Gene Summary

Name:
dynein light chain LC8-type 1
Synonyms:
DLC8,  Dnclc1,  Pin,  8kDa LC

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating fructosamine level Dynll1tm1(KOMP)Wtsi HET Early adult 1.66×10-05
preweaning lethality, complete penetrance Dynll1tm1(KOMP)Wtsi HOM   Early adult 0.00
decreased circulating glucose level Dynll1tm1(KOMP)Wtsi HET Early adult 7.53×10-05
increased circulating bilirubin level Dynll1tm1(KOMP)Wtsi HET Early adult 1.09×10-05
increased circulating alkaline phosphatase level Dynll1tm1(KOMP)Wtsi HET Early adult 3.90×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 84 images

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.

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 Similarity of
phenotypes
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