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Gene: Ift25 MGI:1920188

Gene Summary

Name:

intraflagellar transport 25

Synonyms:

Hspb11, 2900042B11Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating LDL cholesterol level	Ift25^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.21×10^-06
preweaning lethality, complete penetrance	Ift25^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating free fatty acids level	Ift25^{tm1a(EUCOMM)Wtsi}	HET	Early adult	9.08×10^-07
increased circulating glycerol level	Ift25^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.23×10^-05

Download data as: TSV XLS

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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
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	Not available
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 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	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	100% (2 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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

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

No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

Hspb11^{tm1a(EUCOMM)Wtsi}
HET, Female, WTSI

Hspb11^{tm1a(EUCOMM)Wtsi}
head, HET, Female, WTSI

Hspb11^{tm1a(EUCOMM)Wtsi}
body, HET, Female, WTSI

Hspb11^{tm1a(EUCOMM)Wtsi}
forearm, WT, Male, WTSI

View all 174 images

Human diseases caused by Ift25 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 Ift25 (0 diseases)
Human diseases predicted to be associated with Ift25 (1365 diseases)

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

The table below shows human diseases predicted to be associated to Ift25 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal lung morphology, Congenital malfo...	ORPHA:294975
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Lethal Congenital Contracture Syndrome 10	Narrow palate, Long philtrum, Adducted thumb, Overlapping fingers, Talipes equinovarus, Femoral b...	OMIM:617022
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Genu valgum, Short philtrum, Conical tooth, Hypoplasia of the maxi...	OMIM:619142
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao...	OMIM:217095
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Coarctation of aorta, Broad hall...	OMIM:217085
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of fingers, Single transverse palmar crease, 2-3 toe syndactyly, High palate, Persistent...	ORPHA:3304
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal...	OMIM:174200
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Rhizomelia, Proximal placement of thumb, Short philtrum, Bowing o...	ORPHA:93267
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Retrognathia, Preaxial polydactyly, Ventricular septal defect, High palate, Bilateral talipes equ...	OMIM:618142
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Sandal gap, Mesoaxial polydactyly...	ORPHA:93403
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Short philtrum, Sandal gap, Single transverse palmar crease, C...	OMIM:617927
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Inguinal hernia, Hydrocepha...	OMIM:175700
Pseudotrisomy 13 Syndrome	Tricuspid atresia, 11 pairs of ribs, Dextrocardia, Encephalocele, Hydrocephalus, 2-3 toe syndacty...	OMIM:264480
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Amelia, Omphalocele, Cleft upper l...	OMIM:601357
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Short long bone, Myelomeningocele, Pulmonic stenosis, Absence of the sac...	OMIM:306955
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Upper limb undergrowth, Omphalocele, Tetralogy of Fallot, Lower ...	OMIM:613630
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Carpenter Syndrome 1	Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilica...	OMIM:201000
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Missing ribs, Anal atresia, Pulmonic stenosis, Aortic valve stenosis, Micrognathia...	OMIM:220210
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Disproportionate short stature, Abnormal tricuspid valve morpholo...	ORPHA:1354
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Abnormal aortic arch morphology, Abnormal hip bone morphology, Mandib...	ORPHA:1110
Genitopalatocardiac Syndrome	Transposition of the great arteries, Right aortic arch, Cleft upper lip, Micrognathia, Cleft pala...	OMIM:231060
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Short ribs, Hypoplastic ilia, Omphalocele, Micromelia, Postaxial polyda...	OMIM:617895
Right Atrial Isomerism	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia...	OMIM:208530
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Glossoptosis, Oral synechia, Short stature, Camptodactyly of fing...	ORPHA:1388
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Abnormal mitral valve m...	ORPHA:1277
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Thick lower lip vermilion, Clinodactyly of the 5th finger, Gingival...	OMIM:179613
Catel-Manzke Syndrome	Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Short humerus, Bifid uvula, Um...	OMIM:616145
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ...	ORPHA:1209
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Intestinal malrotation, Long philtrum, Overlapping toe, Long toe, Short philtrum, Patent foramen ...	OMIM:618316
Eng-Strom Syndrome	Short stature, Camptodactyly of finger, Brachydactyly, Intrauterine growth retardation, Ventricul...	ORPHA:1937
Otopalatodigital Syndrome Type 2	Glossoptosis, Myelomeningocele, Hypoplastic frontal sinuses, Flared iliac wing, Anodontia, Abnorm...	ORPHA:90652
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Craniofacial hyp...	ORPHA:2484
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal lung lobation, Congenital diaphragmatic hernia, Bilateral single transverse palmar creas...	ORPHA:1120
Robinow Syndrome, Autosomal Recessive 2	Long philtrum, Ventral hernia, Triangular mouth, Cleft soft palate, Sandal gap, Gingival overgrow...	OMIM:618529
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve...	OMIM:619343
Acalvaria	Abnormal lung lobation, Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Omphalocele, Cle...	ORPHA:945
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Orofacial cleft, Abnormal tibia morphology, Anencephaly, Encepha...	ORPHA:1335
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge...	ORPHA:2141
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia	OMIM:232700
Kagami-Ogata Syndrome	Retrognathia, Inguinal hernia, Thin ribs, Diastasis recti, Omphalocele, Pulmonic stenosis, Hypopl...	OMIM:608149
Pierre Robin Syndrome	Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Cor pulmonale	OMIM:261800
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Long philtrum, Sandal gap, Aortic aneurysm, Patent foramen ovale, 2-3 toe syndactyly, Persistent ...	ORPHA:477817
Bowen-Conradi Syndrome	Abnormal lung lobation, Orofacial cleft, Rocker bottom foot, Clinodactyly of the 5th finger, Seve...	ORPHA:1270
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Feingold Syndrome 2	Postnatal growth retardation, Intestinal atresia, 2-3 toe syndactyly, Short middle phalanx of the...	OMIM:614326
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Triploidy	Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Finger syndactyly, Narrow mouth, ...	ORPHA:3376
Holt-Oram Syndrome	Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Proximal placement of th...	OMIM:142900
Bullous Dystrophy, Hereditary Macular Type	Short finger, Death in childhood, Severe short stature, Acrocyanosis, Tapered finger	OMIM:302000
Short-Rib Thoracic Dysplasia 12	Anencephaly, Short ribs, Short long bone, Intestinal malrotation, Intrauterine growth retardation...	OMIM:269860
Feingold Syndrome Type 2	Short stature, Short middle phalanx of finger, Short thumb, Jejunal atresia, Brachydactyly, Toe s...	ORPHA:391646
Adams-Oliver Syndrome 4	Patent ductus arteriosus, Aplasia of the distal phalanges of the toes, Absent middle phalanx of t...	OMIM:615297
Hamamy Syndrome	Everted lower lip vermilion, Wide mouth, Syndactyly, Long philtrum, Long toe, Inguinal hernia, Hi...	OMIM:611174
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ven...	OMIM:601927
Chromosome 9P Deletion Syndrome	Retrognathia, Clinodactyly of the 5th toe, Sandal gap, Long philtrum, Long toe, Narrow palate, Pe...	OMIM:158170
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Intrauter...	OMIM:146510
Boomerang Dysplasia	Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd...	ORPHA:1263
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv...	OMIM:616300
Fetal Minoxidil Syndrome	Micrognathia, Ventricular septal defect, Clinodactyly of the 5th finger, Umbilical hernia	ORPHA:1918
Pseudodiastrophic Dysplasia	Rhizomelia, Omphalocele, Malar flattening, Phalangeal dislocation, Elbow dislocation, Talipes equ...	ORPHA:85174
C Syndrome	Radial deviation of finger, Dislocated radial head, Thick anterior alveolar ridges, High palate, ...	OMIM:211750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Anomalous origin of left coronary artery from the pulmonary artery, Short long bone, Death in inf...	OMIM:618845
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Rocker bottom foot, Broad 2nd toe, Arachnodactyly, Wide mouth, L...	ORPHA:1692
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Broad palm, Clinodactyly, Aganglionic megacolon, Patent foram...	OMIM:190685
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Trisomy 1Q	Congenital diaphragmatic hernia, Hydrocephalus, Narrow mouth, Abnormal rib morphology, Omphalocel...	ORPHA:261344
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Congenital diaphragmatic hernia, Retrognathia, Narrow greater sciatic not...	OMIM:263210
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnorma...	ORPHA:3035
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Large placenta, Diastasis recti, Omphalocele, Coat hanger sign of r...	ORPHA:254534
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Short ribs, Tooth agen...	ORPHA:2092
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ...	OMIM:619702
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Short stature, Metatarsus adductus,...	OMIM:613005
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Death in infancy, Omphalocele, Bifid uvula, Cleft palate	OMIM:258320
Mesoaxial Hexadactyly And Cardiac Malformation	Everted lower lip vermilion, Pulmonic stenosis, Short stature, Hand polydactyly, Patent ductus ar...	OMIM:249670
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Dental crowding, Omphalocele, Short stature, Micrognathia, Natal tooth, Pul...	OMIM:145420
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Mmep Syndrome	Orofacial cleft, Triphalangeal thumb, Mandibular prognathia, Split foot, Ventricular septal defec...	ORPHA:3434
Apert Syndrome	Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Narrow palate, Hydrocephalus, Posta...	OMIM:101200
Distal Duplication 15Q	High palate, Anal atresia, Omphalocele, Camptodactyly of finger, Micrognathia, Downturned corners...	ORPHA:1707
Pierre Robin Sequence With Facial And Digital Anomalies	Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,...	OMIM:311895
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
14Q11.2 Microdeletion Syndrome	Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Toe clinodactyly...	ORPHA:261120
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Femoral bowing, Short ribs, Short long bone, Acetabular spurs, Short statur...	OMIM:615503
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the hand, Clinodactyly of the 5th finger, Dental crowding, Eruption failure, 2-3 t...	ORPHA:476126
Joubert Syndrome 18	Retrognathia, Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydac...	OMIM:614815
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Aplasia/Hypoplasia of the thum...	ORPHA:3186
Hydrolethalus Syndrome 1	Abnormal lung lobation, Stillbirth, Anencephaly, Talipes equinovarus, Upper limb undergrowth, Pos...	OMIM:236680
Sonoda Syndrome	Short stature, Ventricular septal defect, Narrow mouth, High axial triradius	OMIM:270460
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Sandal gap, Short stature, Intrauterine grow...	ORPHA:2515
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch...	OMIM:618254
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Abnormal hip bone morphology, Abnormal lower lip morphology, Abn...	ORPHA:1166
Vacterl/Vater Association	Congenital diaphragmatic hernia, Occipital encephalocele, Anencephaly, Finger syndactyly, Non-mid...	ORPHA:887
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Ventricular septal defect, Spina b...	ORPHA:2476
Ivic Syndrome	Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ...	OMIM:147750
Maternal Phenylketonuria	Long philtrum, Esophageal atresia, High palate, Coarctation of aorta, Abnormal heart morphology, ...	ORPHA:2209
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Miscarriage, Truncus arteriosus, Pulmonary ...	OMIM:620294
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Isomerism, Partial anomalous pulmonary venous return,...	OMIM:619657
Double Outlet Right Ventricle	Cyanosis, Heterotaxy, Truncus arteriosus, Pulmonary artery atresia, Narrow mouth, Pulmonic stenos...	ORPHA:3426
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Meckel Syndrome, Type 2	Polydactyly, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the l...	OMIM:603194
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Epiphyseal stippling, Glossoptosis, Death in infancy, Ventricular septal defect	OMIM:614876
Orofaciodigital Syndrome Xvii	Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal,...	OMIM:617926
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Mesomelia, Syndactyly, Long philtrum, Hypoplastic right heart, Clinodactyly, Triangu...	OMIM:616894
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Constricting Bands, Congenital	Abnormal lung lobation, Ectopia cordis, Tessier cleft, Encephalocele, Omphalocele, Cleft upper li...	OMIM:217100
Primary Pulmonary Hypoplasia	Pneumothorax, Cyanosis, Dextrocardia, Patellar hypoplasia, Hypoxemia, Micrognathia, Secundum atri...	ORPHA:2257
Holt-Oram Syndrome	Atrioventricular canal defect, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndac...	ORPHA:392
Nemaline Myopathy 9	High palate, Arthrogryposis multiplex congenita, Micrognathia, Cleft palate, Ventricular septal d...	OMIM:615731
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Fryns Syndrome	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Intestinal malrotation, Wide mo...	ORPHA:2059
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Retrognathia, Hypoplastic left atrium, Intestinal malrotation, M...	OMIM:615524
Orofaciodigital Syndrome Type 10	Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso...	ORPHA:2756
Trisomy 18	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Anencephaly, Abnorma...	ORPHA:3380
Polydactyly, Preaxial I	Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu...	OMIM:174400
Tetralogy Of Fallot	Thin vermilion border, Clinodactyly of the 5th finger, Tetralogy of Fallot, Brachydactyly, Intrau...	ORPHA:3303
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Cyanosis, Abnormal a...	ORPHA:860
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Mandibular prognathia, Abnormal mitral valve morphology, Tetralogy...	ORPHA:1919
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Finger clinodactyly, Mesoaxial polydactyly, High palate, Central Y-shaped m...	ORPHA:2754
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Deep palmar crease, Clinodactyly of the 5th finger, Inguinal hernia, Delayed eruptio...	OMIM:247200
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Abnormal heart morphology, Cervical ribs, Long philtrum, Short 5th finger, In...	ORPHA:508488
Meier-Gorlin Syndrome 7	Bowing of the legs, Anal stenosis, Dislocated radial head, Aplasia/Hypoplasia of the patella, 2-3...	OMIM:617063
Chromosome 10Q26 Deletion Syndrome	Postnatal growth retardation, Limited elbow extension, 2-3 toe cutaneous syndactyly, Radial devia...	OMIM:609625
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Intrauterine growth retardation, Short stature, Interphalangeal joint contracture of finger, Knee...	OMIM:606242
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Anencephaly, Encephalocele, Aplasia/Hypoplasia of the thumb, Meningocele,...	ORPHA:1908
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P...	OMIM:618167
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Abnormal heart morphology, Hernia, In...	ORPHA:185
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal lung lobation, Bilateral single transverse palmar creases, High, narrow palate, Truncus ...	ORPHA:2516
Perching Syndrome	Joint contracture, High palate, Camptodactyly, Cyanosis	OMIM:617055
Neuralgic Amyotrophy	Narrow mouth, Scapular winging, Short stature, Bifid uvula, Cleft palate, Upper limb amyotrophy, ...	ORPHA:2901
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
D-Glyceric Aciduria	Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia	ORPHA:941
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, High palate, Abnormal epiphysis morpho...	ORPHA:3098
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Preaxial polydactyly, Anencephaly, Accessory oral frenulum, Hydr...	OMIM:616546
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Diamond-Blackfan Anemia 6	Retrognathia, Triphalangeal thumb, Ventricular hypertrophy, Growth delay, Cleft upper lip, Microg...	OMIM:612561
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Intestinal malrotation, Paranasal sinus hypoplasia, ...	OMIM:300373
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Mandibular prognathia, Ec...	ORPHA:94066
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ...	OMIM:615779
