Gene Summary

Name:
latent transforming growth factor beta binding protein 1
Synonyms:
Ltbp1L,  LTBP-1,  9430031G15Rik,  b2b1000Clo

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
abnormal tooth morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 1.22×10-07
increased circulating bilirubin level Ltbp1tm1a(EUCOMM)Wtsi HET Early adult 3.64×10-05
abnormal radius morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 1.86×10-09
abnormal cranium morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 2.99×10-09
decreased total body fat amount Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 9.33×10-07
abnormal snout morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 1.63×10-11
abnormal ulna morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 4.56×10-08
decreased body length Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 4.30×10-07
increased hemoglobin content Ltbp1tm1a(EUCOMM)Wtsi HOM   Early adult 8.84×10-05
abnormal incisor morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 9.75×10-05
decreased body weight Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 3.95×10-11

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (3 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote 66.67% (2 of 3)
Heart N/A heterozygote 66.67% (2 of 3)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 33.33% (1 of 3)
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 33.33% (1 of 3)
Lower urinary tract N/A heterozygote 66.67% (2 of 3)
Lung N/A heterozygote 33.33% (1 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 66.67% (2 of 3)
Oviduct N/A heterozygote 66.67% (2 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote 0.0% (0 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 33.33% (1 of 3)
Spinal cord N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 100% (3 of 3)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 33.33% (1 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 33.33% (1 of 3)
Trachea N/A heterozygote 66.67% (2 of 3)
Uterus N/A heterozygote 33.33% (1 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

