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Gene: Dynll1 MGI:1861457

Gene Summary

Name:

dynein light chain LC8-type 1

Synonyms:

DLC8, Dnclc1, Pin, 8kDa LC

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
decreased circulating fructosamine level	Dynll1^{tm1(KOMP)Wtsi}	HET	Early adult	1.66×10^-05
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
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

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Viewing: all phenotypes

X-ray

XRay Images Whole Body Dorso Ventral

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 (911 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	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
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
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran...	OMIM:606217
Rotor Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:3111
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:620010
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79234
Ciliary Dyskinesia, Primary, 17	Dynein arm defect of respiratory motile cilia, Situs inversus totalis, Dextrocardia, Recurrent re...	OMIM:614679
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ...	ORPHA:79299
Ciliary Dyskinesia, Primary, 7	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Situs inversus t...	OMIM:611884
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest...	OMIM:619868
Microphthalmia/Coloboma 4	Coloboma, Microphthalmia	OMIM:251505
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta, Macular coloboma, Retinal coloboma	OMIM:107550
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re...	OMIM:616037
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Malaria	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia	ORPHA:673
Scimitar Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le...	ORPHA:185
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:610021
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Persistent left superior vena cava, Tracheoesophageal fistula, Eso...	OMIM:314390
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Bronchiectasis, Dextrocardia, Absent inner and outer dynein arms	OMIM:618063
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Gastroesophageal reflux, Situs inversus totalis, Recurrent sinusitis, Chroni...	OMIM:615482
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia	OMIM:617577
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def...	OMIM:617205
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall...	OMIM:618300
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Abnor...	OMIM:208530
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Dextrocardia, Absent inner and o...	OMIM:615444
Thoraco-Abdominal Enteric Duplication	Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Men...	ORPHA:1759
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Truncus arter...	OMIM:617478
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Microphthalmia/Coloboma 5	Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Holoprosencephaly...	OMIM:611638
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se...	OMIM:265380
Glycogen Storage Disease Vi	Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia	OMIM:232700
Heterotaxy, Visceral, 4, Autosomal	Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri...	OMIM:613751
Dextrocardia	Meckel diverticulum, Abnormality of abdominal situs, Abnormal lung lobation, Intestinal malrotati...	ORPHA:1666
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Occipital encephalocele, Hydrocephalus, Microphthalmia	ORPHA:324416
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Left superior vena c...	OMIM:306955
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms, Recurrent respiratory i...	OMIM:606763
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Intestinal malrotation, Anophthalmia, Ventricular septal defect, Microph...	OMIM:615524
Cardiac-Urogenital Syndrome	Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Intestinal malrotati...	OMIM:618280
Heart And Brain Malformation Syndrome	High, narrow palate, Interrupted aortic arch, Gastroesophageal reflux, Ventricular septal defect,...	OMIM:616920
Gombo Syndrome	Abnormal heart morphology, Microphthalmia	OMIM:233270
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat...	OMIM:607941
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Recurrent respiratory infections, Median cleft palate, Microphthalmia	ORPHA:2432
Microphthalmia, Isolated 4	Coloboma, Microphthalmia	OMIM:613094
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie...	OMIM:192430
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,...	OMIM:615160
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Anal stenosis, Aplasia of posterior communicating artery, Myelomenin...	OMIM:613686
Adams-Oliver Syndrome 4	Umbilical hernia, Ventricular septal defect, Atrial septal defect, Microphthalmia, Patent ductus ...	OMIM:615297
Facial Clefting, Oblique, 1	Coloboma, Cleft palate, Microphthalmia	OMIM:600251
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Biemond Syndrome Type 2	Coloboma, Hydrocephalus, Microphthalmia	ORPHA:141333
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv...	OMIM:615067
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
22Q11.2 Duplication Syndrome	Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, ...	ORPHA:1727
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Ankyloglossia, Hydrocephalus, Abnormal cardiac septum morphology, Microp...	ORPHA:250989
Czeizel-Losonci Syndrome	Myelomeningocele, Tracheoesophageal fistula, Spina bifida, Hydrocephalus, Dextrocardia, Spina bif...	ORPHA:2437
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Polyhydramnios, Pulmonary hypoplasia, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:613124
Mosaic Trisomy 9	Abnormal lung lobation, Intestinal malrotation, Abnormal heart valve morphology, Oligohydramnios,...	ORPHA:99776
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration	OMIM:601775
Short Stature-Wormian Bones-Dextrocardia Syndrome	Anal atresia, Patent ductus arteriosus, Dextrocardia, High palate	ORPHA:2863
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr...	OMIM:620211
Pseudotrisomy 13 Syndrome	Cyclopia, Median cleft palate, Encephalocele, Complete atrioventricular canal defect, Ventricular...	OMIM:264480
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Left superior vena cava draining directly to the left atrium, Unbalanced atrioventricular canal d...	OMIM:619657
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Interrupted aortic arch, Microcolon, Total absence of the pericardium, Hypopla...	OMIM:600001
Renal Tubular Dysgenesis	Polyhydramnios, Tetralogy of Fallot, Oligohydramnios, Pulmonary hypoplasia	ORPHA:3033
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Tetralogy of Fallot, Median cleft palate,...	OMIM:136760
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Oligohydramnios, Polyhydramnios, Pulmonary hypoplasia	ORPHA:3032
2Q24 Microdeletion Syndrome	Coloboma, Cleft palate, Microphthalmia	ORPHA:1617
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ...	ORPHA:2257
Joubert Syndrome 15	Coloboma, Exencephaly	OMIM:614464
Microphthalmia/Coloboma 10	Iris coloboma, Anophthalmia, Chorioretinal coloboma, Microphthalmia	OMIM:616428
Bile Acid Synthesis Defect, Congenital, 5	Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity	OMIM:616278
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration	ORPHA:6
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Iris coloboma, Microphthalmia	OMIM:610023
Cerebrooculofacioskeletal Syndrome 3	Edema, Cleft palate, Microphthalmia	OMIM:616570
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Microphthalmia	OMIM:274270
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration	ORPHA:446
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Abdominal situs inversus, Intestinal malrotation, Dextro...	OMIM:270100
Microphthalmia/Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:614497
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi...	ORPHA:35878
Meacham Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Congenital alveolar dysplasia, Scimitar anomaly, Rig...	OMIM:608978
Lipoyltransferase 1 Deficiency	Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin	OMIM:616299
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Intestinal malrota...	OMIM:605376
Coloboma Of Macula With Type B Brachydactyly	Coloboma	OMIM:120400
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Recurrent respiratory infections, Dextrocardia	OMIM:106700
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A...	ORPHA:1686
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Coloboma, Atrial septal defect, Mi...	OMIM:618652
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Absent central microtubular pai...	OMIM:620032
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine...	OMIM:614300
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbil...	ORPHA:2255
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Bicuspid aortic valve, Coloboma, Anal atresia	OMIM:619318
Marden-Walker Syndrome	High, narrow palate, Pulmonary hypoplasia, Zollinger-Ellison syndrome, Dextrocardia, Microphthalm...	OMIM:248700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc...	ORPHA:766
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Type II diabetes mellitus, Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, In...	OMIM:616860
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma	OMIM:618295
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Pu...	OMIM:220210
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Iris coloboma, Cleft palate, Chorioretinal coloboma	OMIM:120433
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Anomalous origin of rig...	ORPHA:99050
Charge Syndrome	Interrupted aortic arch, Iris coloboma, Gastroesophageal reflux, Chorioretinal coloboma, Umbilica...	ORPHA:138
Cat Eye Syndrome	Hypoplastic left heart, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticul...	OMIM:115470
Feingold Syndrome Type 1	Interrupted aortic arch, Tricuspid stenosis, Abnormal heart morphology, Multiple muscular ventric...	ORPHA:391641
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Tetralogy of Fallot, Abnormal heart morphology, Part...	ORPHA:2847
Xk Aprosencephaly Syndrome	Ventricular septal defect, Atrial septal defect, Microphthalmia, Polyhydramnios, Anal atresia	ORPHA:3469
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent foramen ovale, Polyhydramnios, Dysphagia, Patent ductus arteriosus, Pulmonary hypoplasia	OMIM:616867
