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Gene: Maf MGI:96909

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Gene Summary

Name:
MAF bZIP transcription factor
Synonyms:
c-maf,  A230108G15Rik,  2810401A20Rik

Order Alleles

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 System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Mafem1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Mafem1(IMPC)Mbp HET Late adult 0.00
decreased prepulse inhibition Mafem1(IMPC)Mbp HET Early adult 9.00×10-09
urinary bladder obstruction Mafem1(IMPC)Mbp HET Late adult 0.00
embryonic growth retardation Mafem1(IMPC)Mbp HOM E15.5 0.00
enlarged spleen Mafem1(IMPC)Mbp HET Late adult 0.00
increased freezing behavior Mafem1(IMPC)Mbp HET Early adult 1.55×10-05
abnormal kidney morphology Mafem1(IMPC)Mbp HET Late adult 0.00
small kidney Mafem1(IMPC)Mbp HET Late adult 0.00
abnormal liver size Mafem1(IMPC)Mbp HET E15.5 0.00
microphthalmia Mafem1(IMPC)Mbp HET E15.5 0.00
enlarged spleen Mafem1(IMPC)Mbp HET Early adult 0.00
abnormal vitreous body morphology Mafem1(IMPC)Mbp HET Late adult 3.22×10-05
abnormal placenta vasculature Mafem1(IMPC)Mbp HOM E15.5 0.00
enlarged ovary Mafem1(IMPC)Mbp HET Late adult 0.00
small spleen Mafem1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Mafem1(IMPC)Mbp HET Late adult 0.00
microphthalmia Mafem1(IMPC)Mbp HOM E15.5 0.00
abnormal liver size Mafem1(IMPC)Mbp HOM E15.5 0.00
abnormal liver morphology Mafem1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Mafem1(IMPC)Mbp HET Late adult 0.00
increased circulating bilirubin level Mafem1(IMPC)Mbp HET Early adult 2.95×10-05
abnormal placenta morphology Mafem1(IMPC)Mbp HOM E15.5 0.00
abnormal ovary morphology Mafem1(IMPC)Mbp HET Late adult 0.00
increased grip strength Mafem1(IMPC)Mbp HET Middle aged adult 6.30×10-05
abnormal blood vessel morphology Mafem1(IMPC)Mbp HOM E15.5 0.00
cataract Mafem1(IMPC)Mbp HET Late adult 8.53×10-05
enlarged heart Mafem1(IMPC)Mbp HET Late adult 0.00
edema Mafem1(IMPC)Mbp HOM E15.5 0.00
abnormal liver morphology Mafem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Mafem1(IMPC)Mbp HOM   Early adult 0.00
small liver Mafem1(IMPC)Mbp HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

128 Images

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X-ray

XRay Images Whole Body Lateral Orientation

64 Images

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Gross Morphology Embryo E14.5-E15.5

Images

28 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

40 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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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.

