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Gene: Dynll1 MGI:1861457

Gene Summary

Name:

dynein light chain LC8-type 1

Synonyms:

DLC8, Dnclc1, 8kDa LC, Pin

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Dynll1^{tm1(KOMP)Wtsi}	HOM	Early adult	0.00
decreased circulating glucose level	Dynll1^{tm1(KOMP)Wtsi}	HET	Early adult	7.53×10^-05
decreased circulating fructosamine level	Dynll1^{tm1(KOMP)Wtsi}	HET	Early adult	1.66×10^-05
increased circulating bilirubin level	Dynll1^{tm1(KOMP)Wtsi}	HET	Early adult	1.09×10^-05
increased circulating alkaline phosphatase level	Dynll1^{tm1(KOMP)Wtsi}	HET	Early adult	3.90×10^-06

Download data as: TSV XLS

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Legacy Phenotype Associated Images

Dynll1^{tm1(KOMP)Wtsi}
HET, Female, WTSI

View all 84 images

Dynll1^{tm1(KOMP)Wtsi}
left eye, eyelids fail to open, HET, Female, WTSI

Dynll1^{tm1(KOMP)Wtsi}
abnormal placement of pupils, abnormal pupil morphology, HET, Female, WTSI

Dynll1^{tm1(KOMP)Wtsi}
back skin, HET, Female, WTSI

Human diseases caused by Dynll1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Dynll1 (0 diseases)
Human diseases predicted to be associated with Dynll1 (899 diseases)