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu...	ORPHA:244
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Acropectoral Syndrome	Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx	OMIM:605967
3C Syndrome	Abnormal hip bone morphology, Death in infancy, Pulmonic stenosis, Abnormal mitral valve morpholo...	ORPHA:7
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Thin vermilion border, Death in childhood, Patent ductus arteriosus, Hydrocephalus,...	OMIM:612938
3Mc Syndrome 1	Postnatal growth retardation, Caudal appendage, Clinodactyly of the 5th finger, Spina bifida occu...	OMIM:257920
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Miller-Dieker Syndrome	Growth delay, Clinodactyly of the 5th finger, Abnormal upper lip morphology, Omphalocele	ORPHA:531
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Short ribs, Femoral bowing, Short long bone, Absent tibia, Intestinal malrotation, Cone-shaped ep...	OMIM:613091
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Retrognathia, Large placenta, Inguinal hernia, Single transverse pa...	ORPHA:254528
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Posterior r...	OMIM:265380
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda...	OMIM:617866
Schisis Association	Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Anal atresia, Micromelia, Omphalocel...	ORPHA:63862
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypopl...	ORPHA:1686
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Amelia, Omphalocele, Intestinal ...	OMIM:601163
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Ventral her...	OMIM:313850
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Abnormal aortic ar...	ORPHA:96334
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly, Delayed puberty, Short stature	ORPHA:141333
Cardioacrofacial Dysplasia 2	Atrioventricular canal defect, Clinodactyly of the 5th finger, Genu valgum, Short philtrum, Acces...	OMIM:619143
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Hydrocephalus, Ventricular septal defect, Cutis marmorata, Syndactyly, Smooth philtr...	OMIM:602501
Lambotte Syndrome	Semilobar holoprosencephaly, Retrognathia, Narrow mouth, Intrauterine growth retardation, Ventric...	OMIM:245552
Arthrogryposis, Distal, Type 1C	Rocker bottom foot, Retrognathia, Wrist flexion contracture, Bifid uvula, Adducted thumb, Elbow f...	OMIM:619110
Mucolipidosis Type Iii	Abnormal aortic valve morphology, Abnormal hip bone morphology, Craniofacial hyperostosis, Inguin...	ORPHA:577
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauterine growth retardation, Tran...	ORPHA:3384
Suleiman-El-Hattab Syndrome	Polydactyly, Thick lower lip vermilion, Inguinal hernia, Recurrent respiratory infections, Single...	OMIM:618950
Lambert Syndrome	Jaundice, Inguinal hernia, Branchial anomaly, Wide mouth, Malar flattening, Intrauterine growth r...	ORPHA:1296
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Cutan...	OMIM:600987
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Polysyndactyly of hallux, Ventricular septal defect, Aganglionic megacolon, Preaxial foot polydac...	OMIM:235750
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Bardet-Biedl Syndrome 19	Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Patent ductus...	OMIM:615996
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Tetr...	ORPHA:261243
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Intrauterine growth retardation, Overriding aorta, Ventricular septal defect, Patent ductus arter...	OMIM:617021
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal lung lobation, Orofacial cleft, Encephalocele, Hydrocephalus, Narrow mouth, Postaxial ha...	ORPHA:2166
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of t...	ORPHA:371428
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Short humerus, Mitral valve pr...	OMIM:309350
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Heterotaxy, Bacterial endocarditis, Coronary sinus enlargeme...	ORPHA:1330
Tarp Syndrome	Rocker bottom foot, Glossoptosis, Abnormal duodenum morphology, Intrauterine growth retardation, ...	ORPHA:2886
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Codas Syndrome	Atrioventricular canal defect, Genu valgum, Proximal placement of thumb, Rectovaginal fistula, De...	OMIM:600373
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Phaver Syndrome	Triphalangeal thumb, Hypoplastic aortic arch, Pulmonary artery atresia, Abnormal rib morphology, ...	ORPHA:2876
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Acromicria, Downturned corners of mouth, Micrognathia, Abnormal hea...	ORPHA:254525
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Clubbing of fingers,...	ORPHA:2302
Cranioacrofacial Syndrome	Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect, Abnormal hand morphology	OMIM:122850
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Distal Deletion 15Q	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Double outlet right ventricle w...	ORPHA:1596
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Retrognathia, Overlapping fingers, Deep palmar crease, Talipes equinovarus, H...	OMIM:301056
Syndactyly-Polydactyly-Earlobe Syndrome	1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly...	OMIM:186350
Intellectual Developmental Disorder, Autosomal Recessive 73	Widely spaced teeth, Clinodactyly of the 5th finger, Single transverse palmar crease, Thick upper...	OMIM:619717
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Short ribs, Femoral bowing, Short metacarpal, Tibial bowing, Broad thumb, Umb...	OMIM:304120
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Death in childhood, Rectal atresia, Intestinal atresia, Om...	OMIM:243150
Holzgreve Syndrome	Cleft upper lip, Hand polydactyly, Cleft palate, Hypoplastic left heart	OMIM:236110
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Congenital hip dislocation, Growth delay, Omphalocele, Macroglossia	OMIM:614450
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Death in infancy, Short stature, Arachnodactyly, Micrognathia, Cleft palate, Malar ...	ORPHA:93946
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Pulmonic stenosis, Broad thumb, Overlapping toe, Short philtrum, Cor...	ORPHA:435638
14Q24.1Q24.3 Microdeletion Syndrome	Dislocated radial head, Limited elbow extension and supination, Truncus arteriosus, Pulmonary art...	ORPHA:401935
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Gingival overgrowth, Abnormality of th...	OMIM:169400
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Leopard Syndrome 1	Delayed puberty, Limited elbow movement, Cubitus valgus, Spina bifida occulta, Mandibular prognat...	OMIM:151100
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Short ribs, Narrow mouth, Abnormal...	ORPHA:2021
Pentasomy X	Delayed puberty, Clinodactyly of the 5th finger, Abnormal cardiac septum morphology, Short statur...	ORPHA:11
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Prominent fingertip pads, Glossoptosis, Microdontia, Eclabio...	OMIM:602535
Mesomelic Limb Shortening And Bowing	Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Microg...	OMIM:249710
Femoral-Facial Syndrome	Orofacial cleft, Abnormal fibula morphology, Inguinal hernia, Preaxial foot polydactyly, Abnormal...	ORPHA:1988
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Orofacial cleft, Atrioventricular canal defect, Triphalangeal thumb, Aplas...	ORPHA:2549
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Cutaneous photosensitivity, Micrognathia, Cleft palate, Intrauterine growth r...	OMIM:616570
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Omphalocele, Intestinal malrotation, Umbilical hernia, Ventricul...	ORPHA:2143
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Deep palmar crease, Plantar flexion contracture, Temporomandibular joint ank...	ORPHA:2872
Frontonasal Dysplasia 1	Widely-spaced maxillary central incisors, Radial deviation of finger, Pectoral muscle hypoplasia/...	OMIM:136760
Filippi Syndrome	Postnatal growth retardation, Thin vermilion border, Finger clinodactyly, Short philtrum, Single ...	OMIM:272440
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Hypopl...	OMIM:607323
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD...	OMIM:615703
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Inguinal hernia, Camptodactyly, Spina bifida, Mitral valve prolapse, Dermatoglyphic ridges abnorm...	OMIM:211960
Nevus Comedonicus Syndrome	Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly	ORPHA:64754
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Isomerism, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Abse...	OMIM:314390
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Hydrocephalus, Gingival overgrowth, Abnormal intestine morpholog...	ORPHA:1834
Fetal Valproate Spectrum Disorder	Thin vermilion border, Narrow mouth, Omphalocele, Downturned corners of mouth, Long philtrum	ORPHA:1906
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Anal atresia, Omphalocele, Cervical ribs, Preaxial hand polydactyly, Prune belly, Talipes equinov...	OMIM:601389
Waardenburg Syndrome Type 3	Atelectasis, Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal bone...	ORPHA:896
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Atrioventricular canal defect, Transposit...	ORPHA:251071
Tarp Syndrome	Rocker bottom foot, Meckel diverticulum, Glossoptosis, Intrauterine growth retardation, Tongue no...	OMIM:311900
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Br...	ORPHA:380
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Acrocallosal Syndrome	Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid uv...	OMIM:200990
8P23.1 Duplication Syndrome	Pulmonic stenosis, Tetralogy of Fallot, Thick vermilion border, Long philtrum, Toe syndactyly, Ve...	ORPHA:251076
Tetralogy Of Fallot	Tetralogy of Fallot, Clinodactyly of the 5th finger	OMIM:187500
Cornelia De Lange Syndrome 2	Postnatal growth retardation, Limited elbow movement, Proximal placement of thumb, High palate, S...	OMIM:300590
Intellectual Developmental Disorder, Autosomal Recessive 79	Clinodactyly of the 5th finger, Short hallux, Slender finger, Long fingers, Smooth philtrum, Vent...	OMIM:620393
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in infancy, ...	OMIM:210710
Jawad Syndrome	Retrognathia, Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th fing...	OMIM:251255
Meckel Syndrome 14	Pneumothorax, Retrognathia, Occipital encephalocele, Postaxial hand polydactyly, Bowing of the lo...	OMIM:619879
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Narrow mouth, Postaxial hand polydactyly, Ventricular septal defect, Abnormal card...	ORPHA:83473
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse...	ORPHA:1972
Fryns Syndrome	Rocker bottom foot, Proximal placement of thumb, Meckel diverticulum, Prominent fingertip pads, I...	OMIM:229850
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Thick lower lip vermilion, Short philtrum, Micrognathia, Atrial septal defect, Ventricular septal...	OMIM:608227
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, In...	OMIM:618454
Vater/Vacterl Association	Postnatal growth retardation, Hypoplasia of the radius, Occipital encephalocele, Transposition of...	OMIM:192350
Autosomal Recessive Amelia	Orofacial cleft, Non-midline cleft of the upper lip, Amelia involving the upper limbs, Amelia, Ac...	ORPHA:1027
Yuan-Harel-Lupski Syndrome	Long philtrum, Clinodactyly of the 5th finger, Sandal gap, Aortic root aneurysm, High palate, Smo...	OMIM:616652
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect, Death in childhood, Recurrent respiratory infect...	OMIM:253300
Orofaciodigital Syndrome Viii	Polydactyly, High palate, Short stature, Cleft palate, Recurrent aspiration pneumonia, Syndactyly...	OMIM:300484
Orofaciodigital Syndrome Ii	Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Hydrocephalus, Pos...	OMIM:252100
Charge Syndrome	Delayed puberty, Absent tibia, Tracheoesophageal fistula, Pulmonic stenosis, Abnormal palmar derm...	OMIM:214800
Meckel Syndrome, Type 1	Occipital encephalocele, Radial deviation of finger, Anencephaly, Intestinal malrotation, Wide mo...	OMIM:249000
Char Syndrome	Clinodactyly of the 5th finger, Triangular mouth, Short philtrum, Short middle phalanx of the 5th...	ORPHA:46627
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Clinodactyly of th...	OMIM:617877
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Cyanosis, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Deat...	OMIM:617478
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Retrognathia, Thin vermilion border, Abnormal metaphysis morphology, Abno...	ORPHA:2631
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Tracheoesophageal fistula, Abnormal heart morphology, Recurrent ...	ORPHA:2745
Burn-Mckeown Syndrome	Thin vermilion border, Inguinal hernia, Short philtrum, Mandibular prognathia, 2-3 toe syndactyly...	OMIM:608572
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Roifman Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Noncompaction cardiomyopathy, Singl...	OMIM:616651
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Postnatal growth retardation, Broad secondary alveolar ridge, Inguinal hernia, High palate, Short...	ORPHA:3369
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Hydrocephalus, Histiocytoid cardiomyopathy, Single transverse pa...	OMIM:309801
Aase-Smith Syndrome I	Hydrocephalus, Slender finger, Death in infancy, Cleft palate, Flexion contracture, Open mouth, V...	OMIM:147800
Pagod Syndrome	Congenital diaphragmatic hernia, Situs inversus totalis, Encephalocele, Meningocele, Abnormal aor...	ORPHA:991
Chromosome 3Pter-P25 Deletion Syndrome	Postnatal growth retardation, Retrognathia, Thin vermilion border, Atrioventricular canal defect,...	OMIM:613792
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ...	ORPHA:3104
Endocrine-Cerebroosteodysplasia	Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Hydrocephalus, Microm...	OMIM:612651
Heterotaxy, Visceral, 5, Autosomal	Intestinal malrotation, Absence of the sacrum, Intrauterine growth retardation, Right atrial isom...	OMIM:270100
Fetal Trimethadione Syndrome	Bilateral single transverse palmar creases, Transposition of the great arteries, High palate, Mic...	ORPHA:1913
Trigonocephaly With Short Stature And Developmental Delay	Clinodactyly of the 5th finger, Inguinal hernia, Broad alveolar ridges, High palate, Short statur...	OMIM:314320
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Malar flattening, Clinodactyly	OMIM:615984
Aminopterin Syndrome Sine Aminopterin	Inguinal hernia, Oligodontia, High palate, Short stature, Arachnodactyly, Micrognathia, Cleft pal...	OMIM:600325
8p23.1 deletion syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricular canal defect, Abnormal he...	DECIPHER:39
Desbuquois Syndrome	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho...	ORPHA:1425
Esophageal Atresia	Cyanosis, Bronchitis, Barrett esophagus, Esophagitis, Tracheoesophageal fistula, Omphalocele, Int...	ORPHA:1199
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Cleft palate, Short distal phalanx of finger, Ventricular se...	OMIM:601355
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Primum atrial septal defect, Recurrent pneumonia, Right ve...	ORPHA:1329
Brachydactyly, Type B1	Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camp...	OMIM:113000
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Omphalocele, Intestinal malrotation, Short sternum, Malar flatte...	OMIM:222448
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis, Diffuse palmoplantar hyperkeratosis	ORPHA:86918
Chromosome 15Q26-Qter Deletion Syndrome	Short stature, Micrognathia, Short middle phalanx of finger, Brachydactyly, Intrauterine growth r...	OMIM:612626
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Short ribs, Postaxial hand polydactyly, Micromelia, Short...	OMIM:241800
Bartsocas-Papas Syndrome 1	Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Inferiorly positioned umbilicus, Absent t...	OMIM:263650
Frank-Ter Haar Syndrome	Broad alveolar ridges, Short long bone, Wide mouth, Mitral valve prolapse, Patent foramen ovale, ...	OMIM:249420
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Intrauterine growth retardation, Abnormal heart morphology, Clinodactyly of the 5th finger, Cleft...	ORPHA:231147
Trisomy 4P	Abnormal palate morphology, Radial club hand, Abnormality of the dentition, Short stature, Campto...	ORPHA:1738
Acrocardiofacial Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Hallux valgus, Truncus arteriosus, Split hand,...	ORPHA:2008
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Pyloric stenosis, Overlappi...	OMIM:614262
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Cardiomyopathy, Death in infancy, Broad thumb, Wide mouth, Umbil...	ORPHA:373
Interstitial Pneumonitis, Desquamative, Familial	Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infections, Desquamative inters...	OMIM:263000
Short Stature-Wormian Bones-Dextrocardia Syndrome	Dextrocardia, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High...	ORPHA:2863
Insulin-Like Growth Factor I, Resistance To	Retrognathia, Radial deviation of finger, Sandal gap, Severe short stature, Intrauterine growth r...	OMIM:270450
Lowry-Maclean Syndrome	Intrauterine growth retardation, Abnormal heart morphology, Cleft palate, Delayed eruption of teeth	OMIM:600252
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Aortic valve stenosis, Syndactyly, Umbilical hernia, Bicu...	OMIM:618164
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Abnormal hip bone morphology, Proximal placement of thumb, Missi...	ORPHA:1488
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormal palate morphology, Abnormal tricuspid valve morphology, Inguinal hernia, Narrow mouth, C...	ORPHA:2412
Carpenter Syndrome	Polydactyly, Genu valgum, Patent ductus arteriosus, Finger syndactyly, Postaxial hand polydactyly...	ORPHA:65759
