, Nephronophthisis, Oculomotor apraxia, Renal cyst, Ataxia, Chorioretinal coloboma,...	OMIM:608091
Sitosterolemia 1	Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic hemolytic anemi...	OMIM:210250
X-Linked Intellectual Disability Due To Gria3 Mutations	Brachycephaly, Self-mutilation, Aggressive behavior	ORPHA:364028
Wieacker-Wolff Syndrome, Female-Restricted	Brachycephaly, Dysphagia	OMIM:301041
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Attention deficit hyperactivity disorder, Brachycephaly, Motor stereotypy	OMIM:620073
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	3-Methylglutaconic aciduria, Death in childhood, Hypospadias, Tremor, Intention tremor, Neonatal ...	OMIM:614052
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Trichinellosis	Babinski sign, Skin rash, Anisocoria, Conjunctival hyperemia, Abnormal uvea morphology, Hemipares...	ORPHA:863
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaconic aciduria, Neonatal hypoglycemia, Hypertonia, Tremor, Clonus, Death in infancy,...	OMIM:617248
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Brachycephaly	OMIM:618142
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Coffin-Siris Syndrome 6	Plagiocephaly, Frontal bossing, Motor stereotypy, Attention deficit hyperactivity disorder, Tics	OMIM:617808
Fetal Trimethadione Syndrome	Brachycephaly	ORPHA:1913
Schimmelpenning-Feuerstein-Mims Syndrome	Cranial asymmetry, Coloboma, Corneal opacity	OMIM:163200
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia...	ORPHA:84064
Achondrogenesis, Type Ii	Brachycephaly, Frontal bossing, Stillbirth	OMIM:200610
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia, Microphthalmia, Microcornea, Erythroderma, Hydronephrosis, Cataract	ORPHA:35173
7Q11.23 Microduplication Syndrome	Brachycephaly, Astigmatism, Craniosynostosis, Hyperactivity, Polyphagia, Dolichocephaly, Collecti...	ORPHA:96121
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Cataract, Astigmatism, Brachycephaly	OMIM:300968
Pediatric Systemic Lupus Erythematosus	Hematuria, Abnormality of the urinary system, Arthritis, Skin rash, Discoid lupus rash, Malar ras...	ORPHA:93552
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Cataract, Self-injurious behavior, Plagiocephaly, Aggressive behavior	OMIM:619833
Hydrolethalus	Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia	ORPHA:2189
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Coenzyme Q10 Deficiency, Primary, 1	Glomerular sclerosis, Recurrent myoglobinuria, Right hemiplegia, Tremor, Focal segmental glomerul...	OMIM:607426
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Thrombocytopenia, Hepatosplenomegaly, Left ventricular...	ORPHA:79330
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Microphthalmia, Prominent occiput, Biparietal narrowing, Frontal bossing, Iris col...	ORPHA:2612
Acute Zonal Occult Outer Retinopathy	Marcus Gunn pupil	ORPHA:284454
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Mirage Syndrome	Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Lymphopenia	OMIM:617053
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Frequent falls, Gait ataxia, Head tremor, Anisocoria, Vocal cord paresis, ...	ORPHA:99949
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Plagiocephaly, Aniridia, Anophthalmia, Corneal dystrophy, Megalocornea, Dolichocephaly	ORPHA:1101
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Limb dystonia, A...	ORPHA:352649
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentrat...	OMIM:613658
Combined Oxidative Phosphorylation Deficiency 18	Methylmalonic aciduria, Tremor, Dysmetria	OMIM:615578
Frontonasal Dysplasia 2	Brachycephaly, Microphthalmia, Parietal foramina, Anterior plagiocephaly, Craniosynostosis, Calva...	OMIM:613451
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Retinal coloboma, Renal agenesis, R...	OMIM:607323
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Sclerocornea, Cataract, Iris coloboma	ORPHA:251038
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Moebius Syndrome	Microphthalmia, Dysdiadochokinesis, Poor coordination, Clumsiness, Micropenis	OMIM:157900
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Tetanus	Hypertonia, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Tremor, Ri...	ORPHA:3299
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1438
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Scrub Typhus	Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Complement Factor I Deficiency	Recurrent otitis media, Recurrent urinary tract infections, Recurrent sinusitis, Septic arthritis...	OMIM:610984
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Xanthinuria, Type I	Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis	OMIM:278300
Oculofaciocardiodental Syndrome	Microphthalmia, Microcornea, Ectopia lentis, Cataract, Iris coloboma	ORPHA:2712
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Anisocoria, Renal hypoplasia, Developmental cataract, Cataract, Renal ...	OMIM:181270
Heart Defects, Congenital, And Other Congenital Anomalies	Glycosuria, Diabetes mellitus, Ureteral duplication, Hyperglycemia	OMIM:600001
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Aymé-Gripp Syndrome	Brachycephaly, Plagiocephaly, Megalocornea, Developmental cataract, Cataract, Craniosynostosis	ORPHA:1272
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Congenital Disorder Of Deglycosylation 1	Brachycephaly, Oral-pharyngeal dysphagia, Corneal ulceration, Corneal opacity, Impaired oral bolu...	OMIM:615273
Congenital Disorder Of Glycosylation, Type Il	Brachycephaly, Frontal bossing	OMIM:608776
Multicentric Osteolysis, Nodulosis, And Arthropathy	Brachycephaly, Frontal bossing, Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flat occiput, Brachycephaly	OMIM:617452
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Hyperprostaglandinuria, Hypercalciuria, Abnormal renal tubular resorption...	ORPHA:73224
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Zonular cataract	OMIM:268400
Gorlin Syndrome	Cataract, Frontal bossing, Brachycephaly, Iris coloboma	ORPHA:377
Acrofrontofacionasal Dysostosis 1	Brachycephaly, Microphthalmia, Iris atrophy	OMIM:201180
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia, Cranial asymmetry	ORPHA:137634
Coronary Arterial Fistula	Bicuspid aortic valve, Atrial septal defect, Bacterial endocarditis, Patent foramen ovale, Aortic...	ORPHA:2041
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Incre...	ORPHA:90795
Cdags Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Parietal foramina, Coronal craniosynostosis, Frontal ...	OMIM:603116
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transam...	OMIM:617591
Heme Oxygenase 1 Deficiency	Chemosis, Nephritis, Hematuria, Proteinuria	OMIM:614034
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature	OMIM:614833
Achalasia-Addisonianism-Alacrima Syndrome	Babinski sign, Ataxia, Anisocoria	OMIM:231550
Myoclonic-Astatic Epilepsy	Abnormal pyramidal sign, Microphthalmia, Tremor, Ataxia	ORPHA:1942
Alternating Hemiplegia Of Childhood	Paroxysmal dyskinesia, Mydriasis, Oculomotor apraxia, Chorea, Tremor, Rigidity, Dystonia, Ataxia,...	ORPHA:2131
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Death in childhood, Brachyturricephaly, Dysphagia, Brushfield spots, Cataract, Opac...	OMIM:214100
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic trans...	ORPHA:781
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Coloboma, Optic nerve aplasia,...	OMIM:206900
Cooper-Jabs Syndrome	Brachycephaly, Frontal bossing	ORPHA:1488
Solitary Median Maxillary Central Incisor	Cyclopia, Microphthalmia, Anophthalmia, Coloboma	OMIM:147250
Hyperparathyroidism, Neonatal Severe	Polydipsia, Calcinosis, Hepatomegaly, Anemia, Hypercalcemia, Splenomegaly, Hypophosphatemia	OMIM:239200
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal temper tantrums, Plagiocephaly, Astigmatism, Frontal bossing, Dolichocephaly, Motor ster...	ORPHA:457279
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Frontal bossing	OMIM:608688