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Hyperbilirubinemia	OMIM:609734
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Abnormal mitochondrial shape, Gastroesophageal reflux, Hypertrophic card...	ORPHA:17
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia	ORPHA:95715
Ciliary Dyskinesia, Primary, 28	Dynein arm defect of respiratory motile cilia, Situs inversus totalis, Recurrent sinusitis, Chron...	OMIM:615505
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis, Absent inner dynein arms, Bron...	OMIM:613193
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Abruzzo-Erickson Syndrome	Coloboma, Cleft palate	OMIM:302905
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Ventricular septal defect, Bilateral cleft palate, Coloboma, Holoprosence...	OMIM:601357
Thoracoabdominal Syndrome	Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Anencephaly, Patent ductus ar...	OMIM:313850
Alg3-Cdg	Cardiomyopathy, Abnormality of the gastrointestinal tract, Coarctation of the descending aortic a...	ORPHA:79321
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:266120
Joubert Syndrome With Ocular Defect	Retinal coloboma, Encephalocele, Aganglionic megacolon, Hydrocephalus, Dextrocardia, Iris colobom...	ORPHA:220493
Meckel Syndrome, Type 8	Occipital encephalocele, Anophthalmia, Encephalocele, Microphthalmia, Pericardial effusion, Cleft...	OMIM:613885
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration	OMIM:618892
Feingold Syndrome 1	Interrupted aortic arch, Tricuspid stenosis, Jejunal atresia, Ventricular septal defect, Patent d...	OMIM:164280
Pontocerebellar Hypoplasia, Type 11	Anal atresia, Coloboma, Dysphagia, Recurrent respiratory infections	OMIM:617695
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Coloboma, Hydrocephalus, Microphthalmia	OMIM:613153
Abruzzo-Erickson Syndrome	Chorioretinal coloboma, Coloboma, Atrial septal defect, Iris coloboma, Cleft palate	ORPHA:921
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft palate	OMIM:600776
Microphthalmia/Coloboma 3	Iris coloboma, Microphthalmia	OMIM:610092
Lethal Congenital Contracture Syndrome 11	Polyhydramnios, Pulmonary hypoplasia	OMIM:617194
Joubert Syndrome 16	Coloboma, Encephalocele	OMIM:614465
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Fanconi-Bickel Syndrome	Hypouricemia, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac...	OMIM:227810
Verheij Syndrome	Branchial cyst, Truncus arteriosus, Ventricular septal defect, Coloboma, Cleft palate, Optic nerv...	OMIM:615583
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Dextrocardia, Ventricular septal defect	OMIM:618067
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ...	OMIM:613854
Esophageal Atresia	Esophagitis, Abnormal gastrointestinal tract morphology, Ventricular septal defect, Dysphagia, Du...	ORPHA:1199
Agnathia-Otocephaly Complex	Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Polyhydramnios, Ho...	OMIM:202650
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugat...	OMIM:617156
Fryns Syndrome	Abnormal aortic arch morphology, Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fa...	ORPHA:2059
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia	ORPHA:1528
Perlman Syndrome	Interrupted aortic arch, Distal ileal atresia, Volvulus, Ascites, Polyhydramnios, Edema	OMIM:267000
Rh-Null, Amorph Type	Hyperbilirubinemia	OMIM:617970
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Coloboma, Hydrocephalus, Meningocele, Microphthalmia, I...	OMIM:614424
Cat-Eye Syndrome	Anal atresia, Iris coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:195
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Hydroceph...	ORPHA:77298
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Situs inversus totalis, Recurrent sinusitis, Short sperm flagella,...	OMIM:620438
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	ORPHA:228190
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperuricemia, Hyperalaninemia, Fasting hypoglycemia, ...	ORPHA:348
Propionic Acidemia	Hyperammonemia, Hypoglycemia	ORPHA:35
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ...	ORPHA:158057
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Hypoglycemia	ORPHA:664
Bachmann-Bupp Syndrome	Hyperbilirubinemia, Hypoglycemia	OMIM:619075
Isotretinoin-Like Syndrome	Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Gastr...	ORPHA:2306
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial...	ORPHA:216694
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Cardiomyopathy, Coloboma, Hydrocephalus, Microphthalmia, Macroglossia, O...	ORPHA:370959
Ciliary Dyskinesia, Primary, 18	Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Absent...	OMIM:614874
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary hypoplasia, Cardiomyopathy, Nonimmune hydrops fetalis	OMIM:619003
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Situs inversus t...	OMIM:613807
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Microphthalmia, Syndromic 13	Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:300915
Stevenson-Carey Syndrome	Gastroesophageal reflux, Coloboma, Atrial septal defect, Left superior vena cava draining to coro...	OMIM:611961
Temtamy Syndrome	Aortic aneurysm, Iris coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:1777
Trisomy 13	High, narrow palate, Abnormal lung lobation, Anophthalmia, Aplasia/Hypoplasia of the iris, Ventri...	ORPHA:3378
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Oligohydramnios, Situ...	OMIM:615415
Ciliary Dyskinesia, Primary, 26	Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections...	OMIM:615500
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia	OMIM:269920
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Gastroesophageal reflux, Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Bicus...	ORPHA:329224
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Pulmonary hypoplasia, Cleft palate, Abnormal lung lobation	ORPHA:2631
Glycogen Storage Disease Vii	Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232800
Ciliary Dyskinesia, Primary, 9	Pneumonia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Absent outer dynein arms	OMIM:612444
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Gastroesophageal reflux, Anteriorly placed anus, Abnormal heart morphology, ...	OMIM:618494
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	OMIM:604381
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Congenital Tracheal Stenosis	Hypoplastic left heart, Fetal ascites, Abnormal lung morphology, Meckel diverticulum, Duodenal st...	ORPHA:141127
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves...	OMIM:601186
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Hydrocephalus, Microphthalmia	ORPHA:858
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Intracra...	ORPHA:163979
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Hypoglycemia	ORPHA:73272
Nanophthalmos	Microphthalmia	ORPHA:35612
Encephalocraniocutaneous Lipomatosis	Interrupted aortic arch, Aortic valve stenosis, Abnormal aortic morphology, Tricuspid valve prola...	ORPHA:2396
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Thanatophoric Dysplasia	Increased nuchal translucency, Hydrocephalus, Atrial septal defect, Polyhydramnios, Patent ductus...	ORPHA:2655
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly, Pulmonary hypoplasia	OMIM:614096
15Q24 Microdeletion Syndrome	Myelomeningocele, Abnormal heart morphology, Coloboma, Intestinal atresia, Anal atresia	ORPHA:94065
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Abnormality of the pulmonary artery, Ventricular septal defect, A...	ORPHA:290
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Microphthalmia, Patent ductus arteriosus, Duodenal stenosis	ORPHA:2547
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Microcephaly-Microcornea Syndrome, Seemanova Type	High palate, Microphthalmia	ORPHA:2528
Joubert Syndrome 22	Coloboma, Microphthalmia	OMIM:615665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Furrowed tongue, Atrioventricula...	ORPHA:453499
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Microphthalmia, Me...	OMIM:611134
Absence Of The Pulmonary Artery	Recurrent pneumonia, Abnormal coronary artery morphology, Tetralogy of Fallot, Abnormal inferior ...	ORPHA:980
Coach Syndrome 2	Coloboma, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia, Absent uvula	OMIM:616531
Mmep Syndrome	Ventricular septal defect, Microphthalmia	ORPHA:3434
Oculocerebrocutaneous Syndrome	Anophthalmia, Orbital encephalocele, Cleft palate, Microphthalmia	OMIM:164180
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial septal defect, H...	OMIM:601927
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Glycogen Storage Disease Ixa1	Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia	OMIM:235555
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Bronchiectasis	OMIM:615451
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Phaver Syndrome	Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresia, Hypo...	ORPHA:2876
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Bilateral cleft palate	ORPHA:1473
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Congenital Bile Acid Synthesis Defect Type 2	Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration	ORPHA:79303
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Pulmonary hypoplasia	OMIM:618174
Bile Acid Synthesis Defect, Congenital, 4	Hyperbilirubinemia, Decreased serum bile acid concentration	OMIM:214950
Mitchell-Riley Syndrome	Hyperglycemia, Hyperbilirubinemia, Diabetes mellitus	OMIM:615710
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis	OMIM:615872
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyperammonemia...	ORPHA:1667
Baraitser-Winter Syndrome 2	Coloboma, Microphthalmia	OMIM:614583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Microphthalmia	OMIM:614830
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619685
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Abdominal situs inversus, Right aortic arch, Situs inversus totalis, Patent ...	OMIM:620642
Solitary Median Maxillary Central Incisor	Anophthalmia, Coloboma, Microphthalmia, Cyclopia, Holoprosencephaly	OMIM:147250
Cataract 9, Multiple Types	Iris coloboma, Microphthalmia	OMIM:604219
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Situs inversus t...	OMIM:613808
Hartsfield Syndrome	Lobar holoprosencephaly, Encephalocele, Cleft palate, Microphthalmia	ORPHA:2117
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Microphthalmia, Polyhydra...	ORPHA:3301
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fallot, Pat...	OMIM:618316