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Anomalous origin of left coronary artery from the pulmonary artery, Right aortic...	ORPHA:2326
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly of the 5th finge...	ORPHA:1519
Periventricular Nodular Heterotopia 7	1-4 toe syndactyly, Clinodactyly of the 5th finger, Talipes equinovarus, Dental crowding, 2-3 toe...	OMIM:617201
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc...	OMIM:618300
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Orofacial cleft, Large hands, Cleft upper lip	ORPHA:85287
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Clinodactyly of the 5th finger, Exaggerated cupid's bow, Wide mouth, Thick ve...	OMIM:618506
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus, Short stature, Cleft palate, Malar flattening, Smooth philtrum, Intrauterine ...	OMIM:611867
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
Carpenter Syndrome 2	Retrognathia, Broad thumb, Umbilical hernia, Long philtrum, Narrow palate, Transposition of the g...	OMIM:614976
Chromosome 15Q14 Deletion Syndrome	Short philtrum, Recurrent viral upper respiratory tract infections, Everted lower lip vermilion, ...	OMIM:616898
Verheij Syndrome	Retrognathia, Truncus arteriosus, Branchial cyst, Intrauterine growth retardation, Short stature,...	OMIM:615583
Brachydactyly-Preaxial Hallux Varus Syndrome	Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Mi...	ORPHA:1278
Alg9-Cdg	Narrow greater sciatic notch, Short long bone, Abnormal heart morphology, Bifid uvula, Wide mouth...	ORPHA:79328
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Short long bone, Tooth agenesis, Coxa valga, Inguinal hernia, Small epiphyses, Short stature, Car...	OMIM:618363
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Retrognathia, Radial deviation of finger, Temporomandibular join...	OMIM:154400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flared metaphysis, Short ribs, Pleural effusion, Intrauterine growth retardation, Hypertrophic ca...	OMIM:616897
Orofaciodigital Syndrome Xiv	Supernumerary tooth, Occipital encephalocele, Aplasia of the epiglottis, Preaxial polydactyly, Sh...	OMIM:615948
Cholestasis, Progressive Familial Intrahepatic, 10	Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia...	OMIM:619868
Hereditary Bullous Dystrophy, Macular Type	Short finger, Short stature, Growth delay, Abnormal heart morphology, Acrocyanosis, Pneumonia, Ta...	ORPHA:1867
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at...	OMIM:606217
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Long philtrum, Genu valgum, Clinodactyly of the 5th finger, Mandibular prognathia, Prominent fing...	OMIM:619721
Oculofaciocardiodental Syndrome	Solitary median maxillary central incisor, Flexion contracture of the 2nd toe, Flexion contractur...	ORPHA:2712
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Sandal gap, Repeated pneumothoraces, Dental crowding, Intestinal...	OMIM:617602
Meckel Syndrome, Type 8	Polydactyly, Occipital encephalocele, Encephalocele, Pericardial effusion, Cleft upper lip, Cleft...	OMIM:613885
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short ribs, Flat acetabular roof, Short long bone, Microdontia, Mesomelia, Syndactyly, Short dist...	OMIM:614091
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Micrognathia, Cleft palate, Preaxial foot...	OMIM:614120
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad 2nd toe, Everted lower lip vermilion, Wide mouth, Umbilical hernia, Clinodactyly, Transposi...	OMIM:280000
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Right atrial enlargement, Hyp...	ORPHA:439
Orofaciodigital Syndrome Iv	Short finger, Tongue nodules, High palate, Short stature, Foot polydactyly, Micrognathia, Cleft p...	OMIM:258860
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Disproportionate short-...	ORPHA:1507
Holoprosencephaly	Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Tooth agenesis, Broad...	ORPHA:2162
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Postaxial hand polydactyly, Bowing of the...	OMIM:611134
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl...	ORPHA:3320
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Warsaw Breakage Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-...	OMIM:613398
Coffin-Siris Syndrome 3	Central diaphragmatic hernia, Inguinal hernia, High palate, Short stature, Abnormal heart morphol...	OMIM:614608
Iniencephaly	Congenital diaphragmatic hernia, Orofacial cleft, Rocker bottom foot, Rhizomelia, Anencephaly, En...	ORPHA:63259
Orofaciodigital Syndrome V	Aganglionic megacolon, Sandal gap, High palate, Postaxial hand polydactyly, Ankyloglossia, Postax...	OMIM:174300
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Broad distal phalanx of finger, 2-3 toe syndactyly, Abnormal oral frenulum...	ORPHA:404440
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Absent...	OMIM:134780
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis, Hypertrophic cardiomyopathy	ORPHA:91130
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Pulmonary artery atresia, Death in childhood, Left superior vena cava ...	OMIM:613759
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Jackson-Weiss Syndrome	Abnormal palate morphology, Abnormal fibula morphology, Short metatarsal, Mandibular prognathia, ...	ORPHA:1540
Braddock-Carey Syndrome 1	Anteriorly placed anus, Talipes equinovarus, Everted lower lip vermilion, Camptodactyly, Growth d...	OMIM:619980
Grange Syndrome	Short palm, Syndactyly, Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Hypothyroidism, Congenital, Nongoitrous, 4	Umbilical hernia, Macroglossia, Severe postnatal growth retardation, Omphalocele	OMIM:275100
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Decreased circulating carnitine concentration, Abnormal circulating acylcarnitine concentration, ...	ORPHA:71212
Noonan Syndrome 12	Proximal placement of thumb, 11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect, An...	OMIM:618624
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Clinodactyly of the 5th finger, Camptodactyly, Pulmonic stenosis, ...	OMIM:619123
Polysyndactyly With Cardiac Malformation	Stillbirth, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Atrial septa...	OMIM:263630
Congenital Heart Block	Patent foramen ovale, Pleural effusion, Pericardial effusion, Patent ductus arteriosus, Intrauter...	ORPHA:60041
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Anal atresia, Death in infanc...	OMIM:613390
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Postnatal growth retardation, Polydactyly, Clinodactyly of the 5th finger, Dental crowding, High ...	ORPHA:231140
Rhizomelic Syndrome	Rhizomelia, Pulmonic stenosis, Short stature, Micrognathia, Bifid distal phalanx of the thumb, Co...	OMIM:268250
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Williams Syndrome	Abnormal carotid artery morphology, Everted lower lip vermilion, Tracheoesophageal fistula, Micro...	ORPHA:904
Omphalocele	Omphalocele	ORPHA:660
Ritscher-Schinzel Syndrome 2	Postnatal growth retardation, Clinodactyly of the 5th finger, Short philtrum, Prominent fingertip...	OMIM:300963
Coffin-Siris Syndrome 2	Long philtrum, Thick lower lip vermilion, Inguinal hernia, Delayed eruption of teeth, Short philt...	OMIM:614607
Hadziselimovic Syndrome	Thick lower lip vermilion, Ventricular hypertrophy, Pulmonary artery atresia, High palate, Anal a...	OMIM:612946
Tetrasomy 5P	Postnatal growth retardation, Long philtrum, Clinodactyly of the 5th finger, Short hallux, Hydroc...	ORPHA:3309
Li-Campeau Syndrome	Patellar hypoplasia, Single transverse palmar crease, Patent foramen ovale, Short stature, Patent...	OMIM:619189
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ...	ORPHA:2919
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Trisomy 13	Abnormal lung lobation, Long philtrum, High, narrow palate, Bilateral single transverse palmar cr...	ORPHA:3378
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Recurrent lower respiratory tract in...	OMIM:620570
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Retrognathia, High, narrow palate, Atrioventricular canal defect...	ORPHA:2409
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
10Q22.3Q23.3 Microduplication Syndrome	Abnormality of the philtrum, Abnormality of the dentition, Abnormal rib morphology, Tetralogy of ...	ORPHA:276422
Dyssegmental Dysplasia, Silverman-Handmaker Type	Miscarriage, Short ribs, Short long bone, Hypoplastic ischia, Abnormal heart morphology, Severe s...	ORPHA:1865
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Meningocele, Short hard palate, Hydranencephaly, Glossoptosis, Po...	ORPHA:1393
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Split foot, Micrognathia, Cleft palate, Malar flattening, Toe syndactyly	OMIM:183700
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Disproportionate short-limb short stature, Abnormal rib morphology, Micromelia, Intrauterine grow...	ORPHA:2772
Diabetic Embryopathy	Transposition of the great arteries, Hydrocephalus, Abnormal aortic morphology, Micrognathia, Cle...	ORPHA:1926
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Death in childhood, Flexion contracture of toe, Short philtrum, Flared metaph...	OMIM:610758
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Abnormality...	ORPHA:40366
Galloway-Mowat Syndrome 7	Cubitus valgus, Hallux valgus, Single transverse palmar crease, High palate, Short stature, Arach...	OMIM:618348
Restrictive Dermopathy 2	Rectal prolapse, Short clavicles, Overtubulated long bones, Hypoplastic facial bones, Microretrog...	OMIM:619793
Abruzzo-Erickson Syndrome	Abnormal palate morphology, Short stature, Cleft palate, Short toe, Malar flattening, Brachydacty...	ORPHA:921
Loeys-Dietz Syndrome 2	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:610168
Ellis Van Creveld Syndrome	Microdontia, Abnormal oral frenulum morphology, Short distal phalanx of finger, Intrauterine grow...	ORPHA:289
Atrioventricular Septal Defect 5	Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart	OMIM:614474
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Orofacial cleft, Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus, ...	OMIM:615630
Inverted Duplicated Chromosome 15 Syndrome	Clinodactyly of the 5th finger, Short philtrum, 2-3 toe syndactyly, High palate, Ventricular sept...	ORPHA:3306
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Hypoplasia of the maxilla, Short stature, Micrognathia, Cleft palate, Ma...	ORPHA:79113
Distal 22Q11.2 Microdeletion Syndrome	Sandal gap, Arachnodactyly, Intrauterine growth retardation, Short distal phalanx of finger, Coxa...	ORPHA:261330
Isotretinoin-Like Syndrome	Postnatal growth retardation, Abnormal aortic arch morphology, Inguinal hernia, Abnormal cardiac ...	ORPHA:2306
Temtamy Preaxial Brachydactyly Syndrome	Radial deviation of finger, Clinodactyly of the 2nd finger, Microdontia, Abnormal spaced incisors...	ORPHA:363417
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Abnormal cardiac septum...	OMIM:308050
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Disproportionate shor...	OMIM:184250
Nephrotic Syndrome, Type 11	High palate, Arachnodactyly, Micrognathia, Cleft palate, Partial duplication of thumb phalanx, Sm...	OMIM:616730
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Postnatal growth retardation, Retrognathia, Clinodactyly of the 5th toe, Clinodactyly of the 5th ...	OMIM:620113
Velocardiofacial Syndrome	Retrognathia, Right aortic arch with mirror image branching, Abnormality of the hand, Inguinal he...	OMIM:192430
Microphthalmia, Syndromic 2	Sandal gap, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve prolapse, Umbilic...	OMIM:300166
German Syndrome	Orofacial cleft, High palate, Everted lower lip vermilion, Short stature, Camptodactyly of finger...	ORPHA:2077
Emanuel Syndrome	Congenital diaphragmatic hernia, Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Intes...	OMIM:609029
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Ectopic anus, Anal atresia, Abnormal rib morphology, Spina bifida, ...	ORPHA:2345
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Craniorachischisis	Congenital diaphragmatic hernia, Sirenomelia, Anencephaly, Bifid sternum, Anal atresia, Omphaloce...	ORPHA:63260
Distal Deletion 3P	Thin vermilion border, Atrioventricular canal defect, Clinodactyly of the 5th finger, Inguinal he...	ORPHA:1620
Charge Syndrome	Delayed puberty, Tracheoesophageal fistula, Umbilical hernia, Intrauterine growth retardation, Bi...	ORPHA:138
Congenital Heart Defects And Ectodermal Dysplasia	2-3 toe cutaneous syndactyly, Atrioventricular canal defect, Widely spaced teeth, Microdontia, Br...	OMIM:617364
Absence Of The Pulmonary Artery	Pulmonary edema, Recurrent respiratory infections, Patent foramen ovale, Truncus arteriosus, Abno...	ORPHA:980
Emanuel Syndrome	Congenital diaphragmatic hernia, Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Bifid...	ORPHA:96170
Mandibulofacial Dysostosis, Guion-Almeida Type	Esophageal atresia, Proximal placement of thumb, Slender finger, Short stature, Micrognathia, Cle...	OMIM:610536
Multiple Pterygium Syndrome, X-Linked	Hypoplastic heart, Short finger, Thin ribs, Cleft upper lip, Micrognathia, Cleft palate, Pulmonar...	OMIM:312150
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar cre...	ORPHA:2437
Silver-Russell Syndrome Due To A Point Mutation	Postnatal growth retardation, Polydactyly, Small placenta, Clinodactyly of the 5th finger, Inguin...	ORPHA:397590
Oculoauriculofrontonasal Syndrome	Encephalocele, Narrow mouth, Micrognathia, Cleft palate, Broad philtrum, Pericallosal lipoma, Cle...	ORPHA:398156
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate	OMIM:612913
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Inguinal hernia, Dental crowding, Patent foramen ovale, Atrophic scars, High palate, Narrow mouth...	OMIM:615539
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger,...	OMIM:618870
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Inguinal hernia, Meningocele, Spina bifida occulta, Finger synda...	ORPHA:2311
Bardet-Biedl Syndrome 16	Short stature, Recurrent respiratory infections, Bronchiolitis, Polydactyly	OMIM:615993
Atelosteogenesis, Type Ii	Stillbirth, Sandal gap, Short greater sciatic notch, Bifid humerus, Hitchhiker thumb, Flat acetab...	OMIM:256050
Xk Aprosencephaly Syndrome	Narrow mouth, Anal atresia, Atrial septal defect, Ventricular septal defect, Abnormal morphology ...	ORPHA:3469
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Short stature, Growth delay, Patent ductus arteriosus, Double outlet right ventric...	OMIM:614886
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Non-midline cleft of the upper lip, Abnormality of th...	ORPHA:1770
Skraban-Deardorff Syndrome	Absent cupid's bow, Widely spaced teeth, Right aortic arch, Micrognathia, Cleft palate, Thick upp...	OMIM:617616
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Wide mouth, Constricted iliac wing, Large elbow, Coxa valga, Inguinal hernia...	OMIM:253000
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Solitary median maxillary central incisor, Duodenal atresia, Alobar ...	OMIM:301043
Viss Syndrome	Rocker bottom foot, Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tort...	OMIM:619472
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Frank-Ter Haar Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Inguinal hernia, Delayed eruption...	ORPHA:137834
Congenital Pulmonary Lymphangiectasia	Chylopericardium, Pleural effusion, Pulmonic stenosis, Growth delay, Cyanosis	ORPHA:2414
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Abnormality of the hand, Widely spaced teeth, Patent foramen ovale, Arthrogryposis-like hand anom...	ORPHA:369891
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Clinodactyly of the 5th finger, Bilateral cleft palate, Abnormal aortic morphology, Intestinal ma...	ORPHA:2001
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Abs...	OMIM:274000
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Cyanosis, Abnormal tricuspid valve annulus morphology, Patent foramen o...	ORPHA:555874
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Midclavicular aplasia, Short ribs, Short metacarpal, Myelomening...	OMIM:305600
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Diastrophic Dysplasia	Neonatal short-limb short stature, Short finger, Abnormal metaphysis morphology, Proximal placeme...	ORPHA:628
Li-Ghorbani-Weisz-Hubshman Syndrome	Clinodactyly of the 5th finger, Downturned corners of mouth, Thick vermilion border, Patent ductu...	OMIM:618974
Adams-Oliver Syndrome 6	Esophageal varix, Truncus arteriosus, Cutis marmorata, Foot oligodactyly, Syndactyly, Brachydacty...	OMIM:616589
Global Developmental Delay With Or Without Impaired Intellectual Development	Oligodontia, Pulmonary sequestration, Short stature, Patent ductus arteriosus, Atrial septal defe...	OMIM:618330
Criss-Cross Heart	Transposition of the great arteries, Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Abnormal mi...	ORPHA:1461
Polydactyly, Postaxial, Type A8	Short stature, Genu valgum, Postaxial polydactyly	OMIM:618123
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Weill-Marchesani Syndrome	Pulmonic stenosis, Aortic valve stenosis, Short stature, Short thumb, Brachydactyly, Ventricular ...	ORPHA:3449
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Zechi-Ceide Syndrome	Thin vermilion border, Short metatarsal, Short philtrum, Sandal gap, Mandibular prognathia, Oligo...	ORPHA:217017
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Single transverse palmar crease, Incisor macrodontia, Narrow mouth, Short ...	OMIM:615502
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ...	OMIM:607941
Trigonocephaly 1	Meckel diverticulum, Long philtrum, High, narrow palate, Omphalocele	OMIM:190440
