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Gene: Pnn MGI:1100514

Gene Summary

Name:

pinin

Synonyms:

D12Ertd512e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
preweaning lethality, complete penetrance	Pnn^{tm1.1(KOMP)Vlcg}	HOM	Early adult
embryonic lethality prior to organogenesis	Pnn^{tm1.1(KOMP)Vlcg}	HOM	E9.5
embryonic lethality prior to tooth bud stage	Pnn^{tm1.1(KOMP)Vlcg}	HOM	E12.5

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	Section images	heterozygote	100% (2 of 2)
Cerebellum	Section images	heterozygote	100% (2 of 2)
Eye	Section images	heterozygote	100% (2 of 2)
Heart	Section images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	100% (2 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	50% (1 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	Not available
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	25% (2 of 8)
Central nervous system ganglion	N/A	heterozygote	100% (2 of 2)
Ear	N/A	heterozygote	25% (2 of 8)
Embryo	N/A	heterozygote	25% (2 of 8)
Eye	N/A	heterozygote	25% (2 of 8)
Footplate	N/A	heterozygote	25% (2 of 8)
Forebrain	N/A	heterozygote	25% (2 of 8)
Forelimb	N/A	heterozygote	25% (2 of 8)
Gut	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	heterozygote	25% (2 of 8)
Head	N/A	heterozygote	25% (2 of 8)
Heart	N/A	heterozygote	25% (2 of 8)
Hindbrain	N/A	heterozygote	25% (2 of 8)
Hindlimb	N/A	heterozygote	25% (2 of 8)
Liver	N/A	heterozygote	25% (2 of 8)
Lung	N/A	heterozygote	25% (2 of 8)
Mandibular process	N/A	heterozygote	25% (2 of 8)
Maxillary process	N/A	heterozygote	25% (2 of 8)
Midbrain	N/A	heterozygote	25% (2 of 8)
Nose	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	25% (2 of 8)
Skeleton	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	25% (2 of 8)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	heterozygote	25% (2 of 8)
Tail	N/A	heterozygote	25% (2 of 8)
Trachea	N/A	heterozygote	100% (2 of 2)
Urinary system	N/A	heterozygote	100% (2 of 2)

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%
brain	0.0%
brainstem	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	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%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
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%
vascular system	0.0%
white adipose tissue	0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

1 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Human diseases caused by Pnn mutations

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

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

Human diseases associated with Pnn (0 diseases)
Human diseases predicted to be associated with Pnn (905 diseases)

