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
decreased body weight Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 1.03×10-13
increased circulating bilirubin level Ltbp1tm1a(EUCOMM)Wtsi HET Early adult 3.64×10-05
decreased total body fat amount Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 5.21×10-09
abnormal snout morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 3.25×10-12
vertebral fusion Ltbp1tm1a(EUCOMM)Wtsi HOM   Early adult 5.49×10-05
abnormal ulna morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 1.33×10-11
abnormal tooth morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 2.65×10-10
decreased bone mineral content Ltbp1tm1a(EUCOMM)Wtsi HOM   Early adult 2.20×10-05
abnormal cranium morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 1.87×10-12
abnormal radius morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 1.77×10-12
abnormal incisor morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 1.73×10-06
abnormal coat/hair pigmentation Ltbp1tm1a(EUCOMM)Wtsi HOM   Early adult 9.98×10-05
decreased body length Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 1.03×10-07
increased hemoglobin content Ltbp1tm1a(EUCOMM)Wtsi HOM   Early adult 8.23×10-05

Download data as:  TSV  XLS

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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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
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

10 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
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Double outlet ri... OMIM:231060
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
Cysteine Peptiduria
Abnormal circulating glycine concentration, Abnormal circulating cysteine concentration OMIM:219550
Sarcosinemia
Hypersarcosinemia OMIM:268900
Maple Syrup Urine Disease, Mild Variant
Hyperisoleucinemia, Hyperleucinemia OMIM:615135
Schizophrenia 4
Hyperprolinemia OMIM:600850
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
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ... ORPHA:1209
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Cyanosis, Abnormal a... ORPHA:860
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo... ORPHA:3104
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Transposition of the great arteries, Common atrium, Diap... OMIM:608978
Neonatal Hemochromatosis
Anteverted nares, Prolonged neonatal jaundice, Micrognathia, Congenital hepatic fibrosis, Promine... ORPHA:446
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Cyanosis, Webbed neck, Interrupted aortic arch, Right aortic arch, Truncus art... OMIM:617478
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... OMIM:618845
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral artery OMIM:600666
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Bowing of the long bones, J... ORPHA:1040
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... ORPHA:1837
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis OMIM:601355
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Miscarriage, Truncus arteriosus, Pulmonary ... OMIM:620294
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... ORPHA:1570
Anonychia-Microcephaly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Aplastic/hypoplastic ... ORPHA:1094
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormal palate morphology, Abnormal shoulder morphology, Abnormality of th... ORPHA:1350
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Renal... OMIM:173900
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic acidemia, Hyperhomocystinemia OMIM:613646
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d... ORPHA:90650
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc... OMIM:618300
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Scoliosis, Hyperlordosis, Bowing of... ORPHA:2501
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti... OMIM:113000
Filippi Syndrome
Thin vermilion border, Finger clinodactyly, Short philtrum, Single transverse palmar crease, Serr... OMIM:272440
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia, Cleft palate, Thin upper lip vermilion ORPHA:2015
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle,... OMIM:617912
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Hydronephrosis, Tetralogy of Fallot... ORPHA:1727
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... ORPHA:3344
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal hypoplasia/aplasia, Truncus arteriosus, Abnormal aortic morphology, Renal agenesis, Ventric... ORPHA:2516
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Accelerated s... ORPHA:950
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Glycogen Storage Disease Iii
Thin vermilion border, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bro... OMIM:232400
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... ORPHA:1457
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
17Q21.31 Microduplication Syndrome