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Non-midline cleft of the upper lip, Postaxial han...	ORPHA:2075
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Retrognathia, Descending thoracic aorta aneurysm, Abnormality of connective tissue, Arachnodactyl...	ORPHA:91387
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Pulmonic stenosis...	OMIM:601186
Kabuki Syndrome 2	Postnatal growth retardation, Atrioventricular canal defect, Dental malocclusion, Prominent finge...	OMIM:300867
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Inguinal hernia, Abnormal finger morphology, Glossoptosis, Wrist flexion con...	ORPHA:436003
Congenital Sialidosis Type 2	Polydactyly, Inguinal hernia, Hydrocephalus, Petechiae, Gingival overgrowth, Protruding tongue, A...	ORPHA:93400
8Q12 Microduplication Syndrome	Narrow mouth, Everted lower lip vermilion, Long philtrum, Atrial septal defect, Ventricular septa...	ORPHA:228399
Short Stature-Micrognathia Syndrome	Retrognathia, Rhizomelia, 2-3 toe syndactyly, High palate, Short stature, Broad femoral neck, Mic...	OMIM:617164
ERI1-related disease	Limited elbow extension, Clinodactyly of the 5th finger, Inguinal hernia, Dislocated radial head,...	OMIM:608739
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Hyperextensibility of the finger joints, High palate, Intrauterine growth retardati...	ORPHA:505237
Isolated Dandy-Walker Malformation	Cleft palate, Tetralogy of Fallot, Encephalocele	ORPHA:217
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Atrioventricular canal defect, Short first ...	OMIM:619135
Biemond Syndrome Ii	Hydrocephalus, Preaxial hand polydactyly, Short stature	OMIM:210350
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Hydrocephalus, Esophageal varix, Death in infancy, Growth delay, Enamel hypoplasia,...	OMIM:614576
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Dental crowding, Umbilical hernia, Telangiectasia, Hydrocephalus, Patent fora...	OMIM:612582
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Sandal gap, Ventricular hypertrophy, Short stature, Tetralogy of...	OMIM:300887
Short Stature And Facioauriculothoracic Malformations	High palate, Proportionate short stature, Cleft upper lip, Cleft palate, Cervical ribs, Ventricul...	OMIM:609654
Contractural Arachnodactyly, Congenital	Wrist flexion contracture, Congenital finger flexion contractures, Arachnodactyly, Mitral valve p...	OMIM:121050
Jansen-De Vries Syndrome	Central diaphragmatic hernia, Short stature, Thin upper lip vermilion, Wide mouth, Brachydactyly,...	OMIM:617450
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperammonemia, Increased C-peptide level, Hypercholesterolemia	OMIM:620211
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Retrognathia, High palate, Intrauterine growth retardation, Tapered finger, Short stature, Broad ...	OMIM:617452
Developmental And Epileptic Encephalopathy 89	Death in childhood, Omphalocele, Cleft palate, Limb undergrowth, Flexion contracture, Microretrog...	OMIM:619124
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Short stature, Micrognathia, ...	ORPHA:2145
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Intrauterine growth retardation, Ventricul...	OMIM:616276
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem...	OMIM:207750
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Omphalocele, Autosomal	Omphalocele	OMIM:164750
3Mc Syndrome 3	Tessier cleft, Preaxial polydactyly, Diastasis recti, Short stature, Cleft upper lip, Growth dela...	OMIM:248340
Timothy Syndrome	Pneumonia, Bronchitis, Patent foramen ovale, Microdontia, Cutaneous syndactyly, Tetralogy of Fall...	OMIM:601005
Diamond-Blackfan Anemia 21	Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Narrow mouth, Short stature, ...	OMIM:620072
Congenital Fibrinogen Deficiency	Cyanosis, Clubbing of fingers, Gingival bleeding, Volvulus, Right ventricular hypertrophy, Left v...	ORPHA:335
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli...	OMIM:183600
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ...	OMIM:617102
Bardet-Biedl Syndrome 17	Polydactyly, Situs inversus totalis, Dextrocardia, Mesoaxial polydactyly, Postaxial hand polydact...	OMIM:615994
Prune Belly Syndrome	Aplasia of the abdominal wall musculature, Intestinal atresia, Recurrent respiratory infections, ...	ORPHA:2970
Mosaic Trisomy 16	Large placenta, Meckel diverticulum, Single coronary artery origin, Single transverse palmar crea...	ORPHA:1708
Double Outlet Left Ventricle	Pulmonary valve atresia, Orofacial cleft, Double outlet left ventricle, Tricuspid atresia, Cyanos...	ORPHA:3427
Ehlers-Danlos Syndrome, Classic-Like, 2	Ventral hernia, Hammertoe, Inguinal hernia, Squared iliac bones, Aortic root aneurysm, Shoulder d...	OMIM:618000
Chromosome 5Q12 Deletion Syndrome	Postnatal growth retardation, Short philtrum, Long toe, Patent foramen ovale, Micrognathia, Long ...	OMIM:615668
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia...	ORPHA:26793
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Aortic valve stenosis, Bifid uvula, Umbilical he...	OMIM:601808
X-Linked Intellectual Disability, Nascimento Type	Thin vermilion border, Patent foramen ovale, Abnormal vena cava morphology, Bilateral talipes equ...	ORPHA:163956
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Interrupted ...	OMIM:206920
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Abnormal oral frenulum morphology, Mesomelia, Umbilical hernia, Long p...	ORPHA:2496
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Hydrocephalus, Halberd-shaped pel...	ORPHA:2635
Auriculocondylar Syndrome 2B	Postnatal growth retardation, Mandibular condyle hypoplasia, Narrow mouth, Omphalocele, Micrognathia	OMIM:620458
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Aortic valve stenosis, Wide mouth, Constricted iliac wing, Coxa valga, Ingui...	OMIM:253010
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Situs inversus totalis	OMIM:615985
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Pulmonary capillary hemangiomatosis, Clubbing of fingers, Abnormal pulmonary vei...	ORPHA:199241
Myhre Syndrome	Gingival cleft, Large iliac wing, Bifid uvula, Unilateral cleft lip, Severe short stature, Abnorm...	ORPHA:2588
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Triangular mouth, Inguinal hernia, Tapered finger, Epiphyseal dysplasia...	OMIM:607131
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Long philtrum, High, narrow palate, Overlapping fingers, Patent foramen ovale, Prominent fingerti...	OMIM:618494
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Single transverse palmar crease, Patent foramen ...	ORPHA:329224
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Johnson Neuroectodermal Syndrome	Everted lower lip vermilion, Carious teeth, Hand polydactyly, Cleft palate, Tetralogy of Fallot, ...	ORPHA:2316
Orofaciodigital Syndrome I	Radial deviation of finger, Myelomeningocele, Abnormal heart morphology, Syndactyly, Tongue nodul...	OMIM:311200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short philtrum, Hydrocephalus, Hypoplastic iliac wing, Thin ribs, Abnormality of the ...	ORPHA:163966
Congenital Tracheomalacia	Pneumothorax, Pneumonia, Cyanosis, Emphysema, Patent ductus arteriosus, Esophageal atresia, Right...	ORPHA:95430
Joubert Syndrome 14	Short philtrum, Encephalocele, Hydrocephalus, Meningocele, Growth delay, Postaxial polydactyly, C...	OMIM:614424
Loeys-Dietz Syndrome 5	Retrognathia, Flexion contracture of toe, Congenital finger flexion contractures, Arachnodactyly,...	OMIM:615582
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, 2-3 toe syndactyly, Narrow mouth, Cleft upper lip, Micrognathia, Abnormal heart mo...	OMIM:239800
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Dilation of Virchow-Robin spaces, Dental crowding, Intrauterine growth retardation, Long philtrum...	OMIM:300998
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Retrognathia, Hypoplastic iliac wing, Umbilical herni...	OMIM:235510
Cleidocranial Dysplasia	Glossoptosis, Sinusitis, Abnormal epiphysis morphology, Abnormal metacarpal morphology, Abnormali...	ORPHA:1452
Ehlers-Danlos Syndrome, Classic Type, 1	Recurrent lower respiratory tract infections, Inguinal hernia, Aortic root aneurysm, Bowel divert...	OMIM:130000
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal...	OMIM:601612
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level	OMIM:610768
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Death in childhood, Clubbing, Split hand, Growth delay, Cleft upper lip, Coarctation of aorta, Cl...	OMIM:600460
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular pattern on pulmonary HRCT, Clu...	ORPHA:2032
Trisomy 17P	Orofacial cleft, Clinodactyly of the 5th finger, Hydrocephalus, High palate, Narrow mouth, Tapere...	ORPHA:261290
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Clinodactyly of the 5th finger, Inguinal hernia, Pulmonary artery ...	OMIM:620568
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins, Amelia, Glossoptosis, Ankyloglossia, Microg...	OMIM:618021
Bardet-Biedl Syndrome 4	Polydactyly, Brachydactyly, Abnormality of the dentition, Syndactyly	OMIM:615982
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Short stature, Coarctation of aorta, Cleft palate, Recurrent respir...	OMIM:620210
19P13.3 Microduplication Syndrome	Hip subluxation, Short philtrum, Narrow mouth, Growth delay, Micrognathia, Cleft palate, Long fin...	ORPHA:447980
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Jaundice, Short stature, Patent ductus arteriosus, Abnormality of...	ORPHA:290
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Ecto...	ORPHA:2473
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Intestinal malrotation, Cutis marmorata, Syndactyly, Enamel agenesis, Long philtrum, Short statur...	OMIM:614701
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Long philtrum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Triphalangeal thumb, Gi...	OMIM:220500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ribs, Short lon...	OMIM:263520
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Cupped...	OMIM:271640
Stromme Syndrome	Stillbirth, Preaxial polydactyly, Hydrocephalus, Intestinal malrotation, Micrognathia, Cleft pala...	OMIM:243605
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Polydactyly, Abnormal tongue morphology, Downturned corners of mout...	ORPHA:531151
Kagami-Ogata Syndrome	Postnatal growth retardation, Large placenta, Inguinal hernia, Diastasis recti, Omphalocele, Coat...	ORPHA:254519
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol...	OMIM:610921
Multiple Pterygium Syndrome, Lethal Type	Hypoplastic heart, Short finger, Thin ribs, Micrognathia, Cleft palate, Pulmonary hypoplasia, Fle...	OMIM:253290
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
2Q31.1 Microdeletion Syndrome	Sandal gap, Everted lower lip vermilion, Long philtrum, Abnormal fibula morphology, Abnormal tibi...	ORPHA:251014
Mosaic Trisomy 9	Rocker bottom foot, Intestinal malrotation, Intrauterine growth retardation, Hip dislocation, Dee...	ORPHA:99776
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Clubbing, Death in infancy, Neonatal death, Interlobular...	OMIM:265120
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Widely spaced teeth, Short philtrum, Sandal gap, 3-4 finger cuta...	OMIM:612530
Kury-Isidor Syndrome	Rocker bottom foot, Widely spaced teeth, Proximal placement of thumb, Triangular mouth, Finger sy...	OMIM:619762
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Interrupted aortic arch, Growth delay, Micrognathia, Cleft p...	ORPHA:1727
Cohen Syndrome	Delayed puberty, Abnormal hip bone morphology, Sandal gap, Tooth agenesis, Arachnodactyly, Mitral...	ORPHA:193
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Clinodactyly of the 5th finger, Short philtrum, Sandal gap, Dental crowding, Oligod...	OMIM:617061
Filippi Syndrome	Bilateral single transverse palmar creases, Thin vermilion border, Clinodactyly of the 5th toe, C...	ORPHA:3255
Oculodentodigital Dysplasia	Broad alveolar ridges, Tooth agenesis, Umbilical hernia, Clinodactyly, Taurodontia, Carious teeth...	ORPHA:2710
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Hydrocephalus, Omphalocele, Bifid uvula, Cleft palate, Unilatera...	ORPHA:2736
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Long philtrum, Bicuspid aortic valve, Short 5th finger, Overlapping toe, Hip disloca...	ORPHA:508498
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly, Everted lower lip vermilion, Pulmonary artery stenosis, Short stature...	ORPHA:75389
Ververi-Brady Syndrome	Transposition of the great arteries, Clinodactyly of the 5th finger, High palate, Everted lower l...	OMIM:617982
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A...	OMIM:618719
Acute Interstitial Pneumonia	Atelectasis, Pleural effusion, Bronchiectasis, Pericardial effusion, Hypoxemia, Interlobular sept...	ORPHA:79126
Cat Eye Syndrome	Rectal fistula, Tricuspid atresia, Anal stenosis, Rectal atresia, Meckel diverticulum, Total anom...	OMIM:115470
Woods Syndrome	Limited elbow extension, Thin vermilion border, Single transverse palmar crease, 3-4 finger cutan...	OMIM:615236
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia,...	OMIM:615761
Schneckenbecken Dysplasia	Metaphyseal irregularity, Stillbirth, Disproportionate short-limb short stature, Snail-like ilia,...	OMIM:269250
Okamoto Syndrome	Polydactyly, Anal stenosis, Abnormal left ventricle morphology, Severe postnatal growth retardati...	ORPHA:2729
Multiple Epiphyseal Dysplasia Type 4	Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of the proxim...	ORPHA:93307
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Long philtrum, 10 pairs of rib...	OMIM:117650
Recombinant 8 Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Gingival overgrowth, ...	ORPHA:96167
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp...	OMIM:614078
Meacham Syndrome	Death in infancy, Bicuspid aortic valve, Congenital alveolar dysplasia, Transposition of the grea...	OMIM:608978
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, High palate, Aspiration pneumonia, Micrognathia, Recurrent pneumonia, Abnormal heart...	ORPHA:314655
Tetrasomy 15Q26	Hypoplastic aortic arch, Hydrocephalus, High palate, Camptodactyly, Arachnodactyly, Microretrogna...	OMIM:614846
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Sandal gap, Enlarged metaphyses, Dislocated radial head, Microdo...	OMIM:245600
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Frontometaphyseal Dysplasia 1	Limited elbow movement, Dislocated radial head, Wrist flexion contracture, Arachnodactyly, Increa...	OMIM:305620
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Cyanotic episode, Bilateral talipes equinovarus, Micrognathia, Limb jo...	ORPHA:284417
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Abnormal cerebral vascular morphology, Long philtrum, Cardiomegaly, Bicusp...	ORPHA:363705
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Single transverse palmar...	OMIM:244300
Pulmonary Arteriovenous Malformation	Ischemic stroke, Cyanosis, Bacterial endocarditis, Pleural empyema, Transient ischemic attack, Cl...	ORPHA:2038
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, Broad thumb, Sh...	OMIM:620073
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelia, Inguinal hernia, Epiphyseal stippling, High palate, Stippled calcification proximal h...	OMIM:222765
19Q13.11 Microdeletion Syndrome	Retrognathia, Thin vermilion border, Solitary median maxillary central incisor, Clinodactyly of t...	ORPHA:217346
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot...	OMIM:614980
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Polydactyly, Clinodactyly of the 5th finger, Short philtrum, Sho...	OMIM:301022
Fanconi Anemia, Complementation Group B	Abnormal lung lobation, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Death in in...	OMIM:300514
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Aplasia/Hypoplasia o...	ORPHA:2839
Caudal Duplication	Intestinal duplication, Spina bifida, Myelomeningocele, Omphalocele	ORPHA:1756
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Inguinal hernia, Pancreatic lymphangiectasis, High palate, Postaxial ...	OMIM:235255
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Thick lower lip vermilion, Clinodactyly of the 5th finger, Joint contracture of the 5th finger, G...	OMIM:614407
C Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Bilateral single transverse palmar crease...	ORPHA:1308
Wolcott-Rallison Syndrome	Jaundice, Short stature, Growth delay, Metaphyseal dysplasia, Double outlet right ventricle, Atri...	ORPHA:1667
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Hypoplasia of the maxilla, Short stature, Cleft palate, Right ventricular h...	OMIM:614261
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short philtrum, Inguinal hernia, Abnormality of the dentition, Short stature, Cleft palate, Smoot...	ORPHA:261190
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Thin vermilion border, Dextrocardia, Ventricula...	ORPHA:96097
Diprosopus	Non-midline cleft of the upper lip, Cleft palate, Anencephaly, Abnormal cardiac septum morphology	ORPHA:1681
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Single transverse palmar crease, Short stature, Carious teeth, Micrognathia...	OMIM:101805
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Short philtrum, Vaginal hernia, Hypoplasia of ...	ORPHA:96129
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Umbilical hernia, Recurrent pneumonia, Abnormal heart morphology, Open mout...	ORPHA:500159
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Atelectasis, Dextrocardia, Bronchiectasis, Aortic valve stenosis, Pulmona...	OMIM:615067
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Retrognathia, Fibular hypoplasia, Hypoplasia of the radius, Single transv...	OMIM:227270
