Gene Summary

transformation related protein 63 regulated 1
5430420C16Rik,  Tprg

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 eye morphology Tprg1em1(IMPC)Mbp HOM Early adult 0.00
enlarged gallbladder Tprg1em1(IMPC)Mbp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Tprg1em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Tprg1em1(IMPC)Mbp HOM Early adult 0.00
abnormal gallbladder morphology Tprg1em1(IMPC)Mbp HOM 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.


XRay Images Whole Body Dorso Ventral

34 Images


XRay Images Whole Body Lateral Orientation

11 Images

Human diseases caused by Tprg1 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.

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

The table below shows human diseases predicted to be associated to Tprg1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Protoporphyria, Erythropoietic, X-Linked
Elevated circulating hepatic transaminase concentration, Cholelithiasis OMIM:300752
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Splenomegaly, Cholelithiasis OMIM:224100
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly OMIM:605479
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Splenomegaly, Pigment gallstones, Cholecystitis OMIM:613470
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Gombo Syndrome
Microphthalmia OMIM:233270
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholecystitis, Jaundice, Splenomegaly, Cholelithiasis OMIM:235700
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Spherocytosis, Type 1
Jaundice, Splenomegaly, Cholelithiasis OMIM:182900
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Cholecystitis OMIM:266200
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Hepatomegaly, Hepatitis, Splenomegaly, Cholelithiasis ORPHA:848
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia ORPHA:35612
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Neonatal death, Anophthalmia OMIM:615524
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis OMIM:194380
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Hepatomegaly, Neonatal death, Cryptorchidism OMIM:613730
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H... ORPHA:209902
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Ascites, Absent gallbladde... OMIM:615710
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Cholelithiasis, ... ORPHA:231222
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple... ORPHA:3166
Congenital Toxoplasmosis
Microphthalmia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... ORPHA:858
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis OMIM:160900
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis OMIM:232800
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent... OMIM:618805
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr... ORPHA:171
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Cholelithiasis, Biliary tract obstruction, Splenic infarction, Portal hy... ORPHA:77259
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly, Cardiomegaly OMIM:603903
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev... OMIM:619662
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97278
Jaundice, Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Hypersplenism ORPHA:846
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatic failure OMIM:614886
Meckel Syndrome, Type 6
Bile duct proliferation, Cystic liver disease, Absent gallbladder, Hepatic cysts, Hepatic fibrosis OMIM:612284
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Glycogen Storage Disease Xii
Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating alanine aminotransferase concentrati... OMIM:611881
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis OMIM:619273
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis OMIM:620646
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97261
Hereditary Spherocytosis
Jaundice, Splenomegaly, Cholelithiasis, Hepatomegaly ORPHA:822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Cholecystitis OMIM:615512
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Congenital Rubella Syndrome
Microphthalmia, Jaundice, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the iris ORPHA:290
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Cryptorchidism, Cholelithiasis OMIM:300534
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Hepatomegaly, Splenomegaly OMIM:615085
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Cholelithiasis, Asplenia OMIM:240300
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
Pierpont Syndrome
Microphthalmia, Cryptorchidism ORPHA:487825
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology ORPHA:512
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Intermittent jaundice, Splenomegaly, Cholelithiasis ORPHA:3202
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Cofs Syndrome
Microphthalmia ORPHA:1466
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Splenomegaly, Cholelithiasis ORPHA:288
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... OMIM:208540
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cryptorchidism OMIM:601794