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

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

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

Disease Similarity of
phenotypes		 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
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform 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
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Cataract 44
Developmental cataract OMIM:616509
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice OMIM:179700
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Trichomegaly
Cataract OMIM:190330
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona... ORPHA:79234
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Cataract 42
Cataract, Developmental cataract OMIM:115900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:606785
Microphthalmia/Coloboma 4
Microcornea, Coloboma, Microphthalmia OMIM:251505
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Brachycephaly, Microphthalmia ORPHA:2528
Cahmr Syndrome
Lamellar cataract OMIM:211770
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... OMIM:615382
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... 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
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra... OMIM:619256
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Rotor Syndrome
Jaundice, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Intermittent jaundice ORPHA:3111
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma OMIM:616428
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Microphthalmia, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Cataract 11, Multiple Types
Cataract, Chorea, Hypertonia, Developmental cataract, Microphthalmia OMIM:610623
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly, Cataract ORPHA:79281
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ... OMIM:143500
Familial Renal Glucosuria
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections ORPHA:69076
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... OMIM:235700
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... OMIM:605814
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Hematuria, Microphthalmia, Iris coloboma OMIM:120433
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia 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
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Hepa... ORPHA:890
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... OMIM:243300
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Gómez-López-Hernández Syndrome
Brachycephaly, Turricephaly, Corneal opacity ORPHA:1532
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
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin ORPHA:2924
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia, Athetosis OMIM:618857
X-Linked Retinoschisis
Cataract ORPHA:792
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... ORPHA:64743
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor OMIM:165300
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Anorexia ORPHA:52416
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo... OMIM:618892
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate... OMIM:601847
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... ORPHA:85445
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Spasticity, Death in infancy, Neonatal death, Microphthalmia, Ectopic kidney, Cystic re... OMIM:613730
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:616649
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Ethanolaminosis
Cardiomegaly OMIM:227150
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... OMIM:615415
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease, Increased total bilirubin OMIM:174050
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hypoglycemia, Ren... OMIM:231680
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... OMIM:266200
Variegate Porphyria
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria, Par... OMIM:176200
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Alexander Disease
Spasticity, Death in childhood, Dysmetria, Death in infancy, Babinski sign, Death in adolescence,... OMIM:203450
Gombo Syndrome
Microphthalmia OMIM:233270
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Dent Disease
Renal phosphate wasting, Cataract, Chronic kidney disease, Focal segmental glomerulosclerosis, Am... ORPHA:1652
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Cataract, Spasticity, Tremor, Microphthalmia OMIM:278780
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, 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
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Intellectual Developmental Disorder, Autosomal Dominant 67
Posterior plagiocephaly, Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyper... OMIM:619927
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma OMIM:611638
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Dihydropyrimidine Dehydrogenase Deficiency
Elevated urinary dihydrothymine level, Coloboma, Tetraplegia, Hypertonia, Microphthalmia, Uraciluria OMIM:274270
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hyperphenylalaninemia, Bh4-Deficient, D
Elevated urinary 7-biopterin level, Hypertonia, Tremor OMIM:264070
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili... ORPHA:234
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Glycosuria, Renal tubular aci... OMIM:613404
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Nuclear cataract OMIM:611131
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Cataract 49
Posterior cortical cataract OMIM:619593
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Malaria
Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:673
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo... ORPHA:566
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia OMIM:605479
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Eye poking OMIM:204100
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Edema, Microphthalmia OMIM:616570
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Corneal opacity, Microphthalm... ORPHA:1473
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Abnormality of the ... ORPHA:2869
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Macular coloboma, Eye poking OMIM:613835
Porphyria, Acute Hepatic
Respiratory paralysis, Elevated urinary delta-aminolevulinic acid, Paralysis OMIM:612740
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Neonatal death OMIM:273680
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Foveal Hypoplasia 2
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia OMIM:609218
Dermoids Of Cornea
Corneal opacity OMIM:304730
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
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
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... ORPHA:247598
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Conjugated hyperbiliru... OMIM:269920
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Tremor, Proteinuria, Renal Fanconi syndro... ORPHA:263455
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
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
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Ambiguous genitalia, Pericardial effusion, Polycystic kidney dysplasia, E... OMIM:613885
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Trimethylaminuria
Anemia, Depression, Splenomegaly, Neutropenia OMIM:602079
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma OMIM:610023
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Glycosuria OMIM:606824
Galactosemia Ii
Cataract OMIM:230200
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract OMIM:617547
Nanophthalmos 4
Microphthalmia OMIM:615972
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:214950
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E... ORPHA:79303
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Proximal Myotonic Myopathy
Cataract ORPHA:606
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Nanophthalmos
Microphthalmia ORPHA:35612
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Ketonuria, Glycosuria ORPHA:2089
Galactosemia Iv
Cataract OMIM:618881
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Hyperphosphaturia, Proteinuria, Diabet... OMIM:616026
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, E... OMIM:251880
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Postprandial hyperglycemia, Glycosuria,... ORPHA:2088
Exudative Vitreoretinopathy 6
Cataract, Nuclear cataract, Cortical cataract OMIM:616468
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Galactosemia Iii
Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly OMIM:230350
Mody
Nephropathy, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance,... ORPHA:552
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Leber Congenital Amaurosis 1
Keratoconus, Eye poking, Cataract OMIM:204000
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran... OMIM:602347
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Proximal Renal Tubular Acidosis
Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Glycosuria, Hypernatriuria, Low-mole... ORPHA:47159
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Death in childhood, Prot... OMIM:220110
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Cat-Eye Syndrome
Chorioretinal coloboma, Renal hypoplasia/aplasia, Hydronephrosis, Microphthalmia, Abnormal locali... ORPHA:195
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... OMIM:300908
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... OMIM:269400
Desanto-Shinawi Syndrome
Astigmatism, Aggressive behavior, Attention deficit hyperactivity disorder, Brachycephaly, Agitation OMIM:616708
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly, Anorexia ORPHA:86893
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria OMIM:161900
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Self-injurious behavior, Aggressive behavior, Brachycephaly OMIM:300699
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Horseshoe kidney, Tetralogy of Fallot, Septate vagina, ... OMIM:608978
Intellectual Developmental Disorder, X-Linked 1
Aggressive behavior, Brachycephaly OMIM:309530
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... OMIM:121300
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Autoimmune Hepatitis
Depression, Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased t... ORPHA:2137
Dermatitis, Atopic
Conjunctivitis, Keratoconus, Cataract OMIM:603165
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
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, Brachycephaly, Plagiocephaly, Dolichocephaly ORPHA:272
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre... OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Opitz Gbbb Syndrome
Abnormality of the urinary system, Bifid scrotum, Abnormal heart morphology, Vesicoureteral reflu... ORPHA:2745
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Spastic gait, Urinary bladder sphincter dysfunction, Tremor, Babinski sign, L... OMIM:600363
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Optic atrophy, Bone marrow hypocellularity, Hypert... OMIM:617303
Rabson-Mendenhall Syndrome
Precocious puberty, Nephrocalcinosis, Long penis, Clitoral hypertrophy, Cardiomyopathy, Ventricul... ORPHA:769
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Renal ... OMIM:608836
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Blue irides, Hypera... OMIM:615516
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonep... OMIM:608709
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ... OMIM:613490
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con... ORPHA:288
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... OMIM:613280
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced hapto... 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
Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbil... OMIM:619685
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia OMIM:161200
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:300915
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Elevated circulating aspartate aminotransferase concentration, Ventricular septal defec... OMIM:614876
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Insulin-Resistance Syndrome Type B
Nephritis, Biliary cirrhosis, Glycosuria, Leukopenia, Polycystic ovaries, Proteinuria, Enlarged p... ORPHA:2298
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... ORPHA:464329
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Ascites, Elevated circulating aspartate aminotransferase concentration, Hyperamm... OMIM:617049
Wolman Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure OMIM:620151
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Abnormal cornea morphology, Corne... ORPHA:411634
Leprechaunism
Nephrocalcinosis, Long penis, Clitoral hypertrophy, Overgrowth of external genitalia, Hypertrophi... ORPHA:508
Intrahepatic Cholestasis Of Pregnancy
Depression, Elevated circulating hepatic transaminase concentration, Ascites, Hyperbilirubinemia,... ORPHA:69665
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Hypoglycemia, Chorea, Dysmetria, Abnormal pyramidal sign, Ataxia, Micropht... ORPHA:48431
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Cataract, Death in childhood, Enterocolitis, Microphthalmia, ... OMIM:301108
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... ORPHA:3337
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly ORPHA:178377
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia ORPHA:324416
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr... ORPHA:400
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Cataract, Nephritis, Anterior lenticonus, Glomerular base... OMIM:203780
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobuli... OMIM:227810
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Non-Distal Duplication 10Q
Brachycephaly, Frontal bossing, Aplasia/Hypoplasia affecting the eye ORPHA:1695
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Brachycephaly, Coloboma, Microphthalmia, Dysphagia OMIM:612379
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Pierpont Syndrome
Brachycephaly, Microcornea, Microphthalmia ORPHA:487825
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
2Q24 Microdeletion Syndrome
Cataract, Coloboma, Abnormality iris morphology, Microphthalmia ORPHA:1617
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Nathalie Syndrome
Cataract OMIM:255990
Intellectual Developmental Disorder, Autosomal Dominant 23
Compulsive behaviors, Brachycephaly, Astigmatism OMIM:615761
Wilson Disease
Aminoaciduria, Sunflower cataract, Poor motor coordination, Glycosuria, Kayser-Fleischer ring, Ha... OMIM:277900
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp... OMIM:601775
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:616299
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Plagiocephaly, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Tyrosinemia, Type I
Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, Elevated circulating h... OMIM:276700
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Maturity-onset diabetes of the young, St... OMIM:137920
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Astigmatism, Retrocollis, Tremor, Craniofacial dystoni... OMIM:617284
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Reduced haptoglobin level, Irritability, Hemolytic anemia OMIM:612126
Neuraminidase Deficiency
Cataract, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased ur... OMIM:256550
Wolcott-Rallison Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins... ORPHA:1667
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Abnormality of retinal pigmenta... ORPHA:858
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Infantile Nephropathic Cystinosis
Aminoaciduria, Abnormal cornea morphology, Corneal crystals, Glycosuria, Low-molecular-weight pro... ORPHA:411629
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Morm Syndrome
Micropenis, Cataract, Retinal atrophy, Abnormality of the kidney ORPHA:75858
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly ORPHA:35099
Aicardi-Goutieres Syndrome 6
Splenomegaly, Irritability, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
Urocanase Deficiency
Gait ataxia, Urocanic aciduria, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Skull asymmetry, Turricephaly, Brachycephaly, Hyperactivity, Craniosynos... OMIM:601853
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia, Urinary urgency OMIM:605909
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... OMIM:612526
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract ORPHA:2848
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Polyphagia, Hyperbilirubinemia OMIM:609734
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232220
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Hyp... OMIM:106210
Molybdenum Cofactor Deficiency, Type A
Decreased urinary urate, Increased urinary taurine, Ectopia lentis, Spastic tetraparesis, Increas... OMIM:252150
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:98870
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Brachycephaly, Microphthalmia, Brushfield spots, Iris colo... ORPHA:1791
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Dysphagia, Frontal bossing OMIM:264470
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Urinar... OMIM:213600
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Microphthalmia, Lens coloboma, Motor stereotypy, Im... OMIM:618914
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Molybdenum Cofactor Deficiency, Type B
Increased urinary taurine, Decreased urinary urate, Ectopia lentis, Increased urinary hypoxanthin... OMIM:252160
Rh-Null, Regulator Type
Jaundice, Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Spasticity, Glycosuria, Glucose intolerance, Renal tubular dysfunction, Tremor, Babinski sign, Hy... OMIM:616539
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Microphthalmi... ORPHA:85284
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Frontal bossing, Astigmatism, Turricephaly, Brachycephaly, Compulsive be... OMIM:613174
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
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
Central posterior corneal opacity, Keratoconus OMIM:244600
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Crouzon Syndrome
Multiple suture craniosynostosis, Frontal bossing, Turricephaly, Brachycephaly, Conjunctivitis, I... ORPHA:207
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Frequent falls OMIM:160565
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Renal... OMIM:130650
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Brachycephaly ORPHA:1387
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentrati... OMIM:232800
Pierson Syndrome
Cataract, Nephrotic syndrome, Hypoplasia of the iris, Hyperechogenic kidneys, Rieger anomaly, Uve... OMIM:609049
Senior-Loken Syndrome
Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o... ORPHA:3156
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst OMIM:268650
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Neonatal death OMIM:615524
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Bilateral microphthalmos, Overfriendliness, Aggressive behavior, Brachycephaly, Hy... ORPHA:369891
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Thyrocerebrorenal Syndrome
Nephritis, Myoclonus, Renal insufficiency, Nonprogressive cerebellar ataxia, Slurred speech ORPHA:3327
Ectopia Lentis 1, Isolated, Autosomal Dominant
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:129600
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter... OMIM:314390
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria, Remnants of the hyaloid vascular system, Spasticity OMIM:257910
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Cofs Syndrome
Cataract, Death in infancy, Hypertonia, Microphthalmia ORPHA:1466
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Irritability, An... ORPHA:848
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti... OMIM:200995
Facial Clefting, Oblique, 1
Coloboma, Microphthalmia OMIM:600251
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur... ORPHA:335
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy ORPHA:79292
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Cataract, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Death in childhood, Optic nerve hypoplasia OMIM:620609
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Death in childhood, Tremor OMIM:619651
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Panc... ORPHA:521219
Cebalid Syndrome
Plagiocephaly, Platystencephaly, Turricephaly, Polyphagia, Brachycephaly, Dolichocephaly OMIM:618774
Cystathioninuria
Tremor, Cystathioninuria, Nephrolithiasis ORPHA:212