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Postaxial polydactyly, Vascular ring, Knee flexion contracture, Atrial septal defe...	OMIM:603387
Isolated Anencephaly	Congenital diaphragmatic hernia, Cleft lip, Intrauterine growth retardation, Omphalocele	ORPHA:563609
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Clinodactyly of the 5th finger, Dextrocardia, Everted lower lip vermilion, D...	OMIM:618067
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Cardiac rhabdomyoma, Palmar pits, Odontogenic keratocysts of t...	OMIM:109400
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Tooth agenesis, Mesomelia, Wide mou...	ORPHA:818
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, 11 pairs of ribs, Dental crowding, Patent foramen ovale, Oligodonti...	OMIM:619184
Marden-Walker Syndrome	Postnatal growth retardation, High, narrow palate, Dextrocardia, Inguinal hernia, High palate, Na...	OMIM:248700
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Microdontia, Pulmonic stenosis, Cutis marmor...	OMIM:610759
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Dextrocardia, Inguinal hernia, Coronary a...	OMIM:614294
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow...	ORPHA:1106
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Short first metatarsal, Proximal placement of thumb, Short hallux...	ORPHA:2438
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Ventricular hypertrophy, Aortic tortuosity, Aortic valve stenosi...	OMIM:208050
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Everted lower lip vermilion, Contracture of the proximal interphalangeal joint of t...	ORPHA:464738
Robinow Syndrome	Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Pulmonic stenosis, Abnormal hea...	ORPHA:97360
Retinitis Pigmentosa 89	Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly	OMIM:618955
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Atrioventricular canal defect, Aplasia of the epiglottis, Short clavicles, S...	OMIM:617088
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Short philtrum, Dental crowding, Ascending tubular aorta aneurysm, Hyperextensibility of the fing...	OMIM:309520
Aortic Arch Interruption	Transposition of the great arteries, Cyanosis, Patent ductus arteriosus, Aortic valve atresia, Ao...	ORPHA:2299
Chromosome 19Q13.11 Deletion Syndrome, Distal	Postnatal growth retardation, Retrognathia, Thin vermilion border, Solitary median maxillary cent...	OMIM:613026
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Meckel diverticulum, Pulmonary sequestration, Aplasia of the lef...	ORPHA:2847
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Pulmonic sten...	OMIM:618223
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Inguinal hernia, Joint contracture of the 5th finger, Sandal gap, Patent foramen ov...	OMIM:618914
Limb Body Wall Complex	Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Anencepha...	ORPHA:2369
Codas Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Short metacarpal, Abnormal pelvic g...	ORPHA:1458
Cranioectodermal Dysplasia 2	Retrognathia, Short ribs, Everted lower lip vermilion, Microdontia, Mesomelia, Syndactyly, Broad ...	OMIM:613610
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho...	ORPHA:2378
Alagille Syndrome	Hypoplasia of the ulna, Delayed puberty, Clinodactyly of the 5th finger, Short philtrum, Spina bi...	ORPHA:52
Myoectodermal Gonadal Dysgenesis Syndrome	Limited elbow extension, Thin vermilion border, Hypodontia, Single transverse palmar crease, Bifi...	OMIM:618419
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Fragile skin, Camptodactyl...	ORPHA:158687
Marbach-Rustad Progeroid Syndrome	Femur fracture, Ventricular septal hypertrophy, Short clavicles, Eruption failure, Narrow mouth, ...	OMIM:619322
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormal lung lobation, Congenital diaphragmatic hernia, Narrow palate, Abnormal palate morpholog...	ORPHA:2063
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand polydactyly	ORPHA:2091
Loeys-Dietz Syndrome 4	Retrognathia, Arterial tortuosity, Aortic tortuosity, Arachnodactyly, Bifid uvula, Mitral valve p...	OMIM:614816
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Short distal phalanx of toe, Short stature, Abno...	ORPHA:1292
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Umbilical hernia, Recurrent pneumonia, Patent duct...	OMIM:619769
De Barsy Syndrome	Umbilical hernia, Intrauterine growth retardation, Adducted thumb, Small, conical teeth, Excessiv...	ORPHA:2962
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Dislocated radial head, Cutis marmo...	OMIM:122470
Mosaic Variegated Aneuploidy Syndrome 2	Abnormal lung lobation, Rhizomelia, Clinodactyly of the 5th finger, Single transverse palmar crea...	OMIM:614114
Classical-Like Ehlers-Danlos Syndrome Type 2	Sandal gap, Arachnodactyly, Equinus calcaneus, Abnormal toe morphology, Mitral valve prolapse, Um...	ORPHA:536532
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Neonatal short-limb short stature, Narrow greater sciatic notch, Encephalocele, Hydrocephalus, Sh...	OMIM:224400
Bohring-Opitz Syndrome	Retrognathia, Dislocated radial head, Broad alveolar ridges, Bilateral cleft palate, Intestinal m...	OMIM:605039
Acropectorovertebral Dysplasia	High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car...	ORPHA:957
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Swollen lip, Intrauterine growth retardation, Cli...	OMIM:256520
1Q21.1 Microdeletion Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Interrupted aortic arch, Hydrocephalus, High pal...	ORPHA:250989
Diamond-Blackfan Anemia 7	Triphalangeal thumb, Esophagitis, Growth delay, Secundum atrial septal defect, Tetralogy of Fallo...	OMIM:612562
Loeys-Dietz Syndrome 1	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:609192
Ogden Syndrome	Postnatal growth retardation, Everted upper lip vermilion, High, narrow palate, Inguinal hernia, ...	ORPHA:276432
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia	OMIM:612526
Stankiewicz-Isidor Syndrome	Retrognathia, 2-3 toe syndactyly, Truncus arteriosus, Micrognathia, Absent thumb, Short thumb, Pa...	OMIM:617516
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Long philtrum, Intraut...	OMIM:608670
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormal palate morphology, Bilateral single transverse palmar creases, Clinodacty...	ORPHA:1786
Fadd-Related Immunodeficiency	Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Tyshchenko Syndrome	Narrow palate, High, narrow palate, High palate, Pulmonic stenosis, Short stature, Cleft palate, ...	OMIM:615102
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Short philtrum, Interrupted aortic arch, Narrow iliac wing, Hypop...	OMIM:300712
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Delayed pubic bone ossific...	ORPHA:1856
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Tapered finger, Flexion contracture, Patent ductus arteriosus, Atrial sept...	OMIM:613870
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Triphalangeal thumb, Severe postnatal growth retardation, Ventricular septal ...	ORPHA:3078
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Bilateral single transverse palmar creases, Widely spaced teeth, Inguinal hernia, Hydrocephalus, ...	ORPHA:459061
Neurooculocardiogenitourinary Syndrome	Abnormality of the palmar creases, Patent foramen ovale, Downturned corners of mouth, Smooth phil...	OMIM:618652
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplasti...	OMIM:180849
Joubert Syndrome 17	Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Neoplasm of the heart, Intestinal malrotation, Omphalocele, Death in infancy, Umbilic...	ORPHA:2241
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
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Microcolon, Pulmonic stenosis, Intestinal malrotation, Umbilical...	OMIM:600001
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metac...	ORPHA:3138
Cloacal Exstrophy	Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Intestinal duplication, Anal ...	ORPHA:93929
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Hypoplastic pubic ramus, Arachnodactyly, Intrauterine growth ret...	ORPHA:280
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Flared metaphysis, Mesomelic/rhizomelic limb shortening, Short ribs,...	ORPHA:2347
Braddock Syndrome	Missing ribs, Short stature, Micrognathia, Pulmonary fibrosis, Intrauterine growth retardation, P...	ORPHA:52047
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho...	ORPHA:79500
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Short metacarpal, Broad metatarsal, Pulmonic stenosis, Aortic valve s...	OMIM:608328
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Everted lower lip vermilion, Aortic valve stenosis, Intestinal m...	OMIM:601803
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Intestinal malrotation, Short stature, Downturned corners of mouth, Cleft palate, Growth delay, M...	ORPHA:457193
Intellectual Developmental Disorder, Autosomal Dominant 66	Transposition of the great arteries, Clinodactyly of the 5th finger, Aortic root aneurysm, Toe cl...	OMIM:619910
Atelosteogenesis Type Ii	Sandal gap, Bilateral cleft palate, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-sha...	ORPHA:56304
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Short philtrum, Aortic root aneurysm, Camptodactyly, Arachnodactyly, Open mouth, Atrial septal de...	OMIM:301039
Weill-Marchesani Syndrome 1	Narrow palate, Broad phalanges of the hand, Tooth malposition, Broad metacarpals, Broad metatarsa...	OMIM:277600
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Stillbirth, Patellar hypoplasia, Median cleft palate, Absent tibia, Short stature, Bilateral tali...	OMIM:119800
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly, Recurrent respiratory infections, Horizont...	OMIM:615633
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Semilobar holoprosencephaly, Perimembranous ventricular septal d...	OMIM:618651
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Inguinal hernia, Abnormal vena cava morphology, Short metacarpal, Short stature, Micrognathia, Br...	ORPHA:166035
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Microdontia, Overlapping toe, Clinodactyly o...	ORPHA:221120
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Camptodactyly, Postaxial polyda...	OMIM:614175
Sifrim-Hitz-Weiss Syndrome	Short clavicles, Flat acetabular roof, Short stature, Coarctation of aorta, Bifid uvula, Tetralog...	OMIM:617159
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Opitz-Kaveggia Syndrome	Radial deviation of finger, Dental crowding, Prominent fingertip pads, Intestinal malrotation, Br...	OMIM:305450
Dysosteosclerosis	Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal de...	ORPHA:1782
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Overlapping toe, Advanced eruption ...	OMIM:619148
Coffin-Siris Syndrome 7	Thick lower lip vermilion, Clinodactyly of the 5th finger, Short philtrum, Patent foramen ovale, ...	OMIM:618027
Congenital Disorder Of Glycosylation, Type Iio	Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype...	OMIM:616828
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ...	OMIM:147891
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc...	OMIM:602418
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent...	ORPHA:251028
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Broad thumb, Mesomelia, Wide mouth, Umbilical hernia, Long philtrum, Short dista...	OMIM:616331
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pulmonic stenosis, Ename...	OMIM:212780
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Clinodactyly of the 5th finger, Inguinal hernia, Tapered distal phalan...	OMIM:620545
Loeys-Dietz Syndrome 6	Congenital diaphragmatic hernia, Arterial tortuosity, Ventricular hypertrophy, Aortic tortuosity,...	OMIM:619656
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Abnormal palate morphology, Genu valgum, Tetralogy of Fallot, Anal atresia	ORPHA:1381
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Oligodactyly, Narrow mouth, Missing ribs, Micromelia, Forearm undergrowth, H...	OMIM:251230
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Short stature, Dextrotransposition of the great arteries, Brachydactyly, Ventricular...	OMIM:619995
Gm1-Gangliosidosis, Type I	Angiokeratoma corporis diffusum, Inguinal hernia, Abnormal heart valve morphology, Gingival overg...	OMIM:230500
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Spina bifida occulta, Delayed ...	ORPHA:2780
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Broad thumb, Micrognathia, Smooth philtrum, Brachydactyly,...	OMIM:614526
Down Syndrome	Delayed puberty, Bilateral single transverse palmar creases, Sandal gap, Microdontia, Umbilical h...	ORPHA:870
Holoprosencephaly 14	Aqueductal stenosis, Aortic valve atresia, Hydrocephalus, Alobar holoprosencephaly, Cleft palate,...	OMIM:619895
Lateral Meningocele Syndrome	Long philtrum, Patent ductus arteriosus, Inguinal hernia, Aortic aneurysm, Meningocele, Dental cr...	OMIM:130720
Rabson-Mendenhall Syndrome	Polydactyly, Premature graying of hair, Advanced eruption of teeth, Severe postnatal growth retar...	ORPHA:769
Arterial Tortuosity Syndrome	Abnormal carotid artery morphology, Rocker bottom foot, Arachnodactyly, Coxa valga, Hip dislocati...	ORPHA:3342
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Microdontia, Aplasia/Hypoplasia of the phalanges...	ORPHA:3474
Autosomal Recessive Multiple Pterygium Syndrome	Orofacial cleft, Abnormal aortic valve morphology, Inguinal hernia, Aortic aneurysm, Spina bifida...	ORPHA:2990
Arthrogryposis, Distal, Type 3	Cutaneous finger syndactyly, Single transverse palmar crease, High palate, Ulnar deviation of the...	OMIM:114300
Seckel Syndrome 9	Congenital diaphragmatic hernia, Recurrent respiratory infections, Pulmonary artery hypoplasia, S...	OMIM:616777
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele	OMIM:213010
Distal Triplication 15Q	Retrognathia, Hypoplastic aortic arch, Hydrocephalus, High palate, Camptodactyly, Arachnodactyly,...	ORPHA:314588
Seckel Syndrome 1	Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr...	OMIM:210600
Keutel Syndrome	Pulmonary artery stenosis, Short stature, Recurrent sinusitis, Short distal phalanx of finger, Re...	ORPHA:85202
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ...	OMIM:610913
Agnathia-Otocephaly Complex	Situs inversus totalis, Narrow mouth, Mandibular aplasia, Micrognathia, Secundum atrial septal de...	OMIM:202650
15Q11.2 Microdeletion Syndrome	Abnormal palate morphology, Total anomalous pulmonary venous return, Coarctation of aorta, Abnorm...	ORPHA:261183
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Dental crowding, Ventricular hypertrophy, Pulmonic stenosis, Syndactyly, Umbilical ...	OMIM:620654
Jacobsen Syndrome	Death in infancy, Aortic valve stenosis, Intestinal malrotation, Abnormality of the anus, Long ph...	ORPHA:2308
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Patent ductus arteriosus, Atrial...	ORPHA:2519
Atelosteogenesis, Type Iii	Widened distal phalanges, Rhizomelia, Tombstone-shaped proximal phalanges, Sandal gap, Hitchhiker...	OMIM:108721
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Recurrent respiratory infections, Tapered finger, Abnormality of the dentition, Anal atresia, Sho...	OMIM:300968
Atelis Syndrome 1	Long philtrum, High palate, Carious teeth, Bronchiectasis, Atrial septal defect, Ventricular sept...	OMIM:620184
Chromosome 15Q11.2 Deletion Syndrome	Short finger, Single transverse palmar crease, Irregular dentition, Short stature, Arachnodactyly...	OMIM:615656
19P13.12 Microdeletion Syndrome	Thin vermilion border, Deep palmar crease, Clinodactyly of the 5th finger, Sandal gap, Hypodontia...	ORPHA:254346
Syngap1-Related Developmental And Epileptic Encephalopathy	Thin vermilion border, Cutaneous photosensitivity, Narrow mouth, High palate, Postaxial polydacty...	ORPHA:544254
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Inguinal hernia, Short philtrum, Single transverse palmar crease, 2-3 toe syndactyl...	OMIM:616449
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Microcephaly 30, Primary, Autosomal Recessive	Clinodactyly of the 5th finger, Cleft soft palate, Inguinal hernia, Pierre-Robin sequence, Secund...	OMIM:620183
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Cardiac-Valvular Ehlers-Danlos Syndrome	Genu valgum, Inguinal hernia, Sandal gap, Aortic root aneurysm, Abnormal heart valve morphology, ...	ORPHA:230851
Neurocardiofaciodigital Syndrome	Polydactyly, Retrognathia, Thin vermilion border, Double inlet left ventricle, High palate, Short...	OMIM:619869
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Serkal Syndrome	Congenital diaphragmatic hernia, Orofacial cleft, Pulmonic stenosis, Growth delay, Pulmonary hypo...	ORPHA:139466
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Internally rotated shoulders, Agenesis of permanent teeth, Wide mouth, Transposi...	OMIM:619503
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho...	OMIM:186500
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Aortic valve stenosis, Intra...	OMIM:139210
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As...	ORPHA:3092
Combined Immunodeficiency-Enteropathy Spectrum	Rectal abscess, Omphalocele, Intestinal malrotation, Congenital pulmonary airway malformation, Je...	ORPHA:436252
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Dental crowding, Ventricular hypertrophy, Aortic valve stenosis, Abnormal mitral va...	ORPHA:740
Weiss-Kruszka Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Single transverse palmar crease, Exa...	OMIM:618619
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Retrognathia, Thin vermilion border, Vascular dilatation, Short philtrum, Dental crowding, Atroph...	OMIM:618343