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

The table below shows human diseases predicted to be associated to Dynll1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totali...	OMIM:616749
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ...	ORPHA:860
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:620010
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Dextrocardia, Dynein arm defect of respiratory motile cilia, Si...	OMIM:614679
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Retinal coloboma, Macular coloboma, Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma	OMIM:251505
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Malaria	Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T...	OMIM:614779
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa...	ORPHA:185
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isome...	OMIM:314390
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis...	OMIM:616037
Microphthalmia, Isolated 4	Microphthalmia, Absent testis, Coloboma	OMIM:613094
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left...	OMIM:615524
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Ciliary Dyskinesia, Primary, 37	Right aortic arch, Bronchiectasis, Dextrocardia, Situs inversus totalis	OMIM:617577
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Bronchiectasis, Dextrocardia, Absent inner and outer dynein arms	OMIM:618063
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Dextrocardia, Meningocele, Duodenal stenosis, Abnormal tricuspid valve mo...	ORPHA:1759
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Absent in...	OMIM:615444
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia...	OMIM:611638
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery...	OMIM:619702
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup...	OMIM:617478
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Absent outer dynein arms, Patent ductus arteriosus, Right...	OMIM:618300
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Abnormal lung lobation, Atrial sep...	OMIM:265380
Ciliary Dyskinesia, Primary, 2	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Absent in...	OMIM:606763
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron...	OMIM:615482
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele, Hydrocephalus, Coloboma	ORPHA:324416
Dextrocardia	Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Hydrocephalus,...	ORPHA:1666
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Cardiac-Urogenital Syndrome	Atrial septal defect, Cor triatrium sinister, Unilateral cryptorchidism, Ventricular septal defec...	OMIM:618280
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr...	OMIM:306955
Heart And Brain Malformation Syndrome	Ventricular septal defect, Polyhydramnios, High, narrow palate, Gastroesophageal reflux, Interrup...	OMIM:616920
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia	OMIM:611884
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Velocardiofacial Syndrome	Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard pal...	OMIM:192430
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Short Stature-Wormian Bones-Dextrocardia Syndrome	Dextrocardia, Cryptorchidism, Patent ductus arteriosus, High palate, Anal atresia	ORPHA:2863
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Recurrent respiratory infections, Median cleft palate	ORPHA:2432
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate, Coloboma	OMIM:600251
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum morphology, High...	ORPHA:250989
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Cryptorchidism, Hydrocephalus, Complete a...	OMIM:264480
Adams-Oliver Syndrome 4	Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Micr...	OMIM:615297
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Polyhydra...	ORPHA:99776
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent...	OMIM:615160
Biemond Syndrome Type 2	Microphthalmia, Hydrocephalus, Coloboma	ORPHA:141333
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,...	OMIM:613686
22Q11.2 Duplication Syndrome	Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter...	ORPHA:1727
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High pala...	ORPHA:2437
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Colo...	OMIM:618652
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Patent...	OMIM:619657
Frontonasal Dysplasia 1	Anterior basal encephalocele, Coloboma, Cranium bifidum occultum, Microphthalmia, Tetralogy of Fa...	OMIM:136760
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ...	OMIM:600001
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia	ORPHA:446
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
2Q24 Microdeletion Syndrome	Microphthalmia, Cleft palate, Coloboma	ORPHA:1617
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Coloboma	OMIM:274270
Joubert Syndrome 15	Coloboma, Exencephaly	OMIM:614464
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Bile Acid Synthesis Defect, Congenital, 5	Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia	OMIM:616278
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Iris coloboma, Coloboma	OMIM:610023
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Cleft palate, Edema	OMIM:616570
Marden-Walker Syndrome	Dextrocardia, High, narrow palate, Cryptorchidism, Pyloric stenosis, Cleft palate, Zollinger-Elli...	OMIM:248700
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left...	OMIM:605376
Meacham Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct...	OMIM:608978
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia	ORPHA:6
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Coloboma Of Macula With Type B Brachydactyly	Coloboma	OMIM:120400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ...	OMIM:620032
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef...	ORPHA:2257
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Nonimmune hydrops fetalis, Pulmonary hypoplasia, Polyhydramnios	OMIM:613124
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Anal atresia	OMIM:619318
Heterotaxy, Visceral, 5, Autosomal	Atrial septal defect, Right atrial isomerism, Bilateral trilobed lung, Ventricular septal defect,...	OMIM:270100
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ...	ORPHA:2255
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Total Anomalous Pulmonary Venous Return 1	Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return	OMIM:106700
Renal Tubular Dysgenesis	Tetralogy of Fallot, Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios	ORPHA:3033
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Type II diabetes mel...	OMIM:616860
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios	ORPHA:3032
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma	OMIM:618295
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hydrocephalus, Cleft palate, Coloboma, Aortic valve stenosis, Hypoplas...	OMIM:220210
Abruzzo-Erickson Syndrome	Cryptorchidism, Cleft palate, Coloboma, Chorioretinal coloboma, Atrial septal defect, Iris coloboma	ORPHA:921
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate	OMIM:600776
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent ductus ...	ORPHA:99050
Feingold Syndrome Type 1	Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Gastrointestin...	ORPHA:391641
Charge Syndrome	Aortic arch aneurysm, Anophthalmia, Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Patent d...	ORPHA:138
Xk Aprosencephaly Syndrome	Ventricular septal defect, Polyhydramnios, Atrial septal defect, Microphthalmia, Anal atresia	ORPHA:3469
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Hyperbilirubinemia	OMIM:609734
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Dextrocardia	OMIM:618067
Cat Eye Syndrome	Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis...	OMIM:115470
Perlman Syndrome	Distal ileal atresia, Polyhydramnios, Edema, Cryptorchidism, Interrupted aortic arch, Volvulus, A...	OMIM:267000
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus,...	ORPHA:77298
Ciliary Dyskinesia, Primary, 13	Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Recur...	OMIM:613193
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Abruzzo-Erickson Syndrome	Coloboma, Cleft palate	OMIM:302905
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Recurrent respiratory infections, Abnormal mitochondrial shape, Patent ductus arteriosus, Coarcta...	ORPHA:17
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Ventricular septal defect, Anterior encephalocele, Coloboma, Holoprosence...	OMIM:601357
Mmep Syndrome	Microphthalmia, Ventricular septal defect, Cryptorchidism	ORPHA:3434
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Cleft palate, Retinal coloboma...	ORPHA:220493
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Polyhydramnios, Cryptorchidism, Abnormal aortic ar...	ORPHA:2059
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Situs inversus t...	OMIM:615505
Thoracoabdominal Syndrome	Hydrocephalus, Patent ductus arteriosus, Anencephaly, Cleft palate, Transposition of the great ar...	OMIM:313850
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Cleft palate, Microph...	OMIM:613885
Alg3-Cdg	Abnormality of the gastrointestinal tract, Coarctation of the descending aortic arch, Neural tube...	ORPHA:79321
Harderoporphyria	Increased circulating ferritin concentration, Neonatal hyperbilirubinemia	OMIM:618892
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Jejunal atresia, Esophageal atresi...	OMIM:164280
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia, Hydrocephalus, Coloboma	OMIM:613153
Joubert Syndrome 16	Encephalocele, Coloboma	OMIM:614465
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Iris coloboma	OMIM:610092
Verheij Syndrome	Branchial cyst, Ventricular septal defect, Optic nerve hypoplasia, Cleft palate, Coloboma, Truncu...	OMIM:615583
Pontocerebellar Hypoplasia, Type 11	Coloboma, Recurrent respiratory infections, Anal atresia, Dysphagia	OMIM:617695
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi...	OMIM:617156
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Trisomy 13	Anophthalmia, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, High, narrow p...	ORPHA:3378
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn...	ORPHA:2847
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali...	OMIM:601927
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ...	OMIM:227810