Biemond Syndrome Type 2
Coloboma, Hypospadias, Microphthalmia ORPHA:141333
Joubert Syndrome 22
Renal hypoplasia, Coloboma, Oculomotor apraxia, Microphthalmia OMIM:615665
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi... ORPHA:95715
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperbilirubinemia, Absent gallbla... OMIM:615710
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... ORPHA:232
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries ORPHA:79084
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,... ORPHA:75563
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly, Hyperopic astigmatism OMIM:607313
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Bone marrow hypocellularity, Conjunctivitis, Abnormal heart morphology, Heparan su... ORPHA:505248
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Brachycephaly, Abnormally prominent line of Schwalbe OMIM:109120
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100024
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Urinary incontinence... OMIM:618093
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatitis, Hemophagocytosis, Increased circulating ferritin concentration, Pancy... OMIM:300635
H Syndrome
Corneal arcus, Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Hyp... ORPHA:168569
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Hyperg... ORPHA:99885
Developmental And Epileptic Encephalopathy 1
Dystonia, Abnormal pyramidal sign, Hypertonia, Microphthalmia, Micropenis, Spastic tetraparesis, ... OMIM:308350
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Renal insufficiency, Gout, Abnormality of extrapyramidal motor ... ORPHA:79233
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Lymphadenopathy,... OMIM:209950
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Hypoplasia of the... ORPHA:54
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Scorpion Envenomation
Acute kidney injury, Mydriasis, Ketonuria, Glycosuria, Hemifacial spasm, Hyperglycemia, Myoclonus... ORPHA:466677
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia ORPHA:95717
Ovarian Hyperstimulation Syndrome
Ascites, Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased circulati... ORPHA:64739
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros... ORPHA:449395
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly OMIM:620200
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Elevate... OMIM:614887
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:602390
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Corneal crystals, Glycosuria, Low-molecular-weight prot... OMIM:219800
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hepatic failure, Splenomegaly ORPHA:664
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urinary tract infec... ORPHA:3467
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:609054
Even-Plus Syndrome
Cataract, Brachycephaly OMIM:616854
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy... ORPHA:251282
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Mulibrey Nanism
Pigmentary retinopathy, Ascites, Astigmatism, Nephroblastoma, Cardiomegaly, Pericardial constrict... OMIM:253250
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Hy... ORPHA:39812
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocy... OMIM:259720
Phenylketonuria
Eczematoid dermatitis, Tremor, Phenylalaninuria, Lower limb spasticity, Ataxia ORPHA:716
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicoureteral ... OMIM:120200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea, Hy... OMIM:615877
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Mic... OMIM:618805
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia, Cataract, Retinal coloboma OMIM:601794
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Xq28 (MECP2) duplication
Motor stereotypy, Brachycephaly, Dysphagia, Death in childhood DECIPHER:45
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate... OMIM:615234
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Azoospermia, Sp... OMIM:235200
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Hyperparathyroidism, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hepatic fibrosis, Intrahepatic cholestasis, Decreased liver function, Elevated c... OMIM:617093
Relapsing Fever
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ... ORPHA:91547
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis... ORPHA:276280
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy... ORPHA:90796
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Babesiosis
Hepatic failure, Depression, Leukopenia, Splenomegaly, Thrombocytopenia, Anorexia, Hepatomegaly, ... ORPHA:108
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Cataract, Elevated urinary 3-hydroxybutyric acid... OMIM:614105
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Limb ataxia, Type II diabetes mellitus, Progressive gait ataxia, Abnormal pyramidal si... ORPHA:247815
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Dysphagia, Keratoconjunctivitis sicca ORPHA:411777
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Abnormal calvaria morphology, Trigonocephaly, Scaphocephaly, Dolichocephaly, Cranios... OMIM:175700
Hijazi-Reis Syndrome
Hyperbilirubinemia, Motor stereotypy OMIM:301094
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Turricephaly OMIM:601224
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Elevated urinary homovanillic acid, Incoordination, Tremor, Parkinsonism, Atax... OMIM:618049
Craniosynostosis 6
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal... OMIM:616602
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of... ORPHA:1046
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Death in infancy, Developmental cataract OMIM:600559
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Retinal coloboma ORPHA:363741
Nephronophthisis 11
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... OMIM:613550
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Short Syndrome
Insulin resistance, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior em... ORPHA:3163
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma OMIM:212550
Clark-Baraitser Syndrome
Aggressive behavior, Brachycephaly, Dolichocephaly, Hyperactivity OMIM:617752
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Developmental cataract, Ataxia ORPHA:1368
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Cornea... ORPHA:93476
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g... ORPHA:785
Mevalonic Aciduria
Cataract, Nuclear cataract OMIM:610377
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardio... OMIM:261740
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Anterior plagiocephaly, Brachycephaly, Microphthalmia, Frontal bossing ORPHA:163649
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Hepatomegaly, Motor stereotypy, Splenomegaly OMIM:615637
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Hyperkalemia... OMIM:608885
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis, Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Fetal pyelectasis OMIM:619365
Reynolds Syndrome
Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Lymphope... OMIM:613471
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ... ORPHA:562639
Cerebrooculofacioskeletal Syndrome 2
Cataract, Death in childhood, Developmental cataract, Microphthalmia, Micropenis OMIM:610756
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Spastic paraparesis, Abnormal urinary acylglycine profile... ORPHA:391417
Glutathionuria
Eczematoid dermatitis, Action tremor, Tremor, Glutathionuria, Urinary incontinence, Dysdiadochoki... OMIM:231950
Papillorenal Syndrome
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Optic disc colo... OMIM:120330
Gaucher Disease, Type Iii
Depression, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:231000
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:619313
Mmep Syndrome
Microphthalmia ORPHA:3434
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Kniest Dysplasia
Aplasia/Hypoplasia of the lens, Cataract, Lens luxation ORPHA:485
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Abnormal heart morphology, Hepatic cysts, Abnorma... ORPHA:79328
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Glycosuria, Myositis, Hashimoto thyroiditis ORPHA:589
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Attrv30M Amyloidosis
Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology ORPHA:85447
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Glycosuria, Glucose intolerance, Diabetes mellitus, Impai... OMIM:617253
Warburg Micro Syndrome 3
Cataract, Microcornea, Brachycephaly, Developmental cataract, Microphthalmia, Shallow anterior ch... OMIM:614222
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Anterior lenticonus, Nephritis, Glomerular basement membr... OMIM:301050
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,... OMIM:617145
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Abnormal male external... ORPHA:95699
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Retinitis Pigmentosa 40
Cataract OMIM:613801
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Arthri... ORPHA:411536
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Irritabil... OMIM:613489
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Brachycephaly, Hyperactivity, Paroxysmal b... ORPHA:228402
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary neopterin level, Tremor, Rigidity, Hyperkinetic movements, Elevated urinary sul... OMIM:233910
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Attention deficit hyperactivity disorder, Plagiocephaly, Dolichocephaly OMIM:615433
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Cardiomyopathy, Decreased liver function, 3-Methylglutaconic aci... ORPHA:67048
Congenital Rubella Syndrome
Cataract, Splenomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Aplasia/H... ORPHA:290
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Kury-Isidor Syndrome
Brachycephaly, Attention deficit hyperactivity disorder, Frontal bossing, Astigmatism OMIM:619762
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hepatic ste... ORPHA:348
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hyperammonemia, Anemia, Pancreatitis, Neutropenia, Anorexia, Hepatomegaly, Thromboc... ORPHA:79312
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Leber Congenital Amaurosis 9
Keratoconus, Macular coloboma, Eye poking OMIM:608553
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Frontal bossing, Developmental glaucoma OMIM:206750
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function, Elevated circulating biliverdin concentration OMIM:614156
Warburg Micro Syndrome 2
Cataract, Microcornea, Brachycephaly, Developmental cataract, Microphthalmia OMIM:614225
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri... OMIM:616589
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Wilson Disease
Depression, Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic fai... ORPHA:905
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Multicystic kidney dysplasia, Abnormal right ventricle morphology, Retinal coloboma, Bi... ORPHA:500095
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Preeclampsia
Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Elevated cir... ORPHA:275555
Lymphoid Interstitial Pneumonia
Hepatomegaly, Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... ORPHA:521406
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyperbi... OMIM:614886
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Brittle Cornea Syndrome
Corneal scarring, Decreased corneal thickness, Corneal dystrophy, Corneal erosion, Keratoglobus ORPHA:90354
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Stage 5 chronic kidney disease, Hepatic ... ORPHA:79259
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Hepatic steatosis, Cryptorchidism, Enl... ORPHA:91
Warburg Micro Syndrome 4
Brachycephaly, Microcornea, Developmental cataract, Microphthalmia OMIM:615663
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Attention deficit hyperactivity disorder, Repetitive compulsi... ORPHA:401777
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:208085
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Death in childhood, Coloboma, Corneal opacity, Microphthalmia OMIM:613153
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia OMIM:615768
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Decreased carnitine level in ... OMIM:212140
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Keratitis, Brachycephaly, Sagittal cranios... OMIM:123500
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno... OMIM:610333
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Optic nerve hypoplasia, Bicoronal synostosis, Brachycephaly, Flat oc... OMIM:618736
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Decreased testicular size, Abnormality of retinal pigmentation, Cryptorchidism, Polycys... ORPHA:3085
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Keratoglobus OMIM:108145
Weill-Marchesani Syndrome 1
Cataract, Microspherophakia, Ectopia lentis, Brachycephaly, Shallow anterior chamber, Broad skull OMIM:277600
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Coloboma, Frontal bossing, Plagiocephaly OMIM:616789
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem... ORPHA:251004
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Recurrent hand flapping, Hyperammonemia, H... ORPHA:3008
Urocanic Aciduria
Gait ataxia, Urocanic aciduria, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Irritability, Poikilo... OMIM:618278
Hardikar Syndrome
Portal inflammation, Cholestasis, Hypersplenism, Hepatosplenomegaly, Hyperbilirubinemia, Cirrhosi... OMIM:301068
Spastic Paraplegia 9B, Autosomal Recessive
Cataract, Spasticity, Spastic paraplegia, Urinary retention, Pseudobulbar paralysis, Tremor, Babi... OMIM:616586
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased serum pyruvate, Agit... OMIM:619046
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Refsum Disease, Classic
Cataract, Cardiomyopathy, Retinal degeneration, Cardiomegaly, Abnormal renal physiology OMIM:266500
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Cholestasis, Decreased liver function ORPHA:570422
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Iris c... ORPHA:139471
Familial Dysautonomia
Ataxia, Abnormal pupil morphology, Renal insufficiency, Heterochromia iridis, Glomerulopathy, Abn... ORPHA:1764
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva... OMIM:607330
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Microphthalmia OMIM:251270
Saccharopinuria
Hyperlysinuria, Gait ataxia, Tremor, Cystinuria, Citrullinuria, Spastic diplegia ORPHA:3124
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Stereotypical hand wringing, Skin-picking, Aggressive behavior, Brachyce... OMIM:600430
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... OMIM:252920
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Microtriplication 11Q24.1
Keratoconus, Bruxism ORPHA:289522
Chromosome 6Pter-P24 Deletion Syndrome
Peters anomaly, Axenfeld anomaly, Posterior embryotoxon, Brachycephaly, Ocular anterior segment d... OMIM:612582
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina ORPHA:52022
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... OMIM:194380
Galactosemia I
Aminoaciduria, Galactosuria, Cataract, Decreased liver function, Elevated circulating aspartate a... OMIM:230400
Alport Syndrome
Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c... ORPHA:63
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:391
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exo... OMIM:557000
Aniridia 3
Cataract, Aniridia OMIM:617142
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Ataxia, Uric acid nep... ORPHA:411543
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Coronal craniosynostosis, Brachycephaly, Astigmatism ORPHA:2095
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Kleefstra Syndrome Due To A Point Mutation
Self-injurious behavior, Brachycephaly, Plagiocephaly, Developmental cataract ORPHA:261652
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hypoglycemia, Hyperphosphaturia, Hyper... OMIM:229600
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom... OMIM:615630
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Plagiocephaly, Frontal bossing, Aggressive behavior, Brachycephaly, Hyperactivity, Compulsive beh... OMIM:618430
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Cowden Syndrome
Abnormal penis morphology, Cataract, Abnormality of the uterus, Goiter, Endometrial carcinoma, En... ORPHA:201
Cutis Laxa, Autosomal Recessive, Type Iiia
Cataract, Brachycephaly, Corneal arcus, Frontal bossing OMIM:219150
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Attention deficit hyperactivity disorder, Brachycephaly,... OMIM:602849
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy... OMIM:308240
Ovarian Fibroma
Abnormality of the ovary, Ascites, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteri... ORPHA:314473
Hereditary Coproporphyria
Nephropathy, Dark urine, Increased urinary porphobilinogen, Porphyrinuria, Elevated urinary delta... ORPHA:79273
Thyrocerebroretinal Syndrome
Nephritis, Myoclonus, Slurred speech, Ataxia OMIM:274240
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis ORPHA:363710
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Blood group antigen abnormality, Abnormality of the ovary, A... ORPHA:199310
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Sp... ORPHA:2969
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Camptodactyly Syndrome, Guadalajara Type 1
Brachycephaly, Microcornea ORPHA:1327
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly OMIM:612247
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardio... OMIM:618652
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Intestinal lymphangiectasia, Elevated haptoglobin level, Abnormal circulating cr... OMIM:620632
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Brachycephaly, Plagiocephaly, Frontal bossing, Astigmatism OMIM:617296
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Depression, Stereotypical body rocking, Aggressive behavior, Attenti... ORPHA:293939
8Q12 Microduplication Syndrome
Brachycephaly, Attention deficit hyperactivity disorder ORPHA:228399
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Abnormal male internal genitalia morphology, Abnormal morphology of female interna... ORPHA:2138
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Plagiocephaly OMIM:617481
Intellectual Developmental Disorder, Autosomal Dominant 74
Brachycephaly, Motor tics OMIM:620688
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Iatrogenic Botulism
Diaphragmatic paralysis, Mydriasis, Urinary retention, Cerebral palsy ORPHA:254509
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He... OMIM:600649
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Spasticity, Astigmatism, Microphthalmia OMIM:619694
Pearson Syndrome
Ataxia, Cataract, Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Corneal stromal edema... ORPHA:699
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Cataract, Brachycephaly, Flat occiput OMIM:618797
Wound Botulism
Diaphragmatic paralysis, Mydriasis, Urinary retention, Cerebral palsy ORPHA:178475
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Frontal encephalocele, Microphthalmia ORPHA:1528
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Hyperactivity OMIM:615834
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Tremor ORPHA:66633
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Opacification of the corneal stroma, Polycystic ovaries ORPHA:1643
Microphthalmia, Syndromic 5
Cataract, Microcornea, Anophthalmia, Coloboma, Microphthalmia, Micropenis, Optic nerve hypoplasia OMIM:610125
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cataract, Pigmentary retinopathy, Clitoral hypertrophy, Abnormal heart morphology,... OMIM:214110
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Spinocerebellar Ataxia 42
Spastic gait, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Urinary inc... OMIM:616795
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Unilateral microphthalmos, Coloboma, Bilateral microphthalmos OMIM:619318
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Brachycephaly, Cranios... OMIM:604757
Warburg Micro Syndrome 1
Microphthalmia, Microcornea, Developmental cataract, Spastic diplegia OMIM:600118
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Dolichocephaly, Brachycephaly, Plagiocephaly, Prominent occiput OMIM:618672
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, Attention deficit hyperactivity disorder, Frontal bossing OMIM:617364
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Decre... ORPHA:158061
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Cataract, Oligosacchariduria ORPHA:3137