5 Images

Legacy Phenotype Associated Images

View all 135 images

View all 7 images

Human diseases caused by Ltbp1 mutations

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

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

The table below shows human diseases associated to Ltbp1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ltbp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Genitopalatocardiac Syndrome
Double outlet right ventricle, Hypospadias, Ventricular septal defect, Renal cyst, Transposition ... OMIM:231060
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Cysteine Peptiduria
Abnormal circulating cysteine concentration, Abnormal circulating glycine concentration OMIM:219550
Sarcosinemia
Hypersarcosinemia OMIM:268900
Maple Syrup Urine Disease, Mild Variant
Hyperleucinemia, Hyperisoleucinemia OMIM:615135
Schizophrenia 4
Hyperprolinemia OMIM:600850
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis, Truncus arteriosus OMIM:274210
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... ORPHA:1209
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Oligodontia, Flared metaphysis,... OMIM:601668
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Cyanosis... OMIM:616749
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Cortical Blindness, Retardation, And Postaxial Polydactyly
Long philtrum, Short nose, Microretrognathia OMIM:218010
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus OMIM:228940
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Meacham Syndrome
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Diaphragmatic eve... OMIM:608978
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... ORPHA:3104
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Neonatal Hemochromatosis
Micrognathia, Congenital hepatic fibrosis, Prominent nose, Prolonged neonatal jaundice, Anteverte... ORPHA:446
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Webbed neck, Atrial septal defect, Cyanosis, Tetralogy of Fallot, Ventricular ... OMIM:617478
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Dilatation of the cerebral artery, Hepatic cysts OMIM:600666
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Truncus arteriosus OMIM:601355
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Unilateral renal ag... OMIM:618845
Metaphyseal Anadysplasia
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... ORPHA:1040
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnorm... ORPHA:1837
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... OMIM:173900
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Clinodactyly of the 5th finger, Bilateral single transverse palmar ... ORPHA:1094
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Microphallus, Tetralogy of Fallot, Micropenis OMIM:615542
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Short nose, Anteverted nares, Thin upper lip vermilion ORPHA:2015
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... OMIM:617912
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Heart-Hand Syndrome Type 2
Abnormal morphology of ulna, Hand polydactyly, Abnormality of the dentition, Micromelia, Abnormal... ORPHA:1350
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal hypoplasia/aplasia, Renal agenesis, Ventricular septal defect, Abnormal aortic morphology, ... ORPHA:2516
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Urethral stenosis, Transp... ORPHA:1727
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
17Q21.31 Microduplication Syndrome
High palate, Malar flattening, Abnormality of the dentition, Short philtrum, Micrognathia, Short ... ORPHA:217340
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Glycogen Storage Disease Iii
Hepatomegaly, Malar flattening, Thin vermilion border, Broad nasal tip, Depressed nasal bridge, E... OMIM:232400
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Enlarged kidney, Situs inversus... OMIM:615415
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Langer Mesomelic Dysplasia
High palate, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Mesomelic... ORPHA:2632
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Filippi Syndrome
Decreased body weight, Hypodontia, Thin vermilion border, Short philtrum, Cutaneous syndactyly, F... OMIM:272440
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy ORPHA:3033
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Ectopic kidney, Truncu... ORPHA:401935
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... ORPHA:1570
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Acrorenal Syndrome
Abnormal morphology of ulna, Cleft palate, Micrognathia, Abnormality of tibia morphology, Aplasia... ORPHA:971
Distal Trisomy 14Q
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Depressed nasal bridge, Short nose, Short columella OMIM:155050
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double out... OMIM:306955
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Maxillonasal Dysplasia
Tooth agenesis, Cleft palate, Open bite, Depressed nasal ridge, Depressed nasal bridge, Abnormali... ORPHA:1248
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares OMIM:614069
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Abnormality of the dentition, Genu varum, Short lower limbs, Carious teeth... ORPHA:2501
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla, Malar flattening OMIM:122880
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch OMIM:617577
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... ORPHA:1447
Adams-Oliver Syndrome 6
Ventricular septal defect, Renal hypoplasia, Truncus arteriosus OMIM:616589
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Cyanosis, Coarctation o... ORPHA:3426
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... OMIM:601186
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... OMIM:605282
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Stroke, Nephropathy, Hematuria, Renal cyst, Dilatation of the cerebral artery, Vascular dilatatio... OMIM:611773
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Leri-Weill Dyschondrosteosis
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... OMIM:127300
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Lethal Osteosclerotic Bone Dysplasia
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Gingival fibromatosis, Sh... ORPHA:1832
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... ORPHA:1193
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysp... ORPHA:71289