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Microphthalmia ORPHA:3191
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Jaundice, Hepatomegaly ORPHA:234
Pierpont Syndrome
Microphthalmia, Cryptorchidism OMIM:602342
Warburg Micro Syndrome 1
Microphthalmia, Cryptorchidism OMIM:600118
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Cholelithiasis ORPHA:464738
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cryptorchidism ORPHA:363741
Sickle Cell Anemia
Jaundice, Cholelithiasis, Splenic infarction, Abnormality of the spleen, Pigment gallstones ORPHA:232
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Steinfeld Syndrome
Absent gallbladder, Microphthalmia OMIM:184705
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Hepatomegaly, Cholelithiasis, Hypoplastic nipples, Exocrine pancreatic ... OMIM:618268
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Decreased testicular size, Neonatal death, Cryptorchidism ORPHA:85284
Bilobate gallbladder, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase con... OMIM:607330
Meckel Syndrome, Type 8
Microphthalmia, Enlarged kidney, Anophthalmia OMIM:613885
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly OMIM:619053
Cat-Eye Syndrome
Microphthalmia ORPHA:195
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Joubert Syndrome 37
Decreased testicular size, Microphthalmia, Hepatomegaly, Cryptorchidism OMIM:619185
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple... ORPHA:2470
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Cholelithiasis OMIM:301066
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Microphthalmia, Bilateral cryptorchidism OMIM:618652
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Porphyria, Congenital Erythropoietic
Jaundice, Splenomegaly, Cholelithiasis, Hepatomegaly OMIM:263700
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Temtamy Syndrome
Microphthalmia ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Microphthalmia, Neonatal death OMIM:617925
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Lissencephaly 8
Microphthalmia OMIM:617255
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc... ORPHA:562639
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... OMIM:267010
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Left ventricular hypertrophy OMIM:613153
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Elevated circulating alanine aminotransferase concentration, Pancreatic aplasia, Neonatal death, ... OMIM:618500
Congenital Fibrinogen Deficiency
Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventr... ORPHA:335
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Ascites, Asplenia, Hypoplastic spleen OMIM:602361
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Microphthalmia ORPHA:3186
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism OMIM:214150
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Bohring-Opitz Syndrome
Cardiomegaly, Annular pancreas, Cholelithiasis ORPHA:97297
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Decreased pineal volume OMIM:301108
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Elevated circulating hepatic transaminase concentration OMIM:612379
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:3378
Abnormality of the gallbladder, Hepatomegaly, Aplasia/Hypoplasia affecting the eye, Cryptorchidis... ORPHA:3376
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ... OMIM:147250
Trisomy 8P
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Ascites, Biliary tract neoplasm, Cholecystitis,... ORPHA:100086
22Q11.2 Deletion Syndrome
Microphthalmia, Hypoparathyroidism, Cholelithiasis, Hypoplasia of the thymus, Splenomegaly, Crypt... ORPHA:567
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:139471
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:2189
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Splenomegaly, Neoplasm of the ... ORPHA:77293
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Fanconi Anemia, Complementation Group S
Ovarian carcinoma, Microphthalmia, Ovarian neoplasm OMIM:617883
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Cholelithiasis ORPHA:909
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Cryptorchidism ORPHA:83617
Gaucher Disease
Cirrhosis, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenic rupture, Splenomegaly, Hepat... ORPHA:355
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis, Microphthalmia OMIM:620601
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine... ORPHA:2255
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism OMIM:300712
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:77298
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Moebius Syndrome
Decreased testicular size, Microphthalmia OMIM:157900
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Hepatic fibrosis ORPHA:2072
Baraitser-Winter Syndrome 1
Microphthalmia, Cryptorchidism OMIM:243310
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Abdominal adhesions, Bilateral cryptorchidism OMIM:616395
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Cryptorchidism ORPHA:228390
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Cryptorchidism ORPHA:494344