Short nose, Short philtrum, Anteverted nares, High palate, Abnormality of the dentition, Microgna... ORPHA:217340
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial s... ORPHA:401935
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Microdontia, Tooth age... ORPHA:1248
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Aplastic/hypoplastic toenail, Tibial bow... ORPHA:240
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior ven... OMIM:306955
Rubinstein-Taybi Syndrome 2
Narrow palate, Short 5th toe, Retrognathia, Short first metatarsal, Increased overbite, Highly ar... OMIM:613684
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Highly arched eyebrow, Short metacarpal, M... OMIM:605282
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Distal Duplication 14Q
Abnormal aortic morphology, Abnormality of the upper urinary tract, Patent ductus arteriosus ORPHA:1705
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Clark-Baraitser syndrome
Genu valgum, Thick lower lip vermilion, Genu recurvatum, Scoliosis, Prominent median palatal raph... OMIM:300602
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Scimitar Syndrome
Mitral atresia, Hypoplasia of the diaphragm, Abnormal heart morphology, Interrupted inferior vena... ORPHA:185
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the philtrum, Scoliosis, Abnorm... ORPHA:3268
Maxillonasal Dysplasia, Binder Type
Short nose, Dental malocclusion, Depressed nasal bridge, Short columella OMIM:155050
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, High palate... ORPHA:2632
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal metacarpal morphology, Abnormal hair quantity, High palate, Low posterior hairline, Obes... ORPHA:2233
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Genu valgum, Cubitus valgus, Delayed erupt... OMIM:265900
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Aarskog-Scott Syndrome
Everted lower lip vermilion, Umbilical hernia, Joint hypermobility, Long philtrum, Inguinal herni... ORPHA:915
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Abnormality of the nail, Abno... ORPHA:3352
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Adams-Oliver Syndrome 6
Renal hypoplasia, Truncus arteriosus, Ventricular septal defect OMIM:616589
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Elbow pain, Congenital finger flexion contracture... ORPHA:93320
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Double Outlet Right Ventricle
Cyanosis, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, ... ORPHA:3426
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Short long bone, Hyperlordosis, Knee dislocation, Tooth agenesis, Accelerated ske... OMIM:618363
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal form of the vertebral bodies, Scoliosis, Decreased skull ossification, Thrombocy... ORPHA:3319
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Short nose, Gingival fibromatosis, Anteverted nares, Gingival overgrowth, Mandibula... ORPHA:1832
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of Fallot, Microphallus OMIM:615542
Kbg Syndrome
Finger clinodactyly, Single transverse palmar crease, Oligodontia, Scoliosis, Thoracic kyphosis, ... ORPHA:2332
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Scoliosis, Incisor macrodontia, Congenital hip dislocation, Cafe-au-lait... OMIM:619719
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmoni... OMIM:615415
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Cleft palate, A... ORPHA:971
Atkin-Flaitz Syndrome
Anteverted nares, Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral in... ORPHA:1193
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal dental enamel mor... ORPHA:2916
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Hypoplastic left ... OMIM:601186
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Hypoplastic thumbnail, Osseous finger syndactyly, Triangular sha... ORPHA:370010
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Jo... ORPHA:85198
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Multiple Epiphyseal Dysplasia Type 4
Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Accelerated skeletal maturati... ORPHA:93307
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Dilatation of the cerebral artery OMIM:174050
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the dentition ORPHA:2776
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Melanocytic Nevus Syndrome, Congenital
Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O... OMIM:137550
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Patent foramen ovale, Truncus arteriosus, Abnormal inferior ve... ORPHA:980
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Fibromuscular Dysplasia, Arterial
Aortic dissection, Renovascular hypertension, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Long nose, Dental crowding, Delaye... OMIM:257850
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Anteverted nares, Enamel hypoplasia, Long philtr... OMIM:166750