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Acrodysostosis
Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radius, Cone-shaped epiphysi... ORPHA:950
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia, Renovascular hypertension OMIM:135580
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... ORPHA:1275
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Cyanosis, Abnormal coronary artery morp... ORPHA:980
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Broad palm... OMIM:300602
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Adams-Oliver Syndrome 4
Atrial septal defect, Cutis marmorata, Ventricular septal defect, Patent ductus arteriosus, Umbil... OMIM:615297
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Neonatal death, Camptodactyly, Patent ductus arteriosus, Death in infancy, Perimembra... OMIM:608104
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Everted lower lip vermilion, Broad nasal tip, Long philtrum, Deep p... OMIM:137550
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Tetralogy of Fallot, Ventricular septal defect, A... ORPHA:1166
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Prominent nasal bridge OMIM:608432
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Death in childhood, Spinal muscula... OMIM:253300
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... OMIM:600001
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Everted lower lip vermilion, Micrognathia, Depressed nasal bridge, Lon... ORPHA:261120
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Broad long bones, Macrodontia of permanent maxillary central i... OMIM:257850
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Broad palm... OMIM:300431
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Cleft palate, Everted lower lip vermilion, Broad nasal tip, ... OMIM:619736
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... ORPHA:1263
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip ORPHA:2776
Stankiewicz-Isidor Syndrome
Micropenis, Hypospadias, Ureteral duplication, Ventricular septal defect, Patent ductus arteriosu... OMIM:617516
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridg... ORPHA:1529
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... OMIM:618729
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Micropenis, Renal agenesis, Pulmonary artery hypoplasia, Anomalous... ORPHA:2326
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, ... OMIM:609029
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Facial palsy, Right aortic arch, Patent ductus arteriosus OMIM:147770
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect, Vascular ring OMIM:603387
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... OMIM:610205
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Feingold Syndrome Type 1
Tricuspid atresia, Nephritis, Tricuspid stenosis, Abnormality of the kidney, Renal dysplasia, Pat... ORPHA:391641
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Malar flattening, Aplasia/Hypoplasia of the ... ORPHA:52056
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... OMIM:618363
Rhiny
Thin vermilion border, Short nose, Anteverted nares OMIM:180360
Wt Limb-Blood Syndrome
Hypoplastic anemia, Clinodactyly of the 5th finger, Absent thumb, Retrognathia, Micrognathia, Uln... OMIM:194350
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Broad nasal tip, Narrow nasal bridge, Broad ph... ORPHA:166108
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Vascular dil... OMIM:617056
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Distal Tetrasomy 15Q
Atrial septal defect, Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Pat... ORPHA:314588
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Everted lower lip vermilion, Micrognathia, Depressed nasal bridg... ORPHA:1695
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... OMIM:600987
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypodontia, Macrodontia, Bifid... OMIM:263540
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia, Wide nasal bridge OMIM:262020
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor... ORPHA:1077
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Tetrasomy X
Clinodactyly of the 5th finger, Abnormality of the dentition, Brachydactyly, Radioulnar synostosi... ORPHA:9
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... ORPHA:99094
Acrocardiofacial Syndrome
Mitral stenosis, Atrial septal defect, Camptodactyly of finger, Coarctation of aorta, Tetralogy o... ORPHA:2008
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Cardioacrofacial Dysplasia 2
Common atrium, Left superior vena cava draining to coronary sinus, Atrioventricular canal defect OMIM:619143
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Abnormal metacarpal morphology, Obesity, Abnormal morphology of ulna ORPHA:2233
Heart And Brain Malformation Syndrome
Ventricular septal defect, Limb hypertonia, Interrupted aortic arch, Camptodactyly of finger OMIM:616920
Fetal Encasement Syndrome
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot OMIM:613630
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Diastasis recti, Pulmonary valve atresi... OMIM:265380
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... OMIM:618316
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cohen Syndrome
Neutropenia, Macrodontia of permanent maxillary central incisor, High, narrow palate, Small for g... OMIM:216550
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Convex nasal ridge, Thin vermilion border, Short philtrum, Hypoplasia of... OMIM:156510
Humero-Radio-Ulnar Synostosis
Elbow ankylosis, Radioulnar synostosis, Abnormal thumb morphology, Abnormal metacarpal morphology... ORPHA:3266
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Malar flattening, Retrognathia, Broad nasal tip, Short nose, Open mouth OMIM:613670
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Marshall Syndrome
Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,... OMIM:154780
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Retrognathia, Micrognathia, Wide... ORPHA:2849
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Delayed eruption of teeth, Limited elbow extension, ... OMIM:265900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inversus totalis, ... OMIM:613095
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Elevated h... ORPHA:369