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Seckel Syndrome 2
Microphthalmia OMIM:606744
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Warburg Micro Syndrome 4
Decreased testicular size, Microphthalmia, Cryptorchidism OMIM:615663
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Adams-Oliver Syndrome
Cirrhosis, Microphthalmia, Ascites, Portal hypertension, Congenital hepatic fibrosis ORPHA:974
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism ORPHA:163979
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Refsum Disease
Microphthalmia, Splenomegaly ORPHA:773
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... ORPHA:273
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Temtamy Syndrome
Microphthalmia OMIM:218340
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Microphthalmia OMIM:609053
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid... OMIM:241410
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hyperte... ORPHA:731
Trisomy 10P
Absent gallbladder ORPHA:171929
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Cryptorchidism ORPHA:369891
Rodrigues Blindness
Microphthalmia OMIM:268320
Hereditary Hemorrhagic Telangiectasia
Cirrhosis, Hepatic arteriovenous malformation, Cholelithiasis, Portal hypertension, Cholecystitis... ORPHA:774
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Biliary tract neoplasm, Enlarged polycystic ovaries, Pancreatic a... ORPHA:2869
Warburg Micro Syndrome 3
Decreased testicular size, Microphthalmia OMIM:614222
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:612530
Marden-Walker Syndrome
Microphthalmia, Cryptorchidism OMIM:248700
Walker-Warburg Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:899
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Hardikar Syndrome
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... OMIM:301068
Digeorge Syndrome
Cholelithiasis, Hypoplasia of the thymus, Parathyroid hypoplasia, Ovarian cyst, Splenomegaly, Hep... OMIM:188400
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly ORPHA:349
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Cryptorchidism ORPHA:2505
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Cryptorchidism ORPHA:2728
Zttk Syndrome
Absent gallbladder OMIM:617140
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Cryptorchidism, Septo-optic dysplasia ORPHA:3301
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Williams Syndrome
Cholelithiasis, Aplasia/Hypoplasia of the iris, Cardiomegaly, Polycystic ovaries, Cryptorchidism ORPHA:904
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Cryptorchidism, Hypoplasia of the iris OMIM:613001
Stromme Syndrome
Stillbirth, Microphthalmia, Optic nerve hypoplasia, Accessory spleen OMIM:243605
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Microphthalmia OMIM:193220
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Bile duct proliferation, Elevated circulating hepatic transaminase conc... OMIM:618329
Warburg Micro Syndrome 2
Microphthalmia, Cryptorchidism OMIM:614225
Micro Syndrome
Microphthalmia, Cryptorchidism ORPHA:2510
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Tetrasomy 9P
Absent gallbladder, Jaundice, Biliary atresia, Cryptorchidism ORPHA:3310
Microphthalmia/Coloboma 12
Microphthalmia, Optic nerve aplasia OMIM:120200
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Abnormal mesentery morphology, Cryptorchidism ORPHA:2075
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Cat Eye Syndrome
Microphthalmia, Biliary atresia OMIM:115470
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Martsolf Syndrome 1
Microphthalmia, Cryptorchidism OMIM:212720
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Kapur-Toriello Syndrome
Microphthalmia, Cryptorchidism OMIM:244300
Meckel Syndrome
Microphthalmia, Accessory spleen, Anophthalmia, Asplenia, Cryptorchidism, Congenital hepatic fibr... ORPHA:564
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Cryptorchidism, Left ventricular hypertrophy OMIM:619148
Mosaic Trisomy 9
Microphthalmia, Cryptorchidism, Abnormal liver lobulation, Asplenia ORPHA:99776
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro... OMIM:261515
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Microcephaly-Micromelia Syndrome
Microphthalmia, Neonatal death OMIM:251230
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Joubert Syndrome 14
Microphthalmia OMIM:614424
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Meckel Syndrome 14
Hepatic fibrosis, Microphthalmia OMIM:619879
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Phace Association
Optic nerve hypoplasia, Microphthalmia, Lingual thyroid OMIM:606519
Metachromatic Leukodystrophy, Adult Form
Neoplasm of the gallbladder, Cholecystitis ORPHA:309271
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Microphthalmia, Lenz Type
Microphthalmia, Cryptorchidism ORPHA:568
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Microphthalmia OMIM:300952
Mosaic Trisomy 1
Hepatic agenesis, Microphthalmia ORPHA:1692
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Frontonasal Dysplasia 2
Microphthalmia, Bilateral cryptorchidism OMIM:613451