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Renal tu... OMIM:162000
Xk Aprosencephaly Syndrome
Polyhydramnios, Microphthalmia ORPHA:3469
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Vulto-Van Silfhout-De Vries Syndrome
Aggressive behavior, Brachycephaly, Frontal bossing OMIM:615828
Houge-Janssens Syndrome 3
Self-injurious behavior, Plagiocephaly, Megalocornea, Frontal bossing, Attention deficit hyperact... OMIM:618354
Sialidosis Type 2
Nephropathy, Ascites, Splenomegaly, Corneal opacity, Hepatomegaly ORPHA:87876
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Mucolipidosis Ii Alpha/Beta
Megalocornea, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hep... OMIM:252500
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ... ORPHA:116
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Type I diabetes mellitus, Tremor, Proteinuria, Hypertonia, Nephrotic syndrome ORPHA:1192
Myh9-Related Disease
Nephropathy, Nephritis, Presenile cataracts, Renal insufficiency, Proteinuria ORPHA:182050
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi... ORPHA:264580
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Unilambdoid synostosis OMIM:618577
Hemochromatosis, Type 4
Cataract, Cardiomyopathy, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly OMIM:606069
Norrie Disease
Self-injurious behavior, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphol... ORPHA:649
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, P... OMIM:618052
Gaucher Disease Type 1
Hypersplenism, Hepatosplenomegaly, Pancytopenia, Cirrhosis, Anorexia, Hepatomegaly, Elevated circ... ORPHA:77259
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Zonular cataract OMIM:222765
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Temtamy Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:1777
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Hypoplastic spleen ORPHA:89844
Mcleod Syndrome
Depression, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Spleno... OMIM:300842
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Brachycephaly, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Osteopathia Striata-Cranial Sclerosis Syndrome
Cataract, Facial hyperostosis, Thickened calvaria, Brachycephaly, Frontal bossing, Flat occiput ORPHA:2780
Richieri-Costa/Guion-Almeida Syndrome
Brachycephaly, Iris coloboma OMIM:268850
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly, Irritability OMIM:228000
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... OMIM:615947
Vitreoretinochoroidopathy
Microcornea, Developmental cataract, Pulverulent cataract OMIM:193220
Smith-Magenis Syndrome
Head-banging, Onychotillomania, Self-mutilation, Brachycephaly, Hyperactivity, Self hugging, Moto... OMIM:182290
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Tics, Plagiocephaly, Frontal bossing OMIM:619264
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Cataract, Cryptorchidism, Ventricular septal defect, Ambiguous genitalia,... ORPHA:2772
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... ORPHA:14
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Self-injurious behavior, Inappropriate laughter, Recurrent ha... ORPHA:72
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Microphthalmia/Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma, Mac... OMIM:615145
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circulating aspartate aminotransfera... OMIM:257200
Alagille Syndrome
Keratoconus, Abnormality of the ureter, Abnormal pupil morphology, Renal hypoplasia/aplasia, Neph... ORPHA:52
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Duane Retraction Syndrome
Blepharospasm, Microcornea, Optic disc hypoplasia, Chorioretinal coloboma, Central heterochromia,... ORPHA:233
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension... ORPHA:824
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Brachycephaly ORPHA:320385
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Brachycephaly, Hyperactivity OMIM:300958
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the upper urinary tract, Microphthalmia, Hypoplasia of penis, Abnorma... ORPHA:2547
Stevenson-Carey Syndrome
Brachycephaly, Coloboma, Microphthalmia OMIM:611961
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Microphthalmia, Hydronephrosis... OMIM:243605
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Hypospa... OMIM:612651
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly, Bile du... OMIM:603194
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin conc... ORPHA:95716
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Microphthalmia OMIM:613155
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Lissencephaly 8
Cataract, Appendicular spasticity, Microphthalmia OMIM:617255
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Chromosome 3Pter-P25 Deletion Syndrome
Trigonocephaly, Macular hypoplasia, Brachycephaly, Dolichocephaly, Flat occiput OMIM:613792
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... OMIM:618877
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Smith-Magenis Syndrome
Self-injurious behavior, Microcornea, Frontal bossing, Brachycephaly, Attention deficit hyperacti... ORPHA:819
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thr... OMIM:226990
Proteus Syndrome
Cataract, Retinal nonattachment, Long penis, Thymus hyperplasia, Central heterochromia, Neoplasm ... ORPHA:744
Foodborne Botulism
Mydriasis, Urinary retention, Cerebral palsy, Paralysis, Diaphragmatic paralysis ORPHA:228371
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Brachycephaly OMIM:615031
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Weill-Marchesani Syndrome 2
Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Brachycephaly, Iridodonesis, Shallow an... OMIM:608328
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia OMIM:128235
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract OMIM:601701
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Renal... OMIM:194072
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Glomerulopathy,... ORPHA:2348
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Hartsfield Syndrome
Intrauterine growth retardation, Encephalocele, Microphthalmia ORPHA:2117
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Angelman Syndrome
Brachycephaly, Blue irides, Hyperactivity, Paroxysmal bursts of laughter, Flat occiput OMIM:105830
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urin... ORPHA:2795
2Q32Q33 Microdeletion Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Brachycephaly ORPHA:251019
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Aggressive behavior, Brachycephaly OMIM:616083
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Bachmann-Bupp Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperbilirubinemia OMIM:619075
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Brachycephaly OMIM:309541
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Brachycephaly OMIM:614416
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Brachycephaly, Dysphagia ORPHA:70472
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Periodontitis, Hematuria, Clonus, Proximal renal tubular acidosis, Chorioretinal dys... ORPHA:534
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatocellular necrosis,... OMIM:201475
Sneddon Syndrome
Nephropathy, Chorea, Tremor, Hemiparesis ORPHA:820
Cataract 48
Cataract OMIM:618415
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Prune1-Related Neurological Syndrome
Cataract, Plagiocephaly ORPHA:544469
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, Polycystic ovari... OMIM:268020
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Astigmatism, P... OMIM:156200
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans... OMIM:216360
Isolated Atp Synthase Deficiency
Optic atrophy, Renal hypoplasia, Dilated cardiomyopathy, Cataract, Hypertrophic cardiomyopathy, H... ORPHA:254913
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529808
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Neph... OMIM:105120
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... OMIM:180500
Temtamy Syndrome
Ectopia lentis, Chorioretinal coloboma, Hypertonia, Microphthalmia, Iris coloboma, Lens luxation OMIM:218340
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Lesch-Nyhan Syndrome
Nephrocalcinosis, Spasticity, Podagra, Nephrolithiasis, Abnormality of extrapyramidal motor funct... OMIM:300322
Serotonin Syndrome
Acute kidney injury, Mydriasis, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia ORPHA:43116
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Brachycephaly, Microphthalmia, Persistent pupillary membrane, Frontal bossing OMIM:257850
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Cataract, Abnormality of the ovary, Decreased testicular size, Hypogonadism, As... OMIM:209900
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Podagra, Nephrolithiasis OMIM:300323
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Brachycephaly, Frontal bossing ORPHA:314575
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Plagiocephaly OMIM:618603
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Extramedullary hematopoiesis, Persistence of hem... ORPHA:231222
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors... ORPHA:3097
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cataract, Hydroureter, Cardiomyopathy, Sideroblastic anemi... OMIM:222300
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
4H Leukodystrophy
Cataract, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxi... ORPHA:289494
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos... OMIM:606003
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Enuresis ORPHA:289483
Knobloch Syndrome 1
Duplicated collecting system, Band keratopathy, Bifid ureter, Chorioretinal atrophy, Renal duplic... OMIM:267750
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Craniofrontonasal Dysplasia
Craniosynostosis, Brachycephaly, Plagiocephaly, Frontal bossing ORPHA:1520
Contractural Arachnodactyly, Congenital
Ectopia lentis, Scaphocephaly, Brachycephaly, Dolichocephaly, Frontal bossing OMIM:121050
Hallermann-Streiff Syndrome
Cataract, Optic disc coloboma, Chorioretinal coloboma, Frontal bossing, Thin calvarium, Scaphocep... OMIM:234100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... ORPHA:397946
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Craniofacial Dyssynostosis With Short Stature
Abnormal shape of the occiput, Brachycephaly, Frontal bossing, Brachyturricephaly OMIM:218350
Trisomy 9P
Brachycephaly, Abnormal pupil morphology ORPHA:236
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Sialidosis Type 1
Aminoaciduria, Cataract, Ataxia, Urinary excretion of sialylated oligosaccharides, Increased urin... ORPHA:812
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Trisomy 13
Cataract, Abnormality of the ureter, Aplasia/Hypoplasia of the iris, Anophthalmia, Displacement o... ORPHA:3378
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Botulism
Diaphragmatic paralysis, Mydriasis, Urinary retention, Cerebral palsy ORPHA:1267
Fucosidosis
Brachycephaly, Corneal opacity ORPHA:349
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Astigmatism, Cardiomegal... OMIM:617713
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hep... OMIM:620376
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... OMIM:185070
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly OMIM:619972
German Syndrome
Dolichocephaly, Brachycephaly, Dysphagia ORPHA:2077
Gracile Bone Dysplasia
Ascites, Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... ORPHA:381
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Brachycephaly ORPHA:352530
White-Sutton Syndrome
Self-injurious behavior, Astigmatism, Overfriendliness, Aggressive behavior, Motor stereotypy, Br... OMIM:616364
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Conjunctival icterus, Glycosuria, Renal insufficienc... ORPHA:447
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior, Brachycephaly, Optic nerve hypoplasia OMIM:618828
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Chorioretinal lacunae, Corneal opacity, M... OMIM:152950
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Lympho... ORPHA:100
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Panc... ORPHA:79083
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:300280
Free Sialic Acid Storage Disease
Iris hypopigmentation, Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome ORPHA:834
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Oculo-Palato-Cerebral Syndrome
Cataract, Spasticity, Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia ORPHA:2714
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly ORPHA:99931
Ogden Syndrome
Secundum atrial septal defect, Polycythemia, Decreased testicular size, Cryptorchidism, Patent fo... OMIM:300855
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Renal hypoplasia, Supernumerary nipple, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614376
Oculocerebrofacial Syndrome, Kaufman Type
Brachycephaly, Microcornea, Flat occiput ORPHA:2707
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Calvarial skull defect, Brachycephaly, Microphthalmia, Frontal bossing ORPHA:228390
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Tremor, Juvenile cataract, Dystonia, Bab... OMIM:300055
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Decreased urinary urate, Tetraparesis, Elevated urinary inosine level, Recurrent urina... OMIM:613179
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy... OMIM:618886
Refsum Disease
Cataract, Renal insufficiency, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Ataxia, Microphth... ORPHA:773
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Inhalational Botulism
Paralysis, Mydriasis, Urinary retention ORPHA:254504
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Brachycephaly, Turricephaly ORPHA:2145
Bardet-Biedl Syndrome 8
Brachycephaly OMIM:615985
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Mydriasis, Cerebral palsy ORPHA:230800
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Megalocornea, Coloboma, Abnormal pyramidal sign, Clonus, M... ORPHA:370959
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Coloboma, Microphthalmia, Iris transillumination defect OMIM:617306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Death in infancy, Microphthalmia, Buphthalmos, Persistent pupillary mem... OMIM:613150
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Bile duct proliferation, Anencephaly OMIM:611561
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Abnormality of the ureter, Polycystic ovaries, Renal hypoplasia/aplasia, Vent... ORPHA:1770
Pontocerebellar Hypoplasia, Type 3
Brachycephaly OMIM:608027
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat... ORPHA:91138
Ovarian Fibrothecoma
Abnormality of the ovary, Ascites, Gonadal calcification, Abnormal endometrium morphology, Perito... ORPHA:314478
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... ORPHA:53351
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Clitoral hypertrophy, Long penis, Cholestasis, Pancreatic i... OMIM:246200
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium OMIM:619339
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Brachycephaly, Turricephaly ORPHA:171839
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly ORPHA:93950
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Plagiocephaly OMIM:618725
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Frontonasal Dysplasia 3
Brachycephaly, Microphthalmia OMIM:613456
Marshall Syndrome
Cataract, Ectopia lentis, Thickened calvaria, Brachycephaly, Frontal bossing ORPHA:560
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy ORPHA:85414
Rere-Related Neurodevelopmental Syndrome
Iris coloboma, Peters anomaly, Chorioretinal coloboma, Vesicoureteral reflux, Astigmatism, Microp... ORPHA:494344
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Renal tu... ORPHA:79240
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph... ORPHA:528
Ritscher-Schinzel Syndrome 1
Brachycephaly, Coloboma, Prominent occiput OMIM:220210
3-Methylglutaconic Aciduria, Type Viib
Cataract, Zonular cataract OMIM:616271
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to growth horm... OMIM:602782
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly, Bile du... OMIM:611134
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Hypoplasia of penis, Hypospadias ORPHA:77298
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Acrofrontofacionasal Dysostosis
Brachycephaly, Brushfield spots ORPHA:1784
Pseudo-Torch Syndrome 1
Cataract, Elevated circulating hepatic transaminase concentration, Decreased liver function, Rena... OMIM:251290
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Abnormality of the uterus, Pancreatic lymphangiectasis, Vaginal atresia, Hepatos... ORPHA:1655
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pericardial effusion OMIM:614702
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:616801
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... 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
Decreased urinary urate, Spastic paraparesis, Spasticity, Cerebral palsy, Abnormal central motor ... ORPHA:760
Frontofacionasal Dysplasia
Cataract, Microcornea, Hypoplasia of the frontal bone, Brachycephaly, Microphthalmia, Iris coloboma OMIM:229400
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Cornelia De Lange Syndrome 2
Brachycephaly OMIM:300590
Zellweger Syndrome
Optic atrophy, Multicystic kidney dysplasia, Cataract, Clitoral hypertrophy, Hepatic failure, Cry... ORPHA:912
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Hepatic failure, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hep... ORPHA:228308
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Adnp Syndrome
Abnormal temper tantrums, Plagiocephaly, Oral-pharyngeal dysphagia, Trigonocephaly, Astigmatism, ... ORPHA:404448
Triploidy
Iris coloboma, Cataract, Abnormality of the gallbladder, Cryptorchidism, Ambiguous genitalia, Abn... ORPHA:3376
Acute Intermittent Porphyria
Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinogen, Renal i... ORPHA:79276
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Lig4 Syndrome
Brachycephaly, Astigmatism OMIM:606593
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... ORPHA:457077
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Ascites ORPHA:2414
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Jaundice, Conjugated hyperbilir... ORPHA:168577
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Oligohydramnios, Microphthalmia OMIM:619053
Ritscher-Schinzel Syndrome 4
Plagiocephaly, Aggressive behavior, Brachycephaly, Dysphagia, Motor stereotypy, Impulsivity OMIM:619435
Grant Syndrome
Brachycephaly, Frontal bossing ORPHA:2097
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Optic atrophy, Proximal tubulopathy, Elevated circulating hepatic tran... OMIM:614576
Pseudodiastrophic Dysplasia
Brachycephaly, Frontal bossing OMIM:264180
Congenital Disorder Of Glycosylation, Type Iit
Brachycephaly, Astigmatism OMIM:618885
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Intellectual Developmental Disorder, Autosomal Dominant 29
Self-injurious behavior, Frequent temper tantrums, Astigmatism, Aggressive behavior, Attention de... OMIM:616078
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Brachycephaly OMIM:615419
White-Sutton Syndrome
Self-injurious behavior, Iris coloboma, Astigmatism, Aggressive behavior, Brachycephaly, Hyperact... ORPHA:468678
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma, Microphthalmia OMIM:169550
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, C... ORPHA:465508
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Cholestasis, Elevated circulating... OMIM:614866
Frontonasal Dysplasia 1
Cataract, Coloboma, Microphthalmia OMIM:136760
Xeroderma Pigmentosum, Complementation Group D
Cataract, Spasticity, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Ataxia, ... OMIM:278730
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Hydronephrosis, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyel... OMIM:618060
Chopra-Amiel-Gordon Syndrome
Brachycephaly, Attention deficit hyperactivity disorder OMIM:619504
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Cataract, Recurrent pneumonia, Death in childhood, Microphthalmia OMIM:214150
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Frontal bossing OMIM:600325
Joubert Syndrome 33
Splenomegaly OMIM:617767
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Skin Creases, Congenital Symmetric Circumferential, 1
Brachycephaly, Microcornea, Microphthalmia OMIM:156610
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Cataract, Renal insufficiency, Mitral valve prolapse, Pulmonary lymphangiectasia, Hy... OMIM:247410
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Polycystic ovaries ORPHA:1580