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Everted lower lip vermilion, Short philtrum, Short nose, Mandibular prognathia, Thin ... ORPHA:2429
Transaldolase Deficiency
Wide mouth, Decreased liver function, Wide anterior fontanel, Hepatomegaly, Micronodular cirrhosi... OMIM:606003
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Microretrognathia, Abnormal morphology of ulna, Cleft palate, Split fo... ORPHA:1307
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Congenital hip dislocation, Limited elbow extension, Incisor macrodontia, Wi... OMIM:619719
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... OMIM:602418
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Tricho-Dento-Osseous Syndrome
Taurodontia, Periapical tooth abscess, Finger clinodactyly, Microdontia, Widely spaced teeth, Ena... ORPHA:3352
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Spina bifida occulta, Transposition of the great arteries, Perimembranous vent... OMIM:617877
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Dental Anomalies And Short Stature
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601216
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
Osteolysis Syndrome, Recessive
Broad nasal tip, Hypoplasia of the maxilla OMIM:259610
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis OMIM:613313
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Cyanosis, Tetralogy of Fa... ORPHA:3304
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Pulmonary artery hyp... OMIM:613426
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Mental Retardation, X-Linked 91
High palate, Short nose, Macrodontia OMIM:300577
Facial Paresis, Hereditary Congenital, 3
Micrognathia, Depressed nasal bridge, Downturned corners of mouth, Short nose, Anteverted nares, ... OMIM:614744
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Finger join... ORPHA:49042
Velocardiofacial Syndrome
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Umb... OMIM:192430
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Muscular ventricular septal defect, Camptodactyly, Patent ductus arteriosus... ORPHA:363444
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hepatic fibrosis, Prolonged neo... OMIM:231100
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Convex nasal ridge, Periportal fibrosis, Retrognathia, Micrognathia, Unde... OMIM:263210
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Hepatic cysts, Tubulointerstitial fibrosis, En... OMIM:263200
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Micropenis, Tetralogy of Fallot, ... OMIM:618280
Multiple Epiphyseal Dysplasia Type 4
High palate, Short metacarpal, Cleft palate, Arthralgia of the hip, Abnormal hand morphology, Upp... ORPHA:93307
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... OMIM:616278
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Splenomegaly OMIM:271500
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Short philtrum, Bulbous nose, Hypoplasia of the maxilla ORPHA:93945
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Anteverted nares, Thin upper lip vermilion, Smooth philtrum ORPHA:46
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot ORPHA:251076
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Bulbous nose, Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth... OMIM:618737
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Emanuel Syndrome
Multiple joint contractures, Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Congenit... ORPHA:96170
Pallister W Syndrome
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Camptodactyly, Hypopla... OMIM:311450
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Prominent... OMIM:302350
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Micrognathia, Short nose, Long philtrum ORPHA:2598
Burn-Mckeown Syndrome
Bilateral choanal atresia, Short nose, Abnormal palate morphology, Prominent nasal bridge, Wide n... ORPHA:1200
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Double aortic arch, Cyanosis, Tetralogy of Fallot, Ventri... ORPHA:95430
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Small for gestational age, Retrognathia, Micrognathia, Hypoplasia of the radius, Sh... OMIM:227270
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Hypospadias, Tetralogy of Fallot ORPHA:1919
Lowry-Maclean Syndrome
Convex nasal ridge, High, narrow palate, Cleft palate, Abnormality of the abdominal organs, Retro... ORPHA:2409
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... ORPHA:2751
Peho-Like Syndrome
Retrognathia, Short nose, Open mouth OMIM:617507
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
20P12.3 Microdeletion Syndrome
Narrow mouth, Malar flattening, Depressed nasal bridge, Long philtrum, Hypoplasia of the maxilla,... ORPHA:261295
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... ORPHA:2255
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Single transverse palmar crease, Brachydactyly, Notched primary central incisor, Adducted thumb OMIM:620062
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Polycystic kidney dysplasia, Pericardial effusion OMIM:608776
Cleft Velum
Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate ORPHA:99772
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Perlman Syndrome
Nephrogenic rest, Nephroblastoma, Renal hamartoma, Nephroblastomatosis, Interrupted aortic arch OMIM:267000
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Wide nasal bridge OMIM:618302
Retinitis Pigmentosa 89
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation OMIM:618955
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Cleft palate, Micrognathia, Short nose, Wide nasal bridge OMIM:614078
Fetal Valproate Spectrum Disorder
Narrow mouth, Depressed nasal ridge, Thin vermilion border, Long philtrum, Downturned corners of ... ORPHA:1906
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Ellis-Van Creveld Syndrome
Atrial septal defect, Delayed eruption of teeth, Common atrium, Natal tooth, Ectodermal dysplasia OMIM:225500
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... OMIM:271700
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Frontonasal Dysplasia 1
Median cleft palate, Broad nasal tip, Bifid nose, Hypoplastic frontal sinuses, Bifid nasal tip, H... OMIM:136760
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Microretrognathia, Cleft palate, Hypoplasia of the maxilla OMIM:246560
Trisomy 17P
Aortic valve stenosis, Hypoplasia of penis, Hypoplastic left heart, Polycystic kidney dysplasia, ... ORPHA:261290