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Intracranial ...	OMIM:614424
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus	ORPHA:1528
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Cat-Eye Syndrome	Microphthalmia, Anal atresia, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Cryptorchidism, Patent foramen ovale, Increased nuchal translucency, H...	OMIM:618494
Esophageal Atresia	Bronchitis, Polyhydramnios, Gastrointestinal dysmotility, Anorectal anomaly, Coloboma, Gastroesop...	ORPHA:1199
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Polyhydramnios, Patent ductus arteriosus, Pulmonary hypoplasia, Dysphagia, Patent foramen ovale	OMIM:616867
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ...	ORPHA:348
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Bachmann-Bupp Syndrome	Hypoglycemia, Hyperbilirubinemia	OMIM:619075
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Cleft palate,...	ORPHA:163979
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Absent inner dynein arms, Situs inversus totalis, Abnormal axon...	OMIM:613807
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Colob...	ORPHA:329224
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Cardiomyopathy, Coloboma, Macrogl...	ORPHA:370959
Ciliary Dyskinesia, Primary, 18	Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Recurrent sinusitis, ...	OMIM:614874
Microphthalmia, Syndromic 13	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Oculocerebrocutaneous Syndrome	Anophthalmia, Cryptorchidism, Orbital encephalocele, Cleft palate, Microphthalmia	OMIM:164180
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin	OMIM:232800
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Stevenson-Carey Syndrome	Coloboma, Gastroesophageal reflux, Left superior vena cava draining to coronary sinus, Atrial sep...	OMIM:611961
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Dextrocardia, Cryptorchidism, Coarctation of aorta, High palate, Atrioventricular canal defect	OMIM:618929
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Aortic aneurysm	ORPHA:1777
15Q24 Microdeletion Syndrome	Cryptorchidism, Myelomeningocele, Abnormal heart morphology, Coloboma, Anal atresia, Intestinal a...	ORPHA:94065
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia	OMIM:269920
Microphthalmia, Syndromic 9	Atrial septal defect, Anophthalmia, Ventricular septal defect, Cryptorchidism, Patent ductus arte...	OMIM:601186
Propionic Acidemia	Hypoglycemia, Hyperammonemia	ORPHA:35
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Craniofacioskeletal Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Interrupted ao...	OMIM:300712
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus, Retinal coloboma, Cryptorchidism	OMIM:601794
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia	ORPHA:664
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Situs inversus totalis, Absent outer dynein arms, Bronchiectasi...	OMIM:615500
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia, Polyhydramnios	OMIM:617194
Nanophthalmos	Microphthalmia	ORPHA:35612
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Polyhydramnios, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Apl...	ORPHA:3301
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Ascites, Cardiomegaly	ORPHA:858
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia	ORPHA:73272
Congenital Tracheal Stenosis	Meckel diverticulum, Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hy...	ORPHA:141127
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Bicuspid aortic valve, Ventricular septal defect, Cryp...	ORPHA:453499
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Agnathia-Otocephaly Complex	Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pu...	OMIM:202650
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Patent ductus arteriosus, Polyhydramnios, Duodenal stenosis	ORPHA:2547
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac ventricle morpho...	ORPHA:2306
Johanson-Blizzard Syndrome	Dextrocardia, Edema, Malabsorption, Anteriorly placed anus, Abnormal cardiac septum morphology, A...	ORPHA:2315
Ciliary Dyskinesia, Primary, 9	Pneumonia, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Recurrent sinusitis	OMIM:612444
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia	OMIM:235555
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, High palate	ORPHA:2528
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Cryptorchidism, Macroglossia, Coloboma, Transposition of the great arteries, Patent foramen ovale	OMIM:616789
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ...	OMIM:611134
Coach Syndrome 2	Coloboma, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
Joubert Syndrome 22	Microphthalmia, Coloboma	OMIM:615665
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory tract infection...	OMIM:618183
Congenital Rubella Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Atrial septa...	ORPHA:290
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hyperbilirubinemia	OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar...	ORPHA:2396
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration	ORPHA:79303
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus	OMIM:614830
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalbuminemia, Hype...	ORPHA:1667
Phaver Syndrome	Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo...	ORPHA:2876
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu...	ORPHA:980
Solitary Median Maxillary Central Incisor	Anophthalmia, Coloboma, Holoprosencephaly, Microphthalmia, Cyclopia	OMIM:147250
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Bilateral cleft lip and palate	ORPHA:1473
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Absent outer dynein arms, Bronchiectasis	OMIM:614017
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Aortic valve stenosis, Pulmon...	OMIM:615415
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Polyhydramnios, Cryptorchidism, Hydrocephalus, Abnormal lu...	ORPHA:2166
Cataract 9, Multiple Types	Microphthalmia, Iris coloboma	OMIM:604219
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia, Hypogl...	OMIM:251880
Hartsfield Syndrome	Encephalocele, Microphthalmia, Cleft palate, Lobar holoprosencephaly	ORPHA:2117
Baraitser-Winter Syndrome 2	Microphthalmia, Coloboma	OMIM:614583
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Poland Syndrome	Dextrocardia	OMIM:173800
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane...	ORPHA:1908
Genitopalatocardiac Syndrome	Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ...	OMIM:231060
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary hypoplasia	OMIM:619003
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,...	ORPHA:261197
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Retinal coloboma, Mi...	ORPHA:2328
Digeorge Syndrome	Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, High, narr...	OMIM:188400
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, E...	ORPHA:3412
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota...	ORPHA:99125
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia	OMIM:617093
Meckel Syndrome, Type 2	Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Microphthalmia	OMIM:603194
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Cleft palate, Micro...	ORPHA:85284
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Ciliary Dyskinesia, Primary, 23	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis	OMIM:615451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Microphthalmia, Hydrocephalus, Cardiomyopathy	OMIM:613155
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia, Cleft palate	ORPHA:2631
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Absent inner and outer ...	OMIM:614935
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Abnormal respiratory motile cilium morphology, Recurrent sinusitis	OMIM:612518
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:608836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Hydrocephalus, Coloboma, Abnormally large globe	OMIM:615249
Hydrolethalus	Anophthalmia, Polyhydramnios, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencep...	ORPHA:2189
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Hydrocephalus, E...	ORPHA:974
Ciliary Dyskinesia, Primary, 3	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Ciliary Dyskinesia, Primary, 32	Situs inversus totalis, Recurrent respiratory infections, Absent respiratory ciliary axoneme radi...	OMIM:616481
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron...	ORPHA:244
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Ciliary Dyskinesia, Primary, 12	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Abnormal central microt...	OMIM:612650
Nanophthalmos 4	Microphthalmia	OMIM:615972
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Situs inversus totalis, Abnormal axonemal organization of respi...	OMIM:613808
Bardet-Biedl Syndrome 17	Situs inversus totalis, Dextrocardia	OMIM:615994
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype...	ORPHA:3008
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Intestinal mal...	OMIM:618316
Igg4-Related Aortitis	Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu...	ORPHA:449400
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
17Q12 Microduplication Syndrome	Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Atrial septal defect, Microphthalmia	ORPHA:261272
Knobloch Syndrome	Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus	ORPHA:1571
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp...	ORPHA:2334
Thanatophoric Dysplasia	Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Increased nuchal translucency, Pulmonary...	ORPHA:2655
Oculofaciocardiodental Syndrome	Intestinal malrotation, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, Mitr...	ORPHA:2712
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly	OMIM:614096
Microphthalmia, Syndromic 5	Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Coloboma, Microphthalmia	OMIM:610125
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia	OMIM:613280
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Cryptorchidism, Patent ductus arteriosus, Pyloric stenosis, Anencephaly, Anteriorl...	OMIM:619148
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Abnormal lung morphology, Duodenal stenosis, Pulmonary hypoplasia, ...	ORPHA:2470
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Pulmonary hypoplasia	OMIM:618174