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Porphyria, Acute Intermittent
Urinary retention, Respiratory paralysis, Paralysis, Urinary incontinence, Elevated urinary delta... OMIM:176000
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Flat occiput ORPHA:2511
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating hepatic t... ORPHA:542323
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Dolichocephaly, Brachycephaly, Plagiocephaly, Frontal bossing OMIM:619721
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Microphthalmia, Lenz Type
Cataract, Microcornea, Hypospadias, Hydroureter, Optic disc coloboma, Chorioretinal coloboma, Ren... ORPHA:568
Kleefstra Syndrome 2
Self-injurious behavior, Plagiocephaly OMIM:617768
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponat... ORPHA:100924
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Traboulsi Syndrome
Cataract, Homocystinuria, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophaki... OMIM:601552
Superficial Siderosis
Functional abnormality of the bladder, Limb ataxia, Dysmetria, Babinski sign, Progressive gait at... ORPHA:247245
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... OMIM:614921
Porphyria Variegata
Chronic kidney disease, Tetraparesis, Increased urinary porphobilinogen, Respiratory paralysis, P... ORPHA:79473
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Microcornea, Brachycephaly, Sagittal crani... OMIM:201000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... OMIM:600116
Juvenile Sialidosis Type 2
Optic atrophy, Cataract, Visceromegaly, Abnormal heart morphology, Hepatosplenomegaly, Abnormalit... ORPHA:93399
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Horseshoe kidney, Tremor, Death in infancy, Dystonia, Choreoathetosis OMIM:617664
Peutz-Jeghers Syndrome
Uterine neoplasm, Bladder polyp, Bile duct polyp, Abnormality of the ureter, Ovarian cyst, Biliar... OMIM:175200
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmun... OMIM:603909
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Attention deficit hyperactivity disorder, Neonatal hyperbilirubinemia, Hyperactivity ORPHA:73272
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Transketolase Deficiency
Increased level of ribose in urine, Cataract, Abnormal heart morphology, Patent foramen ovale, Ve... ORPHA:488618
Cornelia De Lange Syndrome 5
Brachycephaly OMIM:300882
Cranioectodermal Dysplasia 2
Portal fibrosis, Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Poly... OMIM:613610
Hypomandibular Faciocranial Dysostosis
Optic disc coloboma, Trigonocephaly, Death in infancy, Brachycephaly, Craniosynostosis ORPHA:1790
Micro Syndrome
Cataract, Microcornea, Spasticity, Abnormal localization of kidney, Retinal coloboma, Hydronephro... ORPHA:2510
Cherubism
Marcus Gunn pupil OMIM:118400
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Spasticity, Facial paralysis, Hypoplasia of the iris, Ectopia pupillae, Tetraparesis... OMIM:175780
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Buphthalmos, Primary congenital glaucoma, Rieger anomaly, Brachycephaly ORPHA:521445
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Polycystic ovaries ORPHA:79085
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Abnormality of the lower urinary tract, Retinal degen... ORPHA:391428
Lujan-Fryns Syndrome
Brachycephaly, Attention deficit hyperactivity disorder ORPHA:776
Muckle-Wells Syndrome
Nephropathy, Optic atrophy, Renal amyloidosis, Conjunctivitis, Splenomegaly, Anemia, Hepatomegaly... ORPHA:575
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Brachycephaly, Plagiocephaly OMIM:618862
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract OMIM:302350
Adenylosuccinase Deficiency
Inappropriate laughter, Self-mutilation, Aggressive behavior, Brachycephaly, Hyperactivity OMIM:103050
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Abnormal heart morphology, Decreased respo... OMIM:615873
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Martsolf Syndrome 1
Cataract, Brachycephaly, Developmental cataract, Microphthalmia OMIM:212720
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Microphthalmia OMIM:606744
Multiple Sulfatase Deficiency
Optic atrophy, Cataract, Abnormality of retinal pigmentation, Splenomegaly, Mucopolysacchariduria... ORPHA:585
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Coloboma, Abnormally large globe, Microphthalmia OMIM:615249
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm... ORPHA:1772
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly, Recurrent hand flapping, Astigmatism, Aggressive behavior, Attention deficit hyper... OMIM:619680
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:85212
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Cataract, Spasticity, Hypoplasia of the iris, Renal insuffici... OMIM:251300
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Lisch nodules, Juvenile posterior subcapsular lenticula... OMIM:101000
Neonatal Lupus Erythematosus
Hepatic failure, Dilated cardiomyopathy, Aplastic anemia, Elevated circulating hepatic transamina... ORPHA:398124
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperglycemia, Hyperin... ORPHA:79474
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract ORPHA:1010
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Depression, Attention deficit hyperactivity disorder, Abnormal circu... ORPHA:90674
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries ORPHA:435651
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Bruxism, Brachycephaly, Repetitive compulsive behavior, Dysphagia, Motor stereotypy OMIM:300260
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Abnormal temper tantrums, Plagiocephaly, Obsessive-compulsive trait, Skin-picking, Attention defi... ORPHA:500055
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinur... ORPHA:36412
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Distal Deletion 10Q
Astigmatism, Aggressive behavior, Attention deficit hyperactivity disorder, Brachycephaly, Cranio... ORPHA:96148
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Unilateral renal atrophy, Pyelonephritis, Torticollis, Renal dysplasia OMIM:314300
Cirrhotic Cardiomyopathy
Conjunctival icterus, Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertroph... ORPHA:57777
Phace Syndrome
Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens coloboma, Iris coloboma, Optic... ORPHA:42775
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Compulsive behaviors, Brachycephaly, Attention deficit hyperactivity disorder, Microphthalmia ORPHA:404440
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi... OMIM:269700
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis, Iris coloboma, Retinal coloboma ORPHA:2328
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Astigmatism, Abnormal renal morphology... OMIM:609053
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Mi... OMIM:616897
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Brachycephaly, Frontal bossing OMIM:615539
Mccune-Albright Syndrome
Renal phosphate wasting, Bone marrow hypocellularity, Precocious puberty, Hepatitis, Increased ci... ORPHA:562
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, La... OMIM:608594
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Brachycephaly, Iris coloboma, Microphthalmia ORPHA:1236
Acquired Generalized Lipodystrophy
Cardiomyopathy, Hepatic steatosis, Polycystic ovaries, Proteinuria, Cirrhosis, Hepatomegaly, Acut... ORPHA:79086
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Joubert Syndrome 37
Hydronephrosis, Oculomotor apraxia, Micropenis, Microphthalmia OMIM:619185
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Multicystic kidney dysplasia, Microphthalmia, Septo-optic dysplasia, Iris ... ORPHA:3301
Neurofaciodigitorenal Syndrome
Brachycephaly, Plagiocephaly, Corneal dystrophy ORPHA:2673
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... ORPHA:231226
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,... ORPHA:96
Recombinant Chromosome 8 Syndrome
Brachycephaly OMIM:179613
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Trigonocephaly, Scaphocephaly, Attention deficit hyperactivity disorder, Brachycephaly, Sagittal ... ORPHA:459061
Achard Syndrome
Brachycephaly, Broad skull OMIM:100700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Coloboma, Corneal opacity, Microphtha... ORPHA:2399
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Generalized dystonia, Intention tremor, Tremor, Progressive spastic quadriple... OMIM:312080
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Emotional lability, Irritability, Decreased serum zinc, Hepatomegaly OMIM:201100
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Ascites, Hyperbilirubinemia OMIM:606812
Craniodigital-Intellectual Disability Syndrome
Brachycephaly ORPHA:1514
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Dystonia-Deafness Syndrome 1
Cataract, Oculogyric crisis, Generalized dystonia, Leg dystonia OMIM:607371
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Renal magnesium wasting, Sterile pyuria... OMIM:248250
Walker-Warburg Syndrome
Cataract, Microcornea, Anophthalmia, Chorioretinal dysplasia, Corneal opacity, Microphthalmia, Hy... ORPHA:899
Cree Impaired Intellectual Development Syndrome
Brachycephaly, Coloboma OMIM:606851
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Coloboma, Corneal opacity, Microphthalmia, Lens subluxation ORPHA:85167
Classic Phenylketonuria
Cataract, Eczematoid dermatitis, Hemiplegia, Paraplegia, Tremor, Hypertonia ORPHA:79254
Alagille Syndrome 1
Cholestasis, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Cirrhosis, Atria... OMIM:118450
Baraitser-Winter Syndrome 2
Coloboma, Microphthalmia OMIM:614583
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Muenke Syndrome
Coronal craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:53271
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... OMIM:606693
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re... OMIM:265300
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Papillary renal cell carcinoma type 2, Vaginal neoplasm, Uterine leiomyosarcoma, Uterin... ORPHA:523
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Williams-Beuren Region Duplication Syndrome
Brachycephaly, Attention deficit hyperactivity disorder OMIM:609757
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Duplication of renal pelvis, Cardiomyopathy, Polysplenia... OMIM:312870
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Elevated circul... OMIM:300972
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Conju... OMIM:208500
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Nephrocalcinosis, Infection associated neutropenia, Cataract, Elevat... ORPHA:445038
Aica-Ribosiduria
Brachycephaly ORPHA:250977
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity ORPHA:2788
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis OMIM:152700
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Ascites, Abnormality of the liver, Hyperbilirubinemia, Thrombocytopenia ORPHA:464321
Hyperphosphatasia-Intellectual Disability Syndrome
Brachycephaly, Shallow anterior chamber, Plagiocephaly, Abnormal parietal bone morphology ORPHA:247262
Baraitser-Winter Syndrome 1
Micropenis, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:243310
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Brachycephaly OMIM:620240
Matthew-Wood Syndrome
Annular pancreas, Intrauterine growth retardation, Anophthalmia, Abnormal spleen morphology, Micr... ORPHA:2470
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Postural tremor, Renal insufficiency, Action tre... OMIM:254900
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic ... ORPHA:371428
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, C... OMIM:619259
9Q33.3Q34.11 Microdeletion Syndrome
Brachycephaly, Plagiocephaly, Dysphagia, Astigmatism ORPHA:495818
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Horses... ORPHA:959
Congenital Fibrosis Of Extraocular Muscles
Cataract, Abnormal pupil shape, Torticollis, Anisocoria, Optic nerve hypoplasia ORPHA:45358
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Optic disc coloboma, Ectopia pupillae, Recurrent otitis media, Corneal opacity, Microphthalmia, L... OMIM:608940
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis media, Appendicular spasticity, Hyd... OMIM:618494
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:1454
Miller Fisher Syndrome
Ataxia, Mydriasis, Anisocoria, Tetraparesis ORPHA:98919
Monosomy 18P
Brachycephaly, Microphthalmia ORPHA:1598
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Beta-Thalassemia Major
Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... ORPHA:231214
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Cerebrooculonasal Syndrome
Proboscis, Frontal bossing, Anophthalmia, Brachycephaly, Craniosynostosis, Iris coloboma, Optic n... OMIM:605627
17Q12 Microduplication Syndrome
Polyhydramnios, Microphthalmia ORPHA:261272
Subaortic Stenosis-Short Stature Syndrome
Short stature, Biliary tract abnormality, Microphthalmia ORPHA:3191
Multiple System Atrophy 1, Susceptibility To
Tremor, Iris atrophy, Rigidity, Babinski sign, Parkinsonism, Ataxia, Urinary incontinence, Bradyk... OMIM:146500
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Coloboma, Microphthalmia OMIM:167730
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis OMIM:614473
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Hepatic steatosis, Abnormal labia majora morphology ORPHA:435660
Immunodeficiency 10
Hypoplasia of the iris, Recurrent urinary tract infections, Splenomegaly, Autoimmune hemolytic an... OMIM:612783
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa... OMIM:617013
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria... ORPHA:549
Cerebrooculonasal Syndrome
Brachycephaly, Anophthalmia ORPHA:66625
Oculoskeletodental Syndrome
Renal agenesis, Splenomegaly, Cryptorchidism, Hypercalciuria, Mucopolysacchariduria, Developmenta... OMIM:618440
Facial Spasm
Anisocoria OMIM:134300
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Hyperactivity OMIM:252900
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cataract, Brachycephaly, Megalocornea OMIM:601353
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Fasciculations, Tremor, Hydronephrosis, Limb hypertonia, Exaggerated startle response OMIM:620327
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Tremor, Hematuria, Vocal ... ORPHA:94080
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hy... ORPHA:79330
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Depression, Abnormal abdomen morphology, Elevated circulating hepatic trans... OMIM:619475
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Hydronephrosis, Microphthalmia, Sclerocornea, Pelvic kidney OMIM:613001
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Microphthalmia OMIM:602501
Alpha-Mannosidosis, Adult Form
Cataract, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Optic disc pallor ORPHA:309288
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Brachyturricephaly, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia OMIM:300863
Lessel-Kreienkamp Syndrome
Plagiocephaly, Scaphocephaly, Aggressive behavior, Attention deficit hyperactivity disorder, Fron... OMIM:619149
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... OMIM:257220
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Spasticity, Recurrent pneumonia, Hydronephrosis, Microphthalmia, Hypospadias OMIM:616449
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Increased circulating thyroglobulin con... ORPHA:90673
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst, Uterine leiomyoma OMIM:617100
Trichothiodystrophy 3, Photosensitive
Cataract, Increased circulating IgA level, Developmental cataract, Microphthalmia OMIM:616395
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Keratoconus OMIM:242150
Kapur-Toriello Syndrome
Cataract, Abnormality of the urinary system, Retinal coloboma, Microphthalmia, Micropenis, Iris c... OMIM:244300
Meckel Syndrome
Accessory spleen, Optic atrophy, Multicystic kidney dysplasia, Microcornea, Cataract, Pancreatic ... ORPHA:564
Apert Syndrome
Brachyturricephaly, Corneal erosion, Frontal bossing, Acrobrachycephaly, Cloverleaf skull ORPHA:87
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Microphthalmia, Edema, Umbilical hernia ORPHA:2505
3P25.3 Microdeletion Syndrome
Brachycephaly, Attention deficit hyperactivity disorder, Motor stereotypy, Microphthalmia ORPHA:435638
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Sandhoff Disease
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... OMIM:268800
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ... ORPHA:99750
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Tremor, Babinski sign, Abnormal pyramidal sign, Developmental cataract, Urinary inc... ORPHA:447753
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Microphthalmia OMIM:300887
Momo Syndrome
Brachycephaly, Frontal bossing, Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Microphtha... OMIM:617914
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenomegal... OMIM:610199
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Abnormal circulating interleukin concentration, Band keratopathy, Increased circulating... ORPHA:85410
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Adams-Oliver Syndrome 2
Limb hypertonia, Developmental cataract, Microphthalmia OMIM:614219
8P11.2 Deletion Syndrome
Iris coloboma, Microcornea, Hypogonadism, Azoospermia, Splenomegaly, Mitral valve prolapse, Crypt... ORPHA:251066
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Eczematoid dermatitis, Microphthalmia, Corneal opacity, Scleroco... ORPHA:284160
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Craniosynostosis, Brachycephaly, Hyperactivity ORPHA:254346
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Posterior subcapsular cataract, Cerulean cataract, Anterior cortical cataract, Posterio... ORPHA:67036
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
Hoxha-Aliu Syndrome
Brachycephaly, Astigmatism OMIM:620662
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Intellectual Developmental Disorder, Autosomal Dominant 66
Brachycephaly, Plagiocephaly OMIM:619910
Momo Syndrome
Brachycephaly, Frontal bossing, Retinal coloboma OMIM:157980
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Aniridia, Tremor, Hematur... ORPHA:29072
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly OMIM:618541
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Brachycephaly, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Wieacker-Wolff Syndrome, Female-Restricted
Brachycephaly, Dysphagia OMIM:301041
Joubert Syndrome 2
Nephronophthisis, Optic disc coloboma, Chorioretinal coloboma, Renal insufficiency, Renal cyst, O... OMIM:608091
X-Linked Intellectual Disability Due To Gria3 Mutations
Aggressive behavior, Brachycephaly, Self-mutilation ORPHA:364028
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... OMIM:210250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cataract, Death in childhood, Tremor, 3-Methylglutaconic aciduria, Neonatal death, Ataxia, Hyposp... OMIM:614052
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Trichinellosis
Hemiplegia, Skin rash, Hemiparesis, Conjunctival hyperemia, Babinski sign, Anisocoria, Conjunctiv... ORPHA:863
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Brachycephaly OMIM:618142
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, Cataract, 3-Methylglutaconic aciduria, Tremor, Neonatal death, Death i... OMIM:617248
Schimmelpenning-Feuerstein-Mims Syndrome
Cranial asymmetry, Coloboma, Corneal opacity OMIM:163200
Fetal Trimethadione Syndrome
Brachycephaly ORPHA:1913
Coffin-Siris Syndrome 6
Plagiocephaly, Frontal bossing, Attention deficit hyperactivity disorder, Tics, Motor stereotypy OMIM:617808
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Hemiplegia, Dark urine, Renal i... ORPHA:93552
Achondrogenesis, Type Ii
Brachycephaly, Frontal bossing, Stillbirth OMIM:200610
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Astigmatism, Aggressive behavior, Polyphagia, Brachycephaly, Hyperactivi... ORPHA:96121
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Cataract, Brachycephaly, Astigmatism OMIM:300968
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Hydronephrosis, Erythroderma, Microphthalmia, Neonatal hypoglycemia ORPHA:35173
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Cataract, Plagiocephaly, Aggressive behavior OMIM:619833
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Cryptorchidism, Ventricular ... OMIM:235255
Hydrolethalus
Polyhydramnios, Anencephaly, Anophthalmia, Microphthalmia ORPHA:2189
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Myoclonus, Tremor, Proteinuria, Glomerular sclerosis, Recurre... OMIM:607426