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Cerebellar Ataxia-Hypogonadism Syndrome	Brachycephaly	ORPHA:1173
Holoprosencephaly-Craniosynostosis Syndrome	Brachycephaly, Craniosynostosis, Plagiocephaly	ORPHA:2163
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis, Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Peritonitis, Megacystis, P...	OMIM:619351
Kleefstra Syndrome 1	Brachycephaly, Compulsive behaviors, Motor stereotypy, Aggressive behavior	OMIM:610253
Larsen-Like Syndrome	Brachycephaly, Frontal bossing	OMIM:608545
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Gait ataxia, Action tremor, Head titubation, Ataxia, Babinski sign, Hypertonia, Tre...	ORPHA:99027
Joubert Syndrome 14	Microphthalmia, Ataxia, Renal cyst, Coloboma	OMIM:614424
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Flat occiput, Brachycephaly	ORPHA:505237
Bickerstaff Brainstem Encephalitis	Mydriasis, Babinski sign, Pneumonia, Tetraplegia, Anisocoria, Ataxia, Facial paralysis, Abnormal ...	ORPHA:79138
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ...	OMIM:612541
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Fasting hypoglycemia, Chorea, Tremor, Athetosis, Poor motor coordination, Limb...	ORPHA:25
Antley-Bixler Syndrome	Brachycephaly, Craniosynostosis, Turricephaly, Frontal bossing	ORPHA:83
Cocaine Intoxication	Mydriasis, Acute kidney injury, Hematuria, Colitis, Tremor, Involuntary movements, Proteinuria, T...	ORPHA:90068
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Parkinson Disease, Late-Onset	Bradykinesia, Resting tremor, Tremor, Urinary urgency, Rigidity, Dystonia, Parkinsonism	OMIM:168600
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
Neuroocular Syndrome	Microphthalmia, Microcornea, Stellate iris, Cataract, Remnants of the hyaloid vascular system, Hy...	OMIM:619539
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Neonatal death	OMIM:619859
Alpha-Mannosidosis, Infantile Form	Brachycephaly, Cranial hyperostosis, Astigmatism, Corneal opacity, Cataract, Craniosynostosis, Th...	ORPHA:309282
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Gapo Syndrome	Plagiocephaly, Keratoconus, Megalocornea, Frontal bossing, Shallow anterior chamber	OMIM:230740
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav...	ORPHA:240071
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, U...	ORPHA:79277
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Polycystic ovaries, Elevated circulating hepatic transaminase concentration, Hypergonadotropic hy...	OMIM:268020
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Renal dysplasia, Retinal coloboma, Cataract	OMIM:618571
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Intrauterine growth retardation, Microphthalmia, Rhizomelia, Short stature	ORPHA:163966
Chromosome 13Q33-Q34 Deletion Syndrome	Brachycephaly, Microphthalmia, Hyperactivity, Trigonocephaly, Aggressive behavior	OMIM:619148
Pde4D Haploinsufficiency Syndrome	Brachycephaly, Frontal bossing, Thickened calvaria	ORPHA:439822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Death in childhood, Optic nerve hypoplasia, Remnants of the hyaloid vascular syst...	OMIM:614643
De Barsy Syndrome	Cataract, Corneal opacity, Brachycephaly	ORPHA:2962
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Infant Botulism	Chronic otitis media, Mydriasis, Cerebral palsy, Keratoconjunctivitis sicca	ORPHA:178478
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Gillessen-Kaesbach-Nishimura Syndrome	Brachycephaly	OMIM:263210
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Chromosome 2P16.1-P15 Deletion Syndrome	Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Brachycephaly	OMIM:612513
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Den Hoed-De Boer-Voisin Syndrome	Brachycephaly, Agitation, Death in adolescence, Stereotypical hand wringing, Dysphagia, Motor ste...	OMIM:619229
Degcags Syndrome	Hepatomegaly, Anemia, Iron deficiency anemia, Oral-pharyngeal dysphagia, Pancytopenia, Hyperbilir...	OMIM:619488
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Absent gallbladder	ORPHA:163979
Warburg-Cinotti Syndrome	Limbal stem cell deficiency, Corneal neovascularization, Symblepharon, Decreased corneal thickness	OMIM:618175
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Beck-Fahrner Syndrome	Attention deficit hyperactivity disorder, Brachycephaly	OMIM:618798
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Ascites, Prolonged neonatal ja...	OMIM:619534
Garg-Mishra Progeroid Syndrome	Short stature, Microvesicular hepatic steatosis, Microphthalmia, Postnatal growth retardation	OMIM:620601
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:608013
Phosphoribosylpyrophosphate Synthetase Superactivity	Death in childhood, Hypospadias, Renal insufficiency, Uric acid nephrolithiasis, Urolithiasis, At...	OMIM:300661
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Spasticity	ORPHA:77299
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Dolichocephaly	ORPHA:2633
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Retinitis Pigmentosa	Keratoconus, Posterior subcapsular cataract	ORPHA:791
19P13.13 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Dolichocephaly, Brachycephaly	ORPHA:357001
Joubert Syndrome With Renal Defect	Oculomotor apraxia, Renal insufficiency, Tremor, Ataxia, Nephropathy, Iris coloboma	ORPHA:220497
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Corneal neovascularization, Corneal ulceration, Limbal stem cell defi...	ORPHA:2363
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo...	ORPHA:308552
Coats Disease	Leukocoria	OMIM:300216
Dystonia 1, Torsion, Autosomal Dominant	Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia,...	OMIM:128100
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Pelvic kidney, Vesicoureteral reflux, Anisocoria, Hydronephrosis, Micropenis	OMIM:618653
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Microcornea, Death in infancy, Decreased circulating IgG level, Cataract, Keratoc...	OMIM:601675
Congenital Disorder Of Glycosylation, Type Iia	Brachycephaly, Stereotypical hand wringing, Motor stereotypy, Self-mutilation, Aggressive behavior	OMIM:212066
Galloway-Mowat Syndrome 3	Microphthalmia, Glomerular sclerosis, Spasticity, Nephrotic syndrome, Diffuse mesangial sclerosis...	OMIM:617729
Cat Eye Syndrome	Microphthalmia, Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Chorioretinal coloboma, Ho...	OMIM:115470
Gapo Syndrome	Keratoconus, Frontal bossing	ORPHA:2067
Adams-Oliver Syndrome	Microphthalmia, Cirrhosis, Encephalocele, Ascites, Portal hypertension, Congenital hepatic fibrosis	ORPHA:974
Global Developmental Delay With Or Without Impaired Intellectual Development	Frontal bossing, Plagiocephaly	OMIM:618330
X-Linked Intellectual Disability, Wilson Type	Brachycephaly	ORPHA:85290
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:276621
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Tremor, Ataxia, Type II diabetes mellitus, Cataract	ORPHA:79095
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Mitral valve prolapse, Hypogonadis...	ORPHA:251066
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Mosaic Variegated Aneuploidy Syndrome 1	Cataract, Brachycephaly	OMIM:257300
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Brachycephaly, Craniosynostosis, Developmental glaucoma, Frontal bossing	OMIM:245600
Marfan Syndrome	Astigmatism, Microspherophakia, Hypoplasia of the iris, Ectopia lentis, Dolichocephaly, Cataract	OMIM:154700
Kaufman Oculocerebrofacial Syndrome	Brachycephaly, Microcornea, Astigmatism	OMIM:244450
Charcot-Marie-Tooth Disease Type 1E	Abnormal pupil morphology, Anisocoria	ORPHA:90658
Revesz Syndrome	Hypertonia, Megalocornea, Ataxia, Poor coordination, Leukocoria	OMIM:268130
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly, Aggressive behavior	OMIM:619244
Yellow Fever	Jaundice, Hyperbilirubinemia, Acute pancreatitis, Elevated circulating creatine kinase concentrat...	ORPHA:99829
Summitt Syndrome	Plagiocephaly, Craniosynostosis	ORPHA:3210