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

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

Disease	Matching phenotypes	Source
Chromosome 22Q11.2 Deletion Syndrome, Distal	Highly arched eyebrow, Truncus arteriosus, Short stature, Cleft palate, Smooth philtrum, Intraute...	OMIM:611867
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog...	OMIM:620294
Congenital Absence Of Upper Arm And Forearm With Hand Present	Stillbirth, Abnormality of the vertebral column, Congenital malformation of the great arteries, A...	ORPHA:294975
Genitopalatocardiac Syndrome	Transposition of the great arteries, Right aortic arch, Cleft upper lip, Cleft palate, Double out...	OMIM:231060
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Short thorax, Anomalous origin of left coronary artery from the pulmonary artery, ...	OMIM:618845
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomel...	ORPHA:1354
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Pectus excavatum, Coarctation of aorta, Tetralogy of Fallot,...	ORPHA:261243
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec...	OMIM:277300
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Kyphosis, Umbilical herni...	ORPHA:2311
Spondylocostal Dysostosis 4, Autosomal Recessive	Aplasia of posterior communicating artery, Pectus excavatum, Myelomeningocele, Short thorax, Scol...	OMIM:613686
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Truncus arteriosus, Abnormal aortic morphology, Cleft palate, Intrauterine g...	ORPHA:2516
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Spondylolisthesis,...	OMIM:617877
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno...	ORPHA:1797
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Fetal Trimethadione Syndrome	Transposition of the great arteries, Scoliosis, High palate, Synophrys, Tetralogy of Fallot, Intr...	ORPHA:1913
Nemaline Myopathy 9	Polyhydramnios, Narrow chest, Scoliosis, High palate, Arthrogryposis multiplex congenita, Cleft p...	OMIM:615731
Verheij Syndrome	Scoliosis, Hemivertebrae, Truncus arteriosus, Intrauterine growth retardation, Branchial cyst, Sh...	OMIM:615583
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Thick lower lip vermilion, Scoliosis, Gingival overgrowth, Abnormal...	OMIM:179613
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Eng-Strom Syndrome	Scoliosis, Pectus excavatum, Short stature, Camptodactyly of finger, Intrauterine growth retardat...	ORPHA:1937
Spondylocostal Dysostosis 2, Autosomal Recessive	Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Disproportionate sh...	OMIM:608681
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Cleft palate, Hydranencephaly	OMIM:601355
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Abnormality of the philtrum, Scoliosis, Abnormality of the dentition, Abnormal ...	ORPHA:3268
14Q24.1Q24.3 Microdeletion Syndrome	Truncus arteriosus, Pulmonary artery atresia, Synophrys, Intestinal malrotation, Abnormal heart m...	ORPHA:401935
Cerebrofaciothoracic Dysplasia	Bifid ribs, Polyhydramnios, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect...	ORPHA:1394
Emanuel Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Dental crowding, Pulmonic stenosis, Aortic valve...	ORPHA:96170
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ...	OMIM:217095
Spondylocostal Dysostosis 5	Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs...	OMIM:122600
Ritscher-Schinzel Syndrome 1	Hemivertebrae, Low posterior hairline, Anal atresia, Pulmonic stenosis, Aortic valve stenosis, Mi...	OMIM:220210
Intellectual Developmental Disorder, Autosomal Dominant 66	Transposition of the great arteries, Aortic root aneurysm, Pectus carinatum, Scoliosis, Pectus ex...	OMIM:619910
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Transposition of the great arteries, Atri...	ORPHA:251071
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Emanuel Syndrome	Congenital diaphragmatic hernia, Dental crowding, Kyphosis, Pulmonic stenosis, Aortic valve steno...	OMIM:609029
Poland Syndrome	Dextrocardia, Short ribs, Hemivertebrae, Sprengel anomaly, Rib fusion	OMIM:173800
Double Outlet Right Ventricle	Truncus arteriosus, Pulmonary artery atresia, Narrow mouth, Pulmonic stenosis, Intestinal malrota...	ORPHA:3426
Femoral-Facial Syndrome	Orofacial cleft, Inguinal hernia, Scoliosis, Vertebral segmentation defect, Abnormal rib morpholo...	ORPHA:1988
Becker Nevus Syndrome	Lipoatrophy, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Super...	ORPHA:64755
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum...	ORPHA:2345
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Interrupted aortic arch, Scoliosis, Growth delay, Cleft pala...	ORPHA:1727
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Ververi-Brady Syndrome	Transposition of the great arteries, Scoliosis, High palate, Everted lower lip vermilion, Short s...	OMIM:617982
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Transposition of the great arteries, Atrioventricular canal defect, Sacral dimple, Abnormal verte...	OMIM:314390
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Scimitar Syndrome	Mitral atresia, Abnormal heart morphology, Hernia, Interrupted inferior vena cava with azygous co...	ORPHA:185
Diabetic Embryopathy	Transposition of the great arteries, Vertebral segmentation defect, Abnormal aortic morphology, V...	ORPHA:1926
Catel-Manzke Syndrome	Highly arched eyebrow, Scoliosis, Glossoptosis, Pectus excavatum, Oral synechia, Short stature, C...	ORPHA:1388
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch...	ORPHA:860
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long philtrum, Parachute mitral valve, Short philtrum, Highly arched eyebrow, Scoliosis, Patent f...	OMIM:618316
Autosomal Recessive Robinow Syndrome	Disproportionate short-limb short stature, Pectus carinatum, Pectus excavatum, Kyphosis, Death in...	ORPHA:1507
Acrocardiofacial Syndrome	Truncus arteriosus, Anal atresia, Long eyelashes, Death in infancy, Cleft upper lip, Coarctation ...	ORPHA:2008
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Cervical C2/C3 vertebral fu...	ORPHA:1780
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Glossoptosis, Left ventricular hypertrophy, Intrauterine growth retardation, Long...	OMIM:611209
Meacham Syndrome	Death in infancy, Bicuspid aortic valve, Transposition of the great arteries, Common atrium, Pate...	OMIM:608978
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Microcolon, Pulmonic stenosis, Intestinal malrotation, Cervical ...	OMIM:600001
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Transposition of the great arteries, Patent foramen ovale, Everted lower lip vermilion, Wide mout...	OMIM:616789
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Pectus excavatum, Low posterior hairline, Sacral dimple, Inguinal hernia, ...	OMIM:213980
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Inguinal hernia, Pulmo...	OMIM:208530
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Death in infan...	OMIM:617478
Klippel-Feil Syndrome 2, Autosomal Recessive	Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Low posterior hairline, Cle...	OMIM:214300
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Atrial septal defect, Partial anomalous pulmonary venous return, Solitary median maxillary centra...	OMIM:619657
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Myelomeningocele, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly...	OMIM:306955
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Inguinal hernia, ...	OMIM:601186
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauterine growth retardation, Tran...	ORPHA:3384
Carpenter Syndrome 1	Sacral dimple, Transposition of the great arteries, Spina bifida occulta, Scoliosis, High palate,...	OMIM:201000
Autosomal Recessive Multiple Pterygium Syndrome	Orofacial cleft, Abnormal aortic valve morphology, Spina bifida occulta, Aortic aneurysm, Inguina...	ORPHA:2990
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypopl...	ORPHA:1686
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Scoliosis, High palate, Short stature, Dextrotransposition of the great arteries, ...	OMIM:619995
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Pectus carinatum, High palate, Pectus excavatum, Proportion...	OMIM:609654
Adams-Oliver Syndrome 6	Esophageal varix, Truncus arteriosus, Ventricular septal defect	OMIM:616589
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormal vertebral morphology, Abnormal aortic valve morphology,...	ORPHA:261197
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs, Intestinal lymphangiectasia, Abnormal hair morphology, Edema...	OMIM:152800
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Tyshchenko Syndrome	Narrow palate, High, narrow palate, Polyhydramnios, Thick hair, Narrow chest, High palate, Pectus...	OMIM:615102
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Inguinal hernia, Aortic aneurysm, Highly arched eyebrow, Truncus arteriosus,...	ORPHA:261330
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Nonimmune hydrops fetalis...	OMIM:265380
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Short stature, Abnormal rib morphology	ORPHA:2435
Robinow Syndrome	Kyphoscoliosis, Broad alveolar ridges, Dental crowding, Pulmonic stenosis, Abnormal heart morphol...	ORPHA:97360
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Stillbirth, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmonic ste...	OMIM:615415
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Rhizomelia, Short philtrum, Narrow chest, Abnormal rib morphology, ...	ORPHA:93267
Multiple Pterygium Syndrome, Escobar Variant	Congenital diaphragmatic hernia, Kyphosis, Umbilical hernia, Long philtrum, Long clavicles, Hydro...	OMIM:265000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Cervical ribs, Congenital diaphragmatic hernia, Transposition of t...	ORPHA:2255
Sonoda Syndrome	Short stature, Ventricular septal defect, Narrow mouth	OMIM:270460
Arthrogryposis, Distal, Type 1C	Thin vermilion border, Shoulder flexion contracture, Scoliosis, Elbow flexion contracture, High p...	OMIM:619110
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the dentition, Abnormal...	ORPHA:276422
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Sacral dimple, Ventricular septal defect, Patent ductus arteriosus	OMIM:617516
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for...	OMIM:620570
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Sacral dimple, Thick lower lip vermilion, Short philtrum, Scoliosis, Low anterior hairline, Atria...	OMIM:608227
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
14Q11.2 Microdeletion Syndrome	Highly arched eyebrow, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow ...	ORPHA:261120
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	High palate, Pulmonic stenosis, Frontal hirsutism, Tetralogy of Fallot, Patent ductus arteriosus,...	ORPHA:3304
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Ventral her...	OMIM:313850
Noonan Syndrome 12	Polyhydramnios, 11 pairs of ribs, Pectus excavatum, Spinal canal stenosis, Tetralogy of Fallot, V...	OMIM:618624
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Long philtrum, Perimembranous ventricular septal defect, Atrioventricular canal defect, Fused cer...	ORPHA:508498
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Everted lower lip vermilion, Pectus excavatum, Wide mouth, Sparse hair, Um...	OMIM:280000
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
Restrictive Dermopathy	Sparse or absent eyelashes, Thoracic kyphoscoliosis, Aplasia/Hypoplastia of the eccrine sweat gla...	ORPHA:1662
Weiss-Kruszka Syndrome	Highly arched eyebrow, Exaggerated cupid's bow, Dextrotransposition of the great arteries, Broad ...	OMIM:618619
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Abnormal lower lip morphology, Vertebral segmentation defect, Ab...	ORPHA:1166
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Anal atresia, Missing ribs, Blo...	OMIM:271520
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Highly arched eyebrow, Ky...	ORPHA:280
Gorlin Syndrome	Orofacial cleft, Abnormal vertebral morphology, Odontogenic keratocysts of the jaw, Vertebral wed...	ORPHA:377
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr...	OMIM:270100
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, He...	OMIM:618223
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Narrow chest, Abnormal form of the vertebral bodies, Sco...	ORPHA:2635
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Inguinal hernia, Highly arched eyebrow, Pectus carinatum, Scoliosi...	OMIM:620568
Zttk Syndrome	Kyphosis, Bifid uvula, Cervical ribs, Intrauterine growth retardation, Short philtrum, Scoliosis,...	OMIM:617140
Holt-Oram Syndrome	Abnormal clavicle morphology, Atrioventricular canal defect, Scoliosis, Abnormal aortic morpholog...	ORPHA:392
Femoral-Facial Syndrome	Pulmonic stenosis, Absent vertebra, Long philtrum, Encephalocele, Inguinal hernia, Scoliosis, Hem...	OMIM:134780
Microphthalmia, Syndromic 3	Postnatal growth retardation, Butterfly vertebrae, Esophageal atresia, Hemivertebrae, Vertebral h...	OMIM:206900
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal r...	ORPHA:2790
Mesoaxial Hexadactyly And Cardiac Malformation	Everted lower lip vermilion, Pulmonic stenosis, Short stature, Patent ductus arteriosus, Atrial s...	OMIM:249670
Intellectual Developmental Disorder, Autosomal Recessive 73	Widely spaced teeth, Scoliosis, Thick upper lip vermilion, Patent ductus arteriosus, Ventricular ...	OMIM:619717
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ...	OMIM:615779
Meacham Syndrome	Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Ven...	ORPHA:3097
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma...	ORPHA:244
Aortic Arch Interruption	Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona...	ORPHA:2299
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Dilation of Virchow-Robin spaces, Polyhydramnios, Inguinal hernia, Absent eyelashe...	ORPHA:544488
Chime Syndrome	Pulmonary valve atresia, Supernumerary tooth, Transposition of the great arteries, Short philtrum...	ORPHA:3474
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hydrops fetalis, Inguinal hernia, Abnormal heart valve morphology, S...	OMIM:230500
Prune Belly Syndrome	Intestinal atresia, Scoliosis, Vertebral segmentation defect, Pectus excavatum, Anal atresia, Abn...	ORPHA:2970
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien...	ORPHA:1330
Absence Of The Pulmonary Artery	Pulmonary edema, Pedal edema, Patent foramen ovale, Truncus arteriosus, Abnormal inferior vena ca...	ORPHA:980
Achondrogenesis Type 1B	Disproportionate short stature, Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Abno...	ORPHA:93298
Neu-Laxova Syndrome 1	Swollen lip, Intrauterine growth retardation, Transposition of the great arteries, Small placenta...	OMIM:256520
Multiple Pterygium Syndrome, X-Linked	Hypoplastic heart, Polyhydramnios, Thin ribs, Cleft upper lip, Cleft palate, Abnormal cervical cu...	OMIM:312150
Trisomy 13	High, narrow palate, Hydrops fetalis, Narrow chest, Hernia, Scoliosis, Abnormal eyelash morpholog...	ORPHA:3378
White Forelock With Malformations	Abnormal palate morphology, Spina bifida occulta, Abnormal rib morphology, White forelock, Spreng...	ORPHA:2475
Cog1-Cdg	Kyphoscoliosis, Butterfly vertebrae, Postnatal growth retardation, Rhizomelia, Vertebral segmenta...	ORPHA:263508
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal aortic valve morphology,...	ORPHA:1120
Lethal Congenital Contracture Syndrome 10	Narrow palate, Long philtrum, Hydrops fetalis, Narrow chest, High palate, Thoracic scoliosis, Omp...	OMIM:617022
Vater/Vacterl Association	Postnatal growth retardation, Occipital encephalocele, Transposition of the great arteries, Abnor...	OMIM:192350
Robinow Syndrome, Autosomal Recessive 1	Hypoplastic sacrum, Dental crowding, Pectus excavatum, Tooth agenesis, Abnormal heart morphology,...	OMIM:268310
Global Developmental Delay With Or Without Impaired Intellectual Development	Oligodontia, Pectus excavatum, Short stature, Patent ductus arteriosus, Atrial septal defect, Ven...	OMIM:618330
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Pallister-Hall Syndrome	Hemivertebrae, Anal atresia, Rib fusion, Preductal coarctation of the aorta, Cleft upper lip, Sho...	OMIM:146510
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Short stature, Intrauterine growth retardation, Dilated cardiomyopathy, Vent...	ORPHA:2515
Mosaic Trisomy 14	Narrow chest, Ectopic anus, High palate, Abnormal rib morphology, Camptodactyly of finger, Cleft ...	ORPHA:1703
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormal form of the vertebral bodies, Broad clavicles, Hirsutism, Omphalocele, Coarctation of ao...	ORPHA:371428