Hypopituitarism, Microphthalmia ORPHA:391474
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Optic nerve hypoplasia ORPHA:500150
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fibrosis, Pancreatic fibrosi... OMIM:208500
8Q21.11 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:284160
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Black pigment gallstones ORPHA:56
Microphthalmia, Syndromic 3
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Optic nerve ... OMIM:206900
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Portal... OMIM:620005
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia OMIM:603467
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Cryptorchidism OMIM:614230
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Neonatal death, Hypoplastic spleen... OMIM:601186
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Microphthalmia, Panhypopituitarism, Decrea... OMIM:146510
Incontinentia Pigmenti
Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Hypoplasia of the fovea, ... OMIM:308300
Cohen Syndrome
Microphthalmia, Cryptorchidism ORPHA:193
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Microphthalmia, Cryptorchidism OMIM:616300
Pseudotrisomy 13 Syndrome
Microphthalmia, Cryptorchidism OMIM:264480
Histiocytoid Cardiomyopathy
Microphthalmia, Hepatomegaly, Congenital aphakia, Cardiomegaly, Polycystic ovaries ORPHA:137675
Vacterl With Hydrocephalus
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:3412
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:2250
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia, Increased hepatic echogenicity OMIM:608940
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit... OMIM:613610
Familial Adenomatous Polyposis
Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ... ORPHA:733
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Fryns Syndrome
Microphthalmia, Cryptorchidism ORPHA:2059
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple ORPHA:1236
Ohdo Syndrome, X-Linked
Microphthalmia, Cryptorchidism OMIM:300895
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Macular hypoplasia, Microphthalmia OMIM:147791
Fanconi Anemia, Complementation Group E
Microphthalmia, Cryptorchidism OMIM:600901
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Microphthalmia OMIM:110100
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Macroorchidism OMIM:618874
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Microphthalmia, Cryptorchidism, Buphthalmos OMIM:236670
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Hepatomegaly, Abnormality of the spleen, Anophthalmia ORPHA:2538
Focal Dermal Hypoplasia
Microphthalmia, Acute hepatic failure, Hypoplasia of the iris ORPHA:2092
Vacterl/Vater Association
Abnormality of the gallbladder, Abnormality of the pancreas, Cryptorchidism ORPHA:887
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:250989
Peters-Plus Syndrome
Bilobate gallbladder, Biliary tract abnormality, Cryptorchidism OMIM:261540
2Q31.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:251014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Fanconi Anemia, Complementation Group A
Microphthalmia, Cryptorchidism OMIM:227650
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Panhypopituitarism, Abnormality of the sp... ORPHA:2162
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Joubert Syndrome 2
Microphthalmia OMIM:608091
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism OMIM:234100
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Meckel Syndrome, Type 1
Microphthalmia, Accessory spleen, Asplenia, Bile duct proliferation, Splenomegaly, Cryptorchidism... OMIM:249000
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Hypoparathyroidism OMIM:127000
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris OMIM:251300
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia OMIM:612109
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Dubowitz Syndrome
Microphthalmia, Cryptorchidism, Hypoplasia of the iris OMIM:223370
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Linear Nevus Sebaceus Syndrome
Adenoma sebaceum, Microphthalmia ORPHA:2612
Incontinentia Pigmenti
Microphthalmia, Supernumerary nipple ORPHA:464
Fanconi Anemia, Complementation Group C
Microphthalmia, Cryptorchidism OMIM:227645
Cockayne Syndrome B
Microphthalmia, Hepatomegaly, Hypoplasia of the iris, Splenomegaly, Cryptorchidism OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Trisomy 18
Microphthalmia, Cryptorchidism ORPHA:3380
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Cho... OMIM:613658
Papillorenal Syndrome
Microphthalmia OMIM:120330
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cryptorchidism, Microphthalmia OMIM:268400
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Fanconi Anemia, Complementation Group D2
Annular pancreas, Cryptorchidism, Microphthalmia OMIM:227646
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism, Abdominal situs inversus ORPHA:2108
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Cockayne Syndrome Type 3
Microphthalmia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:90324
Fryns Syndrome