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Clubbing, Hypoxemia, Pneumonia, Recurrent ...	OMIM:610910
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Gm1 Gangliosidosis	Cardiomyopathy, Abnormal heart morphology, Abnormal epiphysis morphology, Long philtrum, Gastrosc...	ORPHA:354
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Short stature, Growth delay, Micr...	OMIM:613309
Fliedner-Zweier Syndrome	Long philtrum, Hypoplastic aortic arch, Meningocele, High palate, Tracheoesophageal fistula, Anal...	OMIM:620511
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Tracheoesophageal fistula, Split foot, Intrauterine growth retar...	ORPHA:958
Left Ventricular Noncompaction 1	Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul...	OMIM:604169
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Micrognathia, Conotruncal defect, Cleft palate	OMIM:243440
17Q12 Microduplication Syndrome	Finger syndactyly, Tracheoesophageal fistula, Cleft palate, Toe syndactyly, Atrial septal defect	ORPHA:261272
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Sandal gap, Morgagni diaphragmatic hernia, Death in infancy, Umbilical hernia, Long...	OMIM:613177
Yunis-Varon Syndrome	Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ...	ORPHA:3472
Colonic Atresia	Peptic ulcer, Omphalocele, Duodenal stenosis, Colonic atresia, Gastroschisis, Abdominal situs inv...	ORPHA:1198
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Holoprosencephaly 7	Semilobar holoprosencephaly, Solitary median maxillary central incisor, Alobar holoprosencephaly,...	OMIM:610828
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Po...	OMIM:607361
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Esophageal atresia, Anal atresia, Omphalocele, Cleft palate	ORPHA:95706
Indomethacin Embryofetopathy	Atrial septal defect, Ventricular septal defect, Cardiomyopathy	ORPHA:1909
Postsynaptic Congenital Myasthenic Syndromes	High palate, Triceps weakness, Abnormality of the musculature of the upper limbs, Weakness of the...	ORPHA:98913
Orofaciodigital Syndrome X	Retrognathia, Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescen...	OMIM:165590
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Hypodontia, Finger syndactyly, Adactyly, High palate, Narrow mouth...	ORPHA:989
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Disproportionate short-limb short stature, Metaphyseal cupping, Bowin...	ORPHA:85166
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, My...	ORPHA:93322
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextrocardia, Pyloric stenosis...	ORPHA:261197
Coffin-Siris Syndrome 4	Short phalanx of the 5th toe, Everted upper lip vermilion, Thick lower lip vermilion, Patent duct...	OMIM:614609
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Abnormal metaphysis morphology, Esophageal atresia, Disproportionate short-limb sh...	ORPHA:93271
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Disproportionate short-limb short stature, Hypoplast...	OMIM:200610
Pulmonary Alveolar Microlithiasis	Pneumothorax, Calcification of the aorta, Pleural thickening, Clubbing of fingers, Bronchitis, St...	ORPHA:60025
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Recurrent pneumonia, Open mouth, Umbilical hernia, Bicuspid aortic valv...	OMIM:617751
Orofaciodigital Syndrome Type 4	Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Severe short stature, Intrauterine ...	ORPHA:2753
Fraser Syndrome	Dental crowding, Myelomeningocele, Death in infancy, Umbilical hernia, Encephalocele, Toe syndact...	ORPHA:2052
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect, Vascular dilatation, Postaxial polydactyly	OMIM:219730
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia	OMIM:616910
Hsd10 Disease, Infantile Type	Cardiomegaly, Cyanosis, Hypertrophic cardiomyopathy	ORPHA:391428
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Non-midline cleft of the upper lip, Microdontia, Short stature, ...	ORPHA:1915
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Glossoptosis, Micromelia, Dumbbell-shaped long bone, Micrognathia, Cl...	ORPHA:440354
Teebi-Shaltout Syndrome	Rocker bottom foot, High, narrow palate, Caudal appendage, Single transverse palmar crease, Oligo...	OMIM:272950
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Death in childhood, Inguinal hernia, Ectodermal dysplasia, Postaxial hand ...	OMIM:308205
Cardiac Valvular Dysplasia 2	Central cyanosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Pulmonic stenosis, B...	OMIM:620067
Autoimmune Pulmonary Alveolar Proteinosis	Foam cells, Crazy paving pattern, Clubbing, Intraalveolar phospholipid accumulation, Hypoxemia, C...	ORPHA:747
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Retrognathia, Solitary median maxillary central incisor, Dental ...	OMIM:301044
Delpire-Mcneill Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Hip dislocation	OMIM:619083
Orofaciodigital Syndrome Type 1	Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Cone-shaped epiphysis, Lip pit, T...	ORPHA:2750
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Branchial anomaly, Ascending tubular aorta aneurysm, Oligodontia, ...	ORPHA:453499
Congenital Tracheal Stenosis	Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis,...	ORPHA:141127
Larsen Syndrome	Multiple carpal ossification centers, Short metacarpal, Dislocated wrist, Intrauterine growth ret...	OMIM:150250
Say Syndrome	Tapered finger, Short stature, Micrognathia, Cleft palate, Short distal phalanx of finger, Ulnar ...	OMIM:181180
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Atrioventricular canal defect, Vascular dilatation, Excessive wr...	ORPHA:500
Brachytelephalangic Chondrodysplasia Punctata	Postnatal growth retardation, Recurrent respiratory infections, Epiphyseal stippling, Calcaneal e...	ORPHA:79345
Adams-Oliver Syndrome	Arteriovenous malformation, Abnormal metacarpal morphology, Encephalocele, Hydrocephalus, Absent ...	ORPHA:974
Cranioectodermal Dysplasia 3	Widely spaced teeth, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Ectodermal dysplasia, Everted lo...	OMIM:614099
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin vermilion border, Short philtrum, Spina bifida occulta, Short lingual frenulum, Narrow mouth...	OMIM:617360
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Tessier cleft, Orofacial cleft, Hydrocephalus, Tracheoesophageal...	ORPHA:268249
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Open mouth	OMIM:616816
Peroxisome Biogenesis Disorder 2A (Zellweger)	Death in childhood, Cubitus valgus, Jaundice, Single transverse palmar crease, Camptodactyly, Met...	OMIM:214110
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy	OMIM:616277
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Postnatal growth retardation, Perimembranous ventricular septal defect, Thick lower lip vermilion...	OMIM:301040
Enlarged Parietal Foramina	Occipital encephalocele, Venous malformation, Short clavicles, Myelomeningocele, Broad thumb, Cle...	ORPHA:60015
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Hajdu-Cheney Syndrome	Delayed puberty, Partial absence of toe, Intestinal malrotation, Aortic valve stenosis, Umbilical...	ORPHA:955
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ...	OMIM:170390
Acrocephalopolydactylous Dysplasia	Extrapulmonary lobar sequestration, Hypoplasia of the small intestine, Postaxial hand polydactyly...	OMIM:200995
X Small Rings	Long philtrum, Clinodactyly of the 5th finger, Aortic root aneurysm, Upper limb undergrowth, 2-3 ...	ORPHA:96201
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Mitr...	ORPHA:508533
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short greater sciatic notch, Mecke...	OMIM:312870
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Umbilical hernia, Intrauterine gro...	ORPHA:672
Chromosome 13Q14 Deletion Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Single transverse palmar crease, Patent foramen ...	OMIM:613884
Noonan Syndrome 2	Abnormal coronary artery origin, Prominent fingertip pads, Cardiomyopathy, Pulmonic stenosis, Wid...	OMIM:605275
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Methimazole Embryofetopathy	Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Coarctation of aorta, ...	ORPHA:1923
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplastic coccygeal vertebrae, Absent thumb, Hypoplastic sacral vertebrae, Intrau...	OMIM:105650
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival hyperkeratosis, Everted lower lip vermilion, Umbilical hernia, Inguinal hernia, Short st...	OMIM:225410
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Death in infancy, Short stature, Micrognathia, Natal tooth, Ventricular septa...	OMIM:616901
Congenital Heart Defects, Multiple Types, 3	Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of...	OMIM:614954
Ablepharon Macrostomia Syndrome	Thin vermilion border, Excessive wrinkled skin, Microdontia, Omphalocele, Hypoplasia of the maxil...	ORPHA:920
Kinsship Syndrome	Dislocated radial head, Death in infancy, Mesomelia, Wide mouth, Cervical ribs, Coxa valga, Hip d...	OMIM:619297
Noonan Syndrome 8	Patent ductus arteriosus, Palmoplantar cutis laxa, Pleural effusion, Hypertrophic cardiomyopathy,...	OMIM:615355
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Cardiomyopathy, Short palm, Micrognathia, Cleft palate, Downturned c...	OMIM:217980
Diaphragmatic Hernia 4, With Cardiovascular Defects	Clinodactyly of the 5th finger, 11 pairs of ribs, Aortic root aneurysm, Finger syndactyly, 2-3 to...	OMIM:620025
16P13.11 Microdeletion Syndrome	Exaggerated cupid's bow, Short stature, Camptodactyly of finger, Cleft upper lip, Cleft palate, W...	ORPHA:261236
Kleefstra Syndrome 1	Talipes equinovarus, Single transverse palmar crease, Mandibular prognathia, Everted lower lip ve...	OMIM:610253
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Short philtrum, Hydrocephalus, Mandibular prognathia, Delayed ossification...	OMIM:239300
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypoplasia of the capital femoral...	OMIM:215150
Verloove Vanhorick-Brubakk Syndrome	Abnormal femur morphology, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Branchio-Oculo-Facial Syndrome	Premature graying of hair, Orofacial cleft, Non-midline cleft of the upper lip, High palate, Ever...	ORPHA:1297
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Slender long bone, Thin ribs, Short stature, Micrognathia, Cleft palate, Brachydact...	OMIM:618265
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Ventricular septal defect, Cleft palate	OMIM:214300
Orofaciodigital Syndrome Ix	High palate, Abnormality of the dentition, Camptodactyly, Short stature, Hand polydactyly, Cleft ...	OMIM:258865
Frontometaphyseal Dysplasia	Limited elbow movement, Dislocated radial head, Wrist flexion contracture, Short metacarpal, Broa...	ORPHA:1826
Meckel Syndrome, Type 11	Polydactyly, Occipital encephalocele	OMIM:615397
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Arachnodactyly, Mitral valve prolapse, Umbilical hernia, Narrow palate, I...	OMIM:182212
Trisomy 20P	Abnormal palate morphology, Thin vermilion border, Abnormal hip bone morphology, Inguinal hernia,...	ORPHA:261318
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory infections, Ventricul...	OMIM:616037
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Inguinal hernia, Short philtrum, Hydrocephalus, Mandibular prognathia, Everted low...	OMIM:601499
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Protein-losing enteropathy, Inguinal hernia, Pancreatic lymphangiec...	ORPHA:1655
Heart And Brain Malformation Syndrome	High, narrow palate, Thick lower lip vermilion, Interrupted aortic arch, Everted lower lip vermil...	OMIM:616920
Toriello-Carey Syndrome	Postnatal growth retardation, Abnormal palate morphology, Aganglionic megacolon, Cardiomyopathy, ...	ORPHA:3338
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy, Left ventricular hypertrophy	ORPHA:444013
Baller-Gerold Syndrome	Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Apla...	ORPHA:1225
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent foramen ovale, Proportionate short stature, Patent ductus arteriosus, Atrial septal defect...	OMIM:617044
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Bilateral lung agenesis, Pulmonary artery stenosis, Congenital p...	OMIM:611812
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Palmoplantar keratoderma, Conical tooth, Del...	ORPHA:1071
Mend Syndrome	Polydactyly, Hydrocephalus, 2-3 toe syndactyly, High palate, Aortic valve stenosis, Short stature...	OMIM:300960
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Bifid uvula, Cleft pa...	ORPHA:2521
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Inguinal hernia, Mandibular prognathia, Short ribs, Cardiomyopathy, Short...	OMIM:252600
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Palmar pits, Delayed eruption of teeth, Odontogenic keratocysts of ...	ORPHA:77301
Atelosteogenesis, Type I	Disproportionate short-limb short stature, Clubbing, Tibial bowing, Short metacarpal, Short humer...	OMIM:108720
Choanal Atresia	Polydactyly, Recurrent respiratory infections, Cyanosis, Chronic sinusitis	ORPHA:137914
Transaldolase Deficiency	Thin vermilion border, Short philtrum, Patent foramen ovale, Coarctation of aorta, Wide mouth, Pa...	OMIM:606003
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Retrognathia, Flexion contracture of toe, Joint contracture of the 5th finger...	OMIM:602782
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Slender long bone, Single transverse palmar crease, Asce...	ORPHA:444072
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax...	OMIM:615986
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Micrognathia, Velopharyngeal insufficiency, Patent ductus arteriosus, Dental maloc...	OMIM:613680
Trisomy X	Atrial septal defect, Ventricular septal defect, Clinodactyly of the 5th finger, Hip dysplasia	ORPHA:3375
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Anal atr...	ORPHA:1352
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Absent cupid's bow, Ventricular hypertrophy, Celiac disease, Pulmonic stenosis, Coarctation of ao...	ORPHA:284169
Congenital Disorder Of Glycosylation, Type Iia	Postnatal growth retardation, Retrognathia, Thin vermilion border, Proximal placement of thumb, S...	OMIM:212066
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Distal Duplication 17Q	Genu valgum, Rhizomelia, Short philtrum, High palate, Short stature, Arachnodactyly, Micrognathia...	ORPHA:3379
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Single transverse palmar crease, ...	OMIM:616202
Campomelic Dysplasia	Disproportionate short-limb short stature, Absent sternal ossification, Dislocated radial head, H...	OMIM:114290
Wolf-Hirschhorn Syndrome	Malrotation of small bowel, Craniofacial asymmetry, Intrauterine growth retardation, Hip dislocat...	OMIM:194190
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Short metacarpal, Microdontia,...	OMIM:605282
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Postnatal growth retardation, Abnormal thumb morphology, Aganglionic mega...	ORPHA:959
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Tented upper lip vermilion, Smooth philtrum, Brachydactyly, Clino...	ORPHA:313781
Meacham Syndrome	Abnormal lung lobation, Situs inversus totalis, Congenital diaphragmatic hernia, Transposition of...	ORPHA:3097
Giant Cell Arteritis	Recurrent pharyngitis, Glossitis, Vasculitis, Double outlet right ventricle with subpulmonary ven...	ORPHA:397
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Hernia of the abdominal wall, Tetralogy of Fallot, Patent ductus art...	ORPHA:2184
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Pyloric stenosis, Short stature, Malar flattening, Patent ductus arteriosus, Ventr...	OMIM:218350
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve...	ORPHA:1457
Koolen-De Vries Syndrome	Prominent fingertip pads, Everted lower lip vermilion, Pulmonic stenosis, Bicuspid aortic valve, ...	OMIM:610443
Bardet-Biedl Syndrome 22	Polydactyly, Postaxial foot polydactyly	OMIM:617119
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Tarsal synostosis, Inguinal hernia, Elbow flexion contracture, Camptodactyly, Arthrogryposis mult...	OMIM:178110
Keutel Syndrome	Emphysema, Premature fusion of phalangeal epiphyses, Short hallux, Epiphyseal stippling, Recurren...	OMIM:245150
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect, Keloids	ORPHA:357225
Marden-Walker Syndrome	Situs inversus totalis, Abnormal anatomic location of the heart, Retrognathia, Dextrocardia, Hydr...	ORPHA:2461
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
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Hypertrophic cardiomyopathy	OMIM:610773
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hypoplastic iliac wing, Cardiomyopathy, Flared iliac wing, Metaphyseal irreg...	OMIM:253200
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Intestinal obstruction, Purpura, Vasculitis, Transient ischemic attack, Hypertrophic...	ORPHA:183
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Cyanosis, Recurrent respiratory infections, Clubbing of fingers, Right a...	ORPHA:99106
Trisomy 8P	Retrognathia, Clinodactyly of the 5th toe, Clinodactyly of the 2nd finger, Bifid uvula, Malrotati...	ORPHA:264450
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Stroke, Cardiomyopathy, Short stature, Atrial septal defect, Ventricular ...	OMIM:249270
Sotos Syndrome	Narrow palate, Advanced eruption of teeth, Muscular ventricular septal defect, High, narrow palat...	OMIM:117550
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Retrognathia, Atrioventricular canal defect, Clinodac...	ORPHA:3047
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Cyanosis, Hydrocephalus, Cardiomyopathy, Pleural effusion, Hypertrophic cardiomy...	OMIM:261740