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Butterfly vertebrae, Polyhydramnios, Hypodontia, Hirsutism, Pulmonary artery atresia, Arthrogrypo...	OMIM:301056
Hadziselimovic Syndrome	Thick lower lip vermilion, Ventricular hypertrophy, Pulmonary artery atresia, High palate, Anal a...	OMIM:612946
Aicardi Syndrome	Delayed puberty, Butterfly vertebrae, Intestinal polyposis, Short philtrum, Scoliosis, Missing ri...	ORPHA:50
8Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Pectus excavatum, Abnormal heart morphology, Cervical ribs, Long philtrum,...	ORPHA:508488
Achondrogenesis, Type Ii	Stillbirth, Hydrops fetalis, Polyhydramnios, Barrel-shaped chest, Disproportionate short-limb sho...	OMIM:200610
Coenzyme Q10 Deficiency, Primary, 7	Scoliosis, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Intrauterine growth retardation...	OMIM:616276
Achondrogenesis, Type Ib	Neonatal short-limb short stature, Absent or minimally ossified vertebral bodies, Stillbirth, Pol...	OMIM:600972
German Syndrome	Orofacial cleft, Lymphedema, High palate, Everted lower lip vermilion, Synophrys, Short stature, ...	ORPHA:2077
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Long philtrum, Aortic aneurysm, Patent foramen ovale, Persistent left superior vena cava, Abnorma...	ORPHA:477817
8P23.1 Duplication Syndrome	Highly arched eyebrow, Pulmonic stenosis, Tetralogy of Fallot, Thick vermilion border, Long philt...	ORPHA:251076
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Chromosome 15Q14 Deletion Syndrome	Short philtrum, Highly arched eyebrow, Everted lower lip vermilion, Cleft lip, Cleft palate, Tent...	OMIM:616898
Kbg Syndrome	Widely-spaced maxillary central incisors, Oligodontia, Thoracic kyphosis, Low posterior hairline,...	OMIM:148050
Thoracic Outlet Syndrome	Edema, Varicose veins, Abnormal rib morphology	ORPHA:97330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Spinal rigidity, Transposition of the great arteries, Encephalocele, Scolio...	OMIM:253800
Craniofaciofrontodigital Syndrome	Pectus carinatum, Aortic valve stenosis, Lower eyelid edema, Abnormal cerebral vascular morpholog...	ORPHA:363705
Cardiofaciocutaneous Syndrome 3	Scoliosis, Pectus excavatum, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Short st...	OMIM:615279
Kyphomelic Dysplasia	Lateral clavicle hook, Narrow chest, Abnormal form of the vertebral bodies, Short thorax, Undulat...	ORPHA:1801
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect, Glossoptosis, Death in infancy	OMIM:614876
Adams-Oliver Syndrome 4	Umbilical hernia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:615297
Fetal Minoxidil Syndrome	Ventricular septal defect, Generalized hirsutism, Umbilical hernia	ORPHA:1918
Mucopolysaccharidosis Type 4	Grayish enamel, Short thorax, Abnormal heart valve morphology, Scoliosis, Hyperlordosis, Abnormal...	ORPHA:582
22Q11.2 Deletion Syndrome	Abnormal aortic arch morphology, Intestinal malrotation, Umbilical hernia, Long philtrum, Intraut...	ORPHA:567
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hydrops fetalis, Polyhydramnios, Cardiomegaly, Short ribs, Pleural effusion, Intrauterine growth ...	OMIM:616897
Multiple Pterygium Syndrome, Lethal Type	Hypoplastic heart, Polyhydramnios, Thin ribs, Cleft palate, Abnormal cervical curvature, Flexion ...	OMIM:253290
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Pectus carinatum, Aortic valve stenosis, Umbilical hernia, Bicuspid aortic valve, Intrauterine gr...	OMIM:618164
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Myelo...	ORPHA:66637
Schneckenbecken Dysplasia	Lateral clavicle hook, Stillbirth, Polyhydramnios, Narrow chest, Disproportionate short-limb shor...	OMIM:269250
Holoprosencephaly 13, X-Linked	Butterfly vertebrae, Solitary median maxillary central incisor, Duodenal atresia, Patent foramen ...	OMIM:301043
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Highly arched eyebrow, Pectus excavatum, Microdontia, Bifid uvula, Bicuspid aortic valve, Long ph...	OMIM:612474
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Long philtrum, Widely spaced teeth, Spatulate ribs, Broad clavicles,...	OMIM:619698
Aicardi Syndrome	Postnatal growth retardation, Butterfly vertebrae, Lipoma, Scoliosis, Hemivertebrae, Missing ribs...	OMIM:304050
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Large placenta, Polyhydramnios, Omphalocele, Coat hanger sign of ri...	ORPHA:254534
Frank-Ter Haar Syndrome	Kyphoscoliosis, Dental malocclusion, Broad alveolar ridges, Patent foramen ovale, Gingival overgr...	OMIM:249420
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Death in infancy, Short stature, Horizontal ribs	OMIM:617405
3C Syndrome	Kyphosis, Death in infancy, Pulmonic stenosis, Abnormal mitral valve morphology, Aortic valve ste...	ORPHA:7
Kbg Syndrome	Widely-spaced maxillary central incisors, Scoliosis, Thoracic kyphosis, Oligodontia, Synophrys, S...	ORPHA:2332
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Meckel diverticulum, Pectus carinatum, Short ribs, Cardiomyopath...	OMIM:312870
Phaver Syndrome	Butterfly vertebrae, Hypoplastic aortic arch, Abnormal form of the vertebral bodies, Pulmonary ar...	ORPHA:2876
Fibrochondrogenesis 1	Short ribs, Thoracic hypoplasia, Long philtrum, Long clavicles, Hydrops fetalis, Rhizomelia, Pate...	OMIM:228520
Heterotaxy, Visceral, 8, Autosomal	Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro...	OMIM:617205
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Hypoplastic left atrium, Intestinal malrotation, Cleft palate, N...	OMIM:615524
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect, Death in childhood	OMIM:253300
Cantú Syndrome	Long philtrum, Cardiomegaly, Curly eyelashes, Narrow chest, Abnormal heart valve morphology, Hype...	ORPHA:1517
Feingold Syndrome 2	Postnatal growth retardation, Intestinal atresia, Ventricular septal defect, Short stature	OMIM:614326
Yuan-Harel-Lupski Syndrome	Long philtrum, Aortic root aneurysm, High palate, Smooth philtrum, Bicuspid aortic valve, Ventric...	OMIM:616652
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Disproportionate short-limb short stature, Abnormal rib morphology, Intrauterine growth retardati...	ORPHA:2772
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Growth delay, Cleft upper lip, Bifid uvula, Tetralogy of Fallot, Cleft p...	OMIM:612561
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Hydrops fetalis, Lymphedema, Omphalocele, Vascular ring, Patent ductus arteriosus, Overriding aor...	OMIM:601927
Noonan Syndrome 8	Polyhydramnios, Abnormal sternum morphology, Pleural effusion, Hypertrophic cardiomyopathy, Curly...	OMIM:615355
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Hyperlordosis, Internally rotated shoulders, Agenesis of permanent teeth, Wide m...	OMIM:619503
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar...	OMIM:613759
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Scoliosis, Missing ribs, Abnormal rib morphology, Short stature,...	ORPHA:1488
Diamond-Blackfan Anemia 7	Polyhydramnios, Scoliosis, Esophagitis, Growth delay, Sprengel anomaly, Secundum atrial septal de...	OMIM:612562
Feingold Syndrome Type 2	Short stature, Ventricular septal defect, Jejunal atresia	ORPHA:391646
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Wide mouth, Cervical subluxation,...	OMIM:253000
Renpenning Syndrome	High, narrow palate, Short philtrum, Narrow mouth, Pectus excavatum, Anal atresia, Abnormal rib m...	ORPHA:3242
Lethal Kniest-Like Dysplasia	Polyhydramnios, Narrow chest, Mesomelic/rhizomelic limb shortening, Short ribs, Severe short-limb...	ORPHA:2347
Desbuquois Syndrome	Bell-shaped thorax, Disproportionate short-limb short stature, Abnormal eyelash morphology, Scoli...	ORPHA:1425
Filippi Syndrome	Postnatal growth retardation, Thin vermilion border, Short philtrum, Serrated incisors, Microdont...	OMIM:272440
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Anomalous origin of left coronary artery from the pulmonary artery, Right aortic...	ORPHA:2326
Achondrogenesis Type 1A	Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Femoral hernia, Severe short stature...	ORPHA:93299
Isolated Dandy-Walker Malformation	Cleft palate, Tetralogy of Fallot, Encephalocele	ORPHA:217
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology, Coarctation of a...	ORPHA:280195
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Sacral dimple, Incisor macrodontia, Narrow mouth, Long eyelashes, Short st...	OMIM:615502
Li-Campeau Syndrome	Patent foramen ovale, Short stature, Thick eyebrow, Patent ductus arteriosus, Long philtrum, Atri...	OMIM:619189
Insulin-Like Growth Factor I, Resistance To	Highly arched eyebrow, Reduced subcutaneous adipose tissue, Patent foramen ovale, High palate, Sp...	OMIM:270450
Recombinant 8 Syndrome	Abnormal hair morphology, Abnormal sternum morphology, Scoliosis, Gingival overgrowth, Abnormalit...	ORPHA:96167
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Highly arched eyebrow, Kyphosis, Low posterior hairline, M...	OMIM:194190
Metatropic Dysplasia	Kyphoscoliosis, Caudal appendage, Relatively short spine, Narrow chest, Disproportionate short-li...	OMIM:156530
Maternal Phenylketonuria	Long philtrum, Esophageal atresia, High palate, Coarctation of aorta, Abnormal heart morphology, ...	ORPHA:2209
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Glossoptosis, Thoracic hypoplasia, Long philtrum, 10 pairs ...	OMIM:117650
Mmep Syndrome	Orofacial cleft, Ventricular septal defect, Median cleft upper lip	ORPHA:3434
Kagami-Ogata Syndrome	Kyphoscoliosis, Long clavicles, Polyhydramnios, Bell-shaped thorax, Inguinal hernia, Thin ribs, O...	OMIM:608149
Osteogenesis Imperfecta, Type Ix	Disproportionate short-limb short stature, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosi...	OMIM:259440
Microgastria-Limb Reduction Defect Syndrome	Esophageal atresia, Rectovaginal fistula, Microgastria, Perineal fistula, Truncus arteriosus, Eso...	ORPHA:2538
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Thin vermilion border, Death in childhood, Hypertrophic cardiomyopathy, Protruding tongue, Umbili...	OMIM:612938
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Inguinal hernia, Highly arched eyebrow, Scoliosis, Patent foramen ovale, Pectus excavatum, Synoph...	ORPHA:329224
X-Linked Intellectual Disability, Nascimento Type	Thin vermilion border, Nail dystrophy, Abnormal vena cava morphology, Patent foramen ovale, Lumba...	ORPHA:163956
Short-Rib Thoracic Dysplasia 12	Anencephaly, Short ribs, Ascites, Intestinal malrotation, Intrauterine growth retardation, Edema,...	OMIM:269860
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short philtrum, Inguinal hernia, Scoliosis, Abnormality of the dentition, Kyphosis, Short stature...	ORPHA:261190
3M Syndrome	Increased vertebral height, Delayed eruption of teeth, Short thorax, Abnormal dental enamel morph...	ORPHA:2616
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A...	OMIM:618719
Cranioacrofacial Syndrome	Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect	OMIM:122850
Indomethacin Embryofetopathy	Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:1909
Trisomy 1Q	Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios, Short thorax, Narrow mouth, Ana...	ORPHA:261344
Carpenter Syndrome 2	Highly arched eyebrow, Pectus carinatum, Pectus excavatum, Umbilical hernia, Long philtrum, Narro...	OMIM:614976
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Growth delay, Abnormality of the hairline, Patent ductus arteriosus, Double outlet...	OMIM:614886
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Butterfly vertebrae, Scoliosis, Hyperlordosis, Patent foramen ovale, Pectus excavatum, Scapular w...	OMIM:618870
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Muscular ventricular septal defect, Fused cervical vertebrae, Hy...	OMIM:157800
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Fused cervical vertebrae, Hyperlordosis, Pectus excavatum, Kyphosis...	ORPHA:2522
Oculoauriculofrontonasal Syndrome	Encephalocele, Scoliosis, Narrow mouth, Cleft palate, Broad philtrum, Pericallosal lipoma, Cleft ...	ORPHA:398156
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Polyhydramnios, Narrow chest, Inguinal hernia, Pancreatic lymphangiec...	OMIM:235255
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Intrauterine growth retardation, Abnormal palate morphology, Abnormal rib morphology	ORPHA:1506
Braddock-Carey Syndrome 1	Hyperlordosis, Everted lower lip vermilion, Camptodactyly, Curly hair, Growth delay, Enamel hypop...	OMIM:619980
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Short philtrum, Highly arched eyebrow, Ectopic anus, Downturned corners of mouth, Cleft palate, V...	ORPHA:94066
Craniodiaphyseal Dysplasia	Short stature, Abnormal rib morphology	ORPHA:1513
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Orofacial cleft, Anencephaly, Encephalocele, Non-midline cleft o...	ORPHA:1335
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Scoliosis, Anterior encephalocele, Omphalocele, Cleft uppe...	OMIM:601357
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R...	OMIM:184400
Coffin-Siris Syndrome 7	Thick lower lip vermilion, Polyhydramnios, Short philtrum, Patent foramen ovale, Sparse scalp hai...	OMIM:618027
Lymphedema-Distichiasis Syndrome	Yellow nails, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Kyphosis, Distichiasi...	OMIM:153400
Intellectual Developmental Disorder, Autosomal Dominant 47	Scoliosis, Increased nuchal translucency, Widely-spaced incisors, Wide mouth, Thin eyebrow, Intra...	OMIM:617635
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pierre-Robin ...	OMIM:602196
1P36 Deletion Syndrome	Abnormal intestine morphology, Kyphosis, Abnormal eyebrow morphology, Abnormality of the anus, Lo...	ORPHA:1606
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Abnormality of the hairline, Abnormality of the anus, Long philtrum, Bicuspid aortic...	OMIM:607872
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal palate morphology, Abnormal hair morphology, Slow-growing hair, Pectus carinatum, Uncomb...	ORPHA:3082
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Enamel hypoplasia, Downturned corners of mouth, Severe short stature, In...	ORPHA:2643
Galloway-Mowat Syndrome 7	Kyphoscoliosis, High palate, Pectus excavatum, Cleft lip, Short stature, Cleft palate, Smooth phi...	OMIM:618348
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Sacral dimple, Highly arched eyebrow, Scoliosis, High palate, Intrauterine growth retardation, Lo...	OMIM:617452
Juberg-Hayward Syndrome	Orofacial cleft, Abnormal vertebral morphology, Highly arched eyebrow, Scoliosis, Abnormal rib mo...	ORPHA:2319
Diastrophic Dysplasia	Abnormal clavicle morphology, Neonatal short-limb short stature, Abnormal form of the vertebral b...	ORPHA:628
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Narrow chest, Scoliosis, Short ribs, Deformed rib cage, Cupp...	ORPHA:168549
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Ventri...	ORPHA:2476
Grant Syndrome	Abnormal palate morphology, Narrow chest, Open bite, Abnormal rib morphology, Short stature, Spre...	ORPHA:2097
Noonan Syndrome 10	Patent ductus arteriosus, Pleural effusion, Pectus carinatum, Scoliosis, High palate, Pectus exca...	OMIM:616564
Lateral Meningocele Syndrome	Dental crowding, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Umbilical hernia, Long p...	OMIM:130720
Xk Aprosencephaly Syndrome	Polyhydramnios, Narrow mouth, Anal atresia, Atrial septal defect, Ventricular septal defect	ORPHA:3469
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal rib morphology, Tracheoesophageal fistula, Intest...	ORPHA:93941
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Medial flaring of the eyebrow, Aortic roo...	OMIM:617602
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Spondylo-Ocular Syndrome	Long philtrum, Thin vermilion border, Abnormal intervertebral disk morphology, Thoracic kyphosis,...	ORPHA:85194
Roifman Syndrome	Postnatal growth retardation, Biconvex vertebral bodies, Noncompaction cardiomyopathy, Ventricula...	OMIM:616651
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot...	OMIM:614980
Lambert Syndrome	Inguinal hernia, Branchial anomaly, Wide mouth, Intrauterine growth retardation, Ventricular sept...	ORPHA:1296
Down Syndrome	Atrioventricular canal defect, Partial anomalous pulmonary venous return, Aganglionic megacolon, ...	OMIM:190685
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Low posterior hairline, Short stature, Sh...	ORPHA:2578
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Widely spaced teeth, Short philtrum, Scoliosis, Vertebral segmen...	OMIM:612530
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Polyhydramnios, Abnormal form of the vertebral bodies, Abnormality of the philtrum, Hemivertebrae...	ORPHA:2759