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis, Polycystic ovaries OMIM:604367
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M... ORPHA:90793
Linear Nevus Sebaceus Syndrome
Iris coloboma, Plagiocephaly, Prominent occiput, Biparietal narrowing, Microphthalmia, Frontal bo... ORPHA:2612
Acute Zonal Occult Outer Retinopathy
Marcus Gunn pupil ORPHA:284454
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Nephrocalcinosis, Cholelithiasis, Pigmentary retinopathy, Female hypogonadism, Male hyp... OMIM:240300
Mirage Syndrome
Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen OMIM:617053
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Megalocornea, Aniridia, Anophthalmia, Dolichocephaly, Corneal dystrophy ORPHA:1101
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Facial paralysis, Head tremor, Gait ataxia, Anisocoria... ORPHA:99949
Brain Dopamine-Serotonin Vesicular Transport Disease
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy... ORPHA:352649
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:613658
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Methylmalonic aciduria, Dysmetria OMIM:615578
Frontonasal Dysplasia 2
Parietal foramina, Calvarial skull defect, Anterior plagiocephaly, Brachycephaly, Microphthalmia,... OMIM:613451
Duane-Radial Ray Syndrome
Cataract, Renal hypoplasia, Optic disc hypoplasia, Renal agenesis, Retinal coloboma, Horseshoe ki... OMIM:607323
Tetanus
Elevated urinary norepinephrine level, Tremor, Rigidity, Opisthotonus, Hypertonia, Spasticity of ... ORPHA:3299
3Q29 Microduplication Syndrome
Cataract, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma ORPHA:251038
Moebius Syndrome
Clumsiness, Microphthalmia, Micropenis, Poor coordination, Dysdiadochokinesis OMIM:157900
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Chops Syndrome
Optic atrophy, Cataract, Horseshoe kidney, Vesicoureteral reflux, Splenomegaly, Patent foramen ov... OMIM:616368
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Curry-Jones Syndrome
Iris coloboma, Optic disc coloboma, Microphthalmia ORPHA:1553
Scheie Syndrome
Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Corneal opacity ORPHA:93474
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Scalp-Ear-Nipple Syndrome
Cataract, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Renal insufficiency, Devel... OMIM:181270
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Diabetes mellitus, Glycosuria, Hyperglycemia OMIM:600001
Aymé-Gripp Syndrome
Cataract, Plagiocephaly, Megalocornea, Brachycephaly, Developmental cataract, Craniosynostosis ORPHA:1272
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Ectopia lentis, Microphthalmia, Iris coloboma ORPHA:2712
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Gaucher Disease, Type I
Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Macul... OMIM:230800
Congenital Disorder Of Deglycosylation 1
Oral-pharyngeal dysphagia, Brachycephaly, Impaired oropharyngeal swallow response, Corneal opacit... OMIM:615273
Multicentric Osteolysis, Nodulosis, And Arthropathy
Brachycephaly, Frontal bossing, Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Congenital Disorder Of Glycosylation, Type Il
Brachycephaly, Frontal bossing OMIM:608776
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Brachycephaly, Flat occiput OMIM:617452
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Renal agenesis, Abnormal vagina morphology ORPHA:247768
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme... OMIM:616028
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy... ORPHA:39041
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hyperkinetic movements, Hypercalciuria, Myoc... ORPHA:73224
Syndromic Diarrhea
Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia, ... ORPHA:84064
Mucopolysaccharidosis Type 3
Optic atrophy, Pigmentary retinopathy, Recurrent tonsillitis, Cataract, Heparan sulfate excretion... ORPHA:581
Gorlin Syndrome
Cataract, Brachycephaly, Iris coloboma, Frontal bossing ORPHA:377
Rothmund-Thomson Syndrome, Type 2
Cataract, Microcornea, Zonular cataract OMIM:268400
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Acrofrontofacionasal Dysostosis 1
Brachycephaly, Iris atrophy, Microphthalmia OMIM:201180
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Cranial asymmetry, Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest... OMIM:615895
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Brachycephaly, Sagittal... OMIM:603116
Achalasia-Addisonianism-Alacrima Syndrome
Babinski sign, Anisocoria, Ataxia OMIM:231550
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Mild short stature, Microphthalmia OMIM:614833
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lymph... OMIM:617591
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brachyturricephaly, Opacification of the corneal stroma, Death in childhood, Brushfield... OMIM:214100
Heme Oxygenase 1 Deficiency
Chemosis, Hematuria, Nephritis, Proteinuria OMIM:614034
Alternating Hemiplegia Of Childhood
Mydriasis, Episodic hemiplegia, Tetraparesis, Chorea, Tremor, Rigidity, Abnormal pyramidal sign, ... ORPHA:2131
Myoclonic-Astatic Epilepsy
Microphthalmia, Abnormal pyramidal sign, Tremor, Ataxia ORPHA:1942
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Cooper-Jabs Syndrome
Brachycephaly, Frontal bossing ORPHA:1488
Microphthalmia, Syndromic 3
Cataract, Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Coloboma, Micropenis, Microp... OMIM:206900
Hyperparathyroidism, Neonatal Severe
Polydipsia, Splenomegaly, Anemia, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia OMIM:239200
Solitary Median Maxillary Central Incisor
Cyclopia, Coloboma, Anophthalmia, Microphthalmia OMIM:147250
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Plagiocephaly, Frontal bossing, Astigmatism, Aggressive behavior, Dolic... ORPHA:457279
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Dysphagia, Prolonged neonatal ... OMIM:607625
Cerebellar Ataxia-Hypogonadism Syndrome
Brachycephaly ORPHA:1173
Aica-Ribosiduria Due To Atic Deficiency
Brachycephaly, Frontal bossing OMIM:608688
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:2163
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Brachycephaly, Motor stereotypy OMIM:610253
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fet... OMIM:619351
Larsen-Like Syndrome
Brachycephaly, Frontal bossing OMIM:608545
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Aspiration pneumonia, Action tremor, Abnormal pyramidal sign, Clonus, A... ORPHA:99027
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Brachycephaly, Flat occiput ORPHA:505237
Bickerstaff Brainstem Encephalitis
Pneumonia, Mydriasis, Facial paralysis, Tetraparesis, Babinski sign, Abnormal pyramidal sign, Tet... ORPHA:79138
Joubert Syndrome 14
Microphthalmia, Renal cyst, Coloboma, Ataxia OMIM:614424
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Antley-Bixler Syndrome
Craniosynostosis, Brachycephaly, Frontal bossing, Turricephaly ORPHA:83
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria, Poor motor coordination, Chorea, Limb dystonia, Tremor... ORPHA:25
Cocaine Intoxication
Mydriasis, Acute kidney injury, Involuntary movements, Tremor, Hematuria, Proteinuria, Glomerulon... ORPHA:90068
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
Parkinson Disease, Late-Onset
Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia, Urinary urgency OMIM:168600
Scrub Typhus
Renal insufficiency, Skin rash, Tremor, Infectious encephalitis, Myocarditis, Anterior uveitis ORPHA:83317
Neuroocular Syndrome 1
Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Attention deficit ... OMIM:619539
Phosphoribosylaminoimidazole Carboxylase Deficiency
Brachycephaly, Neonatal death OMIM:619859
Alpha-Mannosidosis, Infantile Form
Cataract, Cranial hyperostosis, Astigmatism, Thickened calvaria, Brachycephaly, Corneal opacity, ... ORPHA:309282
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Gapo Syndrome
Keratoconus, Plagiocephaly, Megalocornea, Shallow anterior chamber, Frontal bossing OMIM:230740
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Conjunctival... ORPHA:240071
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... ORPHA:79277
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Depression, Hepatic failure, Abnormal circulating lipid concentration, Decreased ... ORPHA:77293
Pde4D Haploinsufficiency Syndrome
Thickened calvaria, Brachycephaly, Frontal bossing ORPHA:439822
Chromosome 13Q33-Q34 Deletion Syndrome
Trigonocephaly, Aggressive behavior, Brachycephaly, Hyperactivity, Microphthalmia OMIM:619148
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia ORPHA:163966
De Barsy Syndrome
Cataract, Brachycephaly, Corneal opacity ORPHA:2962
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Retinal coloboma, Astigmatism, Microphthalmia, Renal dysplasia OMIM:618571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Death in childhood, Death in infancy, Remnants of the hyaloid vascular ... OMIM:614643
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca, Chronic otitis media, Cerebral palsy ORPHA:178478
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive pro... OMIM:617388
Gillessen-Kaesbach-Nishimura Syndrome
Brachycephaly OMIM:263210
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... ORPHA:158048
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Increased urinary 11-deoxycorticosterone level, Clitoral hypertrophy, Long pe... ORPHA:90795
Chromosome 2P16.1-P15 Deletion Syndrome
Brachycephaly, Attention deficit hyperactivity disorder, Optic nerve hypoplasia OMIM:612513
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Den Hoed-De Boer-Voisin Syndrome
Stereotypical hand wringing, Death in adolescence, Brachycephaly, Dysphagia, Motor stereotypy, Ag... OMIM:619229
Degcags Syndrome
Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Hyperbiliru... OMIM:619488
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo... ORPHA:781
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Thrombocytopenia, Anemia ORPHA:163979
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness OMIM:618175
Cowden Syndrome 1
Varicocele, Cataract, Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Hydrocele testis OMIM:158350
Beck-Fahrner Syndrome
Brachycephaly, Attention deficit hyperactivity disorder OMIM:618798
Exudative Vitreoretinopathy 2, X-Linked
Shallow anterior chamber, Microphthalmia OMIM:305390
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract, Nephrocalcinosis OMIM:146200
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala... OMIM:619534
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Death in childhood, Gout, Hyperuricosuria, Ataxia, Uric acid n... OMIM:300661
Garg-Mishra Progeroid Syndrome
Short stature, Postnatal growth retardation, Microvesicular hepatic steatosis, Microphthalmia OMIM:620601
Mesomelic Dysplasia, Nievergelt Type
Dolichocephaly, Brachycephaly ORPHA:2633
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Bilateral microphthalmos ORPHA:77299
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Retinitis Pigmentosa
Keratoconus, Posterior subcapsular cataract ORPHA:791
19P13.13 Microdeletion Syndrome
Brachycephaly, Attention deficit hyperactivity disorder, Dolichocephaly, Optic nerve hypoplasia ORPHA:357001
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency, Tremor, Oculomotor apraxia, Ataxia, Iris coloboma ORPHA:220497
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegal... OMIM:612541
Lacrimoauriculodentodigital Syndrome
Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Keratoconjun... ORPHA:2363
Coats Disease
Leukocoria OMIM:300216
Multiple Sulfatase Deficiency
Splenomegaly, Retinal degeneration, Mucopolysacchariduria, Corneal opacity, Hepatomegaly OMIM:272200
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, Torsion dyst... OMIM:128100
Short Syndrome
Cataract, Megalocornea, Rieger anomaly, Astigmatism, Ovarian cyst OMIM:269880
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Vesicoureteral reflux, Hydronephrosis, Micropenis, Anisocoria, Pelvic kidney OMIM:618653
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Renal ins... OMIM:188400
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Decreased circulating IgG level, Death in infancy, Keratoconjunctivitis si... OMIM:601675
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Cataract, Renal artery stenosis... OMIM:617913
Congenital Disorder Of Glycosylation, Type Iia
Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Brachycephaly, Motor stereotypy OMIM:212066
Cockayne Syndrome Type 3
Lentiglobus, Unilateral renal agenesis, Renal hypoplasia, Cataract, Hydroureter, Urinary retentio... ORPHA:90324
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopeni... OMIM:608013
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... ORPHA:30
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Frontal bossing OMIM:618330
Gapo Syndrome
Keratoconus, Frontal bossing ORPHA:2067
Galloway-Mowat Syndrome 3
Spasticity, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular ... OMIM:617729
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Pigmentary retinopathy, Cataract, Peters anomaly, Clitoral hypertrophy, Histiocyto... OMIM:309801
Cat Eye Syndrome
Renal agenesis, Chorioretinal coloboma, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, ... OMIM:115470
X-Linked Intellectual Disability, Wilson Type
Brachycephaly ORPHA:85290
Bardet-Biedl Syndrome
Chronic kidney disease, Hydrometrocolpos, Hepatic steatosis, Cryptorchidism, Polycystic ovaries, ... ORPHA:110
Adams-Oliver Syndrome
Ascites, Portal hypertension, Encephalocele, Congenital hepatic fibrosis, Cirrhosis, Microphthalmia ORPHA:974
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Tremor, Hematuria, Protei... ORPHA:276621
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Giant cell hepatitis, Type II diabetes mellitus, Tremor, Ataxia ORPHA:79095
Mosaic Variegated Aneuploidy Syndrome 1
Cataract, Brachycephaly OMIM:257300
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Craniosynostosis, Brachycephaly, Frontal bossing, Developmental glaucoma OMIM:245600
Marfan Syndrome
Cataract, Microspherophakia, Ectopia lentis, Hypoplasia of the iris, Astigmatism, Dolichocephaly OMIM:154700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Kaufman Oculocerebrofacial Syndrome
Brachycephaly, Microcornea, Astigmatism OMIM:244450
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Bifid ureter, Vesicoureteral reflux, Retinal deta... ORPHA:1571
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Anisocoria ORPHA:90658
Revesz Syndrome
Megalocornea, Leukocoria, Hypertonia, Ataxia, Poor coordination OMIM:268130
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Aggressive behavior, Brachycephaly OMIM:619244
Yellow Fever
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating aspar... ORPHA:99829
Summitt Syndrome
Craniosynostosis, Plagiocephaly ORPHA:3210
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90033
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Stage 5 chronic kidney disease, In... ORPHA:89938
Costello Syndrome
Keratoconus ORPHA:3071
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Microphthalmia OMIM:616538
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Recurrent otitis media, Multiple bladder diverticula, Microphthalmia ORPHA:2728
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Punctate cataract OMIM:607812
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Brachycephaly, Attention deficit hyperactivity disorder, Ectopia pupillae OMIM:618223
Hallermann-Streiff Syndrome
Brachycephaly, Frontal bossing, Developmental cataract, Microphthalmia ORPHA:2108
Cockayne Syndrome
Lentiglobus, Spasticity, Action tremor, Ataxia, Urinary incontinence, Nephrotic syndrome, Microph... ORPHA:191
ERI1-related disease
Trigonocephaly, Brachycephaly, Frontal bossing OMIM:608739
Down Syndrome
Keratoconus, Brachycephaly, Cataract ORPHA:870
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto... OMIM:616084
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Frank-Ter Haar Syndrome
Megalocornea, Brachycephaly, Buphthalmos, Developmental glaucoma, Flat occiput OMIM:249420
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elev... ORPHA:308552
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... OMIM:610717
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Sutural cataract OMIM:201470
Familial Exudative Vitreoretinopathy
Cataract, Microphthalmia ORPHA:891
Al Kaissi Syndrome
Brachycephaly OMIM:617694
Noonan Syndrome 13
Plagiocephaly, Head-banging, Aggressive behavior, Attention deficit hyperactivity disorder, Blue ... OMIM:619087
2P15P16.1 Microdeletion Syndrome
Brachycephaly, Attention deficit hyperactivity disorder, Dysphagia, Optic nerve hypoplasia ORPHA:261349
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Mosaic Trisomy 9
Intrauterine growth retardation, Oligohydramnios, Spina bifida, Microphthalmia, Polyhydramnios, A... ORPHA:99776
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Cowden Syndrome 6
Cataract, Varicocele, Goiter, Ovarian cyst, Hydrocele testis OMIM:615109
Acrodysostosis 1 With Or Without Hormone Resistance
Brachycephaly, Blue irides, Calvarial hyperostosis OMIM:101800
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, H... ORPHA:280365
Kleefstra Syndrome
Self-injurious behavior, Self-mutilation, Aggressive behavior, Brachycephaly, Motor stereotypy ORPHA:261494
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Renal hypoplasia, Severe B lymphocytopenia, Cataract, Elevate... OMIM:620005
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachycephaly, Biparietal narrowing, Frontal bossing ORPHA:1292
Mixed Connective Tissue Disease
Nephropathy, Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Keratoconjunctivitis sicca, L... ORPHA:809
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Cataract, Anterior lenticonus, Thickened glomerular basement membrane, Glomerular ba... OMIM:308940
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
49,Xxxxy Syndrome
Brachycephaly, Attention deficit hyperactivity disorder, Overfriendliness ORPHA:96264
9P13 Microdeletion Syndrome
Bruxism, Attention deficit hyperactivity disorder, Brachycephaly ORPHA:324313
Humeroradial Synostosis
Brachycephaly OMIM:236400
Band Heterotopia
Plagiocephaly OMIM:600348
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Tremor, Rigidity, Parkins... ORPHA:48818
Cowden Syndrome 5
Cataract, Hydrocele testis, Ovarian cyst, Goiter OMIM:615108
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Spasticity, Anisocoria, Ataxia OMIM:615510
1Q21.1 Microdeletion Syndrome
Cataract, Vesicoureteral reflux, Hydronephrosis, Microphthalmia, Iris coloboma ORPHA:250989
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior synechiae of the anterior chamber, Scleritis, Tubulointerstitial nephritis, Aminoacidur... ORPHA:91500
Fucosidosis
Oligosacchariduria, Tortuosity of conjunctival vessels, Splenomegaly, Cardiomegaly, Hepatomegaly,... OMIM:230000
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
Cataract, Anophthalmia, Microphthalmia, Hypoplasia of penis, Iris coloboma ORPHA:2250
3Q29 Microdeletion Syndrome
Horseshoe kidney, Cataract, Hypospadias, Microphthalmia ORPHA:65286
Neurogenic Arthrogryposis Multiplex Congenita
Scaphocephaly, Plagiocephaly ORPHA:1143
Arachnoid Cyst
Mydriasis, Tetraparesis, Urinary bladder sphincter dysfunction, Hemiparesis, Paraparesis, Urinary... ORPHA:2356
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Hor... ORPHA:2092
Cornelia De Lange Syndrome 1
Self-injurious behavior, Microcornea, Optic disc coloboma, Astigmatism, Brachycephaly OMIM:122470
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly ORPHA:94066
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Ovarian cyst OMIM:610475
Acrofrontofacionasal Dysostosis 2
Brachycephaly OMIM:239710
Glycogen Storage Disease Ii
Urinary incontinence, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Bartter Syndrome, Type 2, Antenatal
Nephrocalcinosis, Hyperchloriduria, Abnormally large globe, Renal juxtaglomerular cell hypertroph... OMIM:241200
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal... OMIM:137440
Sponastrime Dysplasia
Cataract, Microcoria, Frontal bossing, Congenital aphakia ORPHA:93357
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Brachycephaly OMIM:615398
Trichohepatoneurodevelopmental Syndrome
Brachycephaly, Plagiocephaly, Astigmatism OMIM:618268
Trisomy 20P
Dolichocephaly, Brachycephaly, Plagiocephaly, Frontal bossing ORPHA:261318
Raine Syndrome
Plagiocephaly, Brachyturricephaly, Death in infancy, Neonatal death, Brachycephaly OMIM:259775
Ritscher-Schinzel Syndrome 3
Death in infancy, Chorioretinal coloboma, Microphthalmia OMIM:619135
Orofaciodigital Syndrome I
Hepatic fibrosis, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic... OMIM:311200
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Neurogenic bladder, Ataxia OMIM:618527