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, High palate, Coarctation of aorta, Dextrocardia	OMIM:618929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Hydrocephalus, Cardiomyopathy, Microphthalmia	OMIM:613155
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity	ORPHA:98870
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Hypoglycemia, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia	OMIM:617093
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Pulmonary hypoplasia	OMIM:615228
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Bronchiectasis, Situs inversus totalis, Absent respiratory cili...	OMIM:616481
Primary Ciliary Dyskinesia	Atelectasis, Atrial situs ambiguous, Intestinal malrotation, Abnormal inferior vena cava morpholo...	ORPHA:244
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype...	ORPHA:3008
Proximal 16P11.2 Microdeletion Syndrome	Gastroesophageal reflux, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial sept...	ORPHA:261197
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal...	ORPHA:1908
Craniofacioskeletal Syndrome	Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosu...	OMIM:300712
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hypoglycemia, Increased total bilirubin, Elevated circulating creatinine concentration, Decreased...	OMIM:608836
Digeorge Syndrome	High, narrow palate, Bifid uvula, Recurrent pneumonia, Gastroesophageal reflux, Interrupted aorti...	OMIM:188400
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Bronchiectasis, Absent outer dynein arms	OMIM:614017
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ...	ORPHA:1457
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Genitopalatocardiac Syndrome	Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the...	OMIM:231060
Kapur-Toriello Syndrome	Retinal coloboma, Intestinal malrotation, Tetralogy of Fallot, Ventricular septal defect, Microph...	ORPHA:2328
Johanson-Blizzard Syndrome	Anteriorly placed anus, Abnormal cardiac septum morphology, Dextrocardia, Anal atresia, Edema	ORPHA:2315
Poland Syndrome	Dextrocardia	OMIM:173800
Meckel Syndrome, Type 2	Intestinal malrotation, Encephalocele, Microphthalmia, Meningocele, Anencephaly, Cleft palate	OMIM:603194
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Arteriovenous malformation, Ascites, Tetralogy of Fallot, Abnormal p...	ORPHA:974
Diarrhea 10, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Hematochezia, Recurrent upper respiratory tract infections, Anasarca,...	OMIM:618183
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Intestinal malrotation, Abnormal lung lobation, Cyclopia, Encephalocele, Hydroc...	ORPHA:2166
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Absent inner and outer dynein ar...	OMIM:614935
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Abnormal central microtubular pair morphology of respiratory mo...	OMIM:612650
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven...	ORPHA:99125
Pallister-Hall-Like Syndrome	Microglossia, Occipital encephalocele, Hydrocephalus, Cleft palate, Pulmonary hypoplasia	OMIM:241800
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga...	ORPHA:95430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Coloboma, Hydrocephalus, Abnormally large globe, Microphthalmia	OMIM:615249
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Dextrocardia, Patent ductus arteriosus, Pyloric stenosis	ORPHA:1571
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir...	OMIM:619662
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hyperbilirubinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concent...	OMIM:251880
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Situs inversus totalis, Recurrent sinusitis, Short sperm flagella, Recurrent respiratory infectio...	OMIM:620197
Nanophthalmos 4	Microphthalmia	OMIM:615972
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, In...	ORPHA:449400
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Polyhydramnios, High palate, Hydrops fetalis, Pulmonary hypoplasia	OMIM:255320
Serkal Syndrome	Malrotation of small bowel, Oligohydramnios, Ventricular septal defect, Pulmonic stenosis, Pulmon...	ORPHA:139466
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Coloboma, Hypopl...	ORPHA:2334
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Vacterl With Hydrocephalus	Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Spina bifida, Hydrocephalus, Microph...	ORPHA:3412
Bardet-Biedl Syndrome 17	Situs inversus totalis, Dextrocardia	OMIM:615994
17Q12 Microduplication Syndrome	Tracheoesophageal fistula, Atrial septal defect, Microphthalmia, Polyhydramnios, Cleft palate	ORPHA:261272
Hypermanganesemia With Dystonia 1	Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity	OMIM:613280
Oculofaciocardiodental Syndrome	Peripheral pulmonary artery stenosis, Intestinal malrotation, Submucous cleft hard palate, Mitral...	ORPHA:2712
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia, Hydrocephalus, Retinal coloboma	OMIM:601794
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Coloboma, Transposition of the great arteries, Patent foramen ovale	OMIM:616789
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Oligohydramnios, Pulmonary hypoplasia	OMIM:616733
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Nonimmune hydr...	OMIM:153400
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia	ORPHA:95716
Pentalogy Of Cantrell	Tetralogy of Fallot, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, H...	ORPHA:1335
Ciliary Dyskinesia, Primary, 10	Recurrent sinusitis, Situs inversus totalis, Abnormal respiratory motile cilium morphology	OMIM:612518
Ciliary Dyskinesia, Primary, 27	Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections...	OMIM:615504
Coach Syndrome 1	Occipital encephalocele, Encephalocele, Coloboma, Vascular dilatation, Esophageal varix	OMIM:216360
Fliedner-Zweier Syndrome	Hypoplastic aortic arch, Ventricular septal defect, Bicuspid aortic valve, Anal atresia, Tracheoe...	OMIM:620511
Hydrolethalus	Bifid uvula, Anophthalmia, Submucous cleft hard palate, Hydrocephalus, Microphthalmia, Polyhydram...	ORPHA:2189
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, Oligohydramnios, Patent foramen ovale, High palate...	OMIM:616866
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Congenital Disorder Of Glycosylation, Type Iq	Coloboma, Dysphagia, Microphthalmia	OMIM:612379
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
Otodental Dysplasia	Coloboma	OMIM:166750
Chromosome 13Q33-Q34 Deletion Syndrome	Pulmonary hypoplasia, Anteriorly placed anus, Encephalocele, Left ventricular hypertrophy, Anal a...	OMIM:619148
Microphthalmia, Syndromic 2	Aortic valve stenosis, Bifid uvula, Umbilical hernia, Anophthalmia, Submucous cleft hard palate, ...	OMIM:300166
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Posterior lentic...	ORPHA:231736
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Linear Skin Defects With Multiple Congenital Anomalies 2	Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Microphthalmia	OMIM:300887
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Tracheoesophageal fistula, Atrial septal defect, Dextrocardia, High palate, Glossitis, Patent duc...	OMIM:277380
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Meckel Syndrome 14	Occipital encephalocele, Oligohydramnios, Increased nuchal translucency, Pneumothorax, Single ven...	OMIM:619879
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect, Hydrocephalus, Microphthalmia	OMIM:602501
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Pyruvate Kinase Deficiency Of Red Cells	Unconjugated hyperbilirubinemia, Reduced haptoglobin level	OMIM:266200
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Retinal coloboma, Hamartoma of tongue, Occipital meningocele, Hydrocephalus, Atrial septal defect...	OMIM:616546
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia, Glycosuria	OMIM:613404
Bresek Syndrome	Aganglionic megacolon, Hydrocephalus, Microphthalmia, Iris coloboma, Cleft palate, Optic nerve hy...	ORPHA:85284
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Ellis Van Creveld Syndrome	Emphysema, Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis...	ORPHA:289
Distal Triplication 15Q	Abnormal heart morphology, Hypoplastic aortic arch, Hydrocephalus, Atrial septal defect, High pal...	ORPHA:314588
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:601847
Multiple Pterygium Syndrome, X-Linked	Hypoplastic heart, Polyhydramnios, Cleft palate, Edema, Pulmonary hypoplasia	OMIM:312150
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Coloboma, Patent ductus arteriosus	OMIM:618659
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Dextrocardia	OMIM:613095
Mosaic Trisomy 16	Meckel diverticulum, Anteriorly placed anus, Abnormal heart morphology, Large placenta, Ventricul...	ORPHA:1708
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Cleft palate, Anencephaly	OMIM:611561
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Nasopalpebral Lipoma-Coloboma Syndrome	Coloboma, Microphthalmia	OMIM:167730
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529808
Nasopalpebral Lipoma-Coloboma Syndrome	Recurrent upper respiratory tract infections, Coloboma, Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Intrahepatic Cholestasis Of Pregnancy	Hyperbilirubinemia, Increased serum bile acid concentration	ORPHA:69665
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ascites, Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, ...	OMIM:616897
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia	OMIM:211600
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Oligohydramnios, Pulmonary hypoplasia	OMIM:236500
Tetrasomy 15Q26	Hypoplastic aortic arch, Hydrocephalus, Atrial septal defect, High palate, Patent ductus arteriosus	OMIM:614846
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Encephalocele, Abnor...	ORPHA:991
Mosaic Variegated Aneuploidy Syndrome	Abnormal lung lobation, Ascites, Stomach cancer, Intestinal polyposis, Increased nuchal transluce...	ORPHA:1052
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Abnormal heart morphology, Oligohydramnios, Polyhydramnios, Pulmonary hyp...	OMIM:263210
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Iris coloboma, Optic disc coloboma, Microphthalmia	OMIM:169550
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Abnormal lung lobation, Intestinal malrotation, Esophagiti...	ORPHA:2538
Nephronophthisis 2	Oligohydramnios, Situs inversus totalis, Pulmonary hypoplasia	OMIM:602088
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Conjugated hyperbilirubinemia	OMIM:607765