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Verheij Syndrome
Truncus arteriosus, Renal cyst, Renal agenesis, Renal hypoplasia, Ventricular septal defect OMIM:615583
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ... ORPHA:93315
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Cohen Syndrome
Childhood-onset truncal obesity, Bone spicule pigmentation of the retina, Short metacarpal, Leuko... OMIM:216550
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar s... ORPHA:71289
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Abnormal aortic morphology, Tetralogy of Fallot,... ORPHA:1166
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g... OMIM:600001
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Teebi Hypertelorism Syndrome 2
Short nose, Delayed eruption of teeth, Wide anterior fontanel, High palate, Everted lower lip ver... OMIM:619736
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst, Dilatation of the cerebral artery, Lacunar stroke, Re... OMIM:611773
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Camptodactyly, Death in infancy, Neonatal death, Patent... OMIM:608104
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Cutis marmorata, Umbilical hernia, Atrial septal defect, Ventricular se... OMIM:615297
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septa... OMIM:249670
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
14Q11.2 Microdeletion Syndrome
Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Micr... ORPHA:261120
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Cleft palate, A... OMIM:618469
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Widely spaced teeth, Clinodactyly of the 5th finger, Sh... OMIM:135100
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopat... ORPHA:1909
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Spondylocarpotarsal Synostosis Syndrome
Hyperlordosis, Short metacarpal, Delayed skeletal maturation, Tarsal synostosis, Inguinal hernia,... OMIM:272460
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Intellectual Disability, Birk-Barel Type
High, narrow palate, Limited elbow flexion/extension, Sacral dimple, Short philtrum, Foot joint c... ORPHA:166108
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten... ORPHA:2972
Spinal Muscular Atrophy, Type I
Death in childhood, Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricul... OMIM:253300
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Ring Chromosome 4 Syndrome
Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the... ORPHA:1447
Craniofacial-Deafness-Hand Syndrome
Short nose, Narrow mouth, Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridg... ORPHA:1529
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Wide n... OMIM:618729
Robinow Syndrome, Autosomal Recessive 1
Nail dysplasia, Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm short... OMIM:268310
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Truncus arteriosus, Patent ductus arteriosus, Ventricular sept... OMIM:617516
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Death in infancy, Abnormal mitral valve morphology, Abnormal... ORPHA:1354
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Proximal s... OMIM:610017
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Rhiny
Thin vermilion border, Short nose, Anteverted nares OMIM:180360
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At... OMIM:600987
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal insufficiency, Renal cyst, Pulmonic stenosis, Renal hypo... OMIM:610205
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Feingold Syndrome Type 1
Abnormality of the kidney, Tricuspid atresia, Interrupted aortic arch, Vesicoureteral reflux, Tri... ORPHA:391641
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Metaphyseal irregularit... OMIM:619636
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Non-Distal Duplication 10Q
Short nose, High palate, Everted lower lip vermilion, Micrognathia, Convex nasal ridge, Depressed... ORPHA:1695
Distal Triplication 15Q
Abnormality of the kidney, Hypoplastic aortic arch, Polycystic kidney dysplasia, Hydronephrosis, ... ORPHA:314588
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
You-Hoover-Fong Syndrome
Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Right aortic arch, Vesicoureter... OMIM:301111
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped... ORPHA:485
Aortic Valve Disease 1
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Mitral stenosis, Tetral... OMIM:109730
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha... ORPHA:189
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Abnormal oral cavity morphology, Anteverted nares, Narrow mouth, Depressed nasal ridge ORPHA:1355
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Neph... OMIM:617056
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Premature loss of teeth, Hypoplasia of the maxilla, Convex... OMIM:156510
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