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovaries, Hepati...	ORPHA:280365
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Microphthalmia	OMIM:616538
Costello Syndrome	Keratoconus	ORPHA:3071
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Multiple bladder diverticula, Proteinuria, Recurrent otitis media	ORPHA:2728
Dystonia 2, Torsion, Autosomal Recessive	Torsion dystonia, Tremor, Blepharospasm, Torticollis	OMIM:224500
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Hyperprostaglandinuria, Hypercalciuria, Impaired renal c...	ORPHA:89938
Craniolenticulosutural Dysplasia	Punctate cataract, Posterior Y-sutural cataract	OMIM:607812
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Attention deficit hyperactivity disorder, Brachycephaly, Ectopia pupillae	OMIM:618223
Hallermann-Streiff Syndrome	Brachycephaly, Frontal bossing, Microphthalmia, Developmental cataract	ORPHA:2108
Cockayne Syndrome	Microphthalmia, Urinary incontinence, Action tremor, Ataxia, Hypertonia, Band keratopathy, Develo...	ORPHA:191
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, Macroorchidism	ORPHA:284180
ERI1-related disease	Trigonocephaly, Frontal bossing, Brachycephaly	OMIM:608739
Down Syndrome	Cataract, Keratoconus, Brachycephaly	ORPHA:870
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	OMIM:610717
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Urinary incontinence, Splenomegaly	OMIM:232300
Frank-Ter Haar Syndrome	Brachycephaly, Developmental glaucoma, Megalocornea, Flat occiput, Buphthalmos	OMIM:249420
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract	OMIM:201470
Familial Exudative Vitreoretinopathy	Cataract, Microphthalmia	ORPHA:891
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo...	ORPHA:1457
Al Kaissi Syndrome	Brachycephaly	OMIM:617694
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Ovarian cyst	OMIM:610475
Mosaic Trisomy 9	Microphthalmia, Hydrops fetalis, Polyhydramnios, Abnormal liver lobulation, Spina bifida, Aspleni...	ORPHA:99776
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Noonan Syndrome 13	Plagiocephaly, Head-banging, Attention deficit hyperactivity disorder, Blue irides, Aggressive be...	OMIM:619087
2P15P16.1 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Brachycephaly, Dysphagia	ORPHA:261349
Acrodysostosis 1 With Or Without Hormone Resistance	Brachycephaly, Calvarial hyperostosis, Blue irides	OMIM:101800
Scheie Syndrome	Hepatomegaly, Splenomegaly	ORPHA:93474
Kleefstra Syndrome	Brachycephaly, Motor stereotypy, Self-injurious behavior, Self-mutilation, Aggressive behavior	ORPHA:261494
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Frontal bossing, Biparietal narrowing	ORPHA:1292
49,Xxxxy Syndrome	Attention deficit hyperactivity disorder, Brachycephaly, Overfriendliness	ORPHA:96264
9P13 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Bruxism, Brachycephaly	ORPHA:324313
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton...	OMIM:249100
Band Heterotopia	Plagiocephaly	OMIM:600348
Aceruloplasminemia	Limb ataxia, Torticollis, Chorea, Tremor, Blepharospasm, Craniofacial dystonia, Gait ataxia, Invo...	ORPHA:48818
1Q21.1 Microdeletion Syndrome	Microphthalmia, Vesicoureteral reflux, Hydronephrosis, Cataract, Iris coloboma	ORPHA:250989
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Spasticity, Ataxia, Anisocoria	OMIM:615510
Hypoplasminogenemia	Cervicitis, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of the ovary	ORPHA:722
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Myoclonus, Ocular albinism	ORPHA:1352
Fanconi Anemia, Complementation Group R	Pelvic kidney, Microphthalmia	OMIM:617244
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia, Cataract, Iris coloboma	ORPHA:2250
3Q29 Microdeletion Syndrome	Cataract, Microphthalmia, Horseshoe kidney, Hypospadias	ORPHA:65286
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Abnormal heart morphology, Ovarian cyst, Proteinuria, Hepatic cysts,...	OMIM:311200
Neurogenic Arthrogryposis Multiplex Congenita	Plagiocephaly, Scaphocephaly	ORPHA:1143
Focal Dermal Hypoplasia	Microphthalmia, Renal hypoplasia/aplasia, Corneal opacity, Hypoplasia of the iris, Ectopia lentis...	ORPHA:2092
Arachnoid Cyst	Mydriasis, Urinary incontinence, Urinary bladder sphincter dysfunction, Paraparesis, Hemiparesis,...	ORPHA:2356
Cornelia De Lange Syndrome 1	Brachycephaly, Astigmatism, Microcornea, Optic disc coloboma, Self-injurious behavior	OMIM:122470
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly	ORPHA:94066
Acrofrontofacionasal Dysostosis 2	Brachycephaly	OMIM:239710
Cockayne Syndrome Type 3	Microphthalmia, Hydroureter, Unilateral renal agenesis, Corneal ulceration, Microcornea, Neurogen...	ORPHA:90324
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Bartter Syndrome, Type 2, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Abnormally large globe, R...	OMIM:241200
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa...	OMIM:137440
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Skin rash, Chorioretinal...	ORPHA:91500
Sponastrime Dysplasia	Cataract, Frontal bossing, Congenital aphakia, Microcoria	ORPHA:93357
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Brachycephaly, Lambdoidal craniosynostosis	OMIM:615398
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Ventricular septal def...	OMIM:222470
Trichohepatoneurodevelopmental Syndrome	Brachycephaly, Plagiocephaly, Astigmatism	OMIM:618268
Trisomy 20P	Brachycephaly, Frontal bossing, Dolichocephaly, Plagiocephaly	ORPHA:261318
Raine Syndrome	Brachycephaly, Plagiocephaly, Brachyturricephaly, Death in infancy, Neonatal death	OMIM:259775
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Ritscher-Schinzel Syndrome 3	Microphthalmia, Chorioretinal coloboma, Death in infancy	OMIM:619135
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Babinski sign, Neurogenic bladder, Tremor, Spasticity, Spastic paraplegia, Ataxia, Dysmetria	OMIM:618527
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Truncus arteriosus, Hypop...	OMIM:188400
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Coronal craniosynostosis, Frontal bossing, Lambdoidal craniosynostosis, Brachycephaly	OMIM:207410
48,Xxxy Syndrome	Attention deficit hyperactivity disorder, Brachycephaly	ORPHA:96263
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Microcornea, Spasticity, Hydronephrosis, Developmental cataract, Rec...	ORPHA:464738
Treacher-Collins Syndrome	Brachycephaly, Microphthalmia, Frontal bossing, Cataract, Iris coloboma	ORPHA:861
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia, Polyhydramnios	OMIM:616920
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Meckel Syndrome 14	Occipital encephalocele, Microphthalmia, Increased nuchal translucency, Hepatic fibrosis, Oligohy...	OMIM:619879
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Brachycephaly	ORPHA:562528
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Brachycephaly, Posterior plagiocephaly, Hair-pulling, Nail-biting, Optic nerve hypoplasia, Polyph...	OMIM:620330
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Microcornea, Retinal coloboma, Hydronephrosis, Iris coloboma	ORPHA:2839
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid...	OMIM:230000
Oculodentodigital Dysplasia	Microphthalmia, Neurogenic bladder, Microcornea, Spasticity, Paraparesis, Ataxia, Cataract, Tetra...	OMIM:164200
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Splenomegaly, Elevated circulating C-reactive protein concentration, Hepatomegaly	OMIM:612852
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Trigonocephaly, Craniosynostosis, Plagiocephaly, Decreased calvarial ossification	OMIM:618265
Malan Overgrowth Syndrome	Frontal bossing, Plagiocephaly, Optic disc hypoplasia, Scaphocephaly	ORPHA:420179
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Brachycephaly, Plagiocephaly, Hyperactivity, Compulsive behaviors, Frequent temper tantrums, Fron...	OMIM:619512
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Microphthalmia, Chorioretinal coloboma, Iris coloboma	ORPHA:268249