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Microphthalmia, Syndromic 2	Anophthalmia, Ventricular septal defect, Dextrocardia, Remnants of the hyaloid vascular system, C...	OMIM:300166
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia, Absent uvula	OMIM:616531
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Esophageal varix, Coloboma, Vascular dilatation	OMIM:216360
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Distal Triplication 15Q	Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Abnormal heart morphology, Hydr...	ORPHA:314588
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Dextrocardia, Patent ductus arteriosus, Tracheoesophageal fistula, High palate, Atrial septal def...	OMIM:277380
Otodental Dysplasia	Coloboma	OMIM:166750
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Coloboma, Dysphagia	OMIM:612379
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cryptorchidism, Patent ductus arteriosus, Coloboma	OMIM:618659
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,...	ORPHA:95430
Distal Duplication 5Q	Cryptorchidism, Ventricular septal defect, Dextrocardia, Chorioretinal coloboma	ORPHA:96097
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Microphthalmia, Tetralogy of Fallot, Ventricular hypertrophy	OMIM:300887
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha...	ORPHA:231736
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Clef...	OMIM:244300
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Coiled sperm flagella, ...	OMIM:620197
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Hydrocephalus, Ventricular septal defect	OMIM:602501
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia, Glycosuria	OMIM:613404
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia	OMIM:266200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Dextrocardia	OMIM:613095
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Pulmonary hypoplasia	OMIM:615228
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:601847
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Cleft palate, Pulmonary hypoplasia, Microglossia	OMIM:241800
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch...	OMIM:615504
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Polyhydramnios, Hydrops fetalis, High palate, Pulmonary hypoplasia	OMIM:255320
Meckel Syndrome 14	Occipital encephalocele, Increased nuchal translucency, Pneumothorax, Oligohydramnios, Holoprosen...	OMIM:619879
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior...	OMIM:616843
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Serkal Syndrome	Ventricular septal defect, Malrotation of small bowel, Pulmonary hypoplasia, Pulmonic stenosis, O...	ORPHA:139466
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Chorioretinal coloboma, Micropht...	OMIM:243310
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly, Cleft palate	OMIM:611561
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618838
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Gastroesophageal reflux, Ch...	ORPHA:494344
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia	OMIM:211600
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Retinal coloboma, Cryptorchidism	ORPHA:363741
Tetrasomy 15Q26	Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, High palate, Atrial septal defect	OMIM:614846
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Coloboma	OMIM:167730
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrocephalus, Hydrops fetalis, Tracheoesophageal fistula, Coarctation...	ORPHA:268249
Nasopalpebral Lipoma-Coloboma Syndrome	Recurrent upper respiratory tract infections, Microphthalmia, Bilateral microphthalmos, Coloboma	ORPHA:2399
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Anencep...	ORPHA:1335
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Polyhydramnios, Stomach cancer, Increased nuchal translucency, Abnormal lun...	ORPHA:1052
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Pulmonary hypoplasia, Oligohydramnios	OMIM:616733
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Patent ductus arteriosus, Abno...	ORPHA:3097
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Cryptorchidism, Cleft palate, Coronary artery fistula, A...	OMIM:614294
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta, Iris coloboma, Optic disc coloboma	OMIM:169550
Cofs Syndrome	Microphthalmia	ORPHA:1466
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Cryptorchidism, High, narrow palate, Abnormal heart morphology, Tetralogy of Fallot	ORPHA:96092
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Pierpont Syndrome	Microphthalmia, Cryptorchidism	OMIM:602342
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal d...	OMIM:619534
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Hypocholesterolemia	OMIM:607765
Restrictive Dermopathy	Dextrocardia, Polyhydramnios, Large placenta, Patent ductus arteriosus, Submucous cleft hard pala...	ORPHA:1662
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Subvalvular aor...	OMIM:613001
Pagod Syndrome	Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Pulmonary artery hypoplasia, Ab...	ORPHA:991
Joubert Syndrome 23	Coloboma	OMIM:616490
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Recurrent pneumonia, Dehydration, Cryptorchidism	OMIM:214150
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine...	ORPHA:3202
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Abnormal...	ORPHA:2538
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Cryptorchidism, Coloboma	ORPHA:464288
22Q11.2 Deletion Syndrome	Polyhydramnios, Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastr...	ORPHA:567
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Abnormally large globe, Hydrocephalus, Vascular ring, Atrial septal de...	OMIM:603387
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Hydrocephalus,...	ORPHA:2461
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Optic nerve hypoplasia, Spina bifida, Ventricular septal defect, Atriovent...	ORPHA:508498
Warburg Micro Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:600118
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, High palate, Pulmonary h...	OMIM:616866
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Cryptorchidism, Cleft palate, High palate, Pulmonary hypoplasia, Holop...	OMIM:612530
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Cryptorchid...	OMIM:206900
Glycogen Storage Disease Xii	Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia	OMIM:611881
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Chondrodysplasia, Blomstrand Type	Hydrops fetalis, Fetal ascites, Preductal coarctation of the aorta, Polyhydramnios	OMIM:215045
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Hamartoma of tongue, Hydrocephalus, Anencephaly, Hydrops fetalis, Cleft palate, R...	OMIM:616546
Microphthalmia, Syndromic 8	Microphthalmia, Cleft palate, Cryptorchidism	OMIM:601349
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cryptorchidism, High palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:139471
Tonne-Kalscheuer Syndrome	Cryptorchidism, Velopharyngeal insufficiency, Abnormal heart morphology, Pulmonary hypoplasia, Dy...	OMIM:300978
Focal Dermal Hypoplasia	Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Hypoplasia of the iris, Aplasi...	ORPHA:2092
Cardiac Valvular Dysplasia 1	Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Ede...	OMIM:212093
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia	OMIM:613673
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Meckel diverticulum, Ventricular septal defect, Large ...	ORPHA:1708
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Cryptorchidism, Meningoencephalocele, Hydrocepha...	OMIM:236670
Charge Syndrome	Anophthalmia, Polyhydramnios, Secundum atrial septal defect, Coloboma, Holoprosencephaly, Atrial ...	OMIM:214800
Srd5A3-Cdg	Coloboma, Optic disc hypoplasia	ORPHA:324737
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Bilateral cryptorchidism, Mid...	ORPHA:2326
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Aortic aneurysm	OMIM:218340
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia	OMIM:300908
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ventricular septal defect, Cryptorchidism	OMIM:613730
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Oligohydramnios, Cryptorchidism	ORPHA:228390
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona...	OMIM:300845
Multiple Pterygium Syndrome, X-Linked	Polyhydramnios, Edema, Cleft palate, Pulmonary hypoplasia, Hypoplastic heart	OMIM:312150
Anterior Segment Dysgenesis 2	Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia	OMIM:610256
Neurooculorenal Syndrome	Dextrocardia, Intestinal malrotation, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Mitral ...	OMIM:620305
Nephronophthisis 2	Situs inversus totalis, Pulmonary hypoplasia, Oligohydramnios	OMIM:602088
Holoprosencephaly	Encephalocele, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Medi...	ORPHA:2162
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia	OMIM:613812
Fanconi Anemia, Complementation Group F	Pneumonia, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Microp...	OMIM:603467
Monosomy 18P	Microphthalmia, Holoprosencephaly, Cleft palate, Lymphedema	ORPHA:1598
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Pulmonary hypoplasia, Oligohydramnios	OMIM:236500
Frontorhiny	Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Bifid...	ORPHA:391474
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
3P25.3 Microdeletion Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Pyloric stenosis, Cleft...	ORPHA:435638
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Cryptorchidism, Hydrocephalus, ...	ORPHA:3310
Rh Deficiency Syndrome	Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Phakomatosis Pigmentokeratotica	Cryptorchidism, Coloboma, Spina bifida, Lymphedema	ORPHA:2874
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Iris coloboma, Cleft palate	ORPHA:1791
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Cleft palate, Hypertrop...	OMIM:616897
Gillessen-Kaesbach-Nishimura Syndrome	Polyhydramnios, Abnormal lung lobation, Abnormal heart morphology, Pulmonary hypoplasia, Oligohyd...	OMIM:263210
Trisomy 18	Ventricular septal defect, Spina bifida, Cryptorchidism, Esophageal atresia, Anencephaly, Cleft p...	ORPHA:3380
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Microphthalmia, Isolated 8	Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia	OMIM:615113