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Cofs Syndrome	Microphthalmia	ORPHA:1466
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic...	ORPHA:2248
Achondrogenesis Type 2	Edema, Pulmonary hypoplasia	ORPHA:93296
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p...	OMIM:212093
Matthew-Wood Syndrome	Duodenal stenosis, Anophthalmia, Microphthalmia, Abnormal lung morphology, Pulmonary hypoplasia	ORPHA:2470
Mycophenolate Mofetil Embryopathy	Chorioretinal coloboma, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fistul...	ORPHA:268249
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Ventricular septal defect, Dextrocardia, Aqueductal ste...	OMIM:619534
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat...	OMIM:603553
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618838
Restrictive Dermopathy	Microcolon, Small placenta, Large placenta, Short umbilical cord, Submucous cleft hard palate, Tr...	ORPHA:1662
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ...	OMIM:620570
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Multiple Pterygium Syndrome, Lethal Type	Hypoplastic heart, Polyhydramnios, Cleft palate, Edema, Pulmonary hypoplasia	OMIM:253290
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Joubert Syndrome 23	Coloboma	OMIM:616490
Lethal Congenital Contracture Syndrome 10	Oligohydramnios, Ventricular septal defect, Cardiomegaly, Overriding aorta, High palate, Macroglo...	OMIM:617022
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Retinal coloboma, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventric...	ORPHA:508498
Distal Duplication 5Q	Dextrocardia, Chorioretinal coloboma, Ventricular septal defect	ORPHA:96097
Short-Rib Thoracic Dysplasia 12	Pulmonary hypoplasia, Atelectasis, Hamartoma of tongue, Intestinal malrotation, Ascites, Median c...	OMIM:269860
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Abnormally large globe, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Vascular ...	OMIM:603387
Marden-Walker Syndrome	Bifid uvula, Situs inversus totalis, Submucous cleft hard palate, Ventricular septal defect, Abno...	ORPHA:2461
Microphthalmia, Syndromic 5	Anophthalmia, Coloboma, Microphthalmia, Cleft palate, Optic nerve hypoplasia	OMIM:610125
Focal Dermal Hypoplasia	Gastroesophageal reflux, Chorioretinal coloboma, Umbilical hernia, Hypoplasia of the iris, Ventri...	ORPHA:2092
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Bilateral lung agenesis, Oligohydramnios, Ventricular s...	OMIM:611812
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Intestinal malrotation, Dilatation of the cerebral artery, Aortic ar...	OMIM:613834
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Srd5A3-Cdg	Coloboma, Optic disc hypoplasia	ORPHA:324737
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Kapur-Toriello Syndrome	Retinal coloboma, Intestinal malrotation, Ventricular septal defect, Atrial septal defect, Microp...	OMIM:244300
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	High palate, Pulmonary hypoplasia	OMIM:617468
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Chorioretinal coloboma, Bicuspid aortic valve, Microphthalmia, Iris colobo...	OMIM:243310
Tonne-Kalscheuer Syndrome	Abnormal heart morphology, Dysphagia, Velopharyngeal insufficiency, Pulmonary hypoplasia	OMIM:300978
Lethal Congenital Contracture Syndrome 1	Edema, Pulmonary hypoplasia	OMIM:253310
Congenital Diaphragmatic Hernia	Intestinal malrotation, Pulmonary hypoplasia	ORPHA:2140
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Lymphatic Malformation 6	Facial edema, Generalized edema, Gastroesophageal reflux, Chylothorax, Lymphedema, Ascites, Intes...	OMIM:616843
Temtamy Syndrome	Aortic aneurysm, Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:218340
Rere-Related Neurodevelopmental Syndrome	Gastroesophageal reflux, Chorioretinal coloboma, Abnormal heart morphology, Ventricular septal de...	ORPHA:494344
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Dehydrated Hereditary Stomatocytosis	Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I...	ORPHA:3202
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Situs inversus totalis, Microphthalmia	OMIM:614833
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level	OMIM:613673
22Q11.2 Deletion Syndrome	Ventricular septal defect, Atrial septal defect, Microphthalmia, Anal atresia, Patent ductus arte...	ORPHA:567
Chondrodysplasia, Blomstrand Type	Polyhydramnios, Preductal coarctation of the aorta, Fetal ascites, Hydrops fetalis	OMIM:215045
Dyssegmental Dysplasia, Silverman-Handmaker Type	Abnormal heart morphology, Encephalocele, Hydrocephalus, Hydrops fetalis, Cleft palate, Pulmonary...	ORPHA:1865
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Pulmonary hypoplasia	OMIM:601163
Pierpont Syndrome	Microphthalmia	OMIM:602342
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood	OMIM:300908
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Cerebrooculofacioskeletal Syndrome 1	Recurrent pneumonia, Dehydration, Microphthalmia	OMIM:214150
Phace Association	Arterial stenosis, Ventricular septal defect, Aortic aneurysm, Coarctation of aorta, Anomalous br...	OMIM:606519
Glycogen Storage Disease Xii	Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration	OMIM:611881
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Microphthalmia, High palate, Holoprosencephaly, Cleft palate, Pulmonar...	OMIM:612530
Monosomy 18P	Microphthalmia, Holoprosencephaly, Cleft palate, Lymphedema	ORPHA:1598
Charge Syndrome	Unilateral microphthalmos, Anophthalmia, Ventricular septal defect, Overriding aorta, Atrial sept...	OMIM:214800
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Hypoplasia of the iris, Ventricular septal defect, Subvalvu...	OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hydrocephalus, Microphthalmia	OMIM:615181
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis	OMIM:617092
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Situs...	ORPHA:3097
Anterior Segment Dysgenesis 2	Aniridia, Congenital aphakia, Coloboma, Anterior segment of eye aplasia, Microphthalmia	OMIM:610256
Frontofacionasal Dysplasia	Iris coloboma, Encephalocele, Cleft palate, Microphthalmia	ORPHA:1791
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development	Right aortic arch with mirror image branching	OMIM:107500
Frontorhiny	Cranium bifidum occultum, Encephalocele, Basal encephalocele, Microphthalmia, Bifid tongue, Iris ...	ORPHA:391474
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Azoosperm...	OMIM:300845
Holoprosencephaly	Gastroesophageal reflux, Spinal dysraphism, Chorioretinal coloboma, Tetralogy of Fallot, Branchia...	ORPHA:2162
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia	OMIM:613812
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Abnormal heart morphology, Tetralogy of Fallot, Dextrocardia	ORPHA:96092
3P25.3 Microdeletion Syndrome	High, narrow palate, Coronary artery atherosclerosis, Ventricular septal defect, Pulmonic stenosi...	ORPHA:435638
Rh Deficiency Syndrome	Hyperbilirubinemia, Reduced haptoglobin level	ORPHA:71275
Tetrasomy 9P	Bifid uvula, Umbilical hernia, Juxtaductal coarctation of the aorta, Median cleft palate, Abnorma...	ORPHA:3310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Coloboma, Hydrocephalus, Microphthalmia, Buphthalmos, Anal atresia, Meni...	OMIM:236670
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Fetal Cytomegalovirus Syndrome	Conjugated hyperbilirubinemia	ORPHA:294
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Ventricular septal defect, Dextrocardia, Abnormal cardiac septum morphol...	OMIM:614294
Microphthalmia, Isolated 8	Retinal coloboma, True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia	OMIM:615113
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Coloboma	ORPHA:464288
Gracile Bone Dysplasia	Ascites, Ankyloglossia, Aniridia, Hydrocephalus, Microphthalmia	OMIM:602361
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia	OMIM:614887
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Recurrent pneumonia, Pulmonary hyp...	OMIM:613177
Constricting Bands, Congenital	Ectopia cordis, Encephalocele, Cleft palate, Abnormal lung lobation	OMIM:217100
Meckel Syndrome, Type 6	Occipital encephalocele, Bilobed right lung, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary ...	OMIM:612284
Microcephaly-Micromelia Syndrome	Oligohydramnios, Microphthalmia, Aqueductal stenosis, Cleft palate, Pulmonary hypoplasia	OMIM:251230
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Fructose Intolerance, Hereditary	Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia	OMIM:229600
Neurooculorenal Syndrome	Anteriorly placed anus, Intestinal malrotation, Tetralogy of Fallot with pulmonary stenosis, Mitr...	OMIM:620305
Oligomeganephronia	Secundum atrial septal defect, Branchial cyst, Optic disc coloboma, Pulmonary venous occlusion, D...	ORPHA:2260
Lathosterolosis	Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia	OMIM:607330
Renal Agenesis, Bilateral	Sirenomelia, Oligohydramnios, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft pal...	ORPHA:1848
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Curry-Jones Syndrome	Iris coloboma, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lipomyelomen...	OMIM:601707
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Coloboma, Esophageal atresia, Micro...	OMIM:206900
Marcus-Gunn Syndrome	Abnormal heart morphology, Coloboma, Cleft palate	ORPHA:91412
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Oligohydramnios, Encephalocele, Microphthalmia	ORPHA:228390
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Umbilical hernia, Patent foramen ovale, Microphthalmia, Lens coloboma, Pulmonic stenosis	OMIM:618914
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Communicating hydrocephalus...	OMIM:244400
Trisomy 18	Iris coloboma, Cyclopia, Oligohydramnios, Ventricular septal defect, Anal atresia, Esophageal atr...	ORPHA:3380
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	High palate, Cleft palate, Microphthalmia	ORPHA:1135
Adams-Oliver Syndrome 2	Oligohydramnios, Hydrocephalus, Microphthalmia	OMIM:614219
Lethal Congenital Contracture Syndrome Type 1	Polyhydramnios, Pulmonary hypoplasia	ORPHA:1486
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, High palate, Oligohydramnios, Microphthalmia	OMIM:619053
Kagami-Ogata Syndrome	Ventricular septal defect, Atrial septal defect, Polyhydramnios, Patent ductus arteriosus, Pulmon...	OMIM:608149
Phakomatosis Pigmentokeratotica	Coloboma, Spina bifida, Lymphedema	ORPHA:2874
Mosaic Trisomy 1	Increased nuchal translucency, Ventricular septal defect, Coarctation of aorta, Microphthalmia, P...	ORPHA:1692