Lig4 Syndrome	Brachycephaly, Biparietal narrowing	ORPHA:99812
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia, Leukocoria	ORPHA:1556
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Trisomy 18	Hypertonia, Microphthalmia, Cyclopia, Microcornea, Abnormality of the upper urinary tract, Hydron...	ORPHA:3380
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Bardet-Biedl Syndrome	Hydrometrocolpos, Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of ...	ORPHA:110
Cockayne Syndrome B	Microphthalmia, Death in childhood, Renal insufficiency, Microcornea, Tremor, Hypoplasia of the i...	OMIM:133540
Pentasomy X	Plagiocephaly	ORPHA:11
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly	OMIM:614563
Nail-Patella Syndrome	Abnormality of the kidney, Hematuria, Arthritis, Nephrotic syndrome, Thickened glomerular basemen...	ORPHA:2614
Fetal Alcohol Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1915
Ayme-Gripp Syndrome	Craniofacial asymmetry, Developmental cataract, Brachycephaly	OMIM:601088
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Brachycephaly, Craniosynostosis, Astigmatism	ORPHA:369837
Proboscis Lateralis	Microphthalmia, Cyclopia, Unilateral renal agenesis, Anophthalmia, Optic nerve hypoplasia, Microc...	ORPHA:141099
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
X-Linked Intellectual Disability, Nascimento Type	Aggressive behavior, Compulsive behaviors, Neonatal hyperbilirubinemia, Neutropenia	ORPHA:163956
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Microphthalmia, Hydronephrosis, Erythroderma	OMIM:302960
Cowden Syndrome 1	Varicocele, Ovarian cyst, Lymphopenia, Goiter, Ovarian carcinoma, Hydrocele testis	OMIM:158350
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Plagiocephaly	OMIM:618089
Fanconi Anemia, Complementation Group N	Microphthalmia, Unilateral renal agenesis, Ectopic kidney, Pelvic kidney, Nephroblastoma, Horsesh...	OMIM:610832
Bangstad Syndrome	Abnormality of the parathyroid gland, Polycystic ovaries, Abnormal testis morphology	ORPHA:1227
Saethre-Chotzen Syndrome	Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Parietal foramina, Coronal craniosynos...	OMIM:101400
Acrodysostosis	Brachycephaly, Frontal bossing	ORPHA:950
Marden-Walker Syndrome	Renal hypoplasia, Microphthalmia, Micropenis, Hypospadias	OMIM:248700
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Microphthalmia, Sclerocornea, Micropenis	OMIM:614230
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Hypospadias, Chordee, Sclerocornea, Cataract, Peters anomaly, Micropenis, Iris co...	OMIM:309801
Pfeiffer Syndrome Type 1	Bicoronal synostosis, Brachycephaly	ORPHA:93258
Plasminogen Deficiency, Type I	Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis	OMIM:217090
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cataract, Plagiocephaly, Dysphagia	OMIM:615471
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusi...	ORPHA:363705
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly	OMIM:619995
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Plagiocephaly, Motor stereotypy	OMIM:617751
Holoprosencephaly	Microphthalmia, Cyclopia, Hypoplasia of penis, Anophthalmia, Chorea, Spasticity, Dystonia, Protei...	ORPHA:2162
Frontorhiny	Cataract, Microphthalmia, Iris coloboma	ORPHA:391474
Fryns Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Corneal opacity, Hydronephrosis, Multicystic ...	ORPHA:2059
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis, Nephrocal...	ORPHA:342
Chime Syndrome	Brachycephaly, Corneal opacity, Retinal coloboma	ORPHA:3474
Hamamy Syndrome	Brachycephaly, Craniosynostosis, Neck pterygia	OMIM:611174
Osteogenesis Imperfecta, Type Xii	Brachyturricephaly	OMIM:613849
Apert Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Acrobrachycephaly, Brachyturricephaly, Coronal cranio...	OMIM:101200
Simple Cryoglobulinemia	Abnormality of the kidney, Arthritis, Viral hepatitis, Nephrotic syndrome, Microscopic hematuria,...	ORPHA:91139
Bartter Syndrome, Type 1, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassium wasting, ...	OMIM:601678
Developmental And Epileptic Encephalopathy 65	Plagiocephaly	OMIM:618008
Blepharophimosis-Impaired Intellectual Development Syndrome	Plagiocephaly, Frontal bossing, Motor stereotypy, Overfriendliness, Attention deficit hyperactivi...	OMIM:619293
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly	ORPHA:77300
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Brachycephaly, Skull asymmetry	OMIM:614701
Fanconi Anemia, Complementation Group S	Short stature, Microphthalmia	OMIM:617883
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Dense posterior cortical cataract, Bicarbonaturia, Microphthalm...	OMIM:309000
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Xeroderma Pigmentosum, Complementation Group B	Cataract, Microphthalmia, Ataxia	OMIM:610651
Craniofrontonasal Syndrome	Coronal craniosynostosis, Frontal bossing, Axillary pterygium, Brachycephaly	OMIM:304110
Arterial Tortuosity Syndrome	Keratoconus, Craniosynostosis, Keratoglobus	ORPHA:3342
Vacterl With Hydrocephalus	Microphthalmia, Polyhydramnios, Anophthalmia, Spina bifida, Intrauterine growth retardation	ORPHA:3412
Osteogenesis Imperfecta, Type Xx	Brachycephaly, Plagiocephaly	OMIM:618644
Listeriosis	Myocarditis, Acute kidney injury, Arteritis, Miscarriage, Tremor, Conjunctivitis, Hemiparesis, Pe...	ORPHA:533
Roberts Syndrome	Cataract, Craniosynostosis, Microphthalmia, Brachycephaly	ORPHA:3103
Chromosome 17P13.1 Deletion Syndrome	Brachycephaly, Plagiocephaly, Turricephaly	OMIM:613776
Lymphedema-Distichiasis Syndrome	Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f...	OMIM:153400
20Q11.2 Microduplication Syndrome	Trigonocephaly, Brachycephaly	ORPHA:363659
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Hypospadias, Iris coloboma	OMIM:618874
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Coloboma, Renal dysplasia, Corneal opacity, Megalocornea,...	OMIM:236670
Meckel Syndrome	Abnormal chorioretinal morphology, Microphthalmia, Ureteral duplication, Anophthalmia, Microcorne...	ORPHA:564
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia, Pelvic kidney, Renal hypoplasia, Neonatal death, Hydronep...	OMIM:601186
Fanconi Anemia, Complementation Group F	Microphthalmia, Pelvic kidney, Vesicoureteral reflux, Microphallus, Renal hypoplasia, Pneumonia	OMIM:603467
Mosaic Trisomy 1	Microphthalmia, Penile hypospadias, Renal cortical cysts, Renal cyst, Opacification of the cornea...	ORPHA:1692
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Elevated urinary prostaglandin E2 level, Seborrheic dermatitis, Acne	OMIM:167100
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Jacobsen Syndrome	Microphthalmia, Hypospadias, Spasticity, Microcornea, Chorioretinal coloboma, Macular hypoplasia,...	OMIM:147791
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Microsporidiosis	Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Nephritis, Pneumonia, Osteomyelitis, Urethritis...	ORPHA:2552
Arterial Tortuosity Syndrome	Keratoconus, Astigmatism	OMIM:208050
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Mucopolysacchariduria, Abn...	ORPHA:581
Renpenning Syndrome 1	Brachycephaly, Microphthalmia, Death in childhood, Coloboma, Cataract	OMIM:309500
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Brachycephaly, Microphthalmia, Decreased calvarial ossification, Frontal bossing, Neonatal death	OMIM:617925
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachycephaly, Microphthalmia, Turricephaly, Nuclear pulverulent cataract, Sutural cataract, Prom...	OMIM:612474
Kleefstra Syndrome Due To 9Q34 Microdeletion	Flat occiput, Brachycephaly	ORPHA:96147
Alkuraya-Kucinskas Syndrome	Cataract, Plagiocephaly	OMIM:617822
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventricular septal defect, Labial...	ORPHA:96191
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Tremor, Microscopic hematuria, Abnormal renal physiology, Proteinuria	OMIM:274150
Incontinentia Pigmenti	Abnormal chorioretinal morphology, Microphthalmia, Spasticity, Skin rash, Corneal opacity, Hemipl...	ORPHA:464