Achondrogenesis, Type Ia	Stillbirth, Hypoplastic sacrum, Hydrops fetalis, Polyhydramnios, Bell-shaped thorax, Unossified v...	OMIM:200600
King-Denborough Syndrome	Kyphoscoliosis, Scoliosis, Thoracic kyphosis, High palate, Short stature, Short neck, Ventricular...	OMIM:619542
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Patent ductus arteriosus, Atria...	ORPHA:2519
Joubert Syndrome 18	Kyphoscoliosis, Occipital encephalocele, Camptodactyly, Cleft palate, Lobulated tongue, Intrauter...	OMIM:614815
Noonan Syndrome 4	High anterior hairline, Pectus excavatum of inferior sternum, Polyhydramnios, Dental malocclusion...	OMIM:610733
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Scoliosis, High palate, Pectus excavatum, Short stature, Cleft palate, Patent ductus arteriosus, ...	ORPHA:52055
Chromosome 5Q12 Deletion Syndrome	Postnatal growth retardation, Sacral dimple, Short philtrum, Patent foramen ovale, Increased nuch...	OMIM:615668
Fibrochondrogenesis	Bell-shaped thorax, Narrow chest, Abnormal form of the vertebral bodies, Short ribs, Narrow mouth...	ORPHA:2021
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Frontal upsweep of hair, Short philtrum, Dental crowding, Scoliosis, Hirsutism, Oligodontia, High...	OMIM:617061
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Beaking of vertebral bodies, Coarse hair, Hirsutism, Everted lower lip vermilion,...	OMIM:252930
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Butterfly vertebrae, Orofacial cleft, Congenital diaphragmatic hern...	ORPHA:958
Three M Syndrome 2	Delayed eruption of teeth, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, High palate,...	OMIM:612921
Vacterl/Vater Association	Congenital diaphragmatic hernia, Occipital encephalocele, Polyhydramnios, Abnormal intervertebral...	ORPHA:887
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Postnatal growth retardation, Broad secondary alveolar ridge, Inguinal hernia, High palate, Short...	ORPHA:3369
Viss Syndrome	Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Pectus carinatum, Tortuous...	OMIM:619472
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Polyhydramnios, Bell-shaped thorax, Narrow chest, Thoracic dysplasia, Hori...	OMIM:615633
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Meckel diverticulum, Abnormal sternum morphology, Aplasia of the...	ORPHA:2847
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Cervical spinal canal stenosis, Spondylolisthesis, Barrel-shaped chest, Inguinal hernia, Pectus c...	OMIM:178110
Melnick-Needles Syndrome	Narrow chest, Delayed eruption of teeth, Tooth malposition, Short thorax, Scoliosis, Short clavic...	ORPHA:2484
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Broad lateral eyebrow, Abnormal heart morphology, Bifid uvula, Cervical ribs, Int...	ORPHA:500150
Digeorge Syndrome	Right aortic arch with mirror image branching, High, narrow palate, Intervertebral disk degenerat...	OMIM:188400
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Short philtrum, Aortic root aneurysm, Pectus carinatum, Scoliosis, Pectus excavatum, Camptodactyl...	OMIM:301039
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ...	OMIM:607941
Campomelia, Cumming Type	Hydrops fetalis, Abnormal intestine morphology, Lymphedema, Abnormally ossified vertebrae, Abnorm...	ORPHA:1318
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Long philtrum, High, narrow palate, Scoliosis, Patent foramen ovale, Increased nuchal translucenc...	OMIM:618494
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Disproportionate short-limb short stature, Inguinal hernia, Pectus carinatum, Scoliosis, Hyperlor...	OMIM:184250
Pontine Tegmental Cap Dysplasia	Scoliosis, Hemivertebrae, Rib fusion	OMIM:614688
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, High anterior hairline, Highly arched eyebrow, Laterall...	OMIM:600987
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Postnatal growth retardation, Medial flaring of the eyebrow, Broad eyebrow, Patent foramen ovale,...	OMIM:620113
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Orofacial cleft, Bell-shaped thorax, Short ribs, Short stature, Thoracic d...	OMIM:615630
Craniosynostosis, Herrmann-Opitz Type	Abnormal rib morphology, Short stature, Cleft palate, Intrauterine growth retardation, Oligohydra...	ORPHA:2145
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pectus excavatum, Nonimmune hydrops fetalis, Umbilical hernia, Narrow palate, Scoliosis, Hirsutis...	OMIM:235510
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Abnormality of the vertebral column, Abnormal rib morphology, Short stature, Cleft upper lip, Spr...	OMIM:601076
Cat-Eye Syndrome	Short stature, Abnormal rib morphology, Anal atresia, Intrauterine growth retardation	ORPHA:195
Thanatophoric Dysplasia, Type Ii	Polyhydramnios, Narrow chest, Wide-cupped costochondral junctions, Short ribs, Small abnormally f...	OMIM:187601
Brachytelephalangic Chondrodysplasia Punctata	Postnatal growth retardation, Butterfly vertebrae, Cervical spinal canal stenosis, Abnormality of...	ORPHA:79345
Chromosome 6Pter-P24 Deletion Syndrome	Frontal upsweep of hair, Dental crowding, Patent foramen ovale, High palate, Narrow mouth, Anal a...	OMIM:612582
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Scoliosis, Hirsutism, Synophrys, Asymmetric septal hypertrophy, Ovoid thoracolum...	OMIM:252900
Lymphatic Malformation 6	Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Chylothorax, Genital edema, Scoliosis,...	OMIM:616843
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Scoliosis, Low posterior hairline, Abnormal rib morphology, Spre...	OMIM:118100
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology, Cleft palate, Intrauterine growth retarda...	ORPHA:2167
Cerebrocostomandibular Syndrome	Bell-shaped thorax, Meningocele, Short hard palate, Hydranencephaly, Glossoptosis, Posterior rib ...	ORPHA:1393
Hydrocephaly-Low Insertion Umbilicus Syndrome	Hernia of the abdominal wall, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary ...	ORPHA:2184
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Short stature, Spa...	ORPHA:2234
Transaldolase Deficiency	Thin vermilion border, Short philtrum, Patent foramen ovale, Synophrys, Coarctation of aorta, Wid...	OMIM:606003
Trigonocephaly With Short Stature And Developmental Delay	Inguinal hernia, Broad alveolar ridges, High palate, Short stature, Ventricular septal defect	OMIM:314320
Distal Deletion 15Q	Postnatal growth retardation, Congenital diaphragmatic hernia, Abnormal aortic arch morphology, S...	ORPHA:1596
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Dextrocardia, Inguinal hernia, Coronary a...	OMIM:614294
Mucopolysaccharidosis, Type Ivb	Grayish enamel, Widely spaced teeth, Cervical myelopathy, Inguinal hernia, Scoliosis, Hyperlordos...	OMIM:253010
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Omphalocele, Thoracic hypoplasia, Horizontal rib...	OMIM:617895
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Abnormal aortic morphology,...	ORPHA:3405
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Scoliosis, Hemivertebra...	ORPHA:2180
3P25.3 Microdeletion Syndrome	High, narrow palate, Sacral dimple, Short philtrum, Coronary artery atherosclerosis, Knee flexion...	ORPHA:435638
Contractural Arachnodactyly, Congenital	Kyphoscoliosis, Congenital kyphoscoliosis, Knee flexion contracture, Aortic root aneurysm, Pectus...	OMIM:121050
Loeys-Dietz Syndrome 5	Kyphoscoliosis, Flexion contracture of toe, Spondylolisthesis, Pectus carinatum, Pectus excavatum...	OMIM:615582
Wolcott-Rallison Syndrome	Dehydration, Ascites, Short stature, Growth delay, Double outlet right ventricle, Atrial septal d...	ORPHA:1667
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Distichiasis, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventricular...	OMIM:126320
Mosaic Trisomy 9	Tessier cleft, Hydrops fetalis, Polyhydramnios, Dextrocardia, Abnormal heart valve morphology, Sc...	ORPHA:99776
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Scoliosis, Abnormal intes...	ORPHA:1834
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Neonatal short-limb short stature, Stillbirth, Polyhydramnios, Rhizomelia, Narrow chest, Thin rib...	OMIM:151210
Triploidy	Polyhydramnios, Narrow chest, Meningocele, Non-midline cleft of the upper lip, Narrow mouth, Omph...	ORPHA:3376
Microphthalmia, Syndromic 2	Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve prolapse, Laterally curved ey...	OMIM:300166
Noonan Syndrome 2	Abnormal coronary artery origin, Abnormal sternum morphology, Pectus carinatum, Cardiomyopathy, P...	OMIM:605275
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ...	ORPHA:2919
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Highly arched eyebrow, Ventricular septal defect, High palate, Patent ductus arteriosus, Intraute...	OMIM:618142
Mucopolysaccharidosis, Type Vii	Pectus carinatum, Cardiomyopathy, Pectus excavatum, Kyphosis, Severe short stature, Anterior beak...	OMIM:253220
Burn-Mckeown Syndrome	Thin vermilion border, Short philtrum, Inguinal hernia, Narrow mouth, Short stature, Cleft upper ...	OMIM:608572
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Widely spaced teeth, Patent foramen ovale, Arthrogryposis-like hand anomaly, High palate, Camptod...	ORPHA:369891
Jeune Syndrome	Abnormal clavicle morphology, Narrow chest, Short thorax, Abnormal sternum morphology, Abnormal r...	ORPHA:474
Hurler Syndrome	Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal heart valve morphology, Sco...	ORPHA:93473
8Q12 Microduplication Syndrome	Highly arched eyebrow, Narrow mouth, Everted lower lip vermilion, Long philtrum, Atrial septal de...	ORPHA:228399
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Nail dystrophy, Brittle hair, Everted lower lip vermilion, Pulmonary artery stenosis, Short statu...	ORPHA:75389
Koolen-De Vries Syndrome	Spondylolisthesis, Everted lower lip vermilion, Kyphosis, Pectus excavatum, Pulmonic stenosis, Bi...	OMIM:610443
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin vermilion border, Highly arched eyebrow, Pectus carinatum, Hemivertebrae, Synophrys, Vertebr...	OMIM:614701
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, 11 pairs of ribs, Brittle hair, Dental crowding, Scoliosis, Patent ...	OMIM:619184
ERI1-related disease	Increased vertebral height, Narrow chest, Inguinal hernia, Pectus carinatum, Scoliosis, High pala...	OMIM:608739
Fliedner-Zweier Syndrome	Long philtrum, Hypoplastic aortic arch, Meningocele, Scoliosis, High palate, Pectus excavatum, Ky...	OMIM:620511
Suleiman-El-Hattab Syndrome	Thick lower lip vermilion, Inguinal hernia, Highly arched eyebrow, Patent foramen ovale, Hirsutis...	OMIM:618950
Alagille Syndrome	Delayed puberty, Spina bifida occulta, Butterfly vertebral arch, Abnormal form of the vertebral b...	ORPHA:52
Skraban-Deardorff Syndrome	Absent cupid's bow, Widely spaced teeth, Right aortic arch, Sparse lateral eyebrow, Thick upper l...	OMIM:617616
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Short stature, Coarctation of aorta, Cleft palate, Ventricular sept...	OMIM:620210
Kury-Isidor Syndrome	Sacral dimple, Widely spaced teeth, Triangular mouth, Scoliosis, High palate, Growth delay, Tente...	OMIM:619762
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Highly arched eyebrow, Low posterior hairline, Microdontia, Intrauterine growth retardation, Shor...	OMIM:617360
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, Pectus carinatum, Pectus excavatum, Low posterior hairline, Pulmonic steno...	OMIM:617506
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Esophageal atresia, 11 pairs of ribs, Hemivertebrae, Tracheoesopha...	ORPHA:77298
Inverted Duplicated Chromosome 15 Syndrome	Short philtrum, High palate, Synophrys, Growth delay, Tetralogy of Fallot, Hernia, Ventricular se...	ORPHA:3306
Intellectual Developmental Disorder, Autosomal Dominant 48	Highly arched eyebrow, Scoliosis, Synophrys, Umbilical hernia, Open mouth, Patent ductus arterios...	OMIM:617751
Methimazole Embryofetopathy	Polyhydramnios, Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Coarct...	ORPHA:1923
Baller-Gerold Syndrome	Thin vermilion border, Abnormal vertebral morphology, Spina bifida occulta, Rectovaginal fistula,...	OMIM:218600
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Scoliosis, Ventricular septal defect, Keloids	ORPHA:357225
17Q12 Microduplication Syndrome	Abnormal vertebral morphology, Polyhydramnios, Tracheoesophageal fistula, Synophrys, Cleft palate...	ORPHA:261272
Mucopolysaccharidosis Type 6	Thick lower lip vermilion, Abnormal heart valve morphology, Kyphosis, Ovoid vertebral bodies, Her...	ORPHA:583
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth,...	OMIM:618506
Lethal Congenital Contracture Syndrome Type 1	Polyhydramnios, Abnormal form of the vertebral bodies, Abnormal rib morphology, Short stature, Sh...	ORPHA:1486
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Lateral Meningocele Syndrome	High, narrow palate, Inguinal hernia, Abnormal form of the vertebral bodies, Meningocele, Dental ...	ORPHA:2789
Cleidocranial Dysplasia	Supernumerary tooth, Dystrophic fingernails, High, narrow palate, Spina bifida occulta, Delayed e...	ORPHA:1452
Li-Ghorbani-Weisz-Hubshman Syndrome	Downturned corners of mouth, Thick vermilion border, Patent ductus arteriosus, Atrial septal defe...	OMIM:618974
Craniodiaphyseal Dysplasia, Autosomal Dominant	Short stature, Thickened ribs, Death in adolescence	OMIM:122860
Vertebral Hypersegmentation And Orofacial Anomalies	Inguinal hernia, Scapular winging, Unilateral cleft palate, Pectus excavatum, Six lumbar vertebra...	OMIM:619122
Pallister-Hall Syndrome	Atrioventricular canal defect, Inguinal hernia, Accessory oral frenulum, Hemivertebrae, Oligohydr...	ORPHA:672
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Non-midline cleft of the upper lip, Vertebral segmentation defec...	ORPHA:1915
Kapur-Toriello Syndrome	Scoliosis, Low posterior hairline, Intestinal malrotation, Cleft upper lip, Camptodactyly of fing...	OMIM:244300
Serkal Syndrome	Congenital diaphragmatic hernia, Orofacial cleft, Pulmonic stenosis, Growth delay, Malrotation of...	ORPHA:139466
Isotretinoin-Like Syndrome	Postnatal growth retardation, Abnormal aortic arch morphology, Inguinal hernia, Abnormal cardiac ...	ORPHA:2306
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrops fetalis, Narrow chest, Encephalocele, Miscarriage, Hirsutism, Narrow mouth, Short ribs, A...	ORPHA:1865
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Non-midline cleft of the upper l...	ORPHA:1908
Congenital Disorder Of Glycosylation, Type Iia	Postnatal growth retardation, Thin vermilion border, Gingival overgrowth, Hirsutism, Thoracolumba...	OMIM:212066
Teebi-Shaltout Syndrome	Caudal appendage, High, narrow palate, Highly arched eyebrow, Slow-growing hair, Oligodontia, Pec...	OMIM:272950
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect, Thin upper lip vermilion, Smooth philtrum	OMIM:620393
Doors Syndrome	Broad alveolar ridges, Long philtrum, Narrow palate, Sirenomelia, Hemivertebrae, Abnormality of t...	ORPHA:79500
Sifrim-Hitz-Weiss Syndrome	Fused cervical vertebrae, Short clavicles, Short stature, Coarctation of aorta, Bifid uvula, Tetr...	OMIM:617159
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Myhre Syndrome	Thin vermilion border, Gingival cleft, Inguinal hernia, Narrow mouth, Abnormal rib morphology, Fe...	ORPHA:2588
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Pectus excavatum, Intestinal malrotation, Bifid uvul...	OMIM:300373
Ritscher-Schinzel Syndrome 2	Postnatal growth retardation, Short philtrum, Scoliosis, High palate, Low posterior hairline, Pul...	OMIM:300963
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Pyloric stenosis, Atrial se...	OMIM:614262
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Inguinal hernia, Growth delay, Coarctation of aorta, Patent ductus arteriosus...	OMIM:614857
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short philtrum, Thin ribs, Death in infancy, Short stature, Wide mouth, Platyspondyly...	ORPHA:163966
Fryns Syndrome	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Intestinal malrotation, Wide mo...	ORPHA:2059
Aase-Smith Syndrome I	Death in infancy, Cleft palate, Flexion contracture, Open mouth, Ventricular septal defect	OMIM:147800
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Scoliosis, Short ribs, Irregular chondrocostal junctions, Irregular vertebral...	OMIM:187760
Congenital Myopathy 22B, Severe Fetal	Spinal rigidity, Dental crowding, Pectus excavatum, Ascites, Nonimmune hydrops fetalis, Thoracic ...	OMIM:620369
Lymphatic Malformation 5	Yellow nails, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Cleft palate,...	OMIM:153200
Jansen-De Vries Syndrome	Central diaphragmatic hernia, Hyperlordosis, Short stature, Wide mouth, Bicuspid aortic valve, Ve...	OMIM:617450