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co...	ORPHA:14
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect, Microphthalmia	ORPHA:93267
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:352665
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Fanconi Anemia, Complementation Group F	Pneumonia, Duodenal atresia, Atrial septal defect, Microphthalmia, Polyhydramnios, Patent ductus ...	OMIM:603467
Rubinstein-Taybi Syndrome 1	Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, High palate, Patent ductu...	OMIM:180849
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Coloboma, Microphthalmia	OMIM:617306
Platyspondylic Dysplasia, Torrance Type	Polyhydramnios, Hydrops fetalis, Cleft palate, Pulmonary hypoplasia	ORPHA:85166
Severe Congenital Nemaline Myopathy	Polyhydramnios, Edema of the dorsum of hands, Dysphagia, Pulmonary hypoplasia	ORPHA:171430
Limb Body Wall Complex	Iris coloboma, Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, ...	ORPHA:2369
Fetal Akinesia Deformation Sequence	Polyhydramnios, Cleft palate, Intestinal hypoplasia, Pulmonary hypoplasia	ORPHA:994
Curry-Jones Syndrome	Intestinal malrotation, Iris coloboma, Optic disc coloboma, Microphthalmia	ORPHA:1553
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Aqueductal stenosis, Pulmonary hypoplasia	ORPHA:3035
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Bifid uvula, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopa...	OMIM:617506
Jacobsen Syndrome	Chorioretinal coloboma, Ventricular septal defect, Macular hypoplasia, Hydrocephalus, Atrial sept...	OMIM:147791
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Tetralogy of Fallot, Aganglio...	ORPHA:959
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci...	OMIM:615751
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Retinal coloboma	ORPHA:363741
Skraban-Deardorff Syndrome	Right aortic arch, Cleft palate, Ventricular septal defect	OMIM:617616
1Q41Q42 Microdeletion Syndrome	Holoprosencephaly, Cleft palate, Submucous cleft hard palate, Pulmonary hypoplasia	ORPHA:250999
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Hydrocephalus, Atrial...	OMIM:253800
Developmental And Epileptic Encephalopathy 1	Dysphagia, Microphthalmia	OMIM:308350
Catel-Manzke Syndrome	Bifid uvula, Umbilical hernia, Ventricular septal defect, Overriding aorta, Coarctation of aorta,...	OMIM:616145
Duane-Radial Ray Syndrome	Anal stenosis, Optic disc hypoplasia, Retinal coloboma, Ventricular septal defect, Aganglionic me...	OMIM:607323
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia	OMIM:224120
Microphthalmia With Brain And Digit Anomalies	Chorioretinal coloboma, Anophthalmia, Microphthalmia, High palate, Iris coloboma	ORPHA:139471
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Pulmonary hypoplasia, Hamartoma of tongue, Encephalocele, Microphthalmia, Bifid tongue, Anal atre...	OMIM:616300
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Bilateral microphthalmos, Ethmoidal encephalocele, Cleft palate, Optic nerve...	OMIM:607597
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration	ORPHA:90673
Meckel Syndrome, Type 1	Iris coloboma, Pulmonary hypoplasia, Occipital encephalocele, Intestinal malrotation, Large place...	OMIM:249000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia	OMIM:208085
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro...	ORPHA:2326
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Mitra...	OMIM:619472
Atelosteogenesis, Type Ii	Cleft palate, Pulmonary hypoplasia	OMIM:256050
Linear Skin Defects With Multiple Congenital Anomalies 1	Anteriorly placed anus, Colonic atresia, Histiocytoid cardiomyopathy, Ventricular septal defect, ...	OMIM:309801
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Intestinal malrotation, Abnormal heart morphology, Abnormal gastrointestinal tract m...	ORPHA:404440
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia	OMIM:245650
Graft Versus Host Disease	Hyperbilirubinemia	ORPHA:39812
Distal Deletion 15Q	Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl...	ORPHA:1596
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Kyphoscoliotic Ehlers-Danlos Syndrome	Subdural hemorrhage, Umbilical hernia, Antenatal intracerebral hemorrhage, Bicuspid aortic valve,...	ORPHA:536545
Cystic Echinococcosis	Hyperbilirubinemia	ORPHA:400
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation	ORPHA:1110
2Q31.1 Microdeletion Syndrome	Optic disc coloboma, Ventricular septal defect, Coloboma, Atrial septal defect, Microphthalmia, I...	ORPHA:251014
Microphthalmia, Syndromic 8	Cleft palate, Microphthalmia	OMIM:601349
Phace Syndrome	Iris coloboma, Aortic root aneurysm, Tetralogy of Fallot, Abnormal heart morphology, Abnormal cer...	ORPHA:42775
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Gastroesophageal reflux, Branchial cyst, Bilateral microphthalmos, A...	ORPHA:508488
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
20Q13.33 Microdeletion Syndrome	Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Oligohydra...	ORPHA:261311
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Pelvis-Shoulder Dysplasia	Hydranencephaly, Microglossia, Bilateral microphthalmos, Retinal coloboma, Spina bifida, Hydrocep...	ORPHA:2839
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:212550
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect, Microphthalmia	OMIM:613730
Hereditary Spherocytosis	Hyperbilirubinemia	ORPHA:822
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia	OMIM:614526
3Q29 Microduplication Syndrome	Aniridia, Ventricular septal defect, Ectopic anus, Microphthalmia, High palate, Iris coloboma, Cl...	ORPHA:251038
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Gastroesophageal reflux, Furrowed tongue, Ventricular septal defect, Atrial ...	OMIM:616449
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Pulmonary artery atresia, Atelectasis, Cerebral hemorrhage, Retinal arterial tor...	OMIM:620371
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Vent...	ORPHA:369891
Thanatophoric Dysplasia, Type I	Polyhydramnios, Hydrocephalus, Pulmonary hypoplasia	OMIM:187600
Autoimmune Hepatitis	Increased total bilirubin	ORPHA:2137
Fanconi Anemia	Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Atrial septal defect, Microphthalmia...	ORPHA:84
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Optic nerve hypoplasia, Aortic r...	OMIM:620025
De Barsy Syndrome	Prominent veins on trunk, Umbilical hernia, Hypoplastic aortic arch, Ventricular septal defect, P...	ORPHA:2962
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Pulmonary hypoplasia	OMIM:224410
Osteopetrosis, Autosomal Recessive 5	Hyperbilirubinemia, Hypocalcemia	OMIM:259720
Meckel Syndrome	Aplasia/Hypoplasia of the tongue, Furrowed tongue, Oligohydramnios, Situs inversus totalis, Encep...	ORPHA:564
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia	OMIM:145420
Steinfeld Syndrome	Bifid uvula, Retinal coloboma, Abnormal heart morphology, Median cleft palate, Microphthalmia, Ho...	OMIM:184705
Autosomal Recessive Multiple Pterygium Syndrome	Umbilical hernia, Abnormal gastrointestinal tract morphology, Abnormal aortic valve morphology, A...	ORPHA:2990
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus	OMIM:616026
Walker-Warburg Syndrome	Bifid uvula, Anophthalmia, Submucous cleft hard palate, Hydrocephalus, Microphthalmia, Iris colob...	ORPHA:899
Hallermann-Streiff Syndrome	High, narrow palate, Recurrent pneumonia, Recurrent respiratory infections, Chorioretinal colobom...	OMIM:234100
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microphthalmia	OMIM:618805
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, High palate, Perimembranous ventricular septal defect, Microp...	OMIM:618804
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Gastroesophageal reflux, Anal atresia, Atrial septal defect, Polyhydramnios, High ...	OMIM:614080
Microphthalmia/Coloboma 12	Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula...	OMIM:120200
Subaortic Stenosis-Short Stature Syndrome	Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia	ORPHA:3191
Wilson Disease	Hypouricemia, Hypoalbuminemia, Glycosuria, Hyperbilirubinemia, Increased circulating copper conce...	OMIM:277900
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Edema, Cleft palate, Umbilical hernia	ORPHA:2505
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Ileal atresia, Oligohydramnios, Thoracic aortic aneurysm, Patent ductus arteriosus, P...	OMIM:619351
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia	ORPHA:90674
Spondylo-Ocular Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Renal Tubular Dysgenesis	Oligohydramnios, Pulmonary hypoplasia	OMIM:267430
Stromme Syndrome	Intestinal malrotation, Jejunal atresia, Hydrocephalus, Microphthalmia, Iris coloboma, Duodenal a...	OMIM:243605
Fumarase Deficiency	Hyperbilirubinemia	OMIM:606812
Otodental Syndrome	Microphthalmia, Lens coloboma, Iris coloboma, Retinal coloboma	ORPHA:2791
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Encephalocele, Ventricular se...	OMIM:100300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Aortic valve stenosis, Gastroesophageal reflux, Recurrent respiratory infections, Inte...	ORPHA:353281
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Joubert Syndrome 2	Optic disc coloboma, Chorioretinal coloboma, Encephalocele, Hydrocephalus, Microphthalmia, High p...	OMIM:608091
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Intestinal malrotation, Oligohydramnios, Situs inversus totalis, Atrial se...	OMIM:208540
Familial Multiple Lipomatosis	Functional intestinal obstruction, Coloboma, Abnormal tricuspid valve morphology	ORPHA:199276
Loeys-Dietz Syndrome 2	Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr...	OMIM:610168
Galloway-Mowat Syndrome 3	Oligohydramnios, Hiatus hernia, Coarctation of aorta, Microphthalmia, High palate, Edema	OMIM:617729
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Gastroesophageal reflux, Furrowed tongue, Patent foramen ovale, Ventricular septal defect, Patent...	OMIM:616975
Renal Hypodysplasia/Aplasia 1	Oligohydramnios, Pulmonary hypoplasia	OMIM:191830
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short uvula, Ascites, High palate, Hydrops fetalis, Cleft palate, Pulmonary hypoplasia	OMIM:614091
Braddock-Carey Syndrome 2	Cleft palate, Microphthalmia	OMIM:619981
Thauvin-Robinet-Faivre Syndrome	Retinal coloboma, Mitral valve prolapse, Ventricular septal defect, Coloboma, Varicose veins, Mac...	OMIM:617107
Schimmelpenning-Feuerstein-Mims Syndrome	Coarctation of aorta, Coloboma	OMIM:163200