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Pseudotrisomy 13 Syndrome	Microphthalmia, Cyclopia, Renal agenesis, Renal hypoplasia, Micropenis	OMIM:264480
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Brachycephaly, Plagiocephaly, Parietal foramina, Coronal craniosynostosis, Frontal bossing	ORPHA:85199
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	OMIM:251230
Microphthalmia With Limb Anomalies	Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia	OMIM:206920
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly	OMIM:618731
6Q25 Microdeletion Syndrome	Plagiocephaly	ORPHA:251056
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly	OMIM:618821
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Iris atrophy, Ectopia pupillae, Duplication of renal pelvis...	ORPHA:261552
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Hepatic steatosis, Polycystic ovaries	OMIM:151660
X-Linked Intellectual Disability, Armfield Type	Cataract, Brachycephaly	ORPHA:85276
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Death in infancy, Brachycephaly	OMIM:274000
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Posterior plagiocephaly	OMIM:617798
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Right ventricular hypertrophy	ORPHA:268
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation	OMIM:241410
Pallister-Hall Syndrome	Microphthalmia, Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypop...	OMIM:146510
Cowden Syndrome 6	Varicocele, Ovarian cyst, Goiter, Hydrocele testis	OMIM:615109
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Motor stereotypy	ORPHA:500159
Atelis Syndrome 2	Microphthalmia, Hyperinsulinemia, Remnants of the hyaloid vascular system, Developmental cataract...	OMIM:620185
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Brachycephaly	OMIM:614800
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Baller-Gerold Syndrome	Brachycephaly, Astigmatism, Lambdoidal craniosynostosis, Turricephaly, Bicoronal synostosis, Opti...	OMIM:218600
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Brachycephaly, Plagiocephaly, Retinal coloboma, Frontal bossing, Chorioretinal coloboma, Violent ...	OMIM:280000
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:610759
Osteogenesis Imperfecta, Type Xi	Brachycephaly	OMIM:610968
1P36 Deletion Syndrome	Brachycephaly, Polyphagia, Frontal bossing, Dysphagia, Motor stereotypy, Cataract, Self-injurious...	ORPHA:1606
Saethre-Chotzen Syndrome	Brachycephaly, Craniosynostosis, Plagiocephaly	ORPHA:794
Microphthalmia, Syndromic 6	Brachycephaly, Plagiocephaly, Microphthalmia, Lambdoidal craniosynostosis, Anophthalmia, Microcor...	OMIM:607932
Baller-Gerold Syndrome	Brachycephaly, Frontal bossing, Brachyturricephaly	ORPHA:1225
Congenital Factor Vii Deficiency	Ovarian cyst	ORPHA:327
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Corneopalpebral synechiae, Anophthalmia	OMIM:248450
Sweeney-Cox Syndrome	Flat occiput, Brachycephaly	OMIM:617746
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Witteveen-Kolk Syndrome	Microphthalmia, Glue ear, Hypospadias, Phimosis, Poor motor coordination, Anisocoria, Microphallu...	OMIM:613406
Fanconi Anemia, Complementation Group A	Microphthalmia, Ectopic kidney, Duplicated collecting system, Abnormal renal morphology, Renal ag...	OMIM:227650
Cowden Syndrome 5	Goiter, Ovarian cyst, Hydrocele testis	OMIM:615108
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo...	ORPHA:1304
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Steinfeld Syndrome	Microphthalmia, Unilateral renal dysplasia, Retinal coloboma, Iris coloboma	OMIM:184705
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Self-injurious behavior, Frontal bossing, Plagiocephaly	ORPHA:371364
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Oculomotor apraxia, Chorea, Tremor, Gait ataxia, Conjunctival telangiectasia, Head t...	OMIM:606002
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract	ORPHA:637
Dysostosis, Stanescu Type	Brachycephaly	ORPHA:1798
Craniosynostosis And Dental Anomalies	Brachycephaly, Turricephaly, Lambdoidal craniosynostosis, Trigonocephaly, Frontal bossing, Corona...	OMIM:614188
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I...	ORPHA:70578
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Hyperammonemia, Leukopenia, Splenomegaly, T...	OMIM:222700
Mowat-Wilson Syndrome	Abnormality of the kidney, Microphthalmia, Recurrent otitis media, Hypospadias, Microcornea, Chor...	OMIM:235730
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Glucose intolerance, Dysdiadochokinesis, Tremor, Intention tremor,...	OMIM:208900
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Prolonged neonatal jaundice, Right ventricular hypertrophy, Unconjugated h...	OMIM:620186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Microphthalmia, Exaggerated startle response	OMIM:253800
Fanconi Anemia, Complementation Group E	Microphthalmia, Ectopic kidney, Duplicated collecting system, Renal agenesis, Horseshoe kidney	OMIM:600901
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenomegaly, Aminoaci...	OMIM:617913
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, He...	ORPHA:1359
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Hypospadias, Pelvic kidney, Optic nerve hypoplasia, Coloboma, Retinal coloboma, R...	ORPHA:508498
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma	ORPHA:454840
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Polycystic ovaries	ORPHA:2176
Cleidocranial Dysplasia	Brachycephaly, Frontal bossing	ORPHA:1452
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Microphthalmia, Renal hypoplasia, Renal cyst	OMIM:616300
Pfeiffer Syndrome	Coronal craniosynostosis, Cloverleaf skull, Brachyturricephaly	OMIM:101600
Incontinentia Pigmenti	Microphthalmia, Spasticity, Keratitis, Hypoplasia of the fovea, Cataract, Maculopapular exanthema...	OMIM:308300
Dubowitz Syndrome	Microphthalmia, Hypospadias, Megalocornea, Hypoplasia of the iris, Eczematoid dermatitis, Otitis ...	OMIM:223370
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Hepatomegaly, Splenomegaly, Vaginal atresia, Hor...	OMIM:617088
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Brachycephaly, Abnormal anterior chamber morphology, Microcornea, Astigmatism	OMIM:601776
Acromelic Frontonasal Dysplasia	Brachycephaly	ORPHA:1827
Short Syndrome	Ovarian cyst	OMIM:269880
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Rena...	OMIM:617666
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Phace Association	Optic nerve hypoplasia, Microphthalmia, Developmental cataract	OMIM:606519
Scalp-Ear-Nipple Syndrome	Abnormality of the kidney, Ureteral duplication, Recurrent urinary tract infections, Cataract, Du...	ORPHA:2036
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ...	ORPHA:2388
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatomegaly, Hypocalcemia, Ascites, Portal hypertension, Increased VLD...	OMIM:243800
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine...	ORPHA:565612
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Trichothiodystrophy	Hypertonia, Astigmatism, Bilateral microphthalmos, Microcornea, Spasticity, Gait ataxia, Intentio...	ORPHA:33364
Peters Plus Syndrome	Brachycephaly, Microcornea, Corneal opacity, Frontal bossing, Cataract, Peters anomaly, Anterior ...	ORPHA:709
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Attention deficit hyperactivity disorder, Plagiocephaly, Flat occiput	OMIM:619383
Carey-Fineman-Ziter Syndrome 1	Cataract, Plagiocephaly, Dysphagia	OMIM:254940
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly	OMIM:156400
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Nephroblastoma, Abnormal cardi...	ORPHA:97297
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Motor stereotypy, Overfriendliness	OMIM:616579
Elsahy-Waters Syndrome	Cataract, Brachycephaly, Megalocornea	OMIM:211380
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating uroporphyrin concentration, Thromboc...	OMIM:263700