Lymphangiectasia, Pulmonary, Congenital	Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Edema, Polyhydramni...	OMIM:265300
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Multiple Pterygium Syndrome, Lethal Type	Polyhydramnios, Edema, Cleft palate, Pulmonary hypoplasia, Hypoplastic heart	OMIM:253290
Gracile Bone Dysplasia	Hydrocephalus, Aniridia, Microphthalmia, Ascites, Ankyloglossia	OMIM:602361
Fructose Intolerance, Hereditary	Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria	OMIM:229600
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Narrow palate, Macrog...	OMIM:617022
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Pylor...	OMIM:147791
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormal heart m...	ORPHA:404440
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular sept...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular sept...	ORPHA:352665
Constricting Bands, Congenital	Encephalocele, Ectopia cordis, Abnormal lung lobation, Cleft palate	OMIM:217100
Marcus-Gunn Syndrome	Coloboma, Cleft palate, Abnormal heart morphology	ORPHA:91412
Short-Rib Thoracic Dysplasia 12	Ventricular septal defect, Intestinal malrotation, Edema, Polyhydramnios, Hamartoma of tongue, At...	OMIM:269860
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration	OMIM:614887
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lipomyelomeningocele, Micro...	OMIM:601707
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Cleft palate, Coarctat...	OMIM:616145
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Optic nerve hypoplasia, Polyhydramnios, Cryptorchidism, Patent ductus ...	OMIM:617506
Achondrogenesis Type 2	Pulmonary hypoplasia, Edema	ORPHA:93296
Rubinstein-Taybi Syndrome 1	Polyhydramnios, Bilateral cryptorchidism, High, narrow palate, Aortic isthmus hypoplasia, Colobom...	OMIM:180849
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Atelect...	OMIM:244400
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Cleft palate, Pulmonary hypoplasia, Microphthalmia, Oligohydramnios	OMIM:251230
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Cong...	OMIM:611812
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus, Hydrops fetalis, Cleft palate, Abnormal heart morph...	ORPHA:1865
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Umbilical hernia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale	OMIM:618914
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Polyhydramnios, Cryptorchidism, Cleft palate, Pulmonary hypoplasia	ORPHA:994
Adams-Oliver Syndrome 2	Microphthalmia, Hydrocephalus, Oligohydramnios	OMIM:614219
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Polyhydramnios, Situs inversus totalis, Microglossia, Holoprosencephaly, Cyclopia	ORPHA:990
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop...	OMIM:277900
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Mosaic Trisomy 1	Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Cleft palate, Coarctati...	ORPHA:1692
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, High palate, Oligohydramnios	OMIM:619053
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri...	ORPHA:1596
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph...	ORPHA:2369
Meckel Syndrome, Type 1	Occipital encephalocele, Anal atresia, Intestinal malrotation, Cryptorchidism, Patent ductus arte...	OMIM:249000
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:93267
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Coloboma	OMIM:617306
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Cryptorchidism, Optic disc coloboma, Cleft palate, Coloboma, Atrial se...	ORPHA:251014
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Lobul...	OMIM:616300
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia...	ORPHA:14
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	High palate, Pulmonary hypoplasia	OMIM:617468
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia	OMIM:224120
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Aganglionic megacolon, Optic disc coloboma, Coloboma, Chorioretinal colobo...	ORPHA:959
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect, Cleft palate	OMIM:617616
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, High palate, Cleft palate	ORPHA:1135
Congenital Diaphragmatic Hernia	Intestinal malrotation, Pulmonary hypoplasia	ORPHA:2140
Duane-Radial Ray Syndrome	Anal atresia, Anal stenosis, Optic disc hypoplasia, Ventricular septal defect, Aganglionic megaco...	OMIM:607323
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma, Intestinal malrotation	ORPHA:1553
Lethal Congenital Contracture Syndrome 1	Pulmonary hypoplasia, Edema	OMIM:253310
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Dysphagia	OMIM:308350
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, High, narrow palate, Bilateral microphthalmos, Cleft palate, Ethmoidal en...	OMIM:607597
Graft Versus Host Disease	Hyperbilirubinemia	ORPHA:39812
De Barsy Syndrome	Recurrent sinopulmonary infections, Ventricular septal defect, Cryptorchidism, Patent ductus arte...	ORPHA:2962
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra...	OMIM:253800
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia	OMIM:208085
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Submucous cleft hard palate, Cleft palate, Pulmonary hypoplasia, Holoprosencephaly	ORPHA:250999
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hydrocephalus, Cleft palate, Anteriorly placed anus,...	OMIM:309801
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, High palate, Umbil...	ORPHA:536545
Cystic Echinococcosis	Hyperbilirubinemia	ORPHA:400
Pallister-Hall Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal lung lobation, Clef...	OMIM:146510
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
8Q24.3 Microdeletion Syndrome	Branchial cyst, Gastrointestinal hemorrhage, Ventricular septal defect, Optic nerve hypoplasia, A...	ORPHA:508488
Phace Syndrome	Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,...	ORPHA:42775
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,...	ORPHA:261311
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Secundum atrial septal defect, Optic disc coloboma, D...	ORPHA:2260
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Walker-Warburg Syndrome	Anophthalmia, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Bifid uvu...	ORPHA:899
Meckel Syndrome	Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Situs inversus totalis, Cryptorchi...	ORPHA:564
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Cleft palate, Pulmonary ...	OMIM:612284
Fanconi Anemia	High palate, Atrial septal defect, Spina bifida, Aplasia/Hypoplasia of the uvula, Cryptorchidism,...	ORPHA:84
Hereditary Spherocytosis	Hyperbilirubinemia	ORPHA:822
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Microphthalmia, Volvulus, Decreased testicular size, Right ventricu...	ORPHA:335
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Cutis Laxa, Autosomal Recessive, Type Ic	Vascular dilatation, Atelectasis, Periorbital edema, Recurrent pneumonia, Rectal prolapse, Pylori...	OMIM:613177
Pelvis-Shoulder Dysplasia	Spina bifida, Hydrocephalus, Bilateral microphthalmos, Cleft palate, Retinal coloboma, Hydranence...	ORPHA:2839
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:212550
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Cryptorchidism, Cleft palate, Umbilical hernia, Microphthalmia	ORPHA:2505
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Renal Agenesis, Bilateral	Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine morphology, Pulmonary hy...	ORPHA:1848
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology, M...	ORPHA:369891
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral arteries, Polyhydram...	OMIM:620025
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Polyhydramnios, High, narrow ...	OMIM:619472
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Steinfeld Syndrome	Abnormal heart morphology, Bifid uvula, Retinal coloboma, Holoprosencephaly, Microphthalmia, Iris...	OMIM:184705
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Furrowed tongue, Coloboma, H...	OMIM:616975
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
3Q29 Microduplication Syndrome	Ventricular septal defect, Cleft palate, Ectopic anus, High palate, Aniridia, Microphthalmia, Iri...	ORPHA:251038
Cree Mental Retardation Syndrome	Cryptorchidism, Cleft soft palate, Coloboma	OMIM:606851
Kagami-Ogata Syndrome	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmon...	OMIM:608149
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Joubert Syndrome 37	Microphthalmia, High palate, Decreased testicular size, Cryptorchidism	OMIM:619185
Autoimmune Hepatitis	Increased total bilirubin	ORPHA:2137
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, In...	ORPHA:353281
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Recurrent pneumonia, Cleft palate, Furrowed tongue, High palate, Gastr...	OMIM:616449
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia, Polyhydramnios	ORPHA:1486
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect, Cryptorchidism, Cleft palate, Coloboma, High palate, Decreased testicu...	ORPHA:251028
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect, Chorioretinal coloboma, Cryptorchidism	OMIM:619135
Carpenter Syndrome 2	Dextrocardia, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Situs inversus ...	OMIM:614976
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia, Esophageal atresia, Cleft soft palate	OMIM:614526
Hallermann-Streiff Syndrome	Recurrent respiratory infections, Spina bifida, Cryptorchidism, High, narrow palate, Optic disc c...	OMIM:234100
Severe Congenital Nemaline Myopathy	Dysphagia, Pulmonary hypoplasia, Polyhydramnios, Edema of the dorsum of hands	ORPHA:171430
Platyspondylic Dysplasia, Torrance Type	Cleft palate, Hydrops fetalis, Pulmonary hypoplasia, Polyhydramnios	ORPHA:85166
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Microphthalmia, Meckel diverticulum, Pyloric stenosis	OMIM:616395
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy	OMIM:618805
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Hydrocele testis, Aortic root aneurysm, Pulmonary hypoplasia, Atrial s...	OMIM:145420
Moebius Syndrome	Decreased testicular size, High palate, Dysphagia, Microphthalmia, Bifid uvula	OMIM:157900