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Esophageal atresia, 11 pairs of ribs, Hydrocephalus, Tracheoesophageal fistula, Growth delay, Hol...	ORPHA:77298
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Microretrognathia, Patent ductus arteriosus, Intrauterine growth r...	OMIM:619909
Rhombencephalosynapsis	Polydactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Finger syndactyly, Narrow ...	ORPHA:59315
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Lipoatrophy, Thin vermilion border, Limited elbow movement, Dental maloc...	OMIM:614008
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect, Neonatal death, Death in infancy	OMIM:613730
Holzgreve Syndrome	Abnormal metacarpal morphology, Abnormal rib morphology, Hand polydactyly, Cleft palate, Abnormal...	ORPHA:2167
Kleefstra Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Mandibular prognathia, Exaggerated cupid's...	ORPHA:261494
Costello Syndrome	Narrow palate, Thick lower lip vermilion, Abnormal dental enamel morphology, Abnormality of the d...	ORPHA:3071
Feingold Syndrome Type 1	Tricuspid atresia, Clinodactyly of the 5th finger, Esophageal atresia, Interrupted aortic arch, 2...	ORPHA:391641
Van Den Ende-Gupta Syndrome	Dislocated radial head, Dental crowding, Short ribs, Femoral bowing, Everted lower lip vermilion,...	OMIM:600920
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Wide mouth, Atrial septal defect, ...	OMIM:615279
Omodysplasia 1	Limited elbow extension, Fibular hypoplasia, Limited elbow flexion/extension, Rhizomelia, Disprop...	OMIM:258315
Nephronophthisis 15	Polydactyly	OMIM:614845
Beck-Fahrner Syndrome	Long philtrum, High palate, Open mouth, Hip dysplasia, Cardiomegaly, Ventricular septal defect	OMIM:618798
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353277
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ...	OMIM:119600
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Inguinal hernia, Meningocele, Dental crowding, Hi...	ORPHA:2789
Hajdu-Cheney Syndrome	Dislocated radial head, Intestinal malrotation, Crowded carpal bones, Umbilical hernia, Long phil...	OMIM:102500
Classical Ehlers-Danlos Syndrome	Dislocated radial head, Arteriovenous fistula, Arterial dissection, Cigarette-paper scars, Mitral...	ORPHA:287
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Patent ductus arteriosus, Aglossia, At...	OMIM:241310
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept...	ORPHA:1455
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
8P Inverted Duplication/Deletion Syndrome	Retrognathia, High, narrow palate, Clinodactyly of the 5th finger, Dextrocardia, Everted lower li...	ORPHA:96092
Radio-Tartaglia Syndrome	Retrognathia, High, narrow palate, Short philtrum, Dental crowding, High palate, Tapered finger, ...	OMIM:619312
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Jaundice, Patent foramen ovale, Arthrogryposis multiplex congenita, Death in infancy, Micrognathi...	OMIM:208085
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me...	OMIM:260660
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Rectovaginal fistula, Narro...	ORPHA:1780
Buerger Disease	Vasculitis, Livedo reticularis, Acrocyanosis	ORPHA:36258
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Intestinal atresia, Ventricular ...	ORPHA:3405
Adams-Oliver Syndrome 5	Inguinal hernia, Patent foramen ovale, Esophageal varix, Right atrial enlargement, Pulmonic steno...	OMIM:616028
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Atrioventricular canal defect, Aganglionic megacolon, Tracheoesophageal ...	ORPHA:210122
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Ar...	OMIM:614437
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Retrognathia, Clinodactyly of the 5th finger, Esophageal atresia, Spina ...	OMIM:301030
3Q29 Microduplication Syndrome	Sandal gap, Ectopic anus, High palate, Abnormality of the dentition, Camptodactyly of toe, Cleft ...	ORPHA:251038
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Arterial tortuosity, Arterial dissection, Pulmonic stenosis, Arachnodactyly, Abnorm...	ORPHA:284984
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Retrognathia, Patent ductus arteriosus, Gingival overgrowth, High p...	ORPHA:96191
Faciocardiomelic Syndrome	Polydactyly, Slender long bone, Hypoplastic pelvis, Common atrium, Micrognathia, Wide mouth, Long...	OMIM:612731
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis	ORPHA:621
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Exaggerated cupid's bow, High palate, Aortic valve stenosis, Short palm, Micrognathia,...	OMIM:614501
Ablepharon-Macrostomia Syndrome	Ventral hernia, Clinodactyly of the 5th finger, Premature skin wrinkling, Aplastic zygomatic arch...	OMIM:200110
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Mosaic Trisomy 20	Retrognathia, Abnormal mitral valve morphology, Micrognathia, Cleft palate, Clinodactyly, Down-sl...	ORPHA:1724
Kawasaki Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Cheilitis, Jaundice, Recurrent pharyngit...	ORPHA:2331
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Atrial septal defect, Ventricular septal defect, Stroke	ORPHA:49827
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Retrognathia, Duodenal ulcer, Sandal gap, Dislocated radial head...	OMIM:135900
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Neonatal death, Finger aplasia, Endocardial fibroelastosis	OMIM:276822
Coffin-Lowry Syndrome	Short metacarpal, Everted lower lip vermilion, Cutis marmorata, Broad palm, Coxa valga, Narrow pa...	OMIM:303600
Macrocephaly-Intellectual Disability-Autism Syndrome	Lymphoid nodular hyperplasia, Intestinal polyposis, Foot polydactyly, Preaxial hand polydactyly, ...	ORPHA:210548
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Multiple carpal ossification centers, Dislocated radi...	OMIM:143095
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Macroglossia, Everted lower lip vermilion, Femoral hernia, Protruding tongue, Ao...	ORPHA:96147
Thalidomide Embryopathy	Aplasia/hypoplasia of the femur, Abnormal fibula morphology, Triphalangeal thumb, Radial club han...	ORPHA:3312
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Short stature, Micrognathia, Metaphyseal dysplasia, Thick vermilion border, Bra...	OMIM:250410
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Congenital diaphragmatic hernia, Transposition of the great arteri...	ORPHA:2255
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo...	ORPHA:536471
Greenberg Dysplasia	Retrognathia, Disproportionate short-limb short stature, Short ribs, Short long bone, Short metac...	OMIM:215140
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, Short lower limbs...	OMIM:615873
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Death in infancy, Micrognathia, Patent ductus arteriosus, Ventricular sept...	ORPHA:452
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Microdontia, Bifid uvula, Wide mouth...	OMIM:613458
46,Xx Sex Reversal 5	Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Ventricular septal defect, Hypo...	OMIM:618901
Lenz-Majewski Hyperostotic Dwarfism	Cutis marmorata, Syndactyly, Intrauterine growth retardation, Broad ribs, Inguinal hernia, Elbow ...	OMIM:151050
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, High palate, Short stature, Cleft palate, Patent ductus arteriosus, Ventricular sep...	ORPHA:52055
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Micrognathia, Abnormal heart morphology, Hip dysplasia, Intrauterin...	ORPHA:494344
Breath-Holding Spells	Cyanosis	OMIM:607578
Meier-Gorlin Syndrome 1	Absent sternal ossification, Short ribs, Microdontia, Death in infancy, Intrauterine growth retar...	OMIM:224690
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Short philtrum, Long toe, Interrupted aortic arch, Hydrocephalus, Hyperextens...	ORPHA:163979
Houge-Janssens Syndrome 2	Hydrocephalus, Postaxial polydactyly, Broad hallux, Tented upper lip vermilion, Open mouth, Hip d...	OMIM:616362
Pyruvate Dehydrogenase E1-Alpha Deficiency	Single transverse palmar crease, Recurrent aspiration pneumonia, Flexion contracture, Limb underg...	ORPHA:79243
Noonan Syndrome 10	Cubitus valgus, Patent ductus arteriosus, Palmoplantar cutis laxa, Pleural effusion, High palate,...	OMIM:616564
Bent Bone Dysplasia Syndrome 2	Ulnar bowing, Bowed humerus, Short tibia, Thin ribs, Short ribs, Hypoplastic iliac wing, Femoral ...	OMIM:620076
Fucosidosis	Lipoatrophy, Vascular skin abnormality, Abnormality of the dentition, Acrocyanosis, Cardiomegaly	ORPHA:349
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Hypoxemia, Respiratory tract infection, Pneumonia, Cyanosis	ORPHA:70587
Hyperlipoproteinemia, Type I	Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent...	OMIM:238600
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Heterotaxy, Inguinal hernia, Duodenal atresia, Short stature, Wi...	OMIM:618846
Adams-Oliver Syndrome 1	Encephalocele, Pulmonic stenosis, Aortic valve stenosis, Pulmonary artery stenosis, Cleft palate,...	OMIM:100300
Joubert Syndrome 16	Polydactyly, Encephalocele	OMIM:614465
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Stroke, Transient ischemic attack, Anomalous origin of the left common carotid artery f...	ORPHA:99104
Oeis Complex	11 pairs of ribs, Rectovaginal fistula, Hydrocephalus, Anal atresia, Omphalocele, Intestinal malr...	OMIM:258040
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Short philtrum, High palate, Coarctation of aorta, S...	OMIM:618929
Coffin-Siris Syndrome	Postnatal growth retardation, Thick lower lip vermilion, Patent ductus arteriosus, Delayed erupti...	ORPHA:1465
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Encephalocele, Meningocele, Talipes equinovarus, Median cleft palate, Midlin...	ORPHA:1827
Intellectual Developmental Disorder, Autosomal Dominant 47	Widely-spaced incisors, Ventricular septal defect, Wide mouth, Intrauterine growth retardation	OMIM:617635
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:615812
Congenital Myasthenic Syndrome	Cyanosis, High palate, Congenital hip dislocation, Microretrognathia, Narrow jaw, Recurrent respi...	ORPHA:590
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Widely spaced teeth, Recurrent lower respiratory tract infections, Sanda...	OMIM:619229
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, High palate, Congenital hip dislocation, Microretrognathia, Narrow jaw, Recurrent respi...	ORPHA:98914
Kaufman Oculocerebrofacial Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, High palate, Narrow mouth, Conge...	OMIM:244450
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Occipital encephalocele, Aplasia/Hypoplasia involving bones of the tho...	ORPHA:397715
Hydrolethalus	Retrognathia, Gingival cleft, Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Micromelia,...	ORPHA:2189
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Cyanosis	OMIM:207950
Opitz Gbbb Syndrome	Rectourethral fistula, Solitary median maxillary central incisor, Inguinal hernia, High palate, A...	OMIM:300000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Widely spaced teeth, Palmoplantar keratoderma, Conical tooth, 2-3 toe syndactyly, Selective tooth...	OMIM:106260
Necrotizing Enterocolitis	Gastroschisis, Abnormal heart morphology, Cyanosis	ORPHA:391673
Khan-Khan-Katsanis Syndrome	Triangular mouth, Patent foramen ovale, Bilateral superior vena cava with no bridging vein, Corne...	OMIM:618460
10Q22.3Q23.3 Microdeletion Syndrome	Tricuspid valve prolapse, Atrioventricular canal defect, Intestinal polyposis, Arachnodactyly, Mi...	ORPHA:276413
Multiple Pterygium Syndrome, Escobar Variant	Congenital diaphragmatic hernia, Rocker bottom foot, Dislocated radial head, Arachnodactyly, Synd...	OMIM:265000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Aganglionic megacolon, Anal stenosis, Anal atresia, Growth delay, Shortening of all distal phalan...	OMIM:614749
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Left ventricular hypertrophy, Long philtrum, Deep palmar crease, Short philtrum, Pate...	OMIM:619127
X-Linked Intellectual Disability, Armfield Type	Limited elbow extension, Inguinal hernia, Short philtrum, Abnormal cardiac septum morphology, Man...	ORPHA:85276
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Jaundice, Death in infancy, Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Hi...	OMIM:613404
Jacobsen Syndrome	Atrial septal defect, Clinodactyly of the 5th finger, Hydrocephalus, Missing ribs, Pyloric stenos...	OMIM:147791
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
Laurence-Moon Syndrome	Short stature, Abnormality of the hand, Polydactyly	OMIM:245800
Tatton-Brown-Rahman Syndrome	Thin vermilion border, Everted upper lip vermilion, Exaggerated cupid's bow, Umbilical hernia, At...	OMIM:615879
Aicardi-Goutieres Syndrome 1	Purpura, Petechiae, Vasculitis, Cardiomyopathy, Short stature, Prolonged neonatal jaundice, Acroc...	OMIM:225750
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, High, narrow palate, Death in childhood, Cubitus valgus, Epiphyseal stippling...	OMIM:214100
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Patent foramen ovale, Short stature, Absent thumb, Short thumb, Intraut...	OMIM:609053
16Q24.3 Microdeletion Syndrome	Solitary median maxillary central incisor, Proximal placement of thumb, High palate, Micrognathia...	ORPHA:261250
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Bladder Exstrophy	Bladder exstrophy, Inguinal hernia, Abnormality of the anus, Omphalocele, Intestinal malrotation,...	ORPHA:93930
Fanconi Anemia	Abnormal carotid artery morphology, Abnormal femur morphology, Arteriovenous malformation, Meckel...	ORPHA:84
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
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect, Micrognathia, Arthrogryposis multiplex congenita	OMIM:607598
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Retrognathia, High palate, Short stature, Recurrent pneumonia, Recurrent aspiration pneumonia, Bi...	OMIM:300472
Renpenning Syndrome 1	Situs inversus totalis, Death in childhood, Clinodactyly of the 5th finger, Short philtrum, Mandi...	OMIM:309500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Prominent fingertip pads, Microdontia, Broad thumb, Bifid uvula, Long philtrum, Short distal phal...	OMIM:612474
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd ...	OMIM:181450
Joubert Syndrome 27	Polydactyly, Thick lower lip vermilion	OMIM:617120
Ogden Syndrome	Left atrial enlargement, Everted upper lip vermilion, Sandal gap, Umbilical hernia, Cardiomegaly,...	OMIM:300855
Neonatal Marfan Syndrome	Lipoatrophy, Increased arm span, Tricuspid valve prolapse, High, narrow palate, Emphysema, Abnorm...	ORPHA:284979
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Mend Syndrome	Hydrocephalus, 2-3 toe syndactyly, High palate, Aortic valve stenosis, Asymmetry of the mouth, Mi...	ORPHA:401973
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Retrognathia, Aortic valve stenosis, Cutis marmorata, Inguinal h...	ORPHA:96121
22Q11.2 Deletion Syndrome	Abnormal aortic arch morphology, Intestinal malrotation, Arachnodactyly, Umbilical hernia, Long p...	ORPHA:567
Noonan Syndrome 4	Cubitus valgus, Dental malocclusion, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short statur...	OMIM:610733
Joubert Syndrome 39	Joint contracture of the 5th finger, Occipital encephalocele, Postaxial polydactyly, Hypoplastic ...	OMIM:619562
Tetrasomy 9P	Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Juxtaductal coarc...	ORPHA:3310
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Death in infancy, Intestinal...	OMIM:270400
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Histiocytoid Cardiomyopathy	Pulmonary edema, Cyanosis, Hydrocephalus, Stroke-like episode, Cleft palate, Cardiomegaly, Ventri...	ORPHA:137675
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Tracheoesophageal fistula, Broad thumb, Umbilical hernia, Aplasia/Hy...	OMIM:107480
Diamond-Blackfan Anemia 12	Ventricular septal defect, Triphalangeal thumb	OMIM:615550
Lymphedema-Distichiasis Syndrome	Chylothorax, Cleft upper lip, Micrognathia, Cleft palate, Tetralogy of Fallot, Patent ductus arte...	OMIM:153400
Pitt-Hopkins Syndrome	Postnatal growth retardation, Abnormal palate morphology, Aganglionic megacolon, Short metatarsal...	ORPHA:2896
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta, Bifid sternum	OMIM:140850
Trisomy 8Q	Orofacial cleft, Deep palmar crease, Non-midline cleft of the upper lip, High palate, Everted low...	ORPHA:1752
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar...	OMIM:618280
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Short stature, Growth delay, Micrognathia, Coarctation of aorta, Bifid uvula, Cl...	OMIM:614921
Exstrophy-Epispadias Complex	Anal stenosis, Inguinal hernia, Hydrocephalus, Anal atresia, Omphalocele, Spina bifida, Abnormal ...	ORPHA:322
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Polydactyly, Short long bone, Brachydactyly	OMIM:613819
Zellweger Syndrome	Jaundice, Epiphyseal stippling, High palate, Death in infancy, Pyloric stenosis, Short stature, M...	ORPHA:912
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Intes...	OMIM:619608
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Orofacial cleft, Interrupted aortic arch, Patent foramen ovale, Hypertrophic cardiom...	ORPHA:17
Cutis Laxa, Autosomal Dominant 1	Long philtrum, Emphysema, Inguinal hernia, Prematurely aged appearance, Uterine prolapse, Bronchi...	OMIM:123700
Loeys-Dietz Syndrome 3	Retrognathia, Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic to...	OMIM:613795
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Delayed puberty, Lipoma, Lower-limb joint contracture, Everted lower lip vermilion, Long philtrum...	ORPHA:459070
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Prune belly, Increased overbite	OMIM:618504