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Brachycephaly, Abnormal temper tantrums, Corneal opacity	ORPHA:2072
Kikuchi-Fujimoto Disease	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentr...	ORPHA:50918
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Brachycephaly	ORPHA:456312
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Renal hypoplasia/aplasia, Elevated ci...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Renal hypoplasia/aplasia, Elevated ci...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Renal hypoplasia/aplasia, Elevated ci...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Renal hypoplasia/aplasia, Elevated ci...	ORPHA:881
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Attention deficit hyperactivity disorder, Craniosynostosis, Brachycephaly, Self-mutilation	OMIM:213980
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Williams Syndrome	Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, Mitral valve prol...	ORPHA:904
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Coloboma, Cataract, Micropenis	OMIM:603457
Robinow-Sorauf Syndrome	Plagiocephaly, Pansynostosis, Craniosynostosis	OMIM:180750
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Hypospadias, Coloboma, Vesicoureteral reflux, Spastic tetraparesis, Renal cyst, P...	OMIM:616975
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card...	OMIM:620066
Joubert Syndrome 1	Plagiocephaly, Hyperactivity, Chorioretinal coloboma, Optic disc coloboma, Self-mutilation, Aggre...	OMIM:213300
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor...	ORPHA:199351
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Brachycephaly, Thickened calvaria	OMIM:309583
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Hyperactivity, Frontal bossing, Plagiocephaly	OMIM:619720
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly, Cr...	OMIM:620371
Intellectual Disability-Strabismus Syndrome	Hyperactivity, Plagiocephaly, Impulsivity, Aggressive behavior	ORPHA:363528
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Death in childhood, Frontal bossing, Dolichocephaly, Motor stereotypy, Attention d...	OMIM:619005
Cerebrofaciothoracic Dysplasia	Brachycephaly	ORPHA:1394
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Frontal bossing, Astigmatism, Optic disc coloboma	OMIM:617157
Fryns Syndrome	Stillbirth, Microphthalmia, Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydron...	OMIM:229850
Cousin Syndrome	Microcornea, Hydronephrosis, Microphthalmia	OMIM:260660
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Severe...	OMIM:620005
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Anophthalmia, Esophagitis, Renal agenesis, Crossed fuse...	ORPHA:2538
Alstrom Syndrome	Hyperinsulinemia, Chronic active hepatitis, Subcapsular cataract, Nephritis, Hyperglycemia, Recur...	OMIM:203800
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl...	ORPHA:29073
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea	OMIM:300952
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Microphthalmia	OMIM:612530
Chromosome 1P36 Deletion Syndrome, Distal	Brachycephaly, Polyphagia, Oppositional defiant disorder, Frontal bossing, Dysphagia, Optic disc ...	OMIM:607872
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Brachycephaly, Agitation, Stereotypical hand wringing, Impulsivity, Attention deficit hyperactivi...	OMIM:619950
Fg Syndrome Type 1	Plagiocephaly, Prominent occiput, Optic nerve hypoplasia, Compulsive behaviors, Attention deficit...	ORPHA:93932
Loeys-Dietz Syndrome 5	Brachycephaly, Dolichocephaly	OMIM:615582
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Hypertonia, Microphthalmia, Panniculitis, Anophthalmia, Spasticity, Erysipelas, Rigidity, Catarac...	ORPHA:2526
Cartilage-Hair Hypoplasia	Aplasia/Hypoplasia affecting the eye, Brachycephaly	ORPHA:175
Intellectual Developmental Disorder, Autosomal Dominant 64	Attention deficit hyperactivity disorder, Plagiocephaly	OMIM:619188
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Cohen Syndrome	Microphthalmia, Iris coloboma, Chorioretinal dystrophy	ORPHA:193
Neurodegeneration With Brain Iron Accumulation 1	Bradykinesia, Babinski sign, Urinary incontinence, Abnormality of extrapyramidal motor function, ...	OMIM:234200
Okamoto Syndrome	Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defect, Aortic val...	ORPHA:2729
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Retinoblastoma	Heterochromia iridis, Uveitis, Hypopyon, Leukocoria	ORPHA:790
Cartilage-Hair Hypoplasia	Brachycephaly	OMIM:250250
Fanconi Anemia, Complementation Group C	Microphthalmia, Ectopic kidney, Duplicated collecting system, Renal agenesis, Horseshoe kidney	OMIM:227645
7Q31 Microdeletion Syndrome	Hyperactivity, Abnormal temper tantrums, Dysphagia, Plagiocephaly	ORPHA:251061
2Q31.1 Microdeletion Syndrome	Coloboma, Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:251014
Knobloch Syndrome 2	Anterior cortical cataract	OMIM:618458
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	ORPHA:364577
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Polyhydramnios, Ascites, Increased nuchal translucency, Short stature, Growth del...	ORPHA:1052
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Cyclopia, Hypospadias, Hypoplasia of penis, Abnormal lo...	ORPHA:2166
Acromelic Frontonasal Dysostosis	Brachycephaly, Optic nerve hypoplasia, Parietal foramina, Remnants of the hyaloid vascular system	OMIM:603671
Distal Deletion 12Q	Brachycephaly, Obsessive-compulsive trait, Hyperactivity, Frontal bossing, Self-mutilation	ORPHA:96149
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Cyclopia, Renal hypoplasia/aplasia, Microphthalmia, Abnormal localization of kidney, Iris coloboma	ORPHA:3186
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:210710
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Prominent occiput, Plagiocephaly, Pica	OMIM:617360
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Microcornea	OMIM:225400
Pituitary Apoplexy	Mydriasis, Hypoglycemia	ORPHA:95613
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Cranial asymmetry, Frontal bossing, Parietal bossing, F...	OMIM:610828
Teebi-Shaltout Syndrome	Microphthalmia, Hydronephrosis, Horseshoe kidney, Ureteral stenosis	OMIM:272950
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior	ORPHA:309246
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Brachyturricephaly, Repetitive compulsive behavior, Motor stereotypy, Self-mutilation, Self-biting	ORPHA:522077
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Astigmatism	OMIM:618548
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormal renal collecting system morphology, Hypertonia, Hyperkinetic movements, Unilateral renal...	ORPHA:468631
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis...	OMIM:301111
Doors Syndrome	Brachycephaly, Prominent occiput, Anterior plagiocephaly, Frontal bossing, Cataract, Sagittal cra...	ORPHA:79500
Monosomy 9P	Trigonocephaly, Microphthalmia, Calvarial skull defect, Brachycephaly	ORPHA:261112
Houge-Janssens Syndrome 2	Plagiocephaly	OMIM:616362
Zygomycosis	Myocarditis, Fasciitis, Pancreatitis, Gastritis, Acute infectious pneumonia, Hepatitis, Sinusitis...	ORPHA:73263
Fanconi Anemia, Complementation Group D2	Microphthalmia, Ectopic kidney, Duplicated collecting system, Pelvic kidney, Renal agenesis, Rena...	OMIM:227646
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin concentration, Hyperbilirubinemia	OMIM:218700
Fanconi Anemia	Microphthalmia, Astigmatism, Hydroureter, Hypospadias, Abnormal preputium morphology, Renal hypop...	ORPHA:84
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Accessory spleen, Asplenia,...	OMIM:249000
Osteogenesis Imperfecta	Brachycephaly, Corneal opacity, Dysphagia, Prominent occiput	ORPHA:666
Hand-Foot-Genital Syndrome	Hypospadias, Renal insufficiency, Vesicoureteral reflux, Chordee, Ureteropelvic junction obstruct...	OMIM:140000
Dihydropyrimidinase Deficiency	Hyperactivity, Plagiocephaly	OMIM:222748
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microphthalmia, Buphthalmos, Spasticity, Coloboma, Megalocornea, Hypoplasia of the retina, Myoclo...	OMIM:253280