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Frontal bossing OMIM:207410
48,Xxxy Syndrome
Brachycephaly, Attention deficit hyperactivity disorder ORPHA:96263
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Spasticity, Recurrent pneumonia, Male urethral meatus stenosis, Hydronephrosis, Deve... ORPHA:464738
Treacher-Collins Syndrome
Cataract, Frontal bossing, Brachycephaly, Microphthalmia, Iris coloboma ORPHA:861
Heart And Brain Malformation Syndrome
Polyhydramnios, Growth delay, Microphthalmia OMIM:616920
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Brachycephaly ORPHA:562528
Meckel Syndrome 14
Hepatic fibrosis, Occipital encephalocele, Oligohydramnios, Increased nuchal translucency, Microp... OMIM:619879
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Posterior plagiocephaly, Fixated interests, Frontal bossing, Scaphocepha... OMIM:620330
Pelvis-Shoulder Dysplasia
Microcornea, Bilateral microphthalmos, Retinal coloboma, Hydronephrosis, Iris coloboma ORPHA:2839
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Trigonocephaly, Plagiocephaly, Craniosynostosis, Decreased calvarial ossification OMIM:618265
Oculodentodigital Dysplasia
Cataract, Microcornea, Spasticity, Tetraparesis, Neurogenic bladder, Paraparesis, Ataxia, Microph... OMIM:164200
Malan Overgrowth Syndrome
Scaphocephaly, Plagiocephaly, Frontal bossing, Optic disc hypoplasia ORPHA:420179
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Neutrophilia OMIM:612852
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Plagiocephaly, Frontal bossing, Frequent temper tantrums, Brachycephaly,... OMIM:619512
Lig4 Syndrome
Brachycephaly, Biparietal narrowing ORPHA:99812
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Mycophenolate Mofetil Embryopathy
Iris coloboma, Ectopic kidney, Chorioretinal coloboma, Microphthalmia ORPHA:268249
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Trisomy 18
Cataract, Microcornea, Hydronephrosis, Abnormality of the upper urinary tract, Hypertonia, Microp... ORPHA:3380
Pentasomy X
Plagiocephaly ORPHA:11
Cockayne Syndrome B
Microcornea, Hypoplasia of the iris, Renal insufficiency, Death in childhood, Tremor, Microphthal... OMIM:133540
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly OMIM:614563
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Familial Mediterranean Fever
Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Peritoni... OMIM:249100
Ayme-Gripp Syndrome
Craniofacial asymmetry, Brachycephaly, Developmental cataract OMIM:601088
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Abnormal iris ... ORPHA:2614
Trichohepatoenteric Syndrome 1
Galactosuria, Hepatic fibrosis, Hepatic failure, Tetralogy of Fallot, Cholestasis, Splenomegaly, ... OMIM:222470
Fetal Alcohol Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1915
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Craniosynostosis, Brachycephaly, Astigmatism ORPHA:369837
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
X-Linked Intellectual Disability, Nascimento Type
Compulsive behaviors, Aggressive behavior, Neonatal hyperbilirubinemia, Neutropenia ORPHA:163956
Proboscis Lateralis
Cataract, Microcornea, Unilateral renal agenesis, Duplication of renal pelvis, Chorioretinal colo... ORPHA:141099
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233710
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Hyperactivity OMIM:618089
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Cataract, Erythroderma, Microphthalmia OMIM:302960
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ectopic kidney, Microphthalmia, Pelv... OMIM:610832
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f... OMIM:101400
Acrodysostosis
Brachycephaly, Frontal bossing ORPHA:950
Pfeiffer Syndrome Type 1
Brachycephaly, Bicoronal synostosis ORPHA:93258
Marden-Walker Syndrome
Micropenis, Renal hypoplasia, Hypospadias, Microphthalmia OMIM:248700
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract, Micropenis, Microphthalmia OMIM:614230
Amyloidosis, Hereditary Systemic 1
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cataract, Plagiocephaly, Dysphagia OMIM:615471
Plasminogen Deficiency, Type I
Conjunctivitis, Nephritis, Periodontitis, Nephrolithiasis OMIM:217090
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:234050
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Brachycephaly OMIM:619995
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Motor stereotypy, Hyperactivity OMIM:617751
Holoprosencephaly
Spasticity, Abnormality of the urinary system, Chorioretinal coloboma, Hypoglycemia, Chorea, Anop... ORPHA:2162
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri... ORPHA:77261
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Splenomegaly, Nephroblastoma OMIM:612918
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly OMIM:613849
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Corneal opacity, Microphthal... ORPHA:2059
Frontorhiny
Cataract, Iris coloboma, Microphthalmia ORPHA:391474
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect OMIM:617022
Chime Syndrome
Brachycephaly, Retinal coloboma, Corneal opacity ORPHA:3474
Hamamy Syndrome
Craniosynostosis, Brachycephaly, Neck pterygia OMIM:611174
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Bartter Syndrome, Type 1, Antenatal
Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased... OMIM:601678
Apert Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachyturricephaly, Brachycephaly, Sagitta... OMIM:101200
Developmental And Epileptic Encephalopathy 65
Plagiocephaly OMIM:618008
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Frontal bossing, Overfriendliness, Attention deficit hyperactivity disorder, Motor... OMIM:619293
Simple Cryoglobulinemia
Nephritis, Viral hepatitis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Membran... ORPHA:91139
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly ORPHA:77300
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis ORPHA:722
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... OMIM:233690
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Skull asymmetry OMIM:614701
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries ORPHA:1227
Fanconi Anemia, Complementation Group S
Short stature, Microphthalmia OMIM:617883
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Elevated circul... OMIM:620565
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Corneal scarring, Stage 5 chronic kidney disease... OMIM:309000
Craniofrontonasal Syndrome
Axillary pterygium, Coronal craniosynostosis, Brachycephaly, Frontal bossing OMIM:304110
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cataract, Ataxia OMIM:610651
Arterial Tortuosity Syndrome
Keratoconus, Craniosynostosis, Keratoglobus ORPHA:3342
Osteogenesis Imperfecta, Type Xx
Brachycephaly, Plagiocephaly OMIM:618644
Williams Syndrome
Megalocornea, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Polycystic ovarie... ORPHA:904
Vacterl With Hydrocephalus
Intrauterine growth retardation, Anophthalmia, Spina bifida, Microphthalmia, Polyhydramnios ORPHA:3412
Roberts Syndrome
Cataract, Brachycephaly, Craniosynostosis, Microphthalmia ORPHA:3103
Chromosome 17P13.1 Deletion Syndrome
Brachycephaly, Plagiocephaly, Turricephaly OMIM:613776
20Q11.2 Microduplication Syndrome
Trigonocephaly, Brachycephaly ORPHA:363659
Listeriosis
Pneumonia, Acute kidney injury, Arteritis, Osteomyelitis, Pyelonephritis, Myoclonus, Cholecystiti... ORPHA:533
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Micropht... OMIM:153400
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Unilateral microphthalmos, Iris coloboma OMIM:618874
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Coloboma, Corneal opacity, Microphthalmia, Buphthalmos, R... OMIM:236670
Microphthalmia, Syndromic 9
Renal hypoplasia, Bilateral microphthalmos, Horseshoe kidney, Anophthalmia, Neonatal death, Hydro... OMIM:601186
Common Variable Immunodeficiency
Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S... ORPHA:1572
Fanconi Anemia, Complementation Group F
Pneumonia, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney OMIM:603467
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Seborrheic dermatitis, Acne OMIM:167100
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Renal cyst, Microphthalmia, Micropenis, Opacification o... ORPHA:1692
Gray Platelet Syndrome
Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia OMIM:139090
Jacobsen Syndrome
Iris coloboma, Microcornea, Spasticity, Chorioretinal coloboma, Macular hypoplasia, Microphthalmi... OMIM:147791
Arterial Tortuosity Syndrome
Keratoconus, Astigmatism OMIM:208050
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the urinary system physiology, Keratoconjunctivitis, Pr... ORPHA:2552
Renpenning Syndrome 1
Cataract, Death in childhood, Brachycephaly, Coloboma, Microphthalmia OMIM:309500
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Decreased calvarial ossification, Brachycephaly, Microphthalmia, Frontal bossing OMIM:617925
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Cataract, Frontal bossing, Prominent occiput, Nuclear pulverulent catara... OMIM:612474
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Kleefstra Syndrome Due To 9Q34 Microdeletion
Brachycephaly, Flat occiput ORPHA:96147
Alkuraya-Kucinskas Syndrome
Cataract, Plagiocephaly OMIM:617822
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Keratoconjunct... OMIM:269200
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Acute hepatic failure, Ascites, Leukocytosis, Splenomegaly, Orchit... ORPHA:342
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Tremor, Proteinuria, Microscopic hematuria, Hemolytic-uremic syndrome OMIM:274150
Incontinentia Pigmenti
Cataract, Spasticity, Keratitis, Skin rash, Hemiplegia/hemiparesis, Infectious encephalitis, Corn... ORPHA:464
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve... OMIM:260920
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Splenic cyst, Patent foramen ovale, Cryptorchidism, Cardiomegaly, ... OMIM:620371
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Frontal bossing ORPHA:85199
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Microphthalmia, Micropenis, Cyclopia OMIM:264480
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Oligohydramnios, Microphthalmia OMIM:251230
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Growth delay, Anophthalmia, Microphthalmia OMIM:206920
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly OMIM:618731
Bohring-Opitz Syndrome
Optic atrophy, Cholelithiasis, Annular pancreas, Urinary retention, Nephroblastoma, Cardiomegaly,... ORPHA:97297
6Q25 Microdeletion Syndrome
Plagiocephaly ORPHA:251056
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly OMIM:618821
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Spasticity, Ectopia pupillae, Recurrent otitis media, Axenfeld anom... ORPHA:261552
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Postnatal growth retardation, Severe intrauterine growth retardation OMIM:241410
X-Linked Intellectual Disability, Armfield Type
Cataract, Brachycephaly ORPHA:85276
Thrombocytopenia-Absent Radius Syndrome
Cataract, Brachycephaly, Death in infancy, Corneal opacity OMIM:274000
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Cryptorchidism OMIM:618143
Intellectual Developmental Disorder, Autosomal Dominant 53
Brachycephaly, Posterior plagiocephaly OMIM:617798
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy OMIM:208000
Microphthalmia, Syndromic 2
Aortic valve stenosis, Iris coloboma, Microcornea, Septate vagina, Cryptorchidism, Mitral valve p... OMIM:300166
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal... OMIM:146510
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Motor stereotypy ORPHA:500159
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachycephaly OMIM:614800
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachyturricephaly, Oxycephaly, Bicoronal ... OMIM:218600
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:610759
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Plagiocephaly, Violent behavior, Chorioretinal coloboma, Retinal coloboma, Brachycephaly, Frontal... OMIM:280000
Atelis Syndrome 2
Hyperinsulinemia, Dysmetria, Developmental cataract, Microphthalmia, Remnants of the hyaloid vasc... OMIM:620185
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... ORPHA:96191
Osteogenesis Imperfecta, Type Xi
Brachycephaly OMIM:610968
1P36 Deletion Syndrome
Self-injurious behavior, Cataract, Ocular albinism, Frontal bossing, Polyphagia, Brachycephaly, D... ORPHA:1606
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Microcornea, Plagiocephaly, Anophthalmia, Brachycephaly, Coloboma, M... OMIM:607932
Saethre-Chotzen Syndrome
Craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:794
Baller-Gerold Syndrome
Brachycephaly, Frontal bossing, Brachyturricephaly ORPHA:1225
Porphyria, Congenital Erythropoietic
Cholelithiasis, Conjunctivitis, Corneal scarring, Reduced erythrocyte uroporphyrinogen III cosynt... OMIM:263700
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Iris coloboma, Hypoplasia of the blad... OMIM:249000
Manitoba Oculotrichoanal Syndrome
Corneopalpebral synechiae, Anophthalmia, Microphthalmia OMIM:248450
Sweeney-Cox Syndrome
Brachycephaly, Flat occiput OMIM:617746
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Acute pancreatitis OMIM:151660
Witteveen-Kolk Syndrome
Cataract, Iris coloboma, Poor motor coordination, Eczematoid dermatitis, Microphallus, Male ureth... OMIM:613406
Fanconi Anemia, Complementation Group A
Renal agenesis, Horseshoe kidney, Abnormal renal morphology, Microphthalmia, Duplicated collectin... OMIM:227650
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Cerebrooculofacioskeletal Syndrome 4
Short stature, Intrauterine growth retardation, Bilateral microphthalmos OMIM:610758
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Self-injurious behavior, Plagiocephaly, Frontal bossing ORPHA:371364
Steinfeld Syndrome
Microphthalmia, Iris coloboma, Unilateral renal dysplasia, Retinal coloboma OMIM:184705
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Conjunctival telangiectasia, Progressive g... OMIM:606002
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy ORPHA:268
Dysostosis, Stanescu Type
Brachycephaly ORPHA:1798
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Cortical cataract ORPHA:637
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Oxycephaly, Trigonocephaly, Scaphocephaly,... OMIM:614188
Mowat-Wilson Syndrome
Cataract, Microcornea, Hypospadias, Chorioretinal coloboma, Ectopia pupillae, Recurrent otitis me... OMIM:235730
Lysinuric Protein Intolerance
Hemophagocytosis, Increased circulating ferritin concentration, Leukopenia, Splenomegaly, Hyperam... OMIM:222700
Ataxia-Telangiectasia
Bronchiectasis, Dysdiadochokinesis, Glucose intolerance, Myoclonus, Intention tremor, Tremor, Con... OMIM:208900
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Aplasia of the thymus, Right ventri... OMIM:620186
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Fanconi Anemia, Complementation Group E
Renal agenesis, Horseshoe kidney, Microphthalmia, Duplicated collecting system, Ectopic kidney OMIM:600901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Cataract, Exaggerated startle response OMIM:253800
Tetraamelia Syndrome 1
Cataract, Absent external genitalia, Renal agenesis, Adrenal gland agenesis, Urethral atresia, Va... OMIM:273395
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Iris coloboma, Renal hypoplasia, Renal agenesis, Retinal coloboma, Horseshoe kidney, Coloboma, Mi... ORPHA:508498
Cleidocranial Dysplasia
Brachycephaly, Frontal bossing ORPHA:1452
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume OMIM:153670
Pfeiffer Syndrome
Coronal craniosynostosis, Brachyturricephaly, Cloverleaf skull OMIM:101600
Brucellosis
Liver abscess, Intrarenal abscess, Hypersplenism, Abnormality of the liver, Leukopenia, Splenomeg... ORPHA:1304
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Renal cyst, Renal hypoplasia, Stillbirth OMIM:616300
Estrogen Resistance
Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Incontinentia Pigmenti
Cataract, Spasticity, Keratitis, Hypoplasia of the fovea, Microphthalmia, Maculopapular exanthema... OMIM:308300
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Brachycephaly, Microcornea, Abnormal anterior chamber morphology, Astigmatism OMIM:601776
Dubowitz Syndrome
Iris coloboma, Eczematoid dermatitis, Hypoplasia of the iris, Megalocornea, Otitis media, Microph... OMIM:223370
Acromelic Frontonasal Dysplasia
Brachycephaly ORPHA:1827
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Phace Association
Optic nerve hypoplasia, Developmental cataract, Microphthalmia OMIM:606519
Scalp-Ear-Nipple Syndrome
Cataract, Type I diabetes mellitus, Duplication of renal pelvis, Recurrent urinary tract infectio... ORPHA:2036
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Biliary cirrhosis, Elevated ... ORPHA:99413
Mosaic Monosomy X
Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Biliary cirrhosis, Elevated ... ORPHA:99228
Monosomy X
Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Biliary cirrhosis, Elevated ... ORPHA:99226
Turner Syndrome
Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Biliary cirrhosis, Elevated ... ORPHA:881
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly ORPHA:2988
Choreoacanthocytosis
Acanthocytosis, Emotional lability, Hair-pulling, Elevated circulating alanine aminotransferase c... ORPHA:2388
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Hy... ORPHA:51
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Exocrine pancreatic insufficiency, A... OMIM:243800
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... ORPHA:1359
Peters Plus Syndrome
Cataract, Microcornea, Peters anomaly, Frontal bossing, Brachycephaly, Corneal opacity, Iris colo... ORPHA:709
Trichothiodystrophy
Microcornea, Spasticity, Eczematoid dermatitis, Bilateral microphthalmos, Gait ataxia, Astigmatis... ORPHA:33364
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
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concentration, Pancreatitis, H... ORPHA:565612
Dyskeratosis Congenita, X-Linked
Optic atrophy, Bone marrow hypocellularity, Cataract, Horseshoe kidney, Pterygium, Pancytopenia, ... OMIM:305000
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly, Motor stereotypy, Overfriendliness OMIM:616579
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Unilateral renal hypoplasia, Ureteropelvic junc... ORPHA:2729
Elsahy-Waters Syndrome
Cataract, Brachycephaly, Megalocornea OMIM:211380
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Brachycephaly ORPHA:456312
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal temper tantrums, Brachycephaly, Corneal opacity ORPHA:2072
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical... ORPHA:50918
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Brachycephaly, Attention deficit hyperactivity disorder, Craniosynostosis, Self-mutilation OMIM:213980
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ... OMIM:306400
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Bosma Arhinia Microphthalmia Syndrome
Cataract, Coloboma, Microphthalmia, Micropenis, Hypospadias OMIM:603457
Robinow-Sorauf Syndrome
Craniosynostosis, Plagiocephaly, Pansynostosis OMIM:180750
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Peters anomaly, Vesicoureteral reflux, Renal cyst, Coloboma, Microphthalmia, Spastic tetraparesis... OMIM:616975
Joubert Syndrome 1
Plagiocephaly, Optic disc coloboma, Chorioretinal coloboma, Self-mutilation, Aggressive behavior,... OMIM:213300
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi... ORPHA:199351
Townes-Brocks Syndrome
Abnormal vagina morphology, Cryptorchidism, Atrial septal defect, Rectoperineal fistula, Abnormal... ORPHA:857
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thickened calvaria, Brachycephaly OMIM:309583
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Plagiocephaly, Frontal bossing, Hyperactivity OMIM:619720
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Splenomegaly, Vaginal atresia,... OMIM:617088
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Intellectual Disability-Strabismus Syndrome
Aggressive behavior, Plagiocephaly, Hyperactivity, Impulsivity ORPHA:363528
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Plagiocephaly, Frontal bossing, Death in childhood, Self-mutilation, Attention deficit hyperactiv... 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
Renal agenesis, Hydronephrosis, Renal cyst, Stillbirth, Microphthalmia, Ureteral duplication, Opa... OMIM:229850
Cousin Syndrome
Hydronephrosis, Microcornea, Microphthalmia OMIM:260660
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... ORPHA:1677
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Esop... ORPHA:2538
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Microphthalmia OMIM:300952