Neu-Laxova Syndrome 1	Generalized edema, Hydranencephaly, Small placenta, Short umbilical cord, Patent foramen ovale, V...	OMIM:256520
Carpenter Syndrome 2	High, narrow palate, Umbilical hernia, Situs inversus totalis, Transposition of the great arterie...	OMIM:614976
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Microphthalmia	ORPHA:1438
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Hyperbilirubinemia	OMIM:557000
Pallister-Hall Syndrome	Microglossia, Anteriorly placed anus, Abnormal lung lobation, Ventricular septal defect, Preducta...	OMIM:146510
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly	ORPHA:2211
Microphthalmia, Syndromic 11	Cleft palate, Microphthalmia	OMIM:614402
Fanconi Anemia, Complementation Group R	Anal atresia, Hydrocephalus, Microphthalmia	OMIM:617244
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Abnormal heart morphology, Cleft palate, Retinal coloboma	OMIM:618571
Renpenning Syndrome 1	Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect, Anal atresia, Coloboma, A...	OMIM:309500
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	High palate, Coloboma, Cleft palate, Ventricular septal defect	ORPHA:251028
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Otopalatodigital Syndrome Type 2	Myelomeningocele, Abnormal heart valve morphology, Encephalocele, Hydrocephalus, Abnormal cardiac...	ORPHA:90652
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Cree Impaired Intellectual Development Syndrome	Coloboma, Cleft soft palate	OMIM:606851
Branchio-Oculo-Facial Syndrome	High palate, Coloboma, Iris coloboma	ORPHA:1297
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Oligohydramnios, Tracheoesophageal fist...	ORPHA:958
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle...	OMIM:617168
Basal Cell Nevus Syndrome 1	Cardiac rhabdomyoma, Cardiac fibroma, Hydrocephalus, Spina bifida, Microphthalmia, Hamartomatous ...	OMIM:109400
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Right ventricular hypertrophy, Volvulus, Microphthalmia	ORPHA:335
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic root aneurysm, Atelectasis, Oligohydramnios, Mitral valve prolapse, Stroke, Hydrocephalus,...	ORPHA:536467
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Microphthalmia	OMIM:300863
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Pulmonary hypoplasia	OMIM:617895
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Histiocytoid Cardiomyopathy	Stroke-like episode, Congenital aphakia, Ventricular septal defect, Pulmonary edema, Cardiomegaly...	ORPHA:137675
Tetrasomy 5P	High palate, Hydrocephalus, Recurrent respiratory infections, Pulmonary hypoplasia	ORPHA:3309
Smith-Lemli-Opitz Syndrome	Pulmonary hypoplasia, Gastroesophageal reflux, Microglossia, Abnormal lung lobation, Atrioventric...	ORPHA:818
Peroxisome Biogenesis Disorder 5A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci...	OMIM:614866
Moebius Syndrome	Bifid uvula, High palate, Dysphagia, Microphthalmia	OMIM:157900
Atelosteogenesis Type I	Polyhydramnios, Malrotation of colon, Cleft palate, Pulmonary hypoplasia	ORPHA:1190
Diaphanospondylodysostosis	Oligohydramnios, Increased nuchal translucency, Cleft palate, Pulmonary hypoplasia	OMIM:608022
Microphthalmia/Coloboma 9	Iris coloboma, Macular coloboma, Microphthalmia	OMIM:615145
Odontochondrodysplasia 1	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:184260
Frontonasal Dysplasia 3	Cleft palate, Microphthalmia	OMIM:613456
Gaucher Disease, Perinatal Lethal	Ascites, Nonimmune hydrops fetalis, Cardiomegaly, Polyhydramnios, Dysphagia, Pulmonary hypoplasia	OMIM:608013
Oculoauricular Syndrome	Chorioretinal coloboma, Retinal coloboma, Macular hypoplasia, Phthisis bulbi, Microphakia, Microp...	OMIM:612109
Renal Agenesis	Anal atresia, Oligohydramnios, Ventricular septal defect, Pulmonary hypoplasia	ORPHA:411709
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Meckel diverticulum, Pyloric stenosis	OMIM:616395
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Facial edema, Polyhydramnios, Pulmonary hypoplasia	ORPHA:86822
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Aortic valve stenosis, Gastroesophageal reflux, Recurrent respiratory infections, Inte...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Aortic valve stenosis, Gastroesophageal reflux, Recurrent respiratory infections, Inte...	ORPHA:353277
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, High palate, Microphthalmia	ORPHA:35173
Primary Biliary Cholangitis	Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch...	ORPHA:186
Anterior Segment Dysgenesis 7	Buphthalmos, Iris coloboma, Microphthalmia	OMIM:269400
Microphthalmia With Limb Anomalies	Anophthalmia, Interrupted inferior vena cava with azygous continuation, Microphthalmia, High pala...	OMIM:206920
Acrocallosal Syndrome	Bifid uvula, Umbilical hernia, Abnormal pulmonary valve morphology, Protruding tongue, Anal atres...	OMIM:200990
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia	ORPHA:464321
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	High palate, Cleft palate, Microphthalmia	ORPHA:163649
Caroli Syndrome	Hyperbilirubinemia, Conjugated hyperbilirubinemia	ORPHA:480520
Joubert Syndrome 21	Occipital encephalocele, Encephalocele, Anophthalmia, Dysphagia, Pulmonary hypoplasia	OMIM:615636
Methylmalonate Semialdehyde Dehydrogenase Deficiency	High palate, Microphthalmia	OMIM:614105
Congenital Primary Aphakia	Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phth...	ORPHA:83461
Joubert Syndrome 37	High palate, Microphthalmia	OMIM:619185
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Alg9-Cdg	Bifid uvula, Gastroesophageal reflux, Abnormal lung lobation, Abnormal heart morphology, Villous ...	ORPHA:79328
Fontaine Progeroid Syndrome	High, narrow palate, Gastroesophageal reflux, Anteriorly placed anus, Umbilical hernia, Abnormal ...	OMIM:612289
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Coloboma, Anophthalmia, Microphthalmia	OMIM:615877
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Absent uvula, Intestinal atresia, Re...	OMIM:619708
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Chorioretinal coloboma, Microphthalmia	OMIM:619135
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Increased circulating thyroglobulin concentration	OMIM:218700
Fryns Syndrome	Meckel diverticulum, Chylothorax, Intestinal malrotation, Ventricular septal defect, Aganglionic ...	OMIM:229850
Acrocephalopolydactylous Dysplasia	Ascites, Hypoplastic colon, Hypoplasia of the small intestine, Extrapulmonary lobar sequestration...	OMIM:200995
Seckel Syndrome 2	Microglossia, Microphthalmia	OMIM:606744
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Microphthalmia, Optic nerv...	OMIM:609053
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Hamartoma of tongue, Tetralogy of Fallot, Complete atrioventricular canal defect, Microphthalmia,...	OMIM:617925
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Oligohydramnios, Esophageal varix, Hematemesis, Dehydration, Pulmonary hypoplasia	OMIM:263200
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Recurrent pneumonia, Furrowed tongue, Ventricular septal defect, Left superi...	ORPHA:464738
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Buphthalmos, Hydrocephalus, Microphthalmia, Macroglossia, Cleft palate	OMIM:613150
Martsolf Syndrome 1	High palate, Cardiomyopathy, Recurrent respiratory infections, Microphthalmia	OMIM:212720
Holoprosencephaly 7	Iris coloboma, Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, M...	OMIM:610828
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Overriding aorta, Microphthalmia, Cyclopia, Holoprosencephaly, Iris coloboma	ORPHA:3186
Atelis Syndrome 2	Gastroesophageal reflux, Remnants of the hyaloid vascular system, Microphthalmia, Supravalvar pul...	OMIM:620185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Remnants of the hyaloid vascular system, Microphthalmia, Optic nerv...	OMIM:614643
Kabuki Syndrome	Coarctation of aorta, Coloboma, Hydrocephalus, Abnormal cardiac septum morphology, High palate, C...	ORPHA:2322
Monosomy 18Q	Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Aortic aneu...	ORPHA:1600
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate, Remnants of the hyaloid vascular system	OMIM:257910
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anal atresia, Abnormal cardiac septum morphology, Anteriorly placed anus, Microphthalmia	ORPHA:1352
Poland Syndrome	Spina bifida occulta, Atrial septal defect, Encephalocele, Dextrocardia	ORPHA:2911
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Microphthalmia	ORPHA:163966
Neu-Laxova Syndrome	Bifid uvula, Submucous cleft hard palate, Spina bifida, Polyhydramnios, Cleft palate, Pulmonary h...	ORPHA:2671
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoglycemia	OMIM:613658
Bohring-Opitz Syndrome	Cardiomegaly, Coloboma, Abnormal cardiac septum morphology, Recurrent respiratory infections, Cle...	ORPHA:97297
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Retinal arteriolar occlusion, Microphthalmia	OMIM:193220
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Treacher-Collins Syndrome	Branchial fistula, Encephalocele, Glossoptosis, Tracheoesophageal fistula, Microphthalmia, High p...	ORPHA:861
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Enterocolitis, Microphthalmia	OMIM:301108
Ogden Syndrome	Hyperbilirubinemia, Maternal diabetes	OMIM:300855
Bartsocas-Papas Syndrome 2	Microphthalmia, Bilateral cleft palate	OMIM:619339
Frontonasal Dysplasia 2	Oligohydramnios, Encephalocele, Microphthalmia	OMIM:613451
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Coloboma, Microphthalmia	ORPHA:85167
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Microphthalmia	ORPHA:1806
Aicardi Syndrome	Recurrent pneumonia, Optic disc coloboma, Hiatus hernia, Hepatoblastoma, Spina bifida, Microphtha...	OMIM:304050
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Optic nerve hypoplasia, Optic disc coloboma, Lymphedema, Abnormal heart va...	ORPHA:536471
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia	ORPHA:168577
Caroli Disease	Conjugated hyperbilirubinemia	ORPHA:53035
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Gastroesophageal reflux, Branchial cyst, Optic disc coloboma, Ankyloglossia, Patent ...	OMIM:620186
Mckusick-Kaufman Syndrome	Pulmonary hypoplasia, Aganglionic megacolon, Anal atresia, Rectovaginal fistula, Edema, Pedal edema	OMIM:236700
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Polyhydramnios, Ventricular septal defect, Pulmonary hypoplasia	OMIM:615503
Proboscis Lateralis	Chorioretinal coloboma, Cyclopia, Optic disc coloboma, Anophthalmia, Ventricular septal defect, M...	ORPHA:141099