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Cleft palate, Coloboma, High palate, Atrial se...	OMIM:309500
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ...	OMIM:120200
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Intestinal malrotation, Pulmonary hypoplasia	ORPHA:3035
Sandestig-Stefanova Syndrome	Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect, Hig...	OMIM:618804
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Neu-Laxova Syndrome 1	Ventricular septal defect, Spina bifida, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus...	OMIM:256520
Otodental Syndrome	Microphthalmia, Lens coloboma, Retinal coloboma, Iris coloboma	ORPHA:2791
Stromme Syndrome	Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Hydrocephalus, Cleft palate, Mic...	OMIM:243605
Microphthalmia With Limb Anomalies	Anophthalmia, Unilateral cryptorchidism, Cleft palate, Interrupted inferior vena cava with azygou...	OMIM:206920
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria	OMIM:616026
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect	ORPHA:85194
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft...	OMIM:100300
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Coarctation of aorta	OMIM:163200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Polyhydramnios, Patent ductus arteriosus, Cleft palate, Hydrocele testis, High pal...	OMIM:614080
Braddock-Carey Syndrome 2	Microphthalmia, Cleft palate	OMIM:619981
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Familial Multiple Lipomatosis	Coloboma, Abnormal tricuspid valve morphology, Functional intestinal obstruction	ORPHA:199276
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Fumarase Deficiency	Hyperbilirubinemia	OMIM:606812
Atelosteogenesis, Type Ii	Pulmonary hypoplasia, Cleft palate	OMIM:256050
Ring Chromosome 10 Syndrome	Microphthalmia, Aganglionic megacolon	ORPHA:1438
Galloway-Mowat Syndrome 3	Edema, Hiatus hernia, Coarctation of aorta, High palate, Microphthalmia, Oligohydramnios	OMIM:617729
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Pulmonary hypoplasia, Cryptorchidism	OMIM:224410
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Hyperbilirubinemia	OMIM:557000
Joubert Syndrome 2	Encephalocele, Hydrocephalus, Optic disc coloboma, High palate, Chorioretinal coloboma, Microphth...	OMIM:608091
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Pedal edema, Mitral valve prolapse, Varicose veins, Coloboma, Macroglo...	OMIM:617107
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, Coloboma, High palate, Gastroesophageal reflux, Atrial sep...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, Coloboma, High palate, Gastroesophageal reflux, Atrial sep...	ORPHA:353277
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Retinal coloboma, Cleft palate, Abnormal heart morphology	OMIM:618571
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia	OMIM:245650
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly	ORPHA:2211
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate	OMIM:614402
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Mitral valve prolapse, Bilateral cleft lip and palate, High palate, Ma...	OMIM:618874
Branchio-Oculo-Facial Syndrome	Coloboma, High palate, Iris coloboma	ORPHA:1297
Fanconi Anemia, Complementation Group R	Microphthalmia, Hydrocephalus, Anal atresia	OMIM:617244
Autosomal Recessive Multiple Pterygium Syndrome	Cryptorchidism, Cleft palate, Abnormal aortic valve morphology, Pulmonary hypoplasia, High palate...	ORPHA:2990
Fryns Syndrome	Ventricular septal defect, Aganglionic megacolon, Polyhydramnios, Intestinal malrotation, Cryptor...	OMIM:229850
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Lathosterolosis	Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H...	OMIM:607330
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Basal Cell Nevus Syndrome 1	Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ...	OMIM:109400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Hydrocephalus	OMIM:300863
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Acrocallosal Syndrome	Abnormal pulmonary valve morphology, Protruding tongue, Cryptorchidism, Cleft palate, Coloboma, A...	OMIM:200990
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Stroke-like episode, Microp...	ORPHA:137675
Monosomy 18Q	Absence of the pulmonary valve, Bilateral cryptorchidism, Left aortic arch with right descending ...	ORPHA:1600
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Iris coloboma, Macular coloboma	OMIM:615145
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Kabuki Syndrome	Cryptorchidism, Hydrocephalus, Cleft palate, Coarctation of aorta, Coloboma, Abnormal cardiac sep...	ORPHA:2322
Martsolf Syndrome 1	Recurrent respiratory infections, Cryptorchidism, Cardiomyopathy, High palate, Microphthalmia	OMIM:212720
Thanatophoric Dysplasia, Type I	Hydrocephalus, Pulmonary hypoplasia, Polyhydramnios	OMIM:187600
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Increased circul...	OMIM:614866
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular...	OMIM:617168
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, High palate	OMIM:614105
Poland Syndrome	Encephalocele, Dextrocardia, Cryptorchidism, Atrial septal defect, Spina bifida occulta	ORPHA:2911
Seckel Syndrome 2	Microphthalmia, Microglossia	OMIM:606744
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia, Iris coloboma	OMIM:269400
Caroli Disease	Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration	ORPHA:53035
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Thoracic aortic aneurysm, Ileal atresia, Patent ductus arteriosus, Pulmonary hypoplasia, Microcol...	OMIM:619351
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, High palate, Cleft palate	ORPHA:163649
Fontaine Progeroid Syndrome	Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Protruding tongue, Cryp...	OMIM:612289
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Abnormal lung morphology, High palate	ORPHA:35173
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Retinal coloboma, Microphakia, Chorioretinal coloboma, Microp...	OMIM:612109
Renal-Hepatic-Pancreatic Dysplasia 1	Intestinal malrotation, Situs inversus totalis, Patent ductus arteriosus, Pulmonary hypoplasia, A...	OMIM:208540
Caroli Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:480520
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Coloboma	OMIM:615877
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Atrial septal defect, Microphthalmia, Patent f...	OMIM:609053
Micro Syndrome	Microphthalmia, High palate, Retinal coloboma, Cryptorchidism	ORPHA:2510
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Tracheoesophageal fis...	ORPHA:861
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia	ORPHA:464321
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Bil...	OMIM:610828
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Oligohydramnios	OMIM:267430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia	OMIM:613150
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Overriding aorta, Holoprosencephaly, Microphthalmia, Cyclopia, Tetralogy of Fallot, Iris coloboma	ORPHA:3186
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Patent ductus arteriosus, Supravalvar pulmonary stenosis...	OMIM:620185
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Hamartoma of tongue, Esophageal diverticulum, Complete atrioventricular canal defect, Cleft palat...	OMIM:617925
Microphthalmia, Lenz Type	Cryptorchidism, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:568
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia, Encephalocele, Oligohydramnios	OMIM:613451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Hydrocephalus, Mi...	OMIM:614643
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Cleft palate	OMIM:257910
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short uvula, Hydrops fetalis, Cleft palate, High palate, Pulmonary hypoplasia, Ascites	OMIM:614091
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia, Oligohydramnios	OMIM:191830
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Microphthalmia, Cleft palate, Cryptorchidism	ORPHA:2728
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Hydrocephalus	ORPHA:163966
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Microphthalmia, Abnormal cardiac septum morphology, Anal atresia	ORPHA:1352
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Cryptorchidism, Umbilical hernia, High palate, Holoprosencephaly, Chor...	OMIM:613884
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Aganglionic megacolon, Polyhydramnios, Cryptorchidism, Patent ductus a...	ORPHA:818
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, High, narrow palate, Recurrent pneumonia, Cleft palate, Furrowed tongu...	ORPHA:464738
Cohen Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Cryptorchidism, High, narrow palate,...	ORPHA:193
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Edema, Cryptorchidism, Pedal edema, Rectovaginal fistula, Pulmonary hypopl...	OMIM:236700
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Hydrocephalus, Cleft palate, Gl...	ORPHA:90652
Bohring-Opitz Syndrome	Recurrent respiratory infections, Cardiomegaly, Cleft palate, Coloboma, Abnormal cardiac septum m...	ORPHA:97297
Vitreoretinochoroidopathy	Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion	OMIM:193220
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Recurrent respiratory infections, Polyhydramnios, Optic disc coloboma, Hydrocele ...	OMIM:620186
Ogden Syndrome	Hyperbilirubinemia, Maternal diabetes	OMIM:300855
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoglycemia	OMIM:613658
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Tracheoesophageal fistula, High palate,...	ORPHA:958
Bartsocas-Papas Syndrome 2	Microphthalmia, Bilateral cleft lip and palate	OMIM:619339
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Coloboma	ORPHA:85167
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Optic ...	ORPHA:141099
3Q29 Microdeletion Syndrome	Patent ductus arteriosus, Gastroesophageal reflux, High palate, Subvalvular aortic stenosis, Micr...	ORPHA:65286
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Cryptorchidism, Pulmona...	OMIM:235730
Warburg Micro Syndrome 4	Microphthalmia, Decreased testicular size, Cryptorchidism	OMIM:615663
Warburg Micro Syndrome 3	Microphthalmia, Decreased testicular size, Narrow palate	OMIM:614222
Bosma Arhinia Microphthalmia Syndrome	Cryptorchidism, Cleft palate, Coloboma, High palate, Microphthalmia	OMIM:603457