High anterior hairline, Single transverse palmar crease, Notched primary central incisor, Sparse ... OMIM:620062
Marshall Syndrome
Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul... OMIM:154780
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Sele... ORPHA:49042
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts ORPHA:2924
Acrocardiofacial Syndrome
Truncus arteriosus, Death in infancy, Camptodactyly of finger, Coarctation of aorta, Mitral steno... ORPHA:2008
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Limited elbow extension and supination, Cleft upper lip, Cleft pa... OMIM:244600
Camurati-Engelmann Disease
Abnormal femur morphology, Cachexia, Hyperlordosis, Kyphosis, Leukopenia, Splenomegaly, Craniofac... ORPHA:1328
Aortic Arch Interruption
Transposition of the great arteries, Cyanosis, Patent ductus arteriosus, Aortic valve atresia, Ao... ORPHA:2299
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Premature graying of hair, Abnormal left ventricle morphology, Premature cor... OMIM:300845
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Short nose, Broad nasal tip, Malar flattening, Open mouth OMIM:613670
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Camptodactyly of finger, Ventricular septal defect, Limb hypertonia OMIM:616920
Cardioacrofacial Dysplasia 2
Common atrium, Left superior vena cava draining to coronary sinus, Atrioventricular canal defect OMIM:619143
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia, Recurrent urinary tract infections, Polycystic kidney dyspl... OMIM:613095
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Avascular necrosis, Multiple bony cystic lesions, Atrophy of alveolar ridges... ORPHA:83451
Rothmund-Thomson Syndrome Type 2
Nail dysplasia, Aplastic anemia, Long nose, Aplasia/hypoplasia involving bones of the upper limbs... ORPHA:221016
Emanuel Syndrome
Congenital diaphragmatic hernia, Torticollis, Hydrocephalus, Truncus arteriosus, Thickened nuchal... OMIM:609029
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Butterfly vertebrae, Dental crowding, 2-3 toe syndactyly, Thoracic kyphoscoliosis,... ORPHA:313892
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Red hair, Short metatarsal, Mandibular prognathia, Short metacarpal, Short phalanx of... OMIM:614613
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Rothmund-Thomson Syndrome
Nail dysplasia, Aplastic anemia, Reduced bone mineral density, Small nail, Hypopigmentation of th... ORPHA:2909
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Ritscher-Schinzel Syndrome 1
Hypospadias, Pulmonic stenosis, Aortic valve stenosis, Hydronephrosis, Tetralogy of Fallot, Doubl... OMIM:220210
Prader-Willi Syndrome Due To Imprinting Mutation
Abnormal ulnar metaphysis morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Nar... ORPHA:177910
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ... ORPHA:3320
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet r... OMIM:179613
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Trisomy 4P
Abnormal palate morphology, Radial club hand, Scoliosis, Abnormality of the dentition, Camptodact... ORPHA:1738
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Clinodactyly of the 5th finger, Anemia, Everted lower lip vermilion, Synophr... OMIM:618067
Trichodentoosseous Syndrome
Widely spaced teeth, Abnormal hair morphology, Increased bone mineral density, Microdontia, Fragi... OMIM:190320
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the pulmonary veins, Patent fo... OMIM:265380
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Perlman Syndrome
Retrognathia, High, narrow palate, Short nose, Hepatomegaly, Abnormal pancreas morphology, Broad ... ORPHA:2849
Cardiac-Urogenital Syndrome
Enlarged kidney, Patent urachus, Penoscrotal hypospadias, Patent ductus arteriosus, Mesocardia, D... OMIM:618280
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Wide mouth, Thin ... ORPHA:2429
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo... ORPHA:2741
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Transaldolase Deficiency
Decreased liver function, Thin vermilion border, Cirrhosis, Hepatomegaly, Short philtrum, Wide an... OMIM:606003
Otopalatodigital Syndrome Type 2
Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Fibular aplasia, Tarsal ... ORPHA:90652
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Oligodontia, Choles... OMIM:607626
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Scolios... OMIM:234250
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Cleft palate, Narrow pelvis bone, Short neck, Abno... ORPHA:66637
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Epidermolysis Bullosa, Junctional 1A, Intermediate
Nail dystrophy, Patchy alopecia, Camptodactyly of finger, Fragile nails, Carious teeth, Enamel hy... OMIM:226650
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Spondylolisthesis, Craniosynostosis, Cervical spinal canal stenosis, Tarsal synostosis, Inguinal ... OMIM:178110
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