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent foramen ovale, Proportionate short stature, Patent ductus arteriosus, Atrial septal defect...	OMIM:617044
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Scoliosis, Kyphosis, Abnormal oral frenulum morphology, Intestinal malrota...	ORPHA:404440
Warsaw Breakage Syndrome	Postnatal growth retardation, High palate, Tetralogy of Fallot, Wide mouth, Intrauterine growth r...	OMIM:613398
Chromosome 9P Deletion Syndrome	Narrow palate, Thin vermilion border, Perimembranous ventricular septal defect, High, narrow pala...	OMIM:158170
Mucopolysaccharidosis, Type Iiib	Hirsutism, Synophrys, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Cardiomegaly,...	OMIM:252920
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Highly arched eyebrow, Scoliosis, Patent foramen ovale, Umbilical hernia, Abnormal heart morpholo...	ORPHA:500159
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Sacral dimple, Highly arched eyebrow, Scoliosis, High palate, Intrauterine growth retardation, Lo...	ORPHA:505237
Infantile-Onset X-Linked Spinal Muscular Atrophy	Kyphoscoliosis, Ankle flexion contracture, Short ribs, High palate, Cupped ribs, Elbow flexion co...	ORPHA:1145
Tarp Syndrome	Meckel diverticulum, Glossoptosis, High palate, Pectus excavatum, Short sternum, Cleft palate, Te...	OMIM:311900
Weill-Marchesani Syndrome 1	Narrow palate, Tooth malposition, Scoliosis, Proportionate short stature, Pulmonic stenosis, Spin...	OMIM:277600
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Abnormal vertebral morphology, Atrioventricular canal defect, Aganglioni...	ORPHA:210122
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, 11 pairs of ribs, Encephalocele, Hemivertebrae, Anal atresia, Me...	OMIM:264480
Frontometaphyseal Dysplasia 1	Cervical C2/C3 vertebral fusion, Wrist flexion contracture, Mitral valve prolapse, Scoliosis, Hir...	OMIM:305620
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Camptodactyly, Thoracolumbar sc...	OMIM:113000
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thick lower lip vermilion, Gingival overgrowth, High palate, Everted lower lip vermilion, Downtur...	OMIM:220500
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Downturned corners of mouth, Smooth philtrum, Patent ductus arteriosus, Car...	OMIM:618652
Catel-Manzke Syndrome	Pectus carinatum, Glossoptosis, Pectus excavatum, Bifid uvula, Umbilical hernia, Intrauterine gro...	OMIM:616145
Basel-Vanagaite-Smirin-Yosef Syndrome	Short philtrum, Inguinal hernia, Pectus carinatum, Scoliosis, High palate, Everted lower lip verm...	OMIM:616449
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Secundum atrial septal defect, Low anterior hairline, Patent ductus arteriosus, Intraut...	OMIM:619909
Coffin-Siris Syndrome 4	Everted upper lip vermilion, Pulmonic stenosis, Wide mouth, Intrauterine growth retardation, Long...	OMIM:614609
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Thin vermilion border, Nail dystrophy, Lipoatrophy, Progressive clavicul...	OMIM:614008
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Hydrops fetalis, Narrow chest, Pectus carinatum, Short ribs, Horizontal ri...	OMIM:263520
Bardet-Biedl Syndrome 19	Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula...	OMIM:615996
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hydrops fetalis, Short uvula, Narrow chest, Short lingual frenulum, Short ribs, High palate, Asci...	OMIM:614091
Atelis Syndrome 1	Lumbar kyphosis, High palate, Carious teeth, Long philtrum, Atrial septal defect, Ventricular sep...	OMIM:620184
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Ascites, Nonimmune hydrops fetalis, Patent ductus arteriosus, Intrauterine growth retardation, Ov...	OMIM:617021
Lethal Congenital Contracture Syndrome 5	Polyhydramnios, Thin ribs, Death in infancy, Congenital contracture, Flexion contracture, Subdura...	OMIM:615368
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Narrow mouth, Abnormal cardiac septum morphology	ORPHA:83473
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Partial anomalous pulmonary venous return, Broad eyebrow, Coronary artery f...	OMIM:619343
Fadd-Related Immunodeficiency	Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Large placenta, Polyhydramnios, Inguinal hernia, Exaggerated cupid'...	ORPHA:254528
Gm1 Gangliosidosis Type 1	Long philtrum, Beaking of vertebral bodies T12-L3, Hydrops fetalis, Spatulate ribs, Pectus carina...	ORPHA:79255
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Thin ribs, High palate, Pectus excavatum, Kyphosis, Short stature, ...	OMIM:616294
Ellis-Van Creveld Syndrome	Neonatal short-limb short stature, Narrow chest, Delayed eruption of teeth, Disproportionate shor...	OMIM:225500
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Dextrocardia, Everted lower lip vermilion, Synophrys, Downturned corners of ...	OMIM:618067
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Protein-losing enteropathy, Polyhydramnios, Narrow chest, Inguinal ...	ORPHA:1655
Orofaciodigital Syndrome V	Aganglionic megacolon, Scoliosis, High palate, Ankyloglossia, Bifid tongue, Bifid uvula, Tetralog...	OMIM:174300
Costello Syndrome	Narrow palate, Thick lower lip vermilion, Polyhydramnios, Abnormal hair morphology, Abnormal dent...	ORPHA:3071
Mosaic Trisomy 20	Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, Kyphosis, Spina...	ORPHA:1724
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Rhizomelia, Bell-shaped thorax, Narrow chest, Encephalocele, Short ribs, Horizontal r...	OMIM:616300
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Long philtrum, Hypoplastic right heart, Sacral dimple, Triangular mouth, Scoliosis, Pat...	OMIM:616894
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morpholo...	ORPHA:2050
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Bifid uvula, Umbilical hernia, Intrauterine growth retardation, Short phil...	OMIM:601808
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Absent cupid's bow, Ventricular hypertrophy, Celiac disease, Synophrys, Pulmonic stenosis, Coarct...	ORPHA:284169
Charge Syndrome	Delayed puberty, Tracheoesophageal fistula, Pulmonic stenosis, Dysplastic tricuspid valve, Umbili...	OMIM:214800
Cohen Syndrome	Delayed puberty, Pectus excavatum, Kyphosis, Tooth agenesis, Mitral valve prolapse, Intrauterine ...	ORPHA:193
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Thin ribs, Narrow mouth, Short stature, Flexion contracture, Mild short s...	OMIM:614833
Multiple Pterygium-Malignant Hyperthermia Syndrome	Advanced eruption of teeth, Polyhydramnios, Inguinal hernia, Broad alveolar ridges, Scoliosis, Ex...	ORPHA:2215
Greenberg Dysplasia	Disproportionate short-limb short stature, Short ribs, Hypoplastic vertebral bodies, Nonimmune hy...	OMIM:215140
15Q11.2 Microdeletion Syndrome	Abnormal palate morphology, Total anomalous pulmonary venous return, Coarctation of aorta, Abnorm...	ORPHA:261183
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Thin ribs, Thoracic kyphosis, High palate, Prominent sternum, Short stature, Hypo...	OMIM:300232
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	High palate, Pectus excavatum, Short stature, Thoracolumbar scoliosis, Bifid uvula, Patent ductus...	OMIM:300472
Tatton-Brown-Rahman Syndrome	Thin vermilion border, Everted upper lip vermilion, Scoliosis, Exaggerated cupid's bow, Horizonta...	OMIM:615879
Grange Syndrome	Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus	ORPHA:79094
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Polyhydramnios, Dilation of Virchow-Robin spaces, Inguinal hernia, Dental crowding, Scoliosis, Na...	OMIM:300998
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Esophageal atresia, Tracheoesophageal fistula, Death in infancy, G...	OMIM:300514
Bohring-Opitz Syndrome	Broad alveolar ridges, Bilateral cleft palate, Intestinal malrotation, Intrauterine growth retard...	OMIM:605039
Noonan Syndrome 9	Curly hair, Pulmonic stenosis, Short stature, Coarctation of aorta, Sparse eyebrow, Short neck, V...	OMIM:616559
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal palate morphology, Pectus carinatum, Hyperlordosis, Tracheoesophageal fistula, Abnormal ...	ORPHA:3068
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
De Barsy Syndrome	Kyphoscoliosis, Postnatal growth retardation, Hypoplastic aortic arch, Delayed eruption of teeth,...	ORPHA:2962
Pelger-Huet Anomaly	Gingival overgrowth, Abnormality of the dentition, Median cleft palate, Kyphosis, Umbilical herni...	OMIM:169400
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy...	OMIM:108900
Trisomy 18	Narrow palate, Congenital diaphragmatic hernia, Esophageal atresia, Anencephaly, Non-midline clef...	ORPHA:3380
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy	OMIM:616277
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Death in childhood, Growth delay, Cleft upper lip, Coarctation of aorta, Cleft palate, Tetralogy ...	OMIM:600460
Larsen Syndrome	Beaking of vertebral bodies, Spondylolysis, Spina bifida occulta, Aortic aneurysm, Pectus carinat...	OMIM:150250
19P13.12 Microdeletion Syndrome	Thin vermilion border, Hypodontia, Scoliosis, Kyphosis, Synophrys, Arthrogryposis multiplex conge...	ORPHA:254346
Osteogenesis Imperfecta, Type Ii	Bell-shaped thorax, Disproportionate short-limb short stature, Thin ribs, Nonimmune hydrops fetal...	OMIM:166210
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Long thorax, Low posterior hairline, Anal atresi...	OMIM:617925
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Aortic valve atr...	ORPHA:1457
Basal Cell Nevus Syndrome 1	Kyphoscoliosis, Cardiac rhabdomyoma, Odontogenic keratocysts of the jaw, Vertebral wedging, Hamar...	OMIM:109400
Timothy Syndrome	Patent foramen ovale, Microdontia, Tetralogy of Fallot, Patent ductus arteriosus, Cardiomegaly, V...	OMIM:601005
Periventricular Nodular Heterotopia 7	Dental crowding, Narrow mouth, Pierre-Robin sequence, Cleft palate, Contracture of the proximal i...	OMIM:617201
Cat Eye Syndrome	Rectal fistula, Tricuspid atresia, Anal stenosis, Rectal atresia, Meckel diverticulum, Total anom...	OMIM:115470
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Vertebral segmentation defect, Abnormal rib morphology	ORPHA:1836
Holt-Oram Syndrome	Abnormal coronary artery origin, Cervical C2/C3 vertebral fusion, Pectus excavatum, Pulmonic sten...	OMIM:142900
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Short stature, Cleft palate, Nonimmune hydrops fetalis, Arthrogryposis multiplex conge...	OMIM:618265
Garg-Mishra Progeroid Syndrome	Postnatal growth retardation, Narrow chest, Dental crowding, Thin ribs, Short stature, Ovoid vert...	OMIM:620601
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Beaking of vertebral bodies, Disproportionate short stature, Scoliosis, Cupped ribs, Irregular ve...	OMIM:609616
Codas Syndrome	Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo...	ORPHA:1458
Gm1 Gangliosidosis	Long philtrum, Hydrops fetalis, Inguinal hernia, Abnormal form of the vertebral bodies, Scoliosis...	ORPHA:354
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Abnormally ossified...	ORPHA:800
Char Syndrome	Triangular mouth, Short philtrum, Ventricular septal defect, Everted lower lip vermilion, Persist...	ORPHA:46627
Velocardiofacial Syndrome	Right aortic arch with mirror image branching, Inguinal hernia, Interrupted aortic arch, Pulmonar...	OMIM:192430
Giant Cell Arteritis	Glossitis, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect ...	ORPHA:397
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Highly arched eyebrow, Microdontia, Pulmonic stenosis, Long philtrum, Bicuspid aortic valve, Hirs...	OMIM:610759
Congenital Disorder Of Glycosylation, Type Iil	Esophageal varix, Peau d'orange, Death in infancy, Growth delay, Inflammation of the large intest...	OMIM:614576
Kapur-Toriello Syndrome	Orofacial cleft, Intestinal malrotation, Tetralogy of Fallot, Patent ductus arteriosus, Short nec...	ORPHA:2328
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Open mouth	OMIM:616816
Fibrochondrogenesis 2	Bell-shaped thorax, Short ribs, Cupped ribs, Thoracic hypoplasia, Platyspondyly	OMIM:614524
Osteogenesis Imperfecta, Type X	Death in childhood, Rhizomelia, Vertebral compression fracture, Narrow chest, Inguinal hernia, Sc...	OMIM:613848
Cartilage-Hair Hypoplasia	Biconvex vertebral bodies, Disproportionate short-limb short stature, Abnormal form of the verteb...	ORPHA:175
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft of the upper lip, Abnormality of the philtrum, Short stature, Cleft palate, Abn...	ORPHA:1770
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Short stature, Growth delay, Clef...	OMIM:613309
Toriello-Carey Syndrome	Postnatal growth retardation, Abnormal palate morphology, Aganglionic megacolon, Narrow chest, Ca...	ORPHA:3338
Mucopolysaccharidosis, Type Iiid	Broad alveolar ridges, Hypoplastic vertebral bodies, Wide mouth, Thickened ribs, Inguinal hernia,...	OMIM:252940
Hypophosphatasia	Abnormal rib morphology, Abnormality of the dentition, Narrow chest, Short stature	ORPHA:436
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch...	OMIM:617300
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Thin ribs, Scoliosis, Short stature	OMIM:615220
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, 11 pairs of ribs, Thin ribs, Short stature, Platyspondyly, Intrauterine growth retard...	OMIM:300863
Noonan Syndrome 3	Tricuspid valve prolapse, Polyhydramnios, Pectus carinatum, Patent foramen ovale, High palate, Pe...	OMIM:609942
Otopalatodigital Syndrome Type 2	Narrow chest, Encephalocele, Abnormal heart valve morphology, Scoliosis, Oligodontia, Glossoptosi...	ORPHA:90652
Holoprosencephaly 14	Aortic valve atresia, Cleft palate, Double outlet right ventricle, Cleft lip, Ventricular septal ...	OMIM:619895
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Sparse scalp hair, Death in infancy, Sparse eyelashes, Short stature, Sparse ...	OMIM:616901
Myhre Syndrome	Aortic valve stenosis, Sparse hair, Intrauterine growth retardation, Fine hair, Broad ribs, Short...	OMIM:139210
Dysosteosclerosis	Clavicular sclerosis, Disproportionate short stature, Narrow chest, Delayed eruption of teeth, In...	OMIM:224300
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology, Omphalocele, Intestinal malrotation, Intr...	ORPHA:3035
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Branchial anomaly, Scoliosis, Vertebral segmentation defect, Ascen...	ORPHA:453499
Dysosteosclerosis	Delayed eruption of teeth, Abnormal dental enamel morphology, Short stature, Hypoplastic vertebra...	ORPHA:1782
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Arthrogryposis multiplex congenita, Edema, Dilated cardiomyopathy, Ventricular se...	OMIM:607598
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven...	OMIM:212093
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Flexion contracture, Patent ductus arteriosus, Atrial septal defect, Ventr...	OMIM:613870
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Kyphosis, Vascular ring, Thoracic scoliosis, Atrial septal defect, Vent...	OMIM:603387
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Death in childhood, Polyhydramnios, Rectal atresia, Omphal...	OMIM:243150
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Coarse hair, Nail dystrophy, High anterior hairline, Woolly scalp hair, Polyhydramnios, Patent fo...	OMIM:620519
Pseudo-Torch Syndrome 2	Thin ribs, Pleural effusion, Ascites, Secundum atrial septal defect, Cerebral hemorrhage, Patent ...	OMIM:617397
19P13.3 Microduplication Syndrome	Kyphoscoliosis, Short philtrum, Narrow mouth, Growth delay, Cleft palate, Thick vermilion border,...	ORPHA:447980
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Lateral clavicle hook, Polyhydramnios, Narrow chest, Short ribs, Short stature, Thoracic dysplasi...	OMIM:615503
Heart And Brain Malformation Syndrome	High, narrow palate, Thick lower lip vermilion, Polyhydramnios, Interrupted aortic arch, Everted ...	OMIM:616920
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Umbilical hernia, Patent ductus arteriosus, Atrial...	OMIM:619769
Poland Syndrome	Congenital diaphragmatic hernia, Dextrocardia, Spina bifida occulta, Asymmetry of the thorax, Enc...	ORPHA:2911
Ellis Van Creveld Syndrome	Neonatal short-limb short stature, Situs inversus totalis, Thin vermilion border, Atrioventricula...	ORPHA:289
Ogden Syndrome	Postnatal growth retardation, Everted upper lip vermilion, High, narrow palate, Inguinal hernia, ...	ORPHA:276432
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Loss of truncal subcutaneous adipose tissue, Lumbar hemivertebrae, Thin ribs, Hirsutism, High pal...	ORPHA:2463
Congenital Rubella Syndrome	Short stature, Patent ductus arteriosus, Intrauterine growth retardation, Atrial septal defect, V...	ORPHA:290