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly, Impulsivity, Aggressive behavior	OMIM:261990
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Brachycephaly, Frontal bossing	OMIM:616728
Aspartylglucosaminuria	Cataract, Thickened calvaria, Brachycephaly	OMIM:208400
14Q22Q23 Microdeletion Syndrome	Brachycephaly, Optic nerve aplasia, Anophthalmia	ORPHA:264200
Fontaine Progeroid Syndrome	Brachycephaly, Microphthalmia, Turricephaly, Death in infancy, Coronal craniosynostosis, Neonatal...	OMIM:612289
Wolf-Hirschhorn Syndrome	Rieger anomaly, Hypospadias, Ectopia pupillae, Iris coloboma	OMIM:194190
Roberts-Sc Phocomelia Syndrome	Brachycephaly, Stillbirth, Microphthalmia, Craniosynostosis, Coloboma, Corneal opacity, Cataract,...	OMIM:268300
Coffin-Siris Syndrome 1	Brachycephaly, Plagiocephaly, Astigmatism, Compulsive behaviors, Frontal bossing, Aggressive beha...	OMIM:135900
Cornelia De Lange Syndrome	Brachycephaly, Microcornea, Compulsive behaviors, Cataract, Attention deficit hyperactivity disorder	ORPHA:199
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly	ORPHA:2062
Chromosome 15Q11.2 Deletion Syndrome	Attention deficit hyperactivity disorder, Plagiocephaly, Compulsive behaviors, Motor stereotypy	OMIM:615656
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo...	ORPHA:365
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Flat occiput, Brachycephaly	ORPHA:2211
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Iris atrophy, Absent anterior chamber of the eye, Cataract, Phthisis bulbi	OMIM:259770
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c...	OMIM:300967
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Microphthalmia, Ectopic kidney, Corneal ulceration, Pter...	OMIM:263650
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Developmental cataract	OMIM:127000
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Brachycephaly, Plagiocephaly	OMIM:301072
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Down Syndrome	Brachycephaly, Brushfield spots	OMIM:190685
Shprintzen-Goldberg Craniosynostosis Syndrome	Craniosynostosis, Frontal bossing, Dolichocephaly, Brachyturricephaly	OMIM:182212
Monosomy 9Q22.3	Cataract, Microphthalmia, Nephroblastoma	ORPHA:77301
Wiedemann-Rautenstrauch Syndrome	Brachycephaly, Parietal bossing, Frontal bossing, Dysphagia, Cataract	OMIM:264090
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Brachycephaly, Hyperactivity, Trigonocephaly, Motor stereotypy, Craniosynostosis	OMIM:309590
Kbg Syndrome	Attention deficit hyperactivity disorder, Brachycephaly	OMIM:148050
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypertonia, Maturity-onset diabetes of the young, Oculogyric crisis, Tremor, Cerebral palsy, Park...	ORPHA:1578
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Flat occiput, Optic nerve hypoplasia, Plagiocephaly, Motor stereotypy	ORPHA:300570
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Involuntary movements, Rigidity, Dystonia, Parkinsonism, Eyelid apraxia	OMIM:615530
Noonan Syndrome With Multiple Lentigines	Brachycephaly	ORPHA:500
Distal Deletion 3P	Brachycephaly	ORPHA:1620
Aicardi Syndrome	Hypertonia, Microphthalmia, Spasticity, Hemiplegia/hemiparesis, Chorioretinal coloboma, Optic dis...	ORPHA:50
Basal Cell Nevus Syndrome 1	Cataract, Microphthalmia, Iris coloboma	OMIM:109400
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Micropenis, Chorioretinal coloboma, Iris coloboma	OMIM:613884
22Q11.2 Deletion Syndrome	Chronic otitis media, Corneal neovascularization, Microphthalmia, Hypospadias, Polycystic kidney ...	ORPHA:567
Fibrous Dysplasia Of Bone	Precocious puberty in females, Testicular neoplasm, Hyperpituitarism, Ovarian cyst, Elevated circ...	ORPHA:249
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic nerve hypoplasia, Plagiocephaly, Retinal coloboma	OMIM:300749
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl...	OMIM:201750
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Remnants of the hyaloid vascular system, ...	OMIM:300166
Tetraamelia Syndrome 1	Cataract, Renal agenesis, Microphthalmia, Urethral atresia	OMIM:273395
Plague	Mydriasis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthritis,...	ORPHA:707
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Microphthalmia, Hypospadias, Abnormal penis morphology, Anophthalmia, Corneal opacity...	ORPHA:2556
Feingold Syndrome Type 1	Abnormality of the kidney, Vesicoureteral reflux, Nephritis, Hydronephrosis, Renal dysplasia, Ren...	ORPHA:391641
Townes-Brocks Syndrome	Abnormality of the kidney, Microphthalmia, Ectopic kidney, Hypospadias, Hypoplasia of penis, Vesi...	ORPHA:857
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Parotitis...	OMIM:256040
Monosomy 13Q14	Cataract, Microphthalmia, Iris coloboma	ORPHA:1587
Fanconi Anemia, Complementation Group L	Renal hypoplasia, Microphthalmia, Micropenis, Unilateral renal agenesis	OMIM:614083
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior, Hypokalemia	OMIM:219090
Primrose Syndrome	Brachycephaly, Tics, Posterior polar cataract, Motor stereotypy, Restlessness, Attention deficit ...	OMIM:259050
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Hypospadias, Torticollis, Antecubital pterygium, Micropenis,...	OMIM:609945
Duplication Of The Pituitary Gland	Brachyturricephaly, Self-mutilation	ORPHA:314621
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anterior plagiocephaly, Left unicoronal synostosis, Plagiocephaly	OMIM:614749
Ohdo Syndrome, X-Linked	Microphthalmia, Micropenis	OMIM:300895
Turnpenny-Fry Syndrome	Attention deficit hyperactivity disorder, Frontal bossing, Brachycephaly, Plagiocephaly	OMIM:618371
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly	OMIM:608980
Galloway-Mowat Syndrome 4	Plagiocephaly	OMIM:617730
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Renal artery stenosis, Cardiomyopathy, Cryptorchidism, Renovas...	ORPHA:3472
Neu-Laxova Syndrome 1	Short umbilical cord, Microphthalmia, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifi...	OMIM:256520
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Craniosynostosis, Coloboma, Bruxism, Plagiocephaly	ORPHA:453499
Igg4-Related Pachymeningitis	Pancreatitis, Parotitis, Lymphadenitis, Paraparesis, Sinusitis, Nephritis	ORPHA:449427
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Frontal bossing	ORPHA:1974
Alström Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia	OMIM:620305
Skin Creases, Congenital Symmetric Circumferential, 2	Ureterocele, Microcornea, Microphthalmia, Hypospadias	OMIM:616734
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Hyperphosphaturia, Pericardial effu...	ORPHA:51608
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Craniosynostosis, Microcornea, Frontal bossing, Plagiocephaly	ORPHA:536467
Charge Syndrome	Microphthalmia, Anophthalmia, Coloboma, Vesicoureteral reflux, Hydronephrosis, Chorioretinal colo...	ORPHA:138
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly	OMIM:605282
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Hypertonia, Tremor, Spasticity, Rigidity	OMIM:176500
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Plagiocephaly, Dysphagia, Motor stereotypy	ORPHA:496641
Aicardi Syndrome	Microphthalmia, Recurrent pneumonia, Chorioretinal lacunae, Optic disc coloboma, Cataract	OMIM:304050
X-Linked Intellectual Disability, Snyder Type	Brachycephaly	ORPHA:3063
Developmental And Epileptic Encephalopathy 84	Plagiocephaly	OMIM:618792
Smooth Muscle Dysfunction Syndrome	Mydriasis	OMIM:613834
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Oculomotor apraxia, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor...	OMIM:612716
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Horseshoe kidney, Death in infancy	ORPHA:1106
Mandibuloacral Dysplasia Progeroid Syndrome	Brachycephaly, Frontal bossing, Death in childhood	OMIM:619127
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Brachycephaly	OMIM:616263
Osteopetrosis With Renal Tubular Acidosis	Brachycephaly, Plagiocephaly, Thickened calvaria	ORPHA:2785