2Q31.1 Microdeletion Syndrome
Sandal gap, Everted lower lip vermilion, Kyphosis, Delayed skeletal maturation, Long philtrum, Ab... ORPHA:251014
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot, Horseshoe kidney OMIM:613630
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Periportal fibrosis, Wide anterior fontanel, Micrognathia, Smooth philtrum, Convex ... OMIM:263210
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Low posterior hairline, Umbilical hernia,... OMIM:618000
Tooth Agenesis, Selective, 9
Selective tooth agenesis, Microdontia, Taurodontia OMIM:617275
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis OMIM:271500
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:369
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Malar flattening, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the... ORPHA:52056
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia, Bulbous nose, Short philtrum ORPHA:93945
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy... OMIM:601216
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Widely-spaced incisors, Hypoplasia of the maxilla, Smooth philtrum, Bulbous nose, Thin upper lip ... OMIM:618737
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Prominent nasal bridge, Mulberry mo... OMIM:302350
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H... OMIM:613313
Intellectual Developmental Disorder, X-Linked 91
Short nose, High palate, Macrodontia OMIM:300577
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Nail dystrophy, Yellow nails, Ridged nail, Conical incisor, Sparse lateral eyebrow, Onycholysis, ... OMIM:614564
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Hypopigmentation of hair, Abnormal dental enamel morphology, ... ORPHA:96169
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Platyspondyly, Thick hair, Delayed eruption of teeth, Slow-growin... ORPHA:2107
Eem Syndrome
Widely spaced teeth, Finger syndactyly, Selective tooth agenesis, Sparse scalp hair, Ectrodactyly... ORPHA:1897
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Pathologic fracture, Osteolysis, Rickets, Abnormality of the sphenoid ... ORPHA:249
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Abnormal palate morphology, Alopecia of scalp, Reduced bone mineral de... ORPHA:2617
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Sacral dimple, Single transverse palmar crease, Incisor macrodontia, Narro... OMIM:615502
8P23.1 Duplication Syndrome
Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot, Pulmonic stenosis ORPHA:251076
Ellis Van Creveld Syndrome
Nail dysplasia, Microdontia, Abnormal oral frenulum morphology, Delayed skeletal maturation, Shor... ORPHA:289
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Hemochromatosis, Neonatal
Cirrhosis, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice, Hepatic fibrosis, H... OMIM:231100
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Smooth philtrum, Long philtrum, Thin upper lip vermilion ORPHA:46
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Short nose, Anteverted nares, Exaggerated cupid's bow, Wide mouth, Thick vermilion border, Delaye... OMIM:618506
Congenital Tracheomalacia
Cyanosis, Patent ductus arteriosus, Right aortic arch, Double aortic arch, Abnormal heart morphol... ORPHA:95430
Emanuel Syndrome
Congenital diaphragmatic hernia, Redundant neck skin, Multiple joint contractures, Delayed erupti... ORPHA:96170
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Short nose, Micrognathia, High palate ORPHA:2598
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Delayed skeletal maturation, Sh... OMIM:210720
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Cervical C2/C3 vertebral fusion, High palate, Everted lower lip vermilion, Low pos... OMIM:616549
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Low posterior hairline, Recurrent sinusitis, Joint hypermobility, Craniosy... OMIM:213980
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Rothmund-Thomson Syndrome Type 1
Nail dysplasia, Aplastic anemia, Sparse or absent eyelashes, Hypopigmentation of the skin, Short ... ORPHA:221008
Lowry-Maclean Syndrome
Retrognathia, High, narrow palate, Short nose, Talon cusp, Choanal atresia, Abnormality of the ab... ORPHA:2409
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal stenosis, Aglossia, Pursed lips OMIM:241310
Trisomy 17P
Patent ductus arteriosus, Hypoplasia of penis, Polycystic kidney dysplasia, Aortic valve stenosis... ORPHA:261290
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Camptodactyly, Abno... ORPHA:363444
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Congenital diaphragmatic hernia, Transposition of the great arteri... ORPHA:2255
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries,... OMIM:617877
Burn-Mckeown Syndrome
Abnormal palate morphology, Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide n... ORPHA:1200
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia OMIM:601775
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis OMIM:618955