Dpm1-Cdg
U-Shaped upper lip vermilion, Hepatomegaly, High, narrow palate, Micrognathia, Depressed nasal br... ORPHA:79322
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hypomandibular Faciocranial Dysostosis
Pursed lips, Malar flattening, Micrognathia, Aglossia, Hypoplasia of the maxilla, Choanal stenosis OMIM:241310
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short nose, Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyly of finger, Micr... ORPHA:2741
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Sandestig-Stefanova Syndrome
Short neck, Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal ... OMIM:618804
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Cyanosi... ORPHA:1461
Myopathy, Congenital, Nonprogressive
Weakness of facial musculature, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:619967
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Syndactyly, Carious ... OMIM:613684
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Atrial septal defect, Enlarged kidney, Situs inversus totalis, Hepatic cys... OMIM:208540
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Long philtrum, Short nose, Microretrognathia ORPHA:1389
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Craniofacioskeletal Syndrome
Atrial septal defect, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Hydroneph... OMIM:300712
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia OMIM:615502
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Intellectual Developmental Disorder, X-Linked 21
Short nose, Tented upper lip vermilion, Open mouth, Dental crowding, Mandibular prognathia OMIM:300143
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Anteverted nares, Short nose ORPHA:1450
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Abnormal renal morpho... ORPHA:477817
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Long philtrum, Short nose, Anteverted nares, Wide nasal bridge OMIM:616430
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failur... OMIM:278000
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,... OMIM:616367
1Q21.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Hydronephrosis, Interrupted aortic ... ORPHA:250989
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Long philtrum, Hypoplasia o... ORPHA:2878
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Coach Syndrome 2
Elevated hepatic transaminase, Hepatic fibrosis, Portal fibrosis, Congenital hepatic fibrosis OMIM:619111
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... OMIM:619662
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis ORPHA:1988
Chung-Jansen Syndrome
High palate, Thin vermilion border, Micrognathia, Short philtrum, Long philtrum, Short nose, Ante... OMIM:617991
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure ORPHA:466794
Stickler Syndrome Type 1
Short nose, Long philtrum, Hypoplasia of the maxilla, Cleft palate ORPHA:90653
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Abnormal palate morphology, Micrognathia, Narrow mouth, Short nose ORPHA:1495
Ohdo Syndrome
Narrow mouth, Thin vermilion border, Micrognathia, Depressed nasal bridge, Long philtrum, Wide na... OMIM:249620
Fibular Hemimelia
Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Robinow Syndrome, Autosomal Recessive 2
Gingival overgrowth, Triangular mouth, Abnormality of the dentition, Micrognathia, Broad nasal ti... OMIM:618529
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Mandibular prognathia, Hypoplasia of the maxilla, Prominent nasal bridge OMIM:300676
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Micrognathia, Microdontia, Short nose, Open mouth, Anteverted nares, Delayed erupti... OMIM:619356
Camurati-Engelmann Disease
Abnormality of femur morphology, Abnormality of the humerus, Delayed eruption of teeth, Carious t... ORPHA:1328
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Wide anterior fontanel, Hepatomegaly, Splenomegaly, Depressed nasal bridge, Long philtrum, Choles... OMIM:610199
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Short nose, Narrow nasal bridge ORPHA:1514
Spondylospinal Thoracic Dysostosis
Micrognathia, Hypoplasia of the maxilla OMIM:601809
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Increased variability in muscle fiber diameter, Coarctation of aorta, Increa... ORPHA:17
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:617044
Chromosome 9P Deletion Syndrome
Atrial septal defect, Short neck, Ventricular septal defect, Patent ductus arteriosus, Perimembra... OMIM:158170
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Malar flattening, Mesomelic arm shortening, Absent radius, Short... OMIM:171480
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Unilateral renal agenesis, Cystic renal... OMIM:156810
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... ORPHA:2209
Distal Trisomy 18Q
High palate, Micrognathia, Carious teeth, Short nose, Choanal atresia, Anteverted nares, Abnormal... ORPHA:1716
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
High palate, Failure to thrive, Short toe, Talipes equinovarus, Flexion contracture, Malar flatte... ORPHA:98791
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Short philtrum, Diastema, Overhanging nasal tip, Conical tooth, Hypoplas... OMIM:619142
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Micropenis, Hypospadias, Intracranial hemorrhage, Ventricular septal defect... ORPHA:163979
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal cy... OMIM:619902
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Mohr Syndrome
High palate, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the maxilla, Partial d... OMIM:252100
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Prune Belly Syndrome
Urogenital sinus anomaly, Atrial septal defect, Abnormality of the ureter, Recurrent urinary trac... ORPHA:2970
Transaldolase Deficiency
Atrial septal defect, Coarctation of aorta, Biventricular hypertrophy, Premature skin wrinkling, ... ORPHA:101028
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Short nose, Thin upper lip vermilion, Smooth philtrum ORPHA:438178
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... ORPHA:1120
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Lujan-Fryns Syndrome
High palate, Abnormality of the dentition, Short philtrum, Micrognathia, Hypoplasia of the maxill... ORPHA:776
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated circulating alanine am