3Q29 Microdeletion Syndrome	Gastroesophageal reflux, Subvalvular aortic stenosis, Microphthalmia, High palate, Patent ductus ...	ORPHA:65286
Isolated Biliary Atresia	Conjugated hyperbilirubinemia	ORPHA:30391
Reynolds Syndrome	Hyperbilirubinemia, Calcinosis	OMIM:613471
Fanconi Anemia, Complementation Group S	Narrow palate, Microphthalmia	OMIM:617883
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Short uvula, Chorioretinal coloboma, Dilatation of the cerebral artery, Anky...	OMIM:619475
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H...	OMIM:619991
Fetal Alcohol Syndrome	Atrial septal defect, Cleft palate, Microphthalmia	ORPHA:1915
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Protruding tongue, Ventricular septal defect, Macroglossia, High palate, Dys...	OMIM:214100
Congenital Myopathy 22B, Severe Fetal	Ascites, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, High palate, Pulmonary hypo...	OMIM:620369
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Achondrogenesis, Type Ia	Increased nuchal translucency, Protruding tongue, Polyhydramnios, Hydrops fetalis, Pulmonary hypo...	OMIM:200600
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Unilateral microphthalmos, Mitral valve prolapse, Bilateral cleft palate, High pal...	OMIM:618874
Congenital Myopathy 17	Respiratory tract infection, Polyhydramnios, High palate, Cleft palate, Pulmonary hypoplasia	OMIM:618975
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Polyhydramnios, Pulmonary hypoplasia	OMIM:151210
Chromosome 13Q14 Deletion Syndrome	Chorioretinal coloboma, Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Microp...	OMIM:613884
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Pierson Syndrome	Hypoplasia of the iris, Oligohydramnios, Rieger anomaly, Hypoplasia of the ciliary body, Macular ...	OMIM:609049
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Microglossia, Hamartoma of tongue, Intestinal malrotation, Ventricular septal defect, Atrial sept...	OMIM:263520
Blomstrand Lethal Chondrodysplasia	Protruding tongue, Coarctation of aorta, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia	ORPHA:50945
Tetraamelia Syndrome 1	Hydrocephalus, Microphthalmia, Anal atresia, Peripheral pulmonary vessel aplasia, Cleft palate, P...	OMIM:273395
Achondroplasia	Polyhydramnios, Hydrocephalus, Pulmonary hypoplasia	OMIM:100800
Micro Syndrome	Microphthalmia, High palate, Retinal coloboma	ORPHA:2510
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Papillorenal Syndrome	Microphthalmia, Optic disc coloboma, Edema, Retinal coloboma	OMIM:120330
Microphthalmia, Lenz Type	Optic disc coloboma, Iris coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:568
Cohen Syndrome	High, narrow palate, Aplasia/Hypoplasia of the tongue, Mitral valve prolapse, Ventricular septal ...	ORPHA:193
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Macular hypoplasia, Phthisis bulbi, Remnants of th...	ORPHA:91495
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Abnormal aortic arch morphology, Spinal dysraphism, Hypertrophic cardiomyopathy, Large placenta, ...	ORPHA:96334
Hydrolethalus Syndrome 1	Abnormal lung lobation, Complete atrioventricular canal defect, Ventricular septal defect, Microp...	OMIM:236680
Maternal Uniparental Disomy Of Chromosome 2	Respiratory infections in early life, Oligohydramnios, Pulmonary hypoplasia	ORPHA:96179
Cranioectodermal Dysplasia 2	Hyperbilirubinemia	OMIM:613610
You-Hoover-Fong Syndrome	Double aortic arch, Vascular ring, Coarctation of aorta, Cleft palate	OMIM:616954
Tarp Syndrome	Tetralogy of Fallot, Persistent left superior vena cava, Abnormal duodenum morphology, Atrial sep...	ORPHA:2886
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Mowat-Wilson Syndrome	Abnormal enteric ganglion morphology, Chorioretinal coloboma, Abnormal heart morphology, Submucou...	OMIM:235730
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Coarctation of aorta, Right aortic arch	OMIM:140850
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia	ORPHA:163956
Fraser Syndrome 1	Bilateral microphthalmos, Myelomeningocele, Abnormal heart morphology, Abnormal small intestine m...	OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Hydrocephalus, Microphthalmia	OMIM:616538
Meier-Gorlin Syndrome 7	Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Complete atrioventricular canal defect,...	OMIM:617063
Refsum Disease	Cardiomyopathy, Microphthalmia	ORPHA:773
Caudal Regression Syndrome	Anal atresia, Pulmonary hypoplasia	ORPHA:3027
Holoprosencephaly 2	Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Chorioretinal coloboma, Media...	OMIM:157170
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Atrial septal defect, Microphthalmia, Edema	ORPHA:2526
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Fanconi Anemia, Complementation Group D2	Abnormal heart morphology, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Micropht...	OMIM:227646
Gaucher Disease, Type Ii	Gastroesophageal reflux, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch, Dysph...	OMIM:230900
Sacral Defect With Anterior Meningocele	Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Meningocele, Dermal s...	OMIM:600145
Senior-Boichis Syndrome	Increased total bilirubin	ORPHA:84081
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Cousin Syndrome	Hydranencephaly, Microglossia, Hydrocephalus, Microphthalmia, Cleft palate	OMIM:260660
Genitopatellar Syndrome	Gastroesophageal reflux, Atrial septal defect, Pulmonary hypoplasia	ORPHA:85201
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Oligohydramnios, Persistent cloaca, Patent ductus arteriosus, Pulmonary hypoplasia	ORPHA:1112
Warburg Micro Syndrome 3	Narrow palate, Microphthalmia	OMIM:614222
Degcags Syndrome	Pneumonia, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Protruding tongue, Patent foramen ...	OMIM:619488
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Cleft palate, Microphthalmia	ORPHA:2728
Fraser Syndrome	Anal stenosis, Umbilical hernia, Myelomeningocele, Anorectal anomaly, Abnormal lung lobation, Enc...	ORPHA:2052
Bosma Arhinia Microphthalmia Syndrome	High palate, Coloboma, Cleft palate, Microphthalmia	OMIM:603457
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Edema, Microphthalmia	OMIM:302960
Smith-Lemli-Opitz Syndrome	Bifid uvula, Pulmonary hypoplasia, Gastroesophageal reflux, Microglossia, Abnormal lung lobation,...	OMIM:270400
Yunis-Varon Syndrome	High, narrow palate, Bilateral microphthalmos, Cardiomyopathy, Tetralogy of Fallot, Increased nuc...	ORPHA:3472
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ...	ORPHA:99829
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Small placenta, Increased nuchal translucency, Short umbilical cord, Nonimmu...	OMIM:208150
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Remnants of the hyaloid vascular system, Microphthalmia, Buphthalmos, Iris coloboma	OMIM:221900
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Oligohydramnios, Hiatus hernia, Microphthalmia, High palate	OMIM:251300
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Cleft palate, Microphthalmia	OMIM:620098
Aicardi Syndrome	Gastroesophageal reflux, Chorioretinal coloboma, Optic disc coloboma, Intestinal polyposis, Hiatu...	ORPHA:50
Cerebrooculofacioskeletal Syndrome 4	Abnormal heart morphology, Bilateral microphthalmos	OMIM:610758
Congenital Erythropoietic Porphyria	Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi...	ORPHA:79277
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect, Microphthalmia	OMIM:234050
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Glycosuria, Reduced haptoglobin level, Increased blood ...	ORPHA:447
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia	OMIM:248450
Greenberg Dysplasia	Abnormal lung lobation, Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis,...	OMIM:215140
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Stuve-Wiedemann Syndrome 1	Smooth tongue, Oligohydramnios, Pulmonary arterial medial hypertrophy, Dysphagia, Pulmonary hypop...	OMIM:601559
Penile Agenesis	Oligohydramnios, Bilateral lung agenesis, Ventricular septal defect, Anal atresia, Tracheoesophag...	ORPHA:49
Fanconi Anemia, Complementation Group N	Anal atresia, Ventricular septal defect, Atrial septal defect, Microphthalmia	OMIM:610832
Frontofacionasal Dysplasia	Bifid uvula, Cranium bifidum occultum, Iris coloboma, Microphthalmia	OMIM:229400
Atelosteogenesis Type Ii	Polyhydramnios, Pulmonary hypoplasia, Cleft palate, Bilateral cleft palate	ORPHA:56304
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hypoplasia of the retina, Coloboma, Hydrocephalus, Microphthalmia, Buphthalmos	OMIM:253280
Hardikar Syndrome	Hyperbilirubinemia	OMIM:301068
Intellectual Developmental Disorder, X-Linked 112	Gastroesophageal reflux, Volvulus, Abnormal heart morphology, Right aortic arch, Bicuspid aortic ...	OMIM:301111
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Bifid uvula, Microphthalmia	OMIM:241410
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Anophthalmia, Submucous cleft hard palate, Microphthalmia, Iris coloboma, Cleft palate	ORPHA:2250
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Unconjugated hyperbilirubinemia	OMIM:618278
Raine Syndrome	Protruding tongue, Hydrocephalus, High palate, Cleft palate, Pulmonary hypoplasia	OMIM:259775
Fanconi Anemia, Complementation Group L	Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Microphthalmia, Anal atresia, Cleft...	OMIM:614083
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Coloboma, Hydrocephalus, Frontal encephalocele, Microphthalmia, Polyhy...	OMIM:268300
Craniofacial Microsomia 1	Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Right aortic arch, Anophthalmia,...	OMIM:164210
Multiple Pterygium Syndrome, Escobar Variant	Umbilical hernia, High palate, Hydrops fetalis, Cleft palate, Pulmonary hypoplasia	OMIM:265000
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Fraser Syndrome 2	Intestinal malrotation, Oligohydramnios, Rectal atresia, Microphthalmia, Anal atresia	OMIM:617666
Orofaciodigital Syndrome Type 4	High, narrow palate, Bifid uvula, Recurrent respiratory infections, Oligohydramnios, Bilateral lu...	ORPHA:2753
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia	OMIM:620376
Multiple Acyl-Coa Dehydrogenase Deficiency	Pulmonary hypoplasia	OMIM:231680
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Rodrigues Blindness	Microphthalmia	OMIM:268320
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tetralogy of Fallot, Cranium bifidum occultum, Cleft palate, Microphthalmia	ORPHA:306542