20P12.3 Microdeletion Syndrome
Narrow mouth, Hypoplasia of the maxilla, Malar flattening, Long philtrum, Wide nasal bridge, Depr... ORPHA:261295
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Short nose, Wide nose OMIM:125700
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Fetal Valproate Spectrum Disorder
Thin vermilion border, Short nose, Narrow mouth, Depressed nasal ridge, Downturned corners of mou... ORPHA:1906
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias ORPHA:1919
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognat... OMIM:610706
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Frontonasal Dysplasia 1
Short columella, Bifid nasal tip, Median cleft palate, Hypoplastic frontal sinuses, Hypoplasia of... OMIM:136760
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect, Umbilical hernia OMIM:618205
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Trichorhinophalangeal Syndrome, Type Iii
Dental crowding, Short metacarpal, Delayed skeletal maturation, Sparse hair, Long philtrum, Fine ... OMIM:190351
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Wide nasal bridge OMIM:618302
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middle phalanx of finger, Tho... OMIM:309620
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... ORPHA:1826
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... OMIM:263200
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia, Thoracic kyphoscoliosis, Short middle phalanx of the 5th finger, Cutaneous finger synda... OMIM:203550
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Peho-Like Syndrome
Retrognathia, Short nose, Open mouth OMIM:617507
Trichothiodystrophy 9, Nonphotosensitive
Nail dystrophy, High, narrow palate, Tiger tail banding, Sparse eyebrow, Brachydactyly, Sparse ha... OMIM:619692
Heterotaxy, Visceral, 5, Autosomal
Partial anomalous pulmonary venous return, Ureteral duplication, Atrioventricular canal defect, D... OMIM:270100
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Facial Paresis, Hereditary Congenital, 3
Short nose, Short philtrum, Anteverted nares, High palate, Downturned corners of mouth, Micrognat... OMIM:614744
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordosis, Kyphosis, Abnormal dental ... ORPHA:2522
Multiple Pterygium Syndrome, X-Linked
Short finger, Multiple pterygia, Joint dislocation, Cleft upper lip, Micrognathia, Cleft palate, ... OMIM:312150
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Abnormality of the nail, Conical primary incisor, Curly hair, Spar... OMIM:602400
Dpm1-Cdg
High, narrow palate, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micro... ORPHA:79322
Epidermolysis Bullosa, Junctional 4, Intermediate
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Carious teeth, Dental enamel ... OMIM:619787
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge ORPHA:2835
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se... OMIM:620570
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia... OMIM:108720
Perching Syndrome
Joint contracture, Camptodactyly, Cyanosis OMIM:617055
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Ectodermal dysplasia, Common atrium, Natal tooth, Atrial septal defect OMIM:225500
Cardioacrofacial Dysplasia 1
Short philtrum, Conical tooth, Hypoplasia of the maxilla, Overhanging nasal tip, Accessory oral f... OMIM:619142
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Retrognathia, High palate, Failure to thrive, Micrognathia, Short toe, Malar flat... ORPHA:98791
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Arachnodac... OMIM:265000
Cerebellofaciodental Syndrome
Genu valgum, Clinodactyly of the 5th finger, Dental malocclusion, Slender long bone, Single trans... OMIM:616202
Albers-Schönberg Osteopetrosis
Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Joint disloc... ORPHA:53
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Hypoplasia of the maxilla, Cleft palate, Microretrognathia OMIM:246560
Trichorhinophalangeal Syndrome, Type I
Hyperlordosis, Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of ... OMIM:190350
Tetrasomy 15Q26
Hypoplastic aortic arch, Hydronephrosis, Patent ductus arteriosus, Atrial septal defect, Horsesho... OMIM:614846
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brac... ORPHA:1436
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Vesicoureteral reflux, Hydronephrosis, Patent ductus arteriosus, Abnorma... ORPHA:250989
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Intermediate Osteopetrosis
Anemia, Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent f... ORPHA:210110
Congenital Myopathy 11
Atrial septal defect, Patent foramen ovale, Weakness of facial musculature, Patent ductus arteriosus OMIM:619967
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Hypodontia, Scoliosis, H... OMIM:212780
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Short nose, Anteverted nares ORPHA:1450
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To