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsuline... OMIM:203800
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Microphthalmia OMIM:612530
Chromosome 1P36 Deletion Syndrome, Distal
Cataract, Optic disc coloboma, Frontal bossing, Oppositional defiant disorder, Self-mutilation, A... OMIM:607872
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Bruxism, Agitation, Self-mutilation, Stereotypical hand wringing, Attention deficit hyperactivity... OMIM:619950
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Fg Syndrome Type 1
Plagiocephaly, Prominent occiput, Attention deficit hyperactivity disorder, Compulsive behaviors,... ORPHA:93932
Loeys-Dietz Syndrome 5
Dolichocephaly, Brachycephaly OMIM:615582
Cartilage-Hair Hypoplasia
Brachycephaly, Aplasia/Hypoplasia affecting the eye ORPHA:175
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca, Neonatal death OMIM:615709
Intellectual Developmental Disorder, Autosomal Dominant 64
Attention deficit hyperactivity disorder, Plagiocephaly OMIM:619188
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cataract, Spasticity, Erysipelas, Anophthalmia, Rigidity, Hypertonia, Chorioretinal dysplasia, Mi... ORPHA:2526
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ov... ORPHA:64
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Anemia, Hyperprotei... ORPHA:29073
Cohen Syndrome
Chorioretinal dystrophy, Iris coloboma, Microphthalmia ORPHA:193
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal pyra... OMIM:234200
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract ORPHA:50814
Retinoblastoma
Heterochromia iridis, Leukocoria, Hypopyon, Uveitis ORPHA:790
Cartilage-Hair Hypoplasia
Brachycephaly OMIM:250250
Fanconi Anemia, Complementation Group C
Renal agenesis, Horseshoe kidney, Microphthalmia, Duplicated collecting system, Ectopic kidney OMIM:227645
7Q31 Microdeletion Syndrome
Abnormal temper tantrums, Plagiocephaly, Dysphagia, Hyperactivity ORPHA:251061
2Q31.1 Microdeletion Syndrome
Coloboma, Iris coloboma, Optic disc coloboma, Microphthalmia ORPHA:251014
Knobloch Syndrome 2
Anterior cortical cataract OMIM:618458
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Oligohydramnios, Microphthalmia ORPHA:364577
Acromelic Frontonasal Dysostosis
Brachycephaly, Parietal foramina, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Mosaic Variegated Aneuploidy Syndrome
Growth delay, Ascites, Intrauterine growth retardation, Increased nuchal translucency, Microphtha... ORPHA:1052
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal localization of kidney, Renal hypoplasia/aplasia, Microphthalmia, Cyclopia, Hypospadias,... ORPHA:2166
Distal Deletion 12Q
Obsessive-compulsive trait, Self-mutilation, Brachycephaly, Hyperactivity, Frontal bossing ORPHA:96149
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Prolonged neonatal jaundice, Hyperbilirubinemia OMIM:210710
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Renal hypoplasia/aplasia, Microphthalmia, Abnormal localization of kidney, Iris coloboma ORPHA:3186
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Pica, Plagiocephaly, Prominent occiput OMIM:617360
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Microcornea OMIM:225400
Holoprosencephaly 7
Bilateral microphthalmos, Frontal bossing, Parietal bossing, Cranial asymmetry, Microphthalmia, I... OMIM:610828
Pituitary Apoplexy
Mydriasis, Hypoglycemia ORPHA:95613
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis, Microphthalmia OMIM:272950
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Brachyturricephaly, Self-mutilation, Repetitive compulsive behavior, Self-biting, Motor stereotypy ORPHA:522077
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Plagiocephaly, Astigmatism OMIM:618548
Yunis-Varon Syndrome
Cataract, Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Crypt... ORPHA:3472
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Doors Syndrome
Cataract, Prominent occiput, Anterior plagiocephaly, Brachycephaly, Sagittal craniosynostosis, Fr... ORPHA:79500
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Spasticity, Abnormal renal collecting system morphology, ... ORPHA:468631
Monosomy 9P
Trigonocephaly, Brachycephaly, Calvarial skull defect, Microphthalmia ORPHA:261112
Houge-Janssens Syndrome 2
Plagiocephaly OMIM:616362
Abnormal Hair, Joint Laxity, And Developmental Delay
Aggressive behavior, Plagiocephaly, Impulsivity OMIM:261990
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Renal duplication, Ectopic kidney... OMIM:227646
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration OMIM:218700
Zygomycosis
Nephritis, Hepatitis, Fasciitis, Renal insufficiency, Infectious encephalitis, Chemosis, Pustule,... ORPHA:73263
Blau Syndrome
Nephropathy, Cataract, Keratitis, Abnormality of the liver, Stage 5 chronic kidney disease, Clear... ORPHA:90340
Fanconi Anemia
Cataract, Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Ren... ORPHA:84
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Parotitis, Microcytic anemia, Punctate o... OMIM:256040
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Dihydropyrimidinase Deficiency
Plagiocephaly, Hyperactivity OMIM:222748
Osteogenesis Imperfecta
Brachycephaly, Prominent occiput, Dysphagia, Corneal opacity ORPHA:666
Hand-Foot-Genital Syndrome
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... OMIM:140000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Spasticity, Megalocornea, Myoclonus, Hypoplasia of the retina, Coloboma, Microphthalmia... OMIM:253280
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Brachycephaly, Frontal bossing OMIM:616728
Aspartylglucosaminuria
Thickened calvaria, Cataract, Brachycephaly OMIM:208400
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Brachycephaly, Anophthalmia ORPHA:264200
Wolf-Hirschhorn Syndrome
Hypospadias, Rieger anomaly, Iris coloboma, Ectopia pupillae OMIM:194190
Roberts-Sc Phocomelia Syndrome
Cataract, Stillbirth, Brachycephaly, Coloboma, Corneal opacity, Microphthalmia, Craniosynostosis,... OMIM:268300
Fontaine Progeroid Syndrome
Coronal craniosynostosis, Death in infancy, Neonatal death, Turricephaly, Brachycephaly, Micropht... OMIM:612289
Coffin-Siris Syndrome 1
Plagiocephaly, Astigmatism, Aggressive behavior, Brachycephaly, Compulsive behaviors, Frontal bos... OMIM:135900
Cornelia De Lange Syndrome
Cataract, Microcornea, Brachycephaly, Attention deficit hyperactivity disorder, Compulsive behaviors ORPHA:199
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly ORPHA:2062
Chromosome 15Q11.2 Deletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Plagiocephaly, Motor stereotypy OMIM:615656
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Brachycephaly, Flat occiput ORPHA:2211
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Osteoporosis-Pseudoglioma Syndrome
Cataract, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia OMIM:259770
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Brachycephaly, Plagiocephaly OMIM:301072
Bartsocas-Papas Syndrome 1
Axillary pterygium, Popliteal pterygium, Pterygium, Ectopic kidney, Microphthalmia, Micropenis, O... OMIM:263650
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Microphthalmia OMIM:127000
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Corneal stromal edema, Corneal opacity OMIM:601812
Down Syndrome
Brachycephaly, Brushfield spots OMIM:190685
Shprintzen-Goldberg Craniosynostosis Syndrome
Craniosynostosis, Frontal bossing, Brachyturricephaly, Dolichocephaly OMIM:182212
Monosomy 9Q22.3
Cataract, Nephroblastoma, Microphthalmia ORPHA:77301
Wiedemann-Rautenstrauch Syndrome
Cataract, Frontal bossing, Parietal bossing, Brachycephaly, Dysphagia OMIM:264090
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Trigonocephaly, Brachycephaly, Hyperactivity, Craniosynostosis, Motor stereotypy OMIM:309590
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elev... ORPHA:365
Kbg Syndrome
Brachycephaly, Attention deficit hyperactivity disorder OMIM:148050
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Maturity-onset diabetes of the young, Cerebral palsy, Tremor, Parkinsonism, Hy... ORPHA:1578
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Plagiocephaly, Motor stereotypy, Flat occiput, Optic nerve hypoplasia ORPHA:300570
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... OMIM:300967
Curry-Jones Syndrome
Iris coloboma, Microphthalmia OMIM:601707
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Opacification of the corneal stroma ORPHA:79280
Parkinson Disease 20, Early-Onset
Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia OMIM:615530
Noonan Syndrome With Multiple Lentigines
Brachycephaly ORPHA:500
Distal Deletion 3P
Brachycephaly ORPHA:1620
Aicardi Syndrome
Spasticity, Optic disc coloboma, Chorioretinal coloboma, Hemiplegia/hemiparesis, Hypertonia, Micr... ORPHA:50
Basal Cell Nevus Syndrome 1
Cataract, Iris coloboma, Microphthalmia OMIM:109400
Chromosome 13Q14 Deletion Syndrome
Micropenis, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:613884
22Q11.2 Deletion Syndrome
Acne, Cataract, Renal hypoplasia, Vesicoureteral reflux, Corneal neovascularization, Posterior em... ORPHA:567
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Retinal coloboma, Plagiocephaly, Optic nerve hypoplasia OMIM:300749
Plague
Mydriasis, Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Conjunctiv... ORPHA:707
Fibrous Dysplasia Of Bone
Precocious puberty in females, Ovarian cyst, Hyperpituitarism, Elevated circulating growth hormon... ORPHA:249
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Microphthalmia, Anophthalmia, Chorioretinal dysplasia, Posterior embry... ORPHA:2556
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal... ORPHA:391641
Sarcoidosis, Susceptibility To, 1
Mediastinal lymphadenopathy, Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Hypercalciuria... OMIM:181000
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Horseshoe kidney, Cryp... OMIM:201750
Monosomy 13Q14
Cataract, Iris coloboma, Microphthalmia ORPHA:1587
Fanconi Anemia, Complementation Group L
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Microphthalmia OMIM:614083
Primrose Syndrome
Posterior polar cataract, Self-injurious behavior, Aggressive behavior, Attention deficit hyperac... OMIM:259050
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Abnormal fear-induced behavior, Emotional lability OMIM:219090
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Horseshoe kidney, Micropenis, Torticollis, Microphthalmia, Antecubital ptery... OMIM:609945
Duplication Of The Pituitary Gland
Brachyturricephaly, Self-mutilation ORPHA:314621
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Medullary nephroca... ORPHA:51608
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Plagiocephaly, Anterior plagiocephaly, Left unicoronal synostosis OMIM:614749
Turnpenny-Fry Syndrome
Brachycephaly, Attention deficit hyperactivity disorder, Plagiocephaly, Frontal bossing OMIM:618371
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, Abnormality iris morphology ORPHA:91387
Bifid Nose With Or Without Anorectal And Renal Anomalies
Brachycephaly OMIM:608980
Ohdo Syndrome, X-Linked
Micropenis, Microphthalmia OMIM:300895
Galloway-Mowat Syndrome 4
Plagiocephaly OMIM:617730
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri... ORPHA:75565
Neu-Laxova Syndrome 1
Generalized edema, Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbili... OMIM:256520
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bruxism, Coloboma, Craniosynostosis, Plagiocephaly ORPHA:453499
Autosomal Recessive Faciodigitogenital Syndrome
Brachycephaly, Frontal bossing ORPHA:1974
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Paraparesis, Pancreatitis, Sinusitis ORPHA:449427
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Craniosynostosis, Microcornea, Plagiocephaly, Frontal bossing ORPHA:536467
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Hypospadias, Ureterocele, Microphthalmia OMIM:616734
Charge Syndrome
Chorioretinal coloboma, Horseshoe kidney, Vesicoureteral reflux, Anophthalmia, Hydronephrosis, Co... ORPHA:138
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly OMIM:605282
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Plagiocephaly, Motor stereotypy, Dysphagia ORPHA:496641
X-Linked Intellectual Disability, Snyder Type
Brachycephaly ORPHA:3063
Aicardi Syndrome
Cataract, Recurrent pneumonia, Optic disc coloboma, Chorioretinal lacunae, Microphthalmia OMIM:304050
Developmental And Epileptic Encephalopathy 84
Plagiocephaly OMIM:618792
Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... OMIM:612716
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
Thickened calvaria, Brachycephaly, Plagiocephaly ORPHA:2785
Microphthalmia With Limb Anomalies
Horseshoe kidney, True anophthalmia, Death in infancy, Microphthalmia ORPHA:1106
Anauxetic Dysplasia 3
Plagiocephaly OMIM:618853
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cataract, Brachycephaly, Astigmatism ORPHA:480880
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Craniosynostosis, Plagiocephaly ORPHA:457193
Vascular Ehlers-Danlos Syndrome
Keratoconus, Periodontitis, Cystocele, Abnormal pupil morphology, Bladder diverticulum, Osteoarth... ORPHA:286
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Attention deficit hyperactivity disorder, Plagiocephaly OMIM:619227
Mend Syndrome
Cataract, Limb hypertonia, Microphthalmia ORPHA:401973
Focal Dermal Hypoplasia
Ectopia lentis, Chorioretinal coloboma, Horseshoe kidney, Bifid ureter, Aniridia, Anophthalmia, H... OMIM:305600
Pfeiffer Syndrome Type 3
Brachyturricephaly ORPHA:93260
Branchioskeletogenital Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly ORPHA:1299
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly ORPHA:2063
Multiple Pterygium-Malignant Hyperthermia Syndrome
Dolichocephaly, Plagiocephaly ORPHA:2215
Craniotubular Dysplasia, Ikegawa Type
Phthisis bulbi, Mydriasis OMIM:619727
Retinoblastoma
Leukocoria OMIM:180200
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachycephaly OMIM:263520
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Plagiocephaly, Frontal bossing OMIM:617193
Congenital Myopathy 13
Brachycephaly OMIM:255995
Intellectual Developmental Disorder, Autosomal Dominant 58
Plagiocephaly OMIM:618106
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Frontal bossing, Bruxism, Stereotypical body rocking, Brachycephaly, Dolichocephaly, Dysphagia, I... OMIM:619503
Carpenter Syndrome 2
Oxycephaly, Trigonocephaly, Brachycephaly, Craniosynostosis, Frontal bossing OMIM:614976
Faciodigitogenital Syndrome, Autosomal Recessive
Brachycephaly OMIM:227330
Myhre Syndrome
Intrauterine growth retardation, Birth length less than 3rd percentile, Microphthalmia, Pericardi... OMIM:139210
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Brachycephaly, Neonatal death OMIM:265380
Microphthalmia, Syndromic 1
Hypospadias, Microcornea, Renal hypoplasia, Hydroureter, Optic disc coloboma, Chorioretinal colob... OMIM:309800
Isolated Arrhinia
Microphthalmia ORPHA:1134
Holoprosencephaly 1
Micropenis, Cyclopia, Hypoglycemia, Microphthalmia OMIM:236100
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Oligohydramnios, Microphthalmia OMIM:608670
Arboleda-Tham Syndrome
Plagiocephaly, Frontal bossing, Astigmatism, Motor stereotypy, Craniosynostosis, Conjunctivitis, ... OMIM:616268
Hunter-Macdonald Syndrome
Brachycephaly OMIM:611962
Charge Syndrome
Cataract, Renal hypoplasia, Renal agenesis, Retinal coloboma, Horseshoe kidney, Unilateral microp... OMIM:214800
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Cataract, Plagiocephaly ORPHA:3042
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Microphthalmia ORPHA:306542
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Plagiocephaly, Turricephaly OMIM:620224
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Plagiocephaly, Frontal bossing, Turricephaly OMIM:613603
Hydrolethalus Syndrome 1
Accessory spleen, Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Anencephaly OMIM:236680
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Postnatal growth retardation, Intrauterine growth retardation, Short st... 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
Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract... ORPHA:90349
Au-Kline Syndrome
Plagiocephaly, Dolichocephaly, Attention deficit hyperactivity disorder, Sagittal craniosynostosi... OMIM:616580
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly ORPHA:2916
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Opitz-Kaveggia Syndrome
Attention deficit hyperactivity disorder, Plagiocephaly, Frontal bossing OMIM:305450
Branchiooculofacial Syndrome
Cataract, Iris coloboma, Renal agenesis, Retinal coloboma, Anophthalmia, Renal cyst, Microphthalm... OMIM:113620
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst... ORPHA:572333
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Cataract, Multicystic kidney dysplasia, Hypospadias, Spasticity, Retinal coloboma, ... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Spasticity, Recurrent otitis media, Axenfeld anomaly, Chordee, Abno... ORPHA:2152
Fraser Syndrome
Abnormality of the urinary system, Anophthalmia, Death in infancy, Renal hypoplasia/aplasia, Uret... ORPHA:2052
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum, Developmental cataract, Corneal ... ORPHA:90348
Fraser Syndrome 1
Renal hypoplasia, Bilateral microphthalmos, Anophthalmia, Renal hypoplasia/aplasia, Corneal opaci... OMIM:219000
Holoprosencephaly 2
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Cyclopia, 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
Anophthalmia, Microphthalmia, Short stature, Occipital meningocele, Optic nerve hypoplasia OMIM:610829
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Plagiocephaly, Hyperactivity, Optic nerve hypoplasia ORPHA:457284
Specc1L-Related Hypertelorism Syndrome
Brachycephaly ORPHA:1519
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Brachycephaly OMIM:610442
Chilton-Okur-Chung Neurodevelopmental Syndrome
Self-injurious behavior, Posterior plagiocephaly, Plagiocephaly, Frontal bossing, Aggressive beha... OMIM:619841
Viss Syndrome
Dolichocephaly, Brachycephaly, Dysphagia, Frontal bossing OMIM:619472
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Plagiocephaly, Head-banging, Attention deficit hyperactivity disorder, Sagittal craniosynostosis,... OMIM:620455
Chromosome 14Q11-Q22 Deletion Syndrome
Plagiocephaly OMIM:613457
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Branchial cyst, Bilateral microphthalmos, Exocrine pancr... ORPHA:508488
Wiedemann-Rautenstrauch Syndrome
Cataract, Optic disc hypoplasia, Thickened calvaria, Corneal opacity, Cranial asymmetry, Frontal ... 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
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Cleidocranial Dysplasia 2
Plagiocephaly OMIM:620099
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus OMIM:130050
Pallister-Hall Syndrome
Umbilical hernia, Intrauterine growth retardation, Oligohydramnios, Microphthalmia, Short stature ORPHA:672
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia 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, Pseudobulbar paralysis, Thickened calvaria, Aggressive behavior, Frontal bossing ORPHA:466791
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr... OMIM:164210
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Plagiocephaly ORPHA:1521
Faundes-Banka Syndrome
Plagiocephaly, Dysphagia, Frontal bossing OMIM:619376
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277
Trichorhinophalangeal Syndrome, Type Ii
Plagiocephaly, Astigmatism, Skull asymmetry OMIM:150230
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Dolichocephaly, Plagiocephaly, Frontal bossing OMIM:619480
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... OMIM:182250
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Plagiocephaly, Frontal bossing, Miscarriage ORPHA:96334
6Q Terminal Deletion Syndrome
Dolichocephaly, Plagiocephaly ORPHA:75857
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Aggressive behavior, Plagiocephaly 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 Sex Life Stage
Spleen - MPATH pathological process term hyperplasia Mafem1(IMPC)Mbp HET Early adult
Spleen - MPATH pathological process term hyperplasia Mafem1(IMPC)Mbp HET Late adult
Lymph node - MPATH pathological process term hyperplasia Mafem1(IMPC)Mbp HET Late adult
Lymph node - MPATH pathological entity term lymphoid hyperplasia Mafem1(IMPC)Mbp HET Late adult
Spleen - MPATH pathological entity term lymphoid hyperplasia Mafem1(IMPC)Mbp HET Late adult
Lymph node - MPATH pathological process term hyperplasia Mafem1(IMPC)Mbp HET Early 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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Mafem1(IMPC)Mbp Deletion Mice, Tissue

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