Stillbirth, Microphthalmia, Ectopic pancreatic tissue, Cryptorchidism, Polysplenia OMIM:229850
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Ovarian carcinoma, Microphthalmia OMIM:109400
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Prolonged neonatal jaundi... OMIM:620186
Monosomy 9Q22.3
Ovarian fibroma, Microphthalmia ORPHA:77301
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Cryptorchidism, Thyroid hypoplasia ORPHA:2166
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h... OMIM:609049
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:619525
Liver Disease, Severe Congenital
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:619991
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia, Exocrine pancreatic insufficiency ORPHA:508498
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Cryptorchidism, Microphthalmia OMIM:616975
Fraser Syndrome 2
Microphthalmia, Hypoplasia of the thymus OMIM:617666
Treacher-Collins Syndrome
Microphthalmia, Cryptorchidism, Thyroid hypoplasia, Hypoplasia of the thymus ORPHA:861
Fanconi Anemia
Microphthalmia, Abnormal testis morphology, Absent testis, Abnormality of the liver, Aplasia/Hypo... ORPHA:84
Cousin Syndrome
Microphthalmia OMIM:260660
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Ectopic thyroid, Lens coloboma ORPHA:42775
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Atelis Syndrome 2
Microphthalmia OMIM:620185
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Aicardi Syndrome
Hepatoblastoma, Microphthalmia ORPHA:50
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Ascites ORPHA:1052
Cockayne Syndrome
Microphthalmia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomega... ORPHA:191
Degcags Syndrome
Microphthalmia, Hepatomegaly, Cholestasis, Abnormal spleen morphology, Hepatosplenomegaly, Crypto... OMIM:619488
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi... OMIM:610829
Isolated Arrhinia
Microphthalmia ORPHA:1134
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Microphthalmia With Limb Anomalies
Microphthalmia, Cryptorchidism, True anophthalmia ORPHA:1106
Bartsocas-Papas Syndrome 1
Microphthalmia, Bilateral cryptorchidism OMIM:263650
Aicardi Syndrome
Hepatoblastoma, Microphthalmia OMIM:304050
Mend Syndrome
Microphthalmia, Cryptorchidism ORPHA:401973
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Bilateral microphthalmos, Cryptorchidism ORPHA:33364
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Intrahepatic bile duct dilatation, Anterior pituitary hypoplas... OMIM:619534
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Panhypopituitarism OMIM:610828
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Cryptorchidism, Hyperparathyroidism ORPHA:534
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Cryptorchidism OMIM:603457
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Cryptorchidism OMIM:609945
Monosomy 9P
Microphthalmia, Cryptorchidism ORPHA:261112
Fontaine Progeroid Syndrome
Microphthalmia, Hypoplastic nipples, Absent nipple, Neonatal death, Left ventricular hypertrophy,... OMIM:612289
Combined Immunodeficiency-Enteropathy Spectrum
Abnormal ductus choledochus morphology, Hepatitis, Hypoplasia of the thymus, Peritoneal abscess ORPHA:436252
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Abnormal testis morphology, Anophthalmia ORPHA:2556
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Myhre Syndrome
Microphthalmia, Cryptorchidism OMIM:139210
Abnormal biliary tract morphology, Enlargement of parotid gland ORPHA:252183
Roberts Syndrome
Microphthalmia, Cryptorchidism ORPHA:3103
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:613884
Tetraamelia Syndrome 1
Asplenia, Microphthalmia, Adrenal gland agenesis OMIM:273395
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Cryptorchidism OMIM:616734
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Bilateral microphthalmos, Cryptorchidism ORPHA:468631
Microphthalmia, Syndromic 2
Phthisis bulbi, Microphthalmia, Cryptorchidism, Anophthalmia OMIM:300166
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Cryptorchidism, Aplasia/Hypoplasia affecting the eye ORPHA:818
Traboulsi Syndrome
Microphthalmia OMIM:601552
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Neu-Laxova Syndrome 1
Stillbirth, Microphthalmia, Cryptorchidism, Neonatal death OMIM:256520
Charge Syndrome
Microphthalmia, Cryptorchidism, Anterior hypopituitarism, Anophthalmia ORPHA:138
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia, Cryptorchidism, Cardiomegaly ORPHA:3472
Hydrolethalus Syndrome 1
Stillbirth, Adrenal gland dysgenesis, Microphthalmia, Accessory spleen OMIM:236680
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Bilateral microphthalmos, Congenital hypoparathyroidism ORPHA:93325
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Anophthalmia, Hypoplastic nipples, Cryptorchidism, Supernumerary nipple OMIM:305600
Wolf-Hirschhorn Syndrome
Abnormality of the gallbladder, Cryptorchidism, Abdominal situs inversus ORPHA:280
Adams-Oliver Syndrome 1
Microphthalmia, Supernumerary nipple OMIM:100300
Renpenning Syndrome 1
Decreased testicular size, Microphthalmia OMIM:309500
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280