Fanconi Anemia, Complementation Group S	Microphthalmia, Narrow palate	OMIM:617883
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thoracic aortic aneurysm, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Mitral valve prola...	ORPHA:536467
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia, Cleft palate	ORPHA:1915
Aicardi Syndrome	Spina bifida, Hiatus hernia, Optic disc coloboma, Recurrent pneumonia, Cleft palate, Hepatoblasto...	OMIM:304050
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia	ORPHA:168577
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Pulmonary hypoplasia	OMIM:617895
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventricular septal defect, Bicuspid aortic valve, Palpebral edema, High, narrow palate, Hydroceph...	OMIM:619475
Tetraamelia Syndrome 1	Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia, Microphth...	OMIM:273395
Gaucher Disease, Perinatal Lethal	Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Pulmonary hypoplasia, Dysphagia, Ascites	OMIM:608013
Isolated Biliary Atresia	Conjugated hyperbilirubinemia	ORPHA:30391
Renal Agenesis	Ventricular septal defect, Pulmonary hypoplasia, Anal atresia, Oligohydramnios	ORPHA:411709
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Facial edema, Pulmonary hypoplasia, Polyhydramnios	ORPHA:86822
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Recurrent respiratory infections	ORPHA:1806
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Hepatoblastoma, Polyhydramnios, Cryptorchidism, Pulmonary artery steno...	ORPHA:96334
Tetrasomy 5P	Recurrent respiratory infections, Hydrocephalus, High palate, Pulmonary hypoplasia	ORPHA:3309
Reynolds Syndrome	Calcinosis, Hyperbilirubinemia	OMIM:613471
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Pulmonary hypoplasia, Dysphagia	OMIM:615636
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Edema, H...	OMIM:609049
You-Hoover-Fong Syndrome	Coarctation of aorta, Cleft palate, Double aortic arch, Vascular ring	OMIM:616954
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Atelosteogenesis Type I	Malrotation of colon, Cleft palate, Pulmonary hypoplasia, Polyhydramnios	ORPHA:1190
Fanconi Anemia, Complementation Group D2	Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Esophageal atresia, Tracheoesophageal fi...	OMIM:227646
Diaphanospondylodysostosis	Increased nuchal translucency, Pulmonary hypoplasia, Cleft palate, Oligohydramnios	OMIM:608022
Maternal Uniparental Disomy Of Chromosome 2	Bilateral cryptorchidism, Respiratory infections in early life, Pulmonary hypoplasia, Oligohydram...	ORPHA:96179
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microphthalmia, Iris col...	ORPHA:2250
Papillorenal Syndrome	Microphthalmia, Optic disc coloboma, Retinal coloboma, Edema	OMIM:120330
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Alg9-Cdg	Villous atrophy, Ventricular septal defect, Pericardial effusion, Abnormal lung lobation, Hydrops...	ORPHA:79328
Fraser Syndrome	Encephalocele, Anal stenosis, Anophthalmia, Cryptorchidism, Myelomeningocele, Abnormal lung lobat...	ORPHA:2052
Odontochondrodysplasia 1	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:184260
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hypoplasia of the small intestine, Pulmonary hypoplasia, Extrapulmonary seques...	OMIM:200995
Cranioectodermal Dysplasia 2	Hyperbilirubinemia	OMIM:613610
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Hydrolethalus Syndrome 1	Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Anencephaly, A...	OMIM:236680
Holoprosencephaly 2	Median cleft lip and palate, Remnants of the hyaloid vascular system, Alobar holoprosencephaly, S...	OMIM:157170
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia, Rect...	OMIM:600145
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula...	OMIM:619708
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, High, nar...	OMIM:214100
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Abnormal heart valve morphology, Optic nerve hypoplasia, Lymphedema, Crypt...	ORPHA:536471
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Bifid uvula, Cryptorchidism	OMIM:241410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Hydrocephalus	OMIM:616538
Refsum Disease	Microphthalmia, Cardiomyopathy	ORPHA:773
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Esophageal varix, Dehydration, Pulmonary hypoplasia, Oligohydramnios	OMIM:263200
Caudal Regression Syndrome	Cryptorchidism, Pulmonary hypoplasia, Anal atresia	ORPHA:3027
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Tarp Syndrome	Cryptorchidism, Cleft palate, Tongue nodules, Glossoptosis, Pulmonary hypoplasia, Abnormal duoden...	ORPHA:2886
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia	ORPHA:163956
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Cryptorchidism, Hydrocephalus, Bilateral...	ORPHA:3472
Neu-Laxova Syndrome	Polyhydramnios, Spina bifida, Submucous cleft hard palate, Cleft palate, Pulmonary hypoplasia, Bi...	ORPHA:2671
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Malabsorption, Optic disc coloboma, Cleft palate, Gastroesop...	ORPHA:50
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Degcags Syndrome	Ventricular septal defect, Pneumonia, Polyhydramnios, Protruding tongue, Oral-pharyngeal dysphagi...	OMIM:619488
Senior-Boichis Syndrome	Increased total bilirubin	ORPHA:84081
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Edema, Lymphedema, Chylothorax, Atrial septal defect, Microphthalmia, Pleural effusion	ORPHA:2526
Meier-Gorlin Syndrome 7	Anal stenosis, Ventricular septal defect, Cryptorchidism, Complete atrioventricular canal defect,...	OMIM:617063
Cousin Syndrome	Hydrocephalus, Cleft palate, Hydranencephaly, Microphthalmia, Microglossia	OMIM:260660
Genitopatellar Syndrome	Atrial septal defect, Cryptorchidism, Gastroesophageal reflux, Pulmonary hypoplasia	ORPHA:85201
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Pulmonary hypoplasia, Polyhydramnios	OMIM:615503
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Polyhydramnios, Edema	OMIM:302960
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Anophthalmia, Cryptorchidism, Myelomeningocel...	OMIM:219000
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Achondrogenesis, Type Ia	Polyhydramnios, Protruding tongue, Increased nuchal translucency, Hydrops fetalis, Pulmonary hypo...	OMIM:200600
Gaucher Disease, Type Ii	Gastroesophageal reflux, Dysphagia, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic ...	OMIM:230900
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	OMIM:248450
Galloway-Mowat Syndrome 1	Hiatus hernia, Hypoplasia of the iris, High palate, Microphthalmia, Oligohydramnios	OMIM:251300
Congenital Myopathy 22B, Severe Fetal	Nonimmune hydrops fetalis, Polyhydramnios, High palate, Pulmonary hypoplasia, Pleural effusion, A...	OMIM:620369
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Frontal ence...	OMIM:268300
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Hydrops fetalis, Cleft pa...	OMIM:263520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Buphthalmos, Coloboma, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Congenital Myopathy 17	Polyhydramnios, Respiratory tract infection, Cleft palate, High palate, Pulmonary hypoplasia	OMIM:618975
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Protruding tongue, Hydrops fetalis, Coarctation of aorta, Pulmonary hypoplasia	ORPHA:50945
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Cleft palate	OMIM:620098
Penile Agenesis	Ventricular septal defect, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal f...	ORPHA:49
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia, Cardiomegaly	OMIM:620306
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Glycosuria,...	ORPHA:447
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:221900
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Pulmonary hypoplasia, Polyhydramnios	OMIM:151210
Congenital Erythropoietic Porphyria	Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi...	ORPHA:79277
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Achondroplasia	Hydrocephalus, Pulmonary hypoplasia, Polyhydramnios	OMIM:100800
Hardikar Syndrome	Hyperbilirubinemia	OMIM:301068
Dubowitz Syndrome	Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Hypoplasia of the iris...	OMIM:223370
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Unconjugated hyperbilirubinemia	OMIM:618278
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Cleft ...	OMIM:139210
Ohdo Syndrome, X-Linked	Microphthalmia, High palate, Hiatus hernia, Cryptorchidism	OMIM:300895
Mend Syndrome	Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology, High palate, Microphthalm...	ORPHA:401973
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, High palate, Cleft palate, Cryptorchidism	OMIM:614230
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia, Bifid uvula, Iris coloboma	OMIM:229400
Fanconi Anemia, Complementation Group L	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Microphthalmia, Anal ...	OMIM:614083
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Intestinal obstruction, Malabsorption	OMIM:601675
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Hydro...	OMIM:164210
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Proximal Renal Tubular Acidosis	Coloboma, Malabsorption, Dehydration, Subvalvular aortic stenosis	ORPHA:47159
Fraser Syndrome 2	Intestinal malrotation, Rectal atresia, Microphthalmia, Anal atresia, Oligohydramnios	OMIM:617666
8Q21.11 Microdeletion Syndrome	Microphthalmia, High palate, Cryptorchidism	ORPHA:284160
Fetal Akinesia Deformation Sequence 1	Nonimmune hydrops fetalis, Polyhydramnios, Cryptorchidism, Hydrocephalus, Increased nuchal transl...	OMIM:208150
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Warburg Micro Syndrome 2	Microphthalmia, Cryptorchidism	OMIM:614225
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Patent ...	OMIM:270400
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Aganglionic megacolon, Cryptorchidism, High, narrow palate, ...	OMIM:309800
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Pallister-Hall Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal lung lobation, Micr...	ORPHA:672
Rodrigues Blindness	Microphthalmia	OMIM:268320
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Malabsorption, Cryptorchidism, Atelectasis, Dehydration, Narrow...	ORPHA:534