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Disproportionate short-limb short stature, Abnormal rib morphology	ORPHA:93351
Woods Syndrome	Frontal hirsutism, Thin vermilion border, Ventricular septal defect, Supernumerary nipple	OMIM:615236
Chops Syndrome	High, narrow palate, Cervical C2/C3 vertebral fusion, Thick hair, Patent foramen ovale, Anomalous...	OMIM:616368
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept...	ORPHA:1455
Mosaic Trisomy 16	Atrial septal defect, Large placenta, Meckel diverticulum, Ventricular septal defect, Coarctation...	ORPHA:1708
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Aortic valve stenosis, Pulmonary artery stenosis, Persisten...	OMIM:615067
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect, Neonatal death, Death in infancy	OMIM:613730
C Syndrome	Fused sternal ossification centers, Thick anterior alveolar ridges, Scoliosis, High palate, Ompha...	OMIM:211750
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Kyphosis, Tooth agenesis,...	ORPHA:818
Radio-Tartaglia Syndrome	High anterior hairline, High, narrow palate, Short philtrum, Highly arched eyebrow, Dental crowdi...	OMIM:619312
Polysyndactyly With Cardiac Malformation	Stillbirth, Atrial septal defect, Ventricular septal defect, Polyhydramnios	OMIM:263630
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Orofacial cleft, Thick lower lip vermilion, Polyhydramnios, Elbo...	ORPHA:1692
Shprintzen-Goldberg Craniosynostosis Syndrome	Narrow palate, Lateral clavicle hook, Inguinal hernia, Aortic aneurysm, C1-C2 vertebral abnormali...	OMIM:182212
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Cervical myelopathy, Pectus carinatum, Cardiomyopathy, Umbilical hernia, Broad ri...	OMIM:253200
Beaulieu-Boycott-Innes Syndrome	High anterior hairline, Carious teeth, Velopharyngeal insufficiency, Patent ductus arteriosus, De...	OMIM:613680
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Short philtrum, Dental crowding, Ascending tubular aorta aneurysm, High palate, Pectus excavatum,...	OMIM:309520
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Highly arched eyebrow, Macroglossia, Everted lower lip vermilion, Femoral hernia...	ORPHA:96147
Weill-Marchesani Syndrome 2	Narrow palate, Flexion contracture of toe, Tooth malposition, Scoliosis, Elbow flexion contractur...	OMIM:608328
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Abnormal aortic arch morphology, Miscarriage, Short ribs, Pectus excavatum, Thora...	ORPHA:96334
Fryns Syndrome	Meckel diverticulum, Intestinal malrotation, Wide mouth, Thoracic hypoplasia, Long philtrum, Broa...	OMIM:229850
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hernia, Ventricular septal defect, Smooth philtrum	OMIM:602501
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Atrial septal defect, Ventricular septal defect, Stroke	ORPHA:49827
Hajdu-Cheney Syndrome	Delayed puberty, Pectus carinatum, Kyphosis, Biconcave vertebral bodies, Aortic valve stenosis, I...	ORPHA:955
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Short stature, Cleft palate, Right ventricular hypertrophy, Atrial septal d...	OMIM:614261
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Long philtrum, Inguinal hernia, Aortic root aneurysm, Dental crowding, Pectus carinatum, Ventricu...	OMIM:620654
16P13.11 Microdeletion Syndrome	Exaggerated cupid's bow, Pectus excavatum, Short stature, Cleft upper lip, Camptodactyly of finge...	ORPHA:261236
Weill-Marchesani Syndrome	Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Short stature	ORPHA:3449
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Glossoptosis, Absent nipple, Ankyloglossia, Cleft palate, Ventricula...	OMIM:618021
Myotubular Myopathy With Abnormal Genital Development	Polyhydramnios, Thin ribs, High palate, Death in infancy, Neonatal death	OMIM:300219
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cleft palate, Intrauterine growth ret...	OMIM:611812
Noonan Syndrome 1	Kyphoscoliosis, Superior pectus carinatum, Abnormal sternum morphology, Low posterior hairline, P...	OMIM:163950
Seckel Syndrome 9	Congenital diaphragmatic hernia, Polyhydramnios, Pulmonary artery hypoplasia, Short stature, Intr...	OMIM:616777
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Short ribs, Tooth agenesis, Umbilical hernia, Hernia, Abnormal c...	ORPHA:2092
Aspergillosis	Abnormality of the vertebral column, Stroke, Pleural effusion, Abnormal esophagus morphology, Abn...	ORPHA:1163
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect, Aganglionic megacolon	OMIM:235750
Lambotte Syndrome	Intrauterine growth retardation, Ventricular septal defect, Narrow mouth	OMIM:245552
Filippi Syndrome	Thin vermilion border, Short philtrum, Short stature, Growth delay, Severe short stature, Intraut...	ORPHA:3255
Basel-Vanagaite-Smirin-Yosef Syndrome	Left superior vena cava draining to coronary sinus, High, narrow palate, Short philtrum, Inguinal...	ORPHA:464738
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Atrioventricular canal defect, Aplasia of the epiglottis, Polyhydramnios, Na...	OMIM:617088
Trichohepatoneurodevelopmental Syndrome	Steatorrhea, Dental crowding, Pectus excavatum, Microdontia, Wide mouth, Scoliosis, Woolly hair, ...	OMIM:618268
Trisomy X	Atrial septal defect, Ventricular septal defect, Pectus excavatum	ORPHA:3375
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Highly arched eyebrow, Dental crowding, Omphalocele, Short stature, Natal t...	OMIM:145420
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Stroke, Cardiomyopathy, Short stature, Atrial septal defect, Ventricular ...	OMIM:249270
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Thin ribs, Abnormality of the dentition, Long eyelashes, Biconcav...	OMIM:617952
Craniofacioskeletal Syndrome	Barrel-shaped chest, Short philtrum, Interrupted aortic arch, Short stature, Shield chest, Cleft ...	OMIM:300712
Kleefstra Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Highly arched eyebrow, Scoliosis, Exaggera...	ORPHA:261494
Cranioectodermal Dysplasia 2	Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatum, Sparse hair, Left ventric...	OMIM:613610
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Increased vertebral height, Pectus carinatum, Scoliosis, High palate, Pectus excavatum, Severe in...	OMIM:620663
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Intestinal malrotation, Short stature, Downturned corners of mouth, Cleft palate, Growth delay, P...	ORPHA:457193
Pontocerebellar Hypoplasia, Type 8	Scoliosis, Patent foramen ovale, Synophrys, Long eyelashes, Arthrogryposis multiplex congenita, T...	OMIM:614961
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Omphalocele, Intestinal malrotation, Umbilical hernia, Ventricul...	ORPHA:2143
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Rhizomelia, Abnormality of the vertebral column, Short thorax, Pectu...	ORPHA:239
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Cardiomyopathy, Pectus excavatum, Death in infancy, Wide mouth, ...	ORPHA:373
Radio-Renal Syndrome	High, narrow palate, Abnormal form of the vertebral bodies, Chylothorax, Pleural effusion, Abnorm...	ORPHA:3015
Bent Bone Dysplasia Syndrome 2	Butterfly vertebrae, Thin ribs, Short ribs, Short sternum, Coronal cleft vertebrae, Platyspondyly...	OMIM:620076
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Cleft palate, Intrauterine growth retardation, Atrial se...	OMIM:611134
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal hypertrophy, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted low...	OMIM:608670
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Bicuspid aortic valve, Long philtrum, 11 pairs of ribs, Long upper lip, High pala...	OMIM:271640
Down Syndrome	Delayed puberty, Microdontia, Sparse hair, Umbilical hernia, Narrow palate, Aganglionic megacolon...	ORPHA:870
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Delayed puberty, Breast aplasia, Pectus carinatum, Ectopic anus, Hy...	ORPHA:3138
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Highly arched eyebrow, Ventricular hypertrophy, Kyphosis, Microdontia, Pulmonic s...	OMIM:143095
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As...	ORPHA:3092
Coffin-Siris Syndrome	Abnormal heart morphology, Wide mouth, Broad philtrum, Intrauterine growth retardation, Hernia, S...	ORPHA:1465
Fetal Akinesia Deformation Sequence 1	Wrist flexion contracture, Nonimmune hydrops fetalis, Thoracic hypoplasia, Long philtrum, Intraut...	OMIM:208150
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Tracheoesophageal fistula, Abnormal heart morphology, Umbilical ...	ORPHA:2745
Marshall-Smith Syndrome	Kyphoscoliosis, Short mandibular rami, Highly arched eyebrow, Glossoptosis, Pectus excavatum, Kyp...	OMIM:602535
Atrial Septal Defect 1	Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ...	OMIM:108800
Monosomy 9Q22.3	Orofacial cleft, Abnormality of the vertebral column, Delayed eruption of teeth, Odontogenic kera...	ORPHA:77301
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Scoliosis, Cleft palate, Tetralogy of Fallot, Cervical ribs, Abnormal c...	ORPHA:3320
Meier-Gorlin Syndrome 1	Absent sternal ossification, Pectus carinatum, Short ribs, Microdontia, Death in infancy, Intraut...	OMIM:224690
Congenital Gerbode Defect	Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m...	ORPHA:99095
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Highly arched eyebrow, Low posterior hairline, Malrotation of co...	OMIM:122470
Mosaic Trisomy 8	Narrow chest, Scoliosis, Vertebral segmentation defect, High palate, Abnormal rib morphology, Sho...	ORPHA:96061
Marden-Walker Syndrome	Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Abnormal form of t...	ORPHA:2461
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Scoliosis, Thin ribs, Narrow vertebral interpedicular distance, Short stature, Irregular vertebra...	OMIM:618395
Kawasaki Disease	Myocarditis, Abnormality of nail color, Cheilitis, Glossitis, Vasculitis, Ascending tubular aorta...	ORPHA:2331
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Congenital diaphragmatic hernia, Abnormal rib morphology, Missing...	ORPHA:1647
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios, Anencephaly, Narrow chest, Acce...	OMIM:616546
3Mc Syndrome 1	Postnatal growth retardation, Caudal appendage, Sacral dimple, Spina bifida occulta, Highly arche...	OMIM:257920
Mgat2-Cdg	Hydrops fetalis, Dental crowding, Scoliosis, Hirsutism, Hypoplastic nipples, Pectus excavatum, Ky...	ORPHA:79329
Tetraamelia-Multiple Malformations Syndrome	Orofacial cleft, Polyhydramnios, Narrow mouth, Abnormally ossified vertebrae, Abnormal rib morpho...	ORPHA:3301
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Kaufman Oculocerebrofacial Syndrome	Bell-shaped thorax, High palate, Narrow mouth, Intestinal malrotation, Carious teeth, Coarctation...	OMIM:244450
Nephrotic Syndrome, Type 11	High palate, Cleft palate, Smooth philtrum, Cleft lip, Ventricular septal defect, Dilated cardiom...	OMIM:616730
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Thin clavicles, Thin ribs, Growth delay, Carious teeth, Intrauterin...	ORPHA:93324
Xylt1-Cdg	Short clavicles, Hirsutism, Synophrys, Short stature, Growth delay, Cleft palate, Thick vermilion...	ORPHA:370930
Opitz Gbbb Syndrome	Rectourethral fistula, Solitary median maxillary central incisor, Inguinal hernia, High palate, A...	OMIM:300000
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Short philtrum, Vaginal hernia, Cleft palate, ...	ORPHA:96129
Osteogenesis Imperfecta, Type Iii	Neonatal short-limb short stature, Disproportionate short-limb short stature, Thin ribs, Scoliosi...	OMIM:259420
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Butterfly vertebrae, Narrow palate, Congenital diaphragmatic hernia, Narrow chest...	OMIM:200980
19Q13.11 Microdeletion Syndrome	Thin vermilion border, Solitary median maxillary central incisor, Sparse or absent eyelashes, Spa...	ORPHA:217346
Loeys-Dietz Syndrome 2	Pulmonary artery aneurysm, Arterial tortuosity, Spondylolisthesis, Descending thoracic aorta aneu...	OMIM:610168
Hajdu-Cheney Syndrome	Kyphoscoliosis, Biconcave vertebral bodies, Intestinal malrotation, Umbilical hernia, Long philtr...	OMIM:102500
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Scoliosis, Hirsutism, Narrow vertebral interpedicular distance, Short neck, Ven...	OMIM:620073
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Dystrophic fingernails, Widely spaced teeth, Conical tooth, Delayed eruption of teeth, Abnormal d...	ORPHA:1071
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Ectopic anus, High palate, Anal atresia, Short stature, Cleft palate, Tetr...	ORPHA:2473
Renpenning Syndrome 1	Situs inversus totalis, Death in childhood, Short philtrum, Brittle hair, Scoliosis, High palate,...	OMIM:309500
Limb Body Wall Complex	Congenital diaphragmatic hernia, Anencephaly, Abnormal intestine morphology, Myelomeningocele, Ab...	ORPHA:2369
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Long philtrum, Scoliosis, Patent foramen ovale, High palate, Submucous cleft hard palate, Pyloric...	ORPHA:457279
46,Xx Sex Reversal 5	Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Ventricular septal defect, Hypo...	OMIM:618901
Autosomal Dominant Popliteal Pterygium Syndrome	Non-midline cleft of the upper lip, Scoliosis, Abnormal rib morphology, Cleft palate, Generalized...	ORPHA:1300
Dextrocardia	Situs inversus totalis, Dextrocardia, Meckel diverticulum, Abnormal rib morphology, Intestinal ma...	ORPHA:1666
Long-Olsen-Distelmaier Syndrome	Death in childhood, Secundum atrial septal defect, Nonimmune hydrops fetalis, Cardiomegaly, Dilat...	OMIM:620609
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Postnatal growth retardation, Short philtrum, Dental malocclusion, Dental crowding, High palate, ...	ORPHA:251028
2Q31.1 Microdeletion Syndrome	Thin vermilion border, Inguinal hernia, Abnormal hair morphology, Scoliosis, Vertebral segmentati...	ORPHA:251014
Pagod Syndrome	Abnormal clavicle morphology, Situs inversus totalis, Congenital diaphragmatic hernia, Encephaloc...	ORPHA:991
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Nail dystrophy, Widely spaced teeth, Conical tooth, Absent eyelashes, Selective tooth agenesis, P...	OMIM:106260
Osteogenesis Imperfecta	Intestinal obstruction, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum...	ORPHA:666
Kagami-Ogata Syndrome	Kyphoscoliosis, Postnatal growth retardation, Large placenta, Polyhydramnios, Bell-shaped thorax,...	ORPHA:254519
Hyperparathyroidism, Transient Neonatal	Polyhydramnios, Narrow chest, Inguinal hernia, Thin ribs, Stroke, Short ribs, Fractured rib, Undu...	OMIM:618188
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Thin ribs, Proportionate short stature, Carious teeth, Intrauteri...	OMIM:244460
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Highly arched eyebrow, Everte...	ORPHA:1519
Mucolipidosis Iii Alpha/Beta	Spondylolisthesis, Inguinal hernia, Scoliosis, Short ribs, Cardiomyopathy, Kyphosis, Short statur...	OMIM:252600
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Ventricular septal defect, Short stature, Patent ductus arteriosus	OMIM:218350
Severe Congenital Nemaline Myopathy	Edema of the dorsum of hands, Polyhydramnios, Thin ribs, Flexion contracture, Increased connectiv...	ORPHA:171430
Cenani-Lenz Syndrome	High, narrow palate, Short philtrum, Abnormal form of the vertebral bodies, Abnormal dental ename...	ORPHA:3258
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Polyhydramnios, High palate	ORPHA:456328
Occipital Horn Syndrome	Long philtrum, Narrow chest, Hiatus hernia, Pectus carinatum, Broad clavicles, Short clavicles, H...	OMIM:304150
Hallermann-Streiff Syndrome	Hyperlordosis, Everted lower lip vermilion, Pectus excavatum, Sparse hair, Fine hair, Narrow pala...	OMIM:234100
Campomelic Dysplasia	Kyphoscoliosis, Disproportionate short-limb short stature, Absent sternal ossification, Pectus ca...	OMIM:114290
Jacobsen Syndrome	Abnormal form of the vertebral bodies, Death in infancy, Aortic valve stenosis, Intestinal malrot...	ORPHA:2308
Mandibuloacral Dysplasia Progeroid Syndrome	Postnatal growth retardation, Nail dystrophy, Generalized lipodystrophy, Death in childhood, Shor...	OMIM:619127
Constricting Bands, Congenital	Tessier cleft, Ectopia cordis, Encephalocele, Scoliosis, Omphalocele, Cleft upper lip, Cleft pala...	OMIM:217100
Diaphragmatic Hernia 4, With Cardiovascular Defects	Polyhydramnios, 11 pairs of ribs, Aortic root aneurysm, Aortopulmonary window, Aplasia of the lef...	OMIM:620025
Oculodentodigital Dysplasia	Abnormal clavicle morphology, Brittle hair, Abnormal form of the vertebral bodies, Slow-growing h...	ORPHA:2710
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Gingival overgrowth, Ventricular septal defect, High palate, Dehydr...	ORPHA:96191