Myhre Syndrome	Aortic valve stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Mic...	OMIM:139210
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Gastrointestinal hemorrhage, Spontaneous pneumothorax, Recurrent pneu...	ORPHA:731
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Microphthalmia, Cleft palate, Remnants of the hyaloid vascular system	ORPHA:2714
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Anal atresia, Oligohydramnios, Pulmonary hypoplasia	OMIM:271520
Osteogenesis Imperfecta	Arterial dissection, Aortic root aneurysm, Aortic dissection, Umbilical hernia, Intestinal obstru...	ORPHA:666
Skin Creases, Congenital Symmetric Circumferential, 1	High palate, Cleft palate, Microphthalmia	OMIM:156610
Dubowitz Syndrome	Gastroesophageal reflux, Velopharyngeal insufficiency, Hypoplasia of the iris, Submucous cleft ha...	OMIM:223370
Holoprosencephaly 1	Alobar holoprosencephaly, Median cleft palate, Single ventricle, Ethmocephaly, Microphthalmia, Cy...	OMIM:236100
Momo Syndrome	High palate, Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Prominent superficial veins, Microphthalmia	OMIM:601812
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Microphthalmia	OMIM:601675
Mend Syndrome	Aortic valve stenosis, Abnormal heart morphology, Hydrocephalus, Microphthalmia, High palate, Cle...	ORPHA:401973
Pallister-Hall Syndrome	Bifid uvula, Microglossia, Umbilical hernia, Abnormal lung lobation, Atrioventricular canal defec...	ORPHA:672
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Pulmonary hypoplasia, Single ventricle, Abnormal cardiac septum morphology, Umbilical hernia	OMIM:308050
Oculocerebrorenal Syndrome Of Lowe	Gastroesophageal reflux, Recurrent respiratory infections, Umbilical hernia, Atelectasis, Azoospe...	ORPHA:534
Monosomy 9Q22.3	Microphthalmia, Hydrocephalus, Cardiac fibroma, Umbilical hernia	ORPHA:77301
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Oligohydramnios, Microglossia, Cleft palate, Microphthalmia	ORPHA:364577
Focal Dermal Hypoplasia	Anteriorly placed anus, Umbilical hernia, Myelomeningocele, Intestinal malrotation, Chorioretinal...	OMIM:305600
Cockayne Syndrome Type 3	Vascular calcification, Gastroesophageal reflux, Aortic root aneurysm, Subdural hemorrhage, Prema...	ORPHA:90324
Schinzel-Giedion Syndrome	Recurrent pneumonia, Anteriorly placed anus, Umbilical hernia, Abnormal heart morphology, Agangli...	ORPHA:798
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal rectum morphology, Anophthalmia, Mi...	ORPHA:2556
Monosomy 13Q14	Holoprosencephaly, Abnormality of the gastrointestinal tract, Iris coloboma, Microphthalmia	ORPHA:1587
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Oligohydramnios, Submucous cleft soft palate, Ven...	OMIM:608670
Ohdo Syndrome, X-Linked	Hiatus hernia, High palate, Microphthalmia	OMIM:300895
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Restrictive Dermopathy 1	Oligohydramnios, Hydropic placenta, Short umbilical cord, Submucous cleft hard palate, Atrial sep...	OMIM:275210
Teebi-Shaltout Syndrome	High, narrow palate, Aortic valve stenosis, Ventricular septal defect, Microphthalmia, Cleft palate	OMIM:272950
Microphthalmia, Syndromic 1	High, narrow palate, Pulmonary hypoplasia, Chorioretinal coloboma, Optic disc coloboma, Ciliary b...	OMIM:309800
Trichothiodystrophy	High, narrow palate, Bilateral microphthalmos, Umbilical hernia, Cardiomyopathy, Ventricular sept...	ORPHA:33364
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Aortic valve calcification, Hypoplastic left heart, Thoracic aorta calcifi...	ORPHA:402075
Chromosome 8Q21.11 Deletion Syndrome	High palate, Cleft palate, Microphthalmia	OMIM:614230
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch, Hydrocephalus, Optic nerve hypoplasia	ORPHA:457284
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypoplastic left heart, Fetal ascites, Mitral atresia, Muscular ventricular septal defect, Cleft ...	OMIM:619503
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Microphthalmia	OMIM:300952
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Lethal Congenital Contracture Syndrome 9	Polyhydramnios, Short umbilical cord, Pulmonary hypoplasia	OMIM:616503
Holoprosencephaly 9	Alobar holoprosencephaly, Anophthalmia, Bilateral cleft palate, Short hard palate, Hydrocephalus,...	OMIM:610829
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bifid uvula, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Coarc...	OMIM:612474
8Q21.11 Microdeletion Syndrome	High palate, Microphthalmia	ORPHA:284160
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Iris coloboma, Microphthalmia	ORPHA:1236
Proximal Renal Tubular Acidosis	Coloboma, Subvalvular aortic stenosis, Dehydration	ORPHA:47159
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Floating-Harbor Syndrome	Umbilical hernia, Mesocardia, Persistent left superior vena cava, Coarctation of aorta, Atrial se...	OMIM:136140
Microphthalmia With Limb Anomalies	True anophthalmia, Venous insufficiency, Hydrocephalus, Microphthalmia, High palate, Cleft palate	ORPHA:1106
Acrorenal-Mandibular Syndrome	Narrow palate, High palate, Oligohydramnios, Pulmonary hypoplasia	OMIM:200980
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Hallermann-Streiff Syndrome	High, narrow palate, Glossoptosis, Abdominal situs inversus, Microphthalmia	ORPHA:2108
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	High palate, Total anomalous pulmonary venous return, Atrial septal defect, Microphthalmia	OMIM:609945
Fanconi Anemia, Complementation Group E	Abnormal heart morphology, Microphthalmia	OMIM:600901
Townes-Brocks Syndrome	Anteriorly placed anus, Chorioretinal coloboma, Tetralogy of Fallot, Abnormal pulmonary valve mor...	ORPHA:857
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Optic disc coloboma, Microphthalmia	OMIM:608940
Fanconi Anemia, Complementation Group A	Abnormal heart morphology, Microphthalmia	OMIM:227650
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Oculodentodigital Dysplasia	High palate, Atrial septal defect, Cleft palate, Microphthalmia	OMIM:164200
Linear Nevus Sebaceus Syndrome	Iris coloboma, Microphthalmia	ORPHA:2612
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Microphthalmia	OMIM:620005
Dpagt1-Cdg	Intracranial hemorrhage, Stroke-like episode, Anasarca, Pulmonary hypoplasia	ORPHA:86309
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Neuroocular Syndrome 1	Short uvula, Umbilical hernia, Ankyloglossia, Submucous cleft hard palate, Patent foramen ovale, ...	OMIM:619539
Microphthalmia, Syndromic 6	Bifid uvula, Microglossia, Anophthalmia, Coloboma, Microphthalmia, High palate, Cleft palate	OMIM:607932
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Floating-Harbor Syndrome	Gastroesophageal reflux, Tetralogy of Fallot, Mesocardia, Persistent left superior vena cava, Coa...	ORPHA:2044
Bartsocas-Papas Syndrome 1	Anal stenosis, Patent foramen ovale, Microphthalmia, Anal atresia, Cleft palate	OMIM:263650
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Cardiospondylocarpofacial Syndrome	Gastroesophageal reflux, Muscular ventricular septal defect, Patent foramen ovale, Dysplastic tri...	OMIM:157800
Blepharophimosis, Ptosis, And Epicanthus Inversus	High palate, Microphthalmia	OMIM:110100
Genitopatellar Syndrome	Malrotation of small bowel, Anal stenosis, Anteriorly placed anus, Ventricular septal defect, Atr...	OMIM:606170
Fanconi Anemia, Complementation Group C	Ventricular septal defect, Microphthalmia	OMIM:227645
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Bifid uvula, Submucous cleft of soft and hard palate, Iris coloboma, Retin...	ORPHA:261537
Mowat-Wilson Syndrome	Aortic valve stenosis, Bicuspid aortic valve, Microphthalmia, Iris coloboma, Dysphagia, Patent du...	ORPHA:2152
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Rothmund-Thomson Syndrome, Type 2	High palate, Anteriorly placed anus, Microphthalmia	OMIM:268400
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Increased axial length of the globe, Gastroesophageal reflux, Right aortic arch, Ventricular sept...	ORPHA:513456
Cockayne Syndrome B	Normal pressure hydrocephalus, Hypoplasia of the iris, Microphthalmia	OMIM:133540
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Microphthalmia, Iris col...	ORPHA:261552
Roberts Syndrome	Polyhydramnios, High palate, Cleft palate, Microphthalmia	ORPHA:3103
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Duodenal atresia, Lobar holoprosencephaly, Optic nerve hypoplasia	ORPHA:468631
Branchiooculofacial Syndrome	Gastroesophageal reflux, Retinal coloboma, Branchial anomaly, Anophthalmia, Microphthalmia, Iris ...	OMIM:113620
Cockayne Syndrome	Vascular calcification, Gastroesophageal reflux, Retinal arteriolar constriction, Atherosclerosis...	ORPHA:191
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Perimembranous ventricular septal defect, Pulmonary hypoplasia, Cleft palate, Pyloric stenosis	ORPHA:83617
Witteveen-Kolk Syndrome	High, narrow palate, Gastroesophageal reflux, Branchial fistula, Intracranial hemorrhage, Microph...	OMIM:613406
Acrofrontofacionasal Dysostosis 1	Cleft palate, Microphthalmia	OMIM:201180
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Diabetes mellitus, Increased VLDL cholesterol concen...	OMIM:243800
Traboulsi Syndrome	Bifid uvula, High palate, Microphthalmia	OMIM:601552
Pallister-Killian Syndrome	Aortic valve stenosis, Bifid uvula, Anal stenosis, Anteriorly placed anus, Umbilical hernia, Inte...	OMIM:601803
Monosomy 9P	High palate, Cleft palate, Microphthalmia	ORPHA:261112
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Ectopic anus, Esophageal atresia, Bifid tongue, Anal atresia, Hydrops fetalis, Pulmonary hypoplasia	ORPHA:93271
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Hypoplasia of the iris, Retinal arteriolar tortuosity, Ischemic...	OMIM:175780
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Ventricular septal defect, Microphthalmia	OMIM:259770
Skin Creases, Congenital Symmetric Circumferential, 2	Cleft palate, Microphthalmia	OMIM:616734
Ulbright-Hodes Syndrome	High palate, Oligohydramnios, Pneumothorax, Pulmonary hypoplasia	ORPHA:3404
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology, Cleft soft palate, Abnormal parotid gland mo...	OMIM:154500
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Norrie Disease	Hypoplasia of the iris, Venous insufficiency, Aplasia/Hypoplasia of the lens, Microphthalmia, Rem...	ORPHA:649
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325

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

IMPC Data Collections

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 21.1 Data