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia, Tetralogy of Fallot, Cleft palate	ORPHA:306542
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Persistent cloaca, Patent ductus arteriosus, Pulmonary hypoplasia, Oligohydramnios	ORPHA:1112
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Focal Dermal Hypoplasia	Anophthalmia, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Myelomeningocele, Hydrocepha...	OMIM:305600
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Cleft palate, Bilateral clef...	OMIM:610829
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Cleft palate, High, narrow palate	ORPHA:2714
Orofaciodigital Syndrome Type 4	Decreased testicular size, Recurrent respiratory infections, Monorchism, High, narrow palate, Sub...	ORPHA:2753
Fanconi Anemia, Complementation Group E	Microphthalmia, Abnormal heart morphology, Cryptorchidism	OMIM:600901
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac sept...	ORPHA:2556
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, High palate, Cleft palate	OMIM:156610
Momo Syndrome	Bilateral microphthalmos, High palate, Chorioretinal coloboma	ORPHA:2563
Holoprosencephaly 1	Median cleft lip and palate, Alobar holoprosencephaly, Microphthalmia, Cyclopia, Ethmocephaly, Si...	OMIM:236100
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Prominent superficial veins	OMIM:601812
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Microglossia, Cleft palate, Oligohydramnios	ORPHA:364577
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Microphthalmia, Iris coloboma, Holoprosencephaly	ORPHA:1587
Fanconi Anemia, Complementation Group A	Microphthalmia, Abnormal heart morphology, Cryptorchidism	OMIM:227650
Monosomy 9Q22.3	Microphthalmia, Hydrocephalus, Umbilical hernia, Cardiac fibroma	ORPHA:77301
Teebi-Shaltout Syndrome	Ventricular septal defect, High, narrow palate, Cleft palate, Microphthalmia, Aortic valve stenosis	OMIM:272950
Trichothiodystrophy	Ventricular septal defect, Cryptorchidism, Recurrent bronchopulmonary infections, Bilateral micro...	ORPHA:33364
Microphthalmia With Limb Anomalies	Venous insufficiency, Cryptorchidism, Hydrocephalus, Cleft palate, High palate, Microphthalmia, T...	ORPHA:1106
Multiple Pterygium Syndrome, Escobar Variant	Cryptorchidism, Hydrops fetalis, Cleft palate, High palate, Pulmonary hypoplasia, Umbilical hernia	OMIM:265000
Hallermann-Streiff Syndrome	High, narrow palate, Cryptorchidism, Glossoptosis, Abdominal situs inversus, Microphthalmia	ORPHA:2108
Cockayne Syndrome Type 3	Subdural hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Gastroesophageal reflux, Micro...	ORPHA:90324
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Ventricular septal defect, Ventricular septal hypertrophy, Clef...	OMIM:608670
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Fetal ascites, Cleft soft palate, Ascending aorta hypo...	OMIM:619503
Stuve-Wiedemann Syndrome 1	Pulmonary arterial medial hypertrophy, Smooth tongue, Pulmonary hypoplasia, Dysphagia, Oligohydra...	OMIM:601559
Greenberg Dysplasia	Nonimmune hydrops fetalis, Polyhydramnios, Large placenta, Increased nuchal translucency, Abnorma...	OMIM:215140
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As...	ORPHA:402075
Townes-Brocks Syndrome	Rectoperineal fistula, Abnormal pulmonary valve morphology, Cryptorchidism, Patent ductus arterio...	ORPHA:857
Floating-Harbor Syndrome	Celiac disease, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Umbilical hernia, Mes...	OMIM:136140
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Hypoplastic aortic arch, Optic nerve hypoplasia	ORPHA:457284
Atelosteogenesis Type Ii	Cleft palate, Bilateral cleft palate, Pulmonary hypoplasia, Polyhydramnios	ORPHA:56304
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy	OMIM:300952
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Microphthalmia, Patent foramen ovale	OMIM:620005
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Cryptorchidism, High palate, Total anomalous pulmonary venous return, Atrial septal defect, Micro...	OMIM:609945
Raine Syndrome	Protruding tongue, Hydrocephalus, Cleft palate, High palate, Pulmonary hypoplasia	OMIM:259775
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Microphthalmia, Syndromic 6	Anophthalmia, Cryptorchidism, Cleft palate, Coloboma, High palate, Microphthalmia, Microglossia, ...	OMIM:607932
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ...	OMIM:612474
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1236
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Multiple Acyl-Coa Dehydrogenase Deficiency	Pulmonary hypoplasia	OMIM:231680
Fanconi Anemia, Complementation Group C	Microphthalmia, Ventricular septal defect, Cryptorchidism	OMIM:227645
Floating-Harbor Syndrome	Mesocardia, Cryptorchidism, Celiac disease, Coarctation of aorta, Gastroesophageal reflux, Atrial...	ORPHA:2044
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Spontaneous pneumothorax, Recurrent pneumonia, E...	ORPHA:731
Osteogenesis Imperfecta	Abnormal endocardium morphology, Intestinal obstruction, Cerebral hemorrhage, Hydrocephalus, Nonc...	ORPHA:666
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia, Anal atresia, Oligohydramnios	OMIM:271520
Bartsocas-Papas Syndrome 1	Anal stenosis, Bilateral cryptorchidism, Cleft palate, Microphthalmia, Patent foramen ovale, Anal...	OMIM:263650
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti...	OMIM:157800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Umbilical hernia, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Single ventricle	OMIM:308050
Restrictive Dermopathy 1	Polyhydramnios, Patent ductus arteriosus, Submucous cleft hard palate, Hydropic placenta, Pulmona...	OMIM:275210
Schinzel-Giedion Syndrome	Aganglionic megacolon, Recurrent pneumonia, Abnormal heart morphology, Anteriorly placed anus, Ne...	ORPHA:798
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Rothmund-Thomson Syndrome, Type 2	Anteriorly placed anus, Microphthalmia, High palate, Cryptorchidism	OMIM:268400
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Short uvula, Lens coloboma, Sub...	OMIM:619539
Roberts Syndrome	Polyhydramnios, Cryptorchidism, Cleft palate, High palate, Microphthalmia	ORPHA:3103
Oculodentodigital Dysplasia	Atrial septal defect, Microphthalmia, High palate, Cleft palate	OMIM:164200
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Cleft hard palate, Abnormality of the pulmonary artery, Bifid uvula, Iris ...	ORPHA:261537
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Mowat-Wilson Syndrome	Bicuspid aortic valve, Cleft hard palate, Gastrointestinal dysmotility, Bifid uvula, Iris colobom...	ORPHA:2152
Lethal Congenital Contracture Syndrome 9	Pulmonary hypoplasia, Short umbilical cord, Polyhydramnios	OMIM:616503
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Cleft hard palate, Abnormality of the pulmonary artery, Bifid uvula, Iris ...	ORPHA:261552
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Lobar holoprosencephaly, Duoden...	ORPHA:468631
Acrorenal-Mandibular Syndrome	High palate, Pulmonary hypoplasia, Narrow palate, Oligohydramnios	OMIM:200980
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia, Normal pressure hydrocephalus, Cryptorchidism	OMIM:133540
Branchiooculofacial Syndrome	Anophthalmia, Malrotation of colon, Cryptorchidism, Pyloric stenosis, Cleft palate, Branchial ano...	OMIM:113620
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Increased axial length of the globe, Cleft palate, Right aortic arch, ...	ORPHA:513456
Genitopatellar Syndrome	Anal stenosis, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Malrotation of small bo...	OMIM:606170
Cockayne Syndrome	Cryptorchidism, Retinal arteriolar constriction, Gastroesophageal reflux, Microphthalmia, Vascula...	ORPHA:191
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Monosomy 9P	Microphthalmia, High palate, Cleft palate, Cryptorchidism	ORPHA:261112
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Witteveen-Kolk Syndrome	Branchial fistula, Unilateral cryptorchidism, Polyhydramnios, High, narrow palate, Intracranial h...	OMIM:613406
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Cleft palate	OMIM:201180
Dpagt1-Cdg	Intracranial hemorrhage, Anasarca, Pulmonary hypoplasia, Stroke-like episode	ORPHA:86309
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pyloric stenosis, Cryptorchidism, Cleft palate, Perimembranous ventricular septal defect, Pulmona...	ORPHA:83617
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Diabetes mellitus, Hypocalcemia, Increased VLDL cholesterol concen...	OMIM:243800
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Abnormal heart morphol...	OMIM:154500
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, High palate, Bifid uvula	OMIM:601552
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Cleft palate, Cryptorchidism	OMIM:616734
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal...	OMIM:175780
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Ventricular septal defect	OMIM:259770
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cryptorchidism, Esophageal atresia, Hydrops fetalis, Ectopic anus, Pulmonary hypoplasia, Bifid to...	ORPHA:93271
Norrie Disease	Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Venous insufficiency, Cr...	ORPHA:649
Ulbright-Hodes Syndrome	Cryptorchidism, Pneumothorax, High palate, Pulmonary hypoplasia, Oligohydramnios	ORPHA:3404
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Pallister-Killian Syndrome	Anal stenosis, Edema of the dorsum of feet, Ventricular septal defect, Intestinal malrotation, Po...	OMIM:601803
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Decreased testicular size	ORPHA:93325
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Cryptorchidism	OMIM:309000

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dynll1

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 Dynll1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dynll1^{tm1(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Dynll1^{tm1(KOMP)Wtsi}	PMC6459510

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

MGI Allele	Allele Type	Produced
Dynll1^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells
Dynll1^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dynll1 MGI:1861457

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Legacy Phenotype Associated Images

Human diseases caused by Dynll1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data