Osteogenesis Imperfecta, Type Xvi	Rhizomelia, Narrow chest, Vertebral compression fracture, Tooth agenesis, Short stature, Platyspo...	OMIM:616229
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus	ORPHA:452
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Kyphosis, Camptodactyly, Pulmonic stenosis, Cleft palate, Cleft li...	OMIM:619123
Stuve-Wiedemann Syndrome 1	Thin vermilion border, Contracture of the proximal interphalangeal joint of the 5th finger, Flexi...	OMIM:601559
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Polyhydramnios, Inguinal hernia, Abnormal sternum morphology, High palate, Spa...	OMIM:607721
16Q24.3 Microdeletion Syndrome	Solitary median maxillary central incisor, Highly arched eyebrow, Scoliosis, High palate, Kyphosi...	ORPHA:261250
Rabson-Mendenhall Syndrome	Premature graying of hair, Advanced eruption of teeth, Thick hair, Severe postnatal growth retard...	ORPHA:769
Diamond-Blackfan Anemia 1	Hypoplastic coccygeal vertebrae, 11 pairs of ribs, Spina bifida occulta, Narrow chest, High palat...	OMIM:105650
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Widely spaced teeth, Delayed eruption of teeth, Yellow-brown discolorati...	OMIM:619229
Trichothiodystrophy 4, Nonphotosensitive	Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Abnormality of hair texture, Woolly hair, Spa...	OMIM:234050
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Pericardial effusion, Alopecia totalis, Persistent left superior ven...	OMIM:618775
Joubert Syndrome 14	Short philtrum, Encephalocele, Highly arched eyebrow, Meningocele, Growth delay, Cleft palate, Te...	OMIM:614424
Trichohepatoenteric Syndrome 1	Trichorrhexis nodosa, Large placenta, Polyhydramnios, Brittle hair, Narrow mouth, Woolly hair, Cu...	OMIM:222470
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Narrow mouth, Severe intrauterine growth retardation, Short stature, Growth delay, Co...	OMIM:614114
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Cleft palate	OMIM:243440
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Postnatal growth retardation, Perimembranous ventricular septal defect, Thick low...	OMIM:301040
Cerebellar-Facial-Dental Syndrome	Dental malocclusion, Inguinal hernia, Foot joint contracture, Scoliosis, Ascending tubular aorta ...	ORPHA:444072
Aneurysm-Osteoarthritis Syndrome	Arterial tortuosity, Spondylolisthesis, Pectus carinatum, Pectus excavatum, Arterial dissection, ...	ORPHA:284984
Antley-Bixler Syndrome	Narrow chest, Narrow mouth, Abnormal rib morphology, Camptodactyly of finger, Cleft palate, Long ...	ORPHA:83
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Pectus excavatum, Aortic valve stenosis, Sacral dimple, Short ph...	ORPHA:96121
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Short philtrum, Inguinal hernia, Highly arched eyebrow, Scoliosi...	OMIM:618454
Hereditary Acrokeratotic Poikiloderma	Nail dystrophy, Dystrophic fingernails, Dystrophic toenail, Open bite, Abnormality of the dentiti...	ORPHA:2907
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Scoliosis, Short ribs, Anal atresia, Intestinal malrotation, Cleft upper l...	OMIM:613091
Loeys-Dietz Syndrome 1	Pulmonary artery aneurysm, Spondylolisthesis, Descending thoracic aorta aneurysm, Arterial tortuo...	OMIM:609192
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Patent foramen ovale, Dehydration, Arthrogryposis multiplex congenita, Death in infancy, Right ve...	OMIM:208085
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Broad eyebrow, Scoliosis, Abnormal heart morphology, Intrauterine g...	ORPHA:494344
Double Outlet Left Ventricle	Pulmonary valve atresia, Orofacial cleft, Double outlet left ventricle, Tricuspid atresia, Bicusp...	ORPHA:3427
Charge Syndrome	Delayed puberty, Highly arched eyebrow, Tracheoesophageal fistula, Umbilical hernia, Intrauterine...	ORPHA:138
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, High palate, Median cleft palate	ORPHA:40366
Craniometadiaphyseal Dysplasia	Dental crowding, Scoliosis, High palate, Microdontia, Short stature, Carious teeth, Natal tooth, ...	OMIM:269300
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect...	ORPHA:3282
Ogden Syndrome	Left atrial enlargement, Everted upper lip vermilion, Pectus excavatum, Umbilical hernia, Cardiom...	OMIM:300855
Short Stature-Micrognathia Syndrome	Rhizomelia, High palate, Short stature, Cleft palate, Intrauterine growth retardation, Ventricula...	OMIM:617164
3Q29 Microduplication Syndrome	Ectopic anus, High palate, Abnormality of the dentition, Camptodactyly of toe, Cleft palate, Shor...	ORPHA:251038
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect, Short stature, Alopecia	ORPHA:85202
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Thin vermilion border, Delayed eruption of teeth, Narrow philtrum, Scoliosis, Thin r...	OMIM:601812
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Thrombocytopenia-Absent Radius Syndrome	Cervical ribs, Lateral clavicle hook, Atrioventricular canal defect, Fused cervical vertebrae, Ab...	OMIM:274000
Gracile Bone Dysplasia	Thin ribs, Ascites, Ankyloglossia, Death in infancy, Short stature	OMIM:602361
Sotos Syndrome	Narrow palate, High anterior hairline, Muscular ventricular septal defect, Advanced eruption of t...	OMIM:117550
Fanconi Anemia, Complementation Group I	Fused cervical vertebrae, Patent foramen ovale, Short stature, Intrauterine growth retardation, S...	OMIM:609053
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Inguinal hernia, Hirsutism, Pectus excavatum, Microdontia, Cervical C5/C6 vertebra...	OMIM:613458
Phelan-Mcdermid Syndrome	Palpebral edema, Sacral dimple, Widely spaced teeth, Lymphedema, High palate, Long eyelashes, Thi...	OMIM:606232
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, 11 pairs of ribs, Scoliosis, Hirsutism, Pectus excavatum, Synophrys, Pulmoni...	ORPHA:488632
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Aganglionic megacolon, Scoliosis, Hypoplasia of first ribs, Abno...	OMIM:154400
Lenz-Majewski Hyperostotic Dwarfism	Spina bifida occulta, Inguinal hernia, Knee flexion contracture, Broad clavicles, Hemivertebrae, ...	OMIM:151050
Syndromic Diarrhea	Trichorrhexis nodosa, Villous atrophy, Gastritis, Hypopigmentation of hair, Brittle hair, Inguina...	ORPHA:84064
Esophageal Atresia	Abnormal vertebral morphology, Polyhydramnios, Scoliosis, Barrett esophagus, Esophagitis, Tracheo...	ORPHA:1199
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Dysplastic pulmonary valve, Unilateral cleft palate, Sparse lateral ey...	OMIM:619103
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Delayed puberty, High, narrow palate, Widely spaced teeth, Short philtrum, Dental...	OMIM:300967
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Inguinal hernia, Absent eyelashes, Abnormal vena cava morphology, Absent eyebrow, Short stature, ...	ORPHA:166035
X Small Rings	Long philtrum, Aortic root aneurysm, Low posterior hairline, Growth delay, Mitral stenosis, Bicus...	ORPHA:96201
Van Den Ende-Gupta Syndrome	Lateral clavicle hook, High, narrow palate, Sacral dimple, Camptodactyly of 2nd-5th fingers, Glen...	OMIM:600920
Codas Syndrome	Atrioventricular canal defect, Polyhydramnios, Rectovaginal fistula, Delayed eruption of teeth, S...	OMIM:600373
Schneckenbecken Dysplasia	Lateral clavicle hook, Polyhydramnios, Narrow chest, Abnormal form of the vertebral bodies, Dispr...	ORPHA:3144
Mycophenolate Mofetil Embryopathy	Tessier cleft, Orofacial cleft, Congenital diaphragmatic hernia, Hydrops fetalis, Tracheoesophage...	ORPHA:268249
Rubinstein-Taybi Syndrome 1	Highly arched eyebrow, Dental crowding, Pectus excavatum, Low posterior hairline, Mitral valve pr...	OMIM:180849
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Duodenal ulcer, Kyphosis, Microdontia, Intestinal malrotation, W...	OMIM:135900
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Polyhydramnios, Ventricular septal defect	ORPHA:2256
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Disproportionate short stature, Narrow chest, Rhizomelic arm shortening, Abnormal ri...	ORPHA:93317
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Abnormal aortic valve morphology, Thick hair, Abnormal form of the ...	ORPHA:581
Familial Osteodysplasia, Anderson Type	Tooth malposition, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Abnormal rib morph...	ORPHA:2769
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Sparse hair, Intrauterine growth retardation, Fine hair, Oligohydramnios, Long ...	OMIM:210710
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Vertebral compression fracture, Narrow chest, Hypoplastic pulmonary veins, Scoliosis,...	OMIM:610682
Delpire-Mcneill Syndrome	Ventricular septal defect, Tracheoesophageal fistula	OMIM:619083
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Polyhydramnios, Scoliosis, Birth length less than 3rd percentile, Vent...	ORPHA:464311
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Abnormal heart morph...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Abnormal heart morph...	ORPHA:352665
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Sacral dimple, Esophageal atresia, Spina bifida occulta, Scoliosis, Trac...	OMIM:301030
Autosomal Dominant Centronuclear Myopathy	Pyloric stenosis, Polyhydramnios, Thin ribs, Miscarriage	ORPHA:169189
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Highly arched eyebrow...	OMIM:301044
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Fused cervical vertebrae, Stomatitis, Flaring of rib cage, Joint swelling, Broad ribs	OMIM:612852
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Cheilitis, Dental crowding, Everted lower lip vermilion, Kyphosis, Tooth agenesi...	ORPHA:534
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar...	OMIM:618280
Beck-Fahrner Syndrome	Long philtrum, High palate, Open mouth, Cardiomegaly, Ventricular septal defect	OMIM:618798
Alg9-Cdg	Low posterior hairline, Abnormal heart morphology, Bifid uvula, Wide mouth, Long philtrum, Right ...	ORPHA:79328
Yunis-Varon Syndrome	Broad secondary alveolar ridge, Absent sternal ossification, Short ribs, Cardiomyopathy, Glossopt...	ORPHA:3472
Distal Duplication 5Q	Thin vermilion border, Dextrocardia, Narrow mouth, Short stature, Carious teeth, Hernia, Long phi...	ORPHA:96097
Myopathy With Extrapyramidal Signs	Growth delay, Short neck, Ventricular septal defect, Tented upper lip vermilion	OMIM:615673
Encephalocraniocutaneous Lipomatosis	Lipoma, Multiple central nervous system lipomas, Subcutaneous lipoma, Atrial septal defect, Ventr...	OMIM:613001
Transketolase Deficiency	Patent foramen ovale, Proportionate short stature, Abnormal coronary artery course, Abnormal hear...	ORPHA:488618
Cerebellofaciodental Syndrome	Dental malocclusion, Scoliosis, Short stature, Sparse eyebrow, Mitral valve prolapse, Short neck,...	OMIM:616202
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Sacral dimple, Palpebral edema, Short philtrum, Scoliosis, High palate,...	ORPHA:261337
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Multiple joint contractures, Scoliosis, Ventricular septal defect, Pectus exca...	ORPHA:464306
Holoprosencephaly	Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Abnormal form of the ...	ORPHA:2162
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Short stature, Growth delay, Coarctation of aorta, Bifid uvula, Cleft palate, Pi...	OMIM:614921
Apert Syndrome	Narrow palate, Esophageal atresia, Delayed eruption of teeth, Pectus carinatum, Ectopic anus, Rhi...	OMIM:101200
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Vertebral arch anomaly, High palate, Broad ribs, Curly hair	ORPHA:85184
Monosomy 9P	Congenital diaphragmatic hernia, Abnormality of the vertebral column, Highly arched eyebrow, Scol...	ORPHA:261112
Meier-Gorlin Syndrome 7	Anal stenosis, Breast aplasia, Scoliosis, Vertebral segmentation defect, High palate, Narrow mout...	OMIM:617063
Ear-Patella-Short Stature Syndrome	High, narrow palate, Breast aplasia, Narrow mouth, Abnormal rib morphology, Growth delay, Camptod...	ORPHA:2554
Kyphomelic Dysplasia	Lateral clavicle hook, Disproportionate short stature, Undulate ribs, Cleft upper lip, Cleft pala...	OMIM:211350
Loeys-Dietz Syndrome 3	Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Pectus carinatum, Ventricula...	OMIM:613795
Mandibulofacial Dysostosis, Guion-Almeida Type	Esophageal atresia, Short stature, Cleft palate, Atrial septal defect, Ventricular septal defect,...	OMIM:610536
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Increased overbite	OMIM:618504
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Abnormal tricuspid valve morphology, Inguinal hernia, Abnormal hea...	ORPHA:217085
Kleefstra Syndrome 1	Everted lower lip vermilion, Persistence of primary teeth, Synophrys, Protruding tongue, Natal to...	OMIM:610253
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Vertebral compression fracture, Disproportionate short-limb short stature, I...	OMIM:610915
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio...	OMIM:610338
Diamond-Blackfan Anemia	Cleft soft palate, High palate, Adenocarcinoma of the colon, Cleft lip, Short stature, Coarctatio...	ORPHA:124
Pyknoachondrogenesis	Palpebral edema, Abnormality of mouth shape, Short thorax, Muscular edema, Enlarged thorax, Short...	ORPHA:3003
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Orofacial cleft, Vertebral segmentation defect, Missing ribs, Omphalocele, Tetralogy of Fallot, O...	ORPHA:3186
Jacobsen Syndrome	Abnormal eyelash morphology, Pectus excavatum, Missing ribs, Pyloric stenosis, Flexion contractur...	OMIM:147791
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Delayed puberty, Sacral dimple, Polyhydramnios, Inguinal hernia, Lipoma, Lower-limb joint contrac...	ORPHA:459070
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Omphalocele, Intestinal malrotation, Short sternum, Umbilical he...	OMIM:222448
Waardenburg Syndrome, Type 1	Premature graying of hair, Orofacial cleft, Myelomeningocele, Synophrys, White forelock, Spina bi...	OMIM:193500
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Abnormal tricuspid valve morphology, Inguinal hernia, Abnormal hea...	ORPHA:217093
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Pulmonic stenosis, Pulmonary artery stenosis, Aortic valve stenosis, Cle...	OMIM:100300
Okamoto Syndrome	Aortic valve stenosis, Abnormal mitral valve morphology, Intestinal malrotation, Abnormal heart m...	ORPHA:2729
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Rhizomelia, Disproportionate short-limb short stature, Knee flexion contracture, H...	OMIM:618019
Neurodevelopmental Disorder With Language Delay And Seizures	Growth delay, Ventricular septal defect	OMIM:619908
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Polyhydramnios, Duodenal atresia,...	ORPHA:141127
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Perimembranous ventricular septal defect, Long clavicles, Fused cer...	ORPHA:83617
Congenital Disorder Of Glycosylation, Type Iiaa	Patent ductus arteriosus after premature birth, Ventricular septal defect, Narrow chest, Knee fle...	OMIM:620454
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Death in childhood, Bell-shaped thorax, Ventricular septal defect, High pala...	OMIM:214100
Trichothiodystrophy	Alopecia of scalp, Dystrophic fingernails, High, narrow palate, Multiple joint contractures, Brit...	ORPHA:33364
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Patent foramen ovale, High palate, Narrow mouth, Proportionate short stature, Gr...	OMIM:613457
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Ventricular septal defect, Right ventricular hypertrophy, Arthrogryposis multip...	OMIM:613404
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Kyphosis, Biconca...	OMIM:259770
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Polyhydramnios, Inguinal hernia, Interrupted inferior vena cava ...	OMIM:618846
Duane-Radial Ray Syndrome	Aganglionic megacolon, Fused cervical vertebrae, Vascular dilatation, Spina bifida occulta, Anal ...	OMIM:607323
Combined Immunodeficiency-Enteropathy Spectrum	Nail dystrophy, Alopecia of scalp, Polyhydramnios, Rectal abscess, Absent eyebrow, Intestinal mal...	ORPHA:436252
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad eyebrow, Duodenal atresia, Broad alveolar ridges, Scoliosis, Patent foramen ovale, High pal...	OMIM:616975
Alagille Syndrome 1	Butterfly vertebral arch, Stroke, Hemivertebrae, Renal artery stenosis, Abnormal rib morphology, ...	OMIM:118450
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Disproportionate short-limb short stature, Scoliosis, Short ribs, Cupped ribs, Flat glenoid fossa...	OMIM:250420
Severe X-Linked Intellectual Disability, Gustavson Type	Severe postnatal growth retardation, Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Anal atresia, Short stature, Cleft ...	OMIM:309801
Hardikar Syndrome	Gastric varix, Partial anomalous pulmonary venous return, Cleft soft palate, Bilateral cleft pala...	OMIM:301068