Bardet-Biedl Syndrome 1	High, narrow palate, Aganglionic megacolon, Radial deviation of finger, Dental crowding, High pal...	OMIM:209900
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Undulate...	OMIM:211350
Phocomelia, Schinzel Type	Aplasia/Hypoplasia involving the pelvis, Tracheoesophageal fistula, Intrauterine growth retardati...	ORPHA:2879
Laryngeal Abductor Paralysis	Cyanosis, Talipes equinovarus	OMIM:150260
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Recurrent respiratory infections, Elevated bronchoalveolar lavage fluid lymphocyte p...	OMIM:610978
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Long philtrum, Patent foramen ovale, High palate, Congenital hip dislocation, Contracture of the ...	ORPHA:457279
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Missing ribs, ...	OMIM:184705
King-Denborough Syndrome	Short stature, Ventricular septal defect, High palate, Deep philtrum	OMIM:619542
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Death in infancy, Abnormal heart morpholo...	OMIM:612289
Chromosome 14Q11-Q22 Deletion Syndrome	Hip subluxation, Inguinal hernia, Patent foramen ovale, High palate, Narrow mouth, Proportionate ...	OMIM:613457
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Dilatation of celiac artery, Arteriovenous fistul...	OMIM:187300
Curry-Jones Syndrome	Finger syndactyly, Intestinal malrotation, Broad thumb, Foot polydactyly, Abnormality of thumb ph...	ORPHA:1553
Raine Syndrome	Microdontia, Death in infancy, Wide mouth, Hydrocephalus, Micromelia, Short stature, Cleft palate...	OMIM:259775
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Rectovaginal fistula, Synostosis of carpal bones, ...	ORPHA:2307
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Large placenta, Inguinal hernia, Mandibular prognathia, Diastasi...	ORPHA:116
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Hypoplasia of the radius, Hypoplasia of the ulna, Narrow palate,...	OMIM:200980
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Palmoplantar hyperkeratosis, Abnormality of the philtrum, Ectodermal dysplasia, Microdontia, Clef...	OMIM:225060
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Frontometaphyseal Dysplasia 2	Delayed puberty, Dislocated radial head, Short metacarpal, Broad thumb, Pulmonic stenosis, Bifid ...	OMIM:617137
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Triphalangeal hallux, Lipomyelomeningocele, Intesti...	OMIM:601707
Floating-Harbor Syndrome	Mesocardia, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Microdont...	OMIM:136140
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Panniculitis, Recurrent lower respiratory tract infections, Recurrent respirato...	OMIM:612541
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Short philtrum, Hydrocephalus, Mandibular prognathia, High palate, Anal...	ORPHA:261337
Dravet Syndrome	Cyanotic episode, Tibial torsion	ORPHA:33069
Septooptic Dysplasia	Short stature, Short finger, Polydactyly	OMIM:182230
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor...	OMIM:620642
Osteogenesis Imperfecta	Intestinal obstruction, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated radia...	ORPHA:666
Noonan Syndrome 9	Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Short stature	OMIM:616559
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Zttk Syndrome	Bifid uvula, Cervical ribs, Intrauterine growth retardation, Short philtrum, Abnormality of the d...	OMIM:617140
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Inguinal hernia, Abnormal right ventricle morphology, Spina bifida occ...	ORPHA:500095
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Meckel Syndrome	Situs inversus totalis, Anencephaly, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Fu...	ORPHA:564
Degcags Syndrome	Premature graying of hair, Retrognathia, Pulmonic stenosis, Wide mouth, Syndactyly, Long philtrum...	OMIM:619488
Fanconi Anemia, Complementation Group D2	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Aplasia of the 1st metacarpal, Shor...	OMIM:227646
Ehlers-Danlos Syndrome, Vascular Type	Repeated pneumothoraces, Cigarette-paper scars, Descending aortic dissection, Mitral valve prolap...	OMIM:130050
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Wrist flexion contracture, Long philtrum, Intrauterine growth retardation, Sm...	OMIM:208150
Chops Syndrome	High, narrow palate, Patent foramen ovale, Anomalous pulmonary venous return, Aspiration pneumoni...	OMIM:616368
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, High, narrow palate, Widely spaced teeth, Short philtrum, Dental crowding, Paten...	OMIM:300967
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly, Encephalocele	OMIM:611560
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Respiratory infections in early life, Clinodactyly of the 5th finge...	ORPHA:96179
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Clinodactyly of the 5th finger, Multiple joint contractures, Hallux valgus, Aortic v...	ORPHA:464306
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Purpura, Recurrent aphthous stomatitis, Vasculitis, Growth delay, Urticar...	ORPHA:343
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Dysplastic pulmonary valve, Mandibular prognathia, Unilateral cleft pa...	OMIM:619103
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Supernumerary tooth, Retrognathia, Short 5th toe, Widely spaced teeth, 2-4 toe cutan...	ORPHA:268261
Feingold Syndrome 1	Tricuspid atresia, Esophageal atresia, Interrupted aortic arch, 2-3 toe syndactyly, High palate, ...	OMIM:164280
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect...	ORPHA:3282
Tbck-Related Intellectual Disability Syndrome	Broad finger, High, narrow palate, 11 pairs of ribs, Broad toe, Mandibular prognathia, 2-3 toe sy...	ORPHA:488632
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Cleft...	OMIM:611561
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Omphalocele, Micrognathia, Holoprosencephaly, Syndactyly, Long philtrum, Jejunal a...	OMIM:618820
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus	OMIM:126320
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the hand, Cheilitis, Aganglionic megacolon, Inguinal hernia, Abnormal dental ename...	ORPHA:2273
Crane-Heise Syndrome	Finger syndactyly, Intrauterine growth retardation, Micrognathia, Cleft palate, Short distal phal...	ORPHA:1512
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia	ORPHA:79237
Adnp Syndrome	Polydactyly, Advanced eruption of teeth, Thick lower lip vermilion, Inguinal hernia, Sandal gap, ...	ORPHA:404448
Poems Syndrome	Metaphyseal sclerosis, Clubbing of fingers, Pleural effusion, Pericardial effusion, Lipodystrophy...	ORPHA:2905
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Bifid uvula, Wide mouth, Severe short stature, Symphalangism affectin...	ORPHA:2658
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Restrictive Dermopathy	Temporomandibular joint ankylosis, Microcolon, Aplasia/Hypoplasia of the clavicles, Intrauterine ...	ORPHA:1662
Phelan-Mcdermid Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, 2-3 toe syndactyly, High palate, Micrognathi...	OMIM:606232
Cerebrooculonasal Syndrome	Narrow palate, Postnatal growth retardation, Solitary median maxillary central incisor, Encephalo...	OMIM:605627
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema, High palate, Corneal scarring, Growth delay, Hand clenching, Flexion contracture, Open ...	OMIM:614653
High Altitude Pulmonary Edema	Pulmonary edema, Hypoxemia, Cyanosis	ORPHA:330012
Joubert Syndrome 23	Polydactyly	OMIM:616490
Spondylo-Ocular Syndrome	Thin vermilion border, Short stature, Disproportionate short-trunk short stature, Long philtrum, ...	ORPHA:85194
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal bone, Hypoplasia of ...	ORPHA:306542
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Au-Kline Syndrome	Retrognathia, Deep palmar crease, Clinodactyly of the 5th finger, Aortic root aneurysm, Oligodont...	OMIM:616580
Long-Olsen-Distelmaier Syndrome	Death in childhood, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricu...	OMIM:620609
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head, Chronic bronchitis	OMIM:616629
Multiple Mitochondrial Dysfunctions Syndrome 7	Open mouth, Gingival overgrowth, Cyanosis, Partial atrioventricular canal defect	OMIM:620423
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Temple Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:616222
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Disproportionate short-l...	OMIM:261540
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Everted lower lip vermilion, Broad thumb, Prolonged neonatal jau...	OMIM:619534
Kapur-Toriello Syndrome	Orofacial cleft, Intestinal malrotation, Tetralogy of Fallot, Patent ductus arteriosus, Ventricul...	ORPHA:2328
Atrial Septal Defect 1	Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of...	OMIM:108800
Noonan Syndrome 1	Postnatal growth retardation, High, narrow palate, Radial deviation of finger, Cubitus valgus, De...	OMIM:163950
Townes-Brocks Syndrome	Delayed puberty, Absent toe, Broad thumb, Wide mouth, Aplasia/Hypoplasia of the 3rd toe, Abnormal...	ORPHA:857
Marfan Syndrome	Retrognathia, Limited elbow movement, Dental crowding, Aortic tortuosity, Arterial dissection, Ar...	ORPHA:558
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Clinodactyly of the 5th finger, Short philtrum, Oligodontia, Everted lower...	OMIM:609460
Pontocerebellar Hypoplasia, Type 8	Patent foramen ovale, Arthrogryposis multiplex congenita, Tented upper lip vermilion, Ventricular...	OMIM:614961
Eisenmenger Syndrome	Atrioventricular canal defect, Cyanosis, Bacterial endocarditis, Stroke, Aortopulmonary window, C...	ORPHA:97214
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Dental crowding, Aortic valve stenosis, Pulmonic stenosis, Intest...	ORPHA:353281
Legius Syndrome	Polydactyly, Clinodactyly of the 5th finger, Non-small cell lung carcinoma, Pulmonic stenosis, Sh...	ORPHA:137605
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Prolonged...	ORPHA:363611
Restrictive Dermopathy 1	Rocker bottom foot, Temporomandibular joint ankylosis, Overtubulated long bones, Intrauterine gro...	OMIM:275210
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Atrioventricular canal defect, Exaggerated cupid's bow, Narrow mouth, Dermatographic urticaria, S...	OMIM:619480
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Thick lower lip vermilion, Broad ischia, Short stature, Short palm, Thick u...	OMIM:619727
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Hypermobile Ehlers-Danlos Syndrome	Dental crowding, Microdontia, Arterial dissection, Arachnodactyly, Mitral valve prolapse, Umbilic...	ORPHA:285
Ear-Patella-Short Stature Syndrome	Retrognathia, Bifid uvula, Severe short stature, Abnormal epiphysis morphology, Intrauterine grow...	ORPHA:2554
Acromelic Frontonasal Dysostosis	Persistent falcine venous sinus, Dilation of Virchow-Robin spaces, Patellar hypoplasia, Encephalo...	OMIM:603671
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Cardiomyopathy, Long philtrum, Overlapping toe, Tooth malposition, Abnormality o...	ORPHA:480880
Cryptogenic Organizing Pneumonia	Pneumothorax, Hypoxemia, Cyanosis	ORPHA:1302
Wrinkly Skin Syndrome	Microdontia, Umbilical hernia, Long philtrum, Intrauterine growth retardation, Muscular ventricul...	OMIM:278250
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Broad alveolar ridges, C...	OMIM:216340
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Palmoplantar keratoderma, Patent foramen ovale, Notched primary central incisor, Right atrial enl...	OMIM:620519
Arboleda-Tham Syndrome	Sandal gap, Pulmonic stenosis, Intestinal malrotation, Upper limb amyotrophy, Recurrent aspiratio...	OMIM:616268
Orofaciodigital Syndrome Type 14	Supernumerary tooth, Aplasia of the epiglottis, Deviation of the hallux, Postaxial hand polydacty...	ORPHA:434179
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr...	ORPHA:247585
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Triphalangeal thumb, Cleft soft palate, Abnormality of the up...	ORPHA:124
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Oligodactyly, Severe intrauterine growth retardation...	OMIM:218600
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Femoral bowing, Med...	OMIM:616462
Encephalocraniocutaneous Lipomatosis	Lipoma, Hydrocephalus, Multiple central nervous system lipomas, Subcutaneous lipoma, Atrial septa...	OMIM:613001
Trichothiodystrophy	Retrognathia, High, narrow palate, Multiple joint contractures, Cutaneous photosensitivity, Prema...	ORPHA:33364
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Cardiomyopathy	ORPHA:159
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Arachnodactyly, Abnormal duodenum morphology, Mitral valve prolapse, Umbi...	OMIM:601776
Beckwith-Wiedemann Syndrome	Cardiomyopathy, Diastasis recti, Omphalocele, Cardiomegaly, Macroglossia	OMIM:130650
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Atrial septal defect, Prea...	OMIM:619471
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Peroxisome Biogenesis Disorder 5A (Zellweger)	Jaundice, Cubitus valgus, Epiphyseal stippling, Single transverse palmar crease, High palate, Dea...	OMIM:614866
Trichohepatoneurodevelopmental Syndrome	Steatorrhea, Widely spaced teeth, Fibular bowing, Clinodactyly of the 5th finger, Dental crowding...	OMIM:618268
Cog4-Cdg	Hypercholesterolemia	ORPHA:263501
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Joubert Syndrome 37	Short stature, High palate, Postaxial polydactyly	OMIM:619185
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Lip telangiectasia, Di...	OMIM:610655
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Non-midline cleft of the upper lip, Split hand, Abnormal rib morphology, Micro...	ORPHA:1300
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Inguinal hernia, Single transverse palmar crease, Short stature, ...	OMIM:614947
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ...	OMIM:619662
Peters Plus Syndrome	Disproportionate short-limb short stature, Pulmonic stenosis, Wide mouth, Umbilical hernia, Long ...	ORPHA:709
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Cone-shaped epiphysis, Muscular ventricular septal defect, Tarsa...	OMIM:157800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, High palate, Postaxial polydactyly, Microgna...	OMIM:617527
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Severe intrauterine growth retardation, Wrist flexion contracture, Sh...	OMIM:268300
Neurodevelopmental Disorder With Language Delay And Seizures	Growth delay, Ventricular septal defect	OMIM:619908
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Delayed puberty, Bilateral single transverse palmar creases, Pro...	ORPHA:199
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest...	ORPHA:412
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Abnormality of the anus, Long philtrum, Bicuspid aortic valve, Short 5th finger, Hyd...	OMIM:607872
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Widely spaced teeth, Hypoplastic aortic arch, Triangular mouth, Aortic root aneurysm, Patent fora...	OMIM:617506
Transketolase Deficiency	Patent foramen ovale, Proportionate short stature, Abnormal coronary artery course, Abnormal hear...	ORPHA:488618
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Stippled calcification of the elbow, Stroke, Ventricular hypertrophy,...	ORPHA:51608
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Emphysema, Vascular dilatation, Inguinal hernia, Pyloric stenosis, Recurrent pneumo...	ORPHA:90349
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Nail bed telangiectasia, Clubbing, Nasal mucosa telangiectasia, Cerebral a...	OMIM:600376
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio...	OMIM:610338
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Clinodactyly of the 5th finger, Broad alveolar ridges, Patent foramen ovale, High palate, Furrowe...	OMIM:616975
Trichohepatoenteric Syndrome 1	Large placenta, Jaundice, Narrow mouth, Pulmonic stenosis, Short stature, Bifid uvula, Tetralogy ...	OMIM:222470
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Cyanosis, Protruding tongue	OMIM:619580
Ring Chromosome 7 Syndrome	Situs inversus totalis, Thin vermilion border, Genu valgum, Clinodactyly of the 5th finger, Short...	ORPHA:1449
Congenital Gerbode Defect	Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m...	ORPHA:99095
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Retrognathia, Perimembranous ventricular septal defect, Inguinal he...	ORPHA:83617
Encephalopathy, Ethylmalonic	Petechiae, Acrocyanosis, Death in infancy	OMIM:602473
Fanconi Anemia, Complementation Group C	Short stature, Complete duplication of thumb phalanx, Absent thumb, Short thumb, Flexion contract...	OMIM:227645
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Hypoplasia of the radius, Anal atresia, Absent thumb, Short thumb, ...	OMIM:610832
Hardikar Syndrome	Bilateral cleft palate, Intestinal malrotation, Prolonged neonatal jaundice, Unilateral cleft lip...	OMIM:301068
Kabuki Syndrome 1	Postnatal growth retardation, Anal stenosis, Anoperineal fistula, Hydrocephalus, Prominent finger...	OMIM:147920
Atrial Septal Defect, Ostium Secundum Type	Stroke, Transient ischemic attack, Right atrial enlargement, Abnormal mitral valve morphology, Pn...	ORPHA:99103
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Intestinal malrotation, Growth delay, Wide mouth, Short femur, Ventricular septal de...	OMIM:617798
Alzahrani-Kuwahara Syndrome	Long philtrum, Hypodontia, Narrow philtrum, Patent foramen ovale, Coronary sinus enlargement, Sho...	OMIM:619268
Floating-Harbor Syndrome	Mesocardia, Dislocated radial head, Short metacarpal, Microdontia, Wide mouth, Clinodactyly, Shor...	ORPHA:2044
Trichothiodystrophy 4