Anauxetic Dysplasia 3	Plagiocephaly	OMIM:618853
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cataract, Astigmatism, Brachycephaly	ORPHA:480880
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:457193
Vascular Ehlers-Danlos Syndrome	Hypospadias, Periodontitis, Keratoconus, Renovascular hypertension, Bladder diverticulum, Osteoar...	ORPHA:286
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Attention deficit hyperactivity disorder, Plagiocephaly	OMIM:619227
Mend Syndrome	Cataract, Microphthalmia, Limb hypertonia	ORPHA:401973
Focal Dermal Hypoplasia	Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Ectopia lentis, Hydronephrosis, Cho...	OMIM:305600
Pfeiffer Syndrome Type 3	Brachyturricephaly	ORPHA:93260
Branchioskeletogenital Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria	ORPHA:1299
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly	ORPHA:2063
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Dolichocephaly	ORPHA:2215
Craniotubular Dysplasia, Ikegawa Type	Mydriasis, Phthisis bulbi	OMIM:619727
Retinoblastoma	Leukocoria	OMIM:180200
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly	OMIM:263520
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Frontal bossing, Plagiocephaly	OMIM:617193
Congenital Myopathy 13	Brachycephaly	OMIM:255995
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly	OMIM:618106
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Brachycephaly, Impulsivity, Frontal bossing, Stereotypical body rocking, Dolichocephaly, Dysphagi...	OMIM:619503
Carpenter Syndrome 2	Brachycephaly, Trigonocephaly, Frontal bossing, Craniosynostosis, Oxycephaly	OMIM:614976
Myhre Syndrome	Microphthalmia, Short stature, Pericardial effusion, Intrauterine growth retardation, Birth lengt...	OMIM:139210
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly	OMIM:227330
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Brachycephaly, Neonatal death	OMIM:265380
Microphthalmia, Syndromic 1	Microphthalmia, Ciliary body coloboma, Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Anopht...	OMIM:309800
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Holoprosencephaly 1	Cyclopia, Hypoglycemia, Microphthalmia, Micropenis	OMIM:236100
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Microphthalmia, Oligohydramnios	OMIM:608670
Charge Syndrome	Microphthalmia, Anophthalmia, Coloboma, Unilateral microphthalmos, Retinal coloboma, Renal agenes...	OMIM:214800
Arboleda-Tham Syndrome	Plagiocephaly, Astigmatism, Frontal bossing, Dysphagia, Motor stereotypy, Conjunctivitis, Cranios...	OMIM:616268
Hunter-Macdonald Syndrome	Brachycephaly	OMIM:611962
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Microphthalmia	ORPHA:306542
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Cataract, Plagiocephaly	ORPHA:3042
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Turricephaly	OMIM:620224
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Frontal bossing, Turricephaly, Plagiocephaly	OMIM:613603
Hydrolethalus Syndrome 1	Microphthalmia, Polyhydramnios, Anencephaly, Accessory spleen, Intrauterine growth retardation	OMIM:236680
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Bilateral microphthalmos, Short stature, Growth delay, Intrauterine...	ORPHA:93325
Ring Chromosome 7 Syndrome	Brachycephaly, Plagiocephaly	ORPHA:1449
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly	OMIM:239300
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Recurrent urinary tract infections, Vesicoureteral reflux, Urethral...	ORPHA:90349
Au-Kline Syndrome	Plagiocephaly, Dolichocephaly, Attention deficit hyperactivity disorder, Craniosynostosis, Sagitt...	OMIM:616580
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu...	ORPHA:572333
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly	ORPHA:2916
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Renal cyst, Retinal coloboma, Renal agenesis, Cataract...	OMIM:113620
Opitz-Kaveggia Syndrome	Attention deficit hyperactivity disorder, Frontal bossing, Plagiocephaly	OMIM:305450
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Astigmatism, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Rec...	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia, Urinary incontinence, Ataxia, Abnormality of the kidney, Astigmatism, Hypospadias...	ORPHA:2152
Fraser Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Anophthalmia, Death i...	ORPHA:2052
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Corneal opacity, Developmental cataract, Bladder diverticulum, Bronchi...	ORPHA:90348
Fraser Syndrome 1	Bilateral microphthalmos, Renal hypoplasia/aplasia, Hypospadias, Anophthalmia, Corneal opacity, R...	OMIM:219000
Holoprosencephaly 2	Cyclopia, Microphthalmia, Remnants of the hyaloid vascular system, Chorioretinal coloboma, Iris c...	OMIM:157170
Faciocardiorenal Syndrome	Plagiocephaly	ORPHA:1973
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cataract, Plagiocephaly	ORPHA:444077
Fibrochondrogenesis	Plagiocephaly	ORPHA:2021
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature, Occipital meningocele	OMIM:610829
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Optic nerve hypoplasia, Plagiocephaly	ORPHA:457284
Specc1L-Related Hypertelorism Syndrome	Brachycephaly	ORPHA:1519
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Brachycephaly	OMIM:610442
Chilton-Okur-Chung Neurodevelopmental Syndrome	Plagiocephaly, Posterior plagiocephaly, Septo-optic dysplasia, Frontal bossing, Dolichocephaly, A...	OMIM:619841
Viss Syndrome	Brachycephaly, Frontal bossing, Dolichocephaly, Dysphagia	OMIM:619472
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Plagiocephaly, Head-banging, Optic nerve hypoplasia, Impulsivity, Dysphagia, Attention deficit hy...	OMIM:620455
Chromosome 14Q11-Q22 Deletion Syndrome	Plagiocephaly	OMIM:613457
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplasia, Branchial cyst, Short sta...	ORPHA:508488
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Cranial asymmetry, Corneal opacity, Frontal bossing, Cataract, Thickened c...	ORPHA:3455
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Keratoconjunctivitis sicca	ORPHA:285
Atelosteogenesis Type Ii	Plagiocephaly	ORPHA:56304
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353281
Cleidocranial Dysplasia 2	Plagiocephaly	OMIM:620099
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus	OMIM:130050
Pallister-Hall Syndrome	Microphthalmia, Short stature, Umbilical hernia, Intrauterine growth retardation, Oligohydramnios	ORPHA:672
Adams-Oliver Syndrome 1	Microphthalmia, Encephalocele	OMIM:100300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Brachyturricephaly	ORPHA:83617
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly	OMIM:620083
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Plagiocephaly, Aggressive behavior, Frontal bossing, Thickened calvaria, Pseudobulbar paralysis	ORPHA:466791
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Renal agenesis, Ureteropelvi...	OMIM:164210
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:1521
Faundes-Banka Syndrome	Frontal bossing, Dysphagia, Plagiocephaly	OMIM:619376
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353277
Trichorhinophalangeal Syndrome, Type Ii	Plagiocephaly, Astigmatism, Skull asymmetry	OMIM:150230
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Dolichocephaly, Plagiocephaly	OMIM:619480
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Frontal bossing, Miscarriage, Plagiocephaly	ORPHA:96334
6Q Terminal Deletion Syndrome	Plagiocephaly, Dolichocephaly	ORPHA:75857
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Plagiocephaly, Aggressive behavior	OMIM:613355

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

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X-ray

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X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

Human diseases caused by Maf mutations

Histopathology

IMPC related publications

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