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Glossoptosis, Abnormal heart morphology, ...	ORPHA:444077
Craniotubular Dysplasia, Ikegawa Type	Long philtrum, Thick lower lip vermilion, Increased intervertebral space, Short stature, Thick up...	OMIM:619727
Williams Syndrome	Abnormal carotid artery morphology, Abnormal form of the vertebral bodies, Hyperlordosis, Everted...	ORPHA:904
Congenital Tracheomalacia	Partial anomalous pulmonary venous return, Esophageal atresia, Right aortic arch, Ventricular sep...	ORPHA:95430
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Narrow chest, Abnormal form of the vertebral bodies, Thin ribs, Abn...	ORPHA:73230
Eiken Syndrome	Thick lower lip vermilion, Short philtrum, Oligodontia, Eruption failure, Multiple unerupted teet...	OMIM:600002
Phace Association	Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte...	OMIM:606519
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Alopecia of scalp, Flexion contracture of toe, Joint contracture of the 5th...	OMIM:602782
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Costello Syndrome	Lymphangiectasis, Thick lower lip vermilion, Barrel-shaped chest, Polyhydramnios, Pectus carinatu...	OMIM:218040
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Short philtrum, Highly arched eyebrow, Oligodontia, Everted lower lip verm...	OMIM:609460
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Disproportionate short stature, Rhizomelia, 11 pairs of ribs, Narrow chest, Short ri...	OMIM:250220
Arboleda-Tham Syndrome	Highly arched eyebrow, Pectus excavatum, Pulmonic stenosis, Intestinal malrotation, Wide mouth, I...	OMIM:616268
Ulbright-Hodes Syndrome	Postnatal growth retardation, Thin vermilion border, Long upper lip, Short ribs, High palate, Nar...	ORPHA:3404
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa...	ORPHA:99094
Acrocapitofemoral Dysplasia	Narrow chest, Disproportionate short-limb short stature, Pectus carinatum, Scoliosis, Short ribs,...	OMIM:607778
Zellweger Syndrome	High palate, Death in infancy, Pyloric stenosis, Short stature, Ventricular septal defect	ORPHA:912
X-Linked Hypophosphatemia	Vertebral hyperostosis, Enlargement of the costochondral junction, Abnormal dentin morphology, To...	ORPHA:89936
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Ventricular septal defect, Vascular dilatation	OMIM:219730
Cornelia De Lange Syndrome	Delayed puberty, Congenital diaphragmatic hernia, Highly arched eyebrow, Pectus excavatum, Low po...	ORPHA:199
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	High palate, Corneal scarring, Growth delay, Flexion contracture, Open mouth, Intrauterine growth...	OMIM:614653
Peters-Plus Syndrome	Disproportionate short-limb short stature, Pectus excavatum, Pulmonic stenosis, Umbilical hernia,...	OMIM:261540
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrioventricular canal defect, Polyhydramnios, Neoplasm of the tongue, Submucous cleft hard palat...	ORPHA:3047
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Postnatal growth retardation, Rhizomelia, Scoliosis, Cupped ribs, Short stature, Ovoid vertebral ...	OMIM:608940
Sclerosteosis 1	Sclerotic vertebral endplates, Tooth malposition, Broad clavicles, Dental malocclusion, Sclerotic...	OMIM:269500
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Short stature, Neonatal death, Patent ductus arteriosus, Atrial septal d...	OMIM:620024
Orofaciodigital Syndrome Xiv	Supernumerary tooth, Occipital encephalocele, Aplasia of the epiglottis, Short ribs, Cleft lip, C...	OMIM:615948
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Supernumerary tooth, Sacral dimple, Widely spaced teeth, Cleft soft palate, Breast aplasia, Ingui...	ORPHA:268261
Lissencephaly 9 With Complex Brainstem Malformation	Short stature, Ventricular septal defect	OMIM:618325
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Pectus carinatum, Hyperlordosis, Cardiomyopathy, Everted lower lip vermilion, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Pectus carinatum, Hyperlordosis, Cardiomyopathy, Everted lower lip vermilion, ...	ORPHA:363958
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Kyphoscoliosis, Delayed puberty, High, narrow palate, Widely spaced teeth, Abnormal left ventricl...	ORPHA:466791
Retinitis Pigmentosa With Or Without Skeletal Anomalies	High anterior hairline, Sparse eyelashes, Short stature, Sparse eyebrow, Thick vermilion border, ...	OMIM:250410
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Hypoplastic nipples, High palate, Death in adolescence, Camptodactyly, Death in ...	OMIM:614866
Schinzel-Giedion Syndrome	Kyphoscoliosis, Broad alveolar ridges, Generalized hypertrichosis, Abnormal heart morphology, Wid...	ORPHA:798
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Intestinal malrotation, Abnormal heart...	ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal subclavian artery morphology, Highly arched eyebrow, Dental crowding, Pulmonic stenosis,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal subclavian artery morphology, Highly arched eyebrow, Dental crowding, Pulmonic stenosis,...	ORPHA:353277
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Stillbirth, High, narrow palate, Abnormal vertebral morphology, Narrow chest, Sc...	ORPHA:95699
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Growth delay, Wide mouth, Frontal upsweep of hair, Ventricular septal def...	OMIM:617798
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Delayed eruption of teeth, Abnormality of hair texture, Abnormal rib morphology, Pu...	ORPHA:667
Diamond-Blackfan Anemia 5	Short stature, Ventricular septal defect	OMIM:612528
Feingold Syndrome 1	Tricuspid atresia, Polyhydramnios, Esophageal atresia, Interrupted aortic arch, High palate, Tric...	OMIM:164280
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Increased nuchal translucency, Coarctation o...	OMIM:620066
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal lumbar spine morphology, Scoliosis, Abnormal rib morpholog...	ORPHA:249
Degcags Syndrome	Premature graying of hair, Low posterior hairline, Pulmonic stenosis, Abnormal eyebrow morphology...	OMIM:619488
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Long philtrum, Intrauterine growth retardation, Alopecia of scalp, Scoliosis, Absent...	OMIM:264090
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hyperlordosis, Everted lower lip vermilion, Synophrys, Cleft palate, Thick vermilion border, Open...	OMIM:301066
Pallister-Killian Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Everted lower lip vermilion, Aortic valve stenos...	OMIM:601803
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short philtrum, Interrupted aortic arch, Short stature, Cleft palate, Intracranial hemorrhage, Pa...	ORPHA:163979
Schinzel-Giedion Midface Retraction Syndrome	Postnatal growth retardation, Long clavicles, Hypoplastic nipples, Hypoplasia of first ribs, Shor...	OMIM:269150
Kindler Epidermolysis Bullosa	Cheilitis, Periodontitis, Abnormal dental enamel morphology, Gingivitis, Esophagitis, Abnormal ri...	ORPHA:2908
Mowat-Wilson Syndrome	Aganglionic megacolon, Widely spaced teeth, Broad eyebrow, Tooth malposition, Delayed eruption of...	OMIM:235730
Kabuki Syndrome 1	Postnatal growth retardation, Abnormal vertebral morphology, Anal stenosis, Anoperineal fistula, ...	OMIM:147920
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Patent foramen ovale, Pericardial effusion, Dilated cardiomyopathy, Ventric...	ORPHA:26793
Hand-Foot-Genital Syndrome	Miscarriage, Sacral dimple, Ventricular septal defect	ORPHA:2438
Alzahrani-Kuwahara Syndrome	Long philtrum, Hypodontia, Narrow philtrum, Patent foramen ovale, Coronary sinus enlargement, Sho...	OMIM:619268
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Exaggerated cupid's bow, Flexion contracture, Smooth philtrum, Long philtrum, Ventricular septal ...	OMIM:619306
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Scoliosis, Hyperlordosis, Patent foramen ovale, High palate, Hypertrophic cardiom...	ORPHA:363700
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Thin vermilion border, Inguinal hernia, Short clavicles, High palate, Total anomalous pulmonary v...	OMIM:609945
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Rectoperineal fistula, Coarctation of aorta, Tetralogy of Fallot, Ventricul...	OMIM:618748
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Anal atresia, Short neck, Atrial septal defect, Ventricular septal ...	OMIM:610832
Chromosome 13Q14 Deletion Syndrome	Inguinal hernia, Patent foramen ovale, High palate, Everted lower lip vermilion, Growth delay, De...	OMIM:613884
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Rhizomelia, Scoliosis, Cupped ribs, Ovoid vertebral bodies, Severe short stature, Platyspondyly	ORPHA:85167
Townes-Brocks Syndrome	Delayed puberty, Abnormal vertebral morphology, Rectovaginal fistula, Anal atresia, Rectoperineal...	ORPHA:857
Craniofacial Microsomia 1	Cervical ribs, Occipital encephalocele, Transverse facial cleft, Branchial anomaly, Scoliosis, He...	OMIM:164210
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Scoliosis, Hypoplastic philtrum, Intestinal malrotation, Volvulus, Cerebral hemorrhage, Sparse ha...	OMIM:616682
Fraser Syndrome	Orofacial cleft, Anal stenosis, Encephalocele, Dental crowding, Ectopic anus, Vertebral segmentat...	ORPHA:2052
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Narrow chest, Inguinal hernia, Pectus carinatum, Scoliosis, Pectus excavatum...	OMIM:619525
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Death in infancy, Short stature, Thoracic dyspla...	OMIM:208500
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage	ORPHA:369929
Brain-Lung-Thyroid Syndrome	Patent foramen ovale, Short stature, Growth delay, Hypodontia, Atrial septal defect, Ventricular ...	ORPHA:209905
Hydrolethalus Syndrome 1	Stillbirth, Polyhydramnios, Anencephaly, Omphalocele, Cleft palate, Median cleft upper lip, Intra...	OMIM:236680
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Biventricular hypertrophy, Ventricular septal defect, Left ventricular hype...	OMIM:615474
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Thick vermilion border, Mitral valve prolapse, Varicose veins, Ventricular septa...	OMIM:617107
Acrofacial Dysostosis, Cincinnati Type	Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Median pseudocleft lip, Bicuspid ...	OMIM:616462
Yunis-Varon Syndrome	Absent sternal ossification, Broad alveolar ridges, Cardiomyopathy, Kyphosis, Intrauterine growth...	OMIM:216340
Fanconi Anemia, Complementation Group C	Anterior wedging of T12, Short stature, Flexion contracture, Intrauterine growth retardation, Ven...	OMIM:227645
Williams-Beuren Syndrome	Kyphoscoliosis, Premature graying of hair, Pectus excavatum, Microdontia, Pulmonic stenosis, Mitr...	OMIM:194050
Eisenmenger Syndrome	Atrioventricular canal defect, Bacterial endocarditis, Stroke, Aortopulmonary window, Ascites, Ge...	ORPHA:97214
Keutel Syndrome	Miscarriage, Pulmonary artery hypoplasia, Pulmonic stenosis, Costal cartilage calcification, Vent...	OMIM:245150
Alpha-Mannosidosis, Infantile Form	Widely spaced teeth, Highly arched eyebrow, Pectus carinatum, Pectus excavatum, Umbilical hernia,...	ORPHA:309282
Johanson-Blizzard Syndrome	Hypoplasia of the primary teeth, Severe intrauterine growth retardation, Ascites, Long philtrum, ...	OMIM:243800
Coccidioidomycosis	Panniculitis, Abnormality of the vertebral column, Vasculitis, Pleural empyema, Pericarditis, Exu...	ORPHA:228123
Smith-Lemli-Opitz Syndrome	Sacral dimple, Aganglionic megacolon, Broad alveolar ridges, Dental crowding, Hypertrophic cardio...	OMIM:270400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Palpebral edema, Kyphosis, Broad philtrum, Bicuspid aortic valve, Intrauterine g...	OMIM:619475
Orofaciodigital Syndrome Type 14	Supernumerary tooth, Aplasia of the epiglottis, Cleft palate, Lobulated tongue, Patent ductus art...	ORPHA:434179
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Short philtrum, Short stature, Ventricular septal defect, Peripheral pulmona...	OMIM:619575
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Spina bifida occulta, Abnormal right ventricle morphology, Inguinal hernia, Camptodactyly, Thick ...	ORPHA:500095
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Narrow palate, Barrel-shaped chest, Pectus carinatum, Broad clavicles, Hypoplastic nipples, Hemiv...	OMIM:276820
Combined Oxidative Phosphorylation Deficiency 15	Short stature, Ventricular septal hypertrophy, Ventricular septal defect, Inguinal hernia	OMIM:614947
Ulnar-Mammary Syndrome	Delayed puberty, Breast hypoplasia, Anal stenosis, Inguinal hernia, Short clavicles, Hypoplastic ...	OMIM:181450
Osteopetrosis With Renal Tubular Acidosis	Thick lower lip vermilion, Prominent floating ribs, Tooth malposition, High palate, Abnormality o...	ORPHA:2785
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Everted lower lip vermilion, Ascites, Edema, Inguinal hernia, Pa...	OMIM:619534
Omodysplasia 1	Rhizomelia, Disproportionate short-limb short stature, Pulmonary artery stenosis, Umbilical herni...	OMIM:258315
Cutis Laxa, Autosomal Dominant 1	Inguinal hernia, Uterine prolapse, Long philtrum, Ventricular septal defect, Peripheral pulmonary...	OMIM:123700
Renal Agenesis	Ventricular septal defect, Oligohydramnios, Anal atresia	ORPHA:411709
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Stillbirth, Ankle flexion contracture, Polyhydramnios, Frontal ence...	OMIM:268300
Sotos Syndrome	Pectus excavatum, Kyphosis, Agenesis of permanent teeth, Abnormal heart morphology, Umbilical her...	ORPHA:821
Histiocytoid Cardiomyopathy	Pulmonary edema, Stroke-like episode, Cleft palate, Cardiomegaly, Ventricular septal defect	ORPHA:137675
Camptodactyly Syndrome, Guadalajara Type 3	Short neck, Thick eyebrow, Abnormal rib morphology, Spina bifida occulta	ORPHA:488434
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Sandwich appearance of...	OMIM:620558
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Kyphoscoliosis, Inguinal hernia, Dental crowding, Thin ribs, Platyspondyly, Progressive congenita...	OMIM:225400
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Absent cupid's bow, Widely spaced teeth, Lower-limb joint contractur...	ORPHA:513456
Osteopetrosis, Autosomal Recessive 7	Growth delay, Death in childhood, Multiple rib fractures, Death in infancy	OMIM:612301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	High anterior hairline, Scoliosis, Anomalous origin of left subclavian artery, Patent foramen ova...	ORPHA:438213
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Highly arched eyebrow, Dental crowding, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Ao...	ORPHA:261552
Liver Disease, Severe Congenital	Left atrial enlargement, Pulmonary edema, Nail dystrophy, Protein-losing enteropathy, Inguinal he...	OMIM:619991
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Scoliosis, High palate, Short stature, Carious teeth, Downturned corners of mouth, Growth delay, ...	OMIM:619522
Proboscis Lateralis	Orofacial cleft, Agenesis of canine, High palate, Abnormal eyebrow morphology, Abnormal location ...	ORPHA:141099
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Cleft palate, Umbilical hernia	ORPHA:1934
Genitopatellar Syndrome	Anal stenosis, Polyhydramnios, Delayed eruption of teeth, Scoliosis, Sparse scalp hair, Anal atre...	OMIM:606170
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	High palate, Bifid uvula, Umbilical hernia, Long philtrum, Short neck, Ventricular septal defect,...	OMIM:620330
Townes-Brocks Syndrome 1	Anal stenosis, Rectovaginal fistula, Tracheoesophageal fistula, Rectoperineal fistula, Anal atres...	OMIM:107480
Penile Agenesis	Rectal fistula, Anal atresia, Tracheoesophageal fistula, Atrial septal defect, Ventricular septal...	ORPHA:49

Histopathology

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

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye - MPATH pathological process term dysplasia	Pnn^{tm1.1(KOMP)Vlcg}	HET		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pnn.

No publications found that use IMPC mice or data for Pnn.

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MGI Allele	Allele Type	Produced
Pnn^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pnn^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Pnn^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Pnn^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pnn MGI:1100514

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Eye Morphology

Embryo LacZ

Gross Pathology and Tissue Collection

X-ray

X-ray

Adult LacZ

Histopathology

Combined SHIRPA and Dysmorphology

Eye Morphology

Human diseases caused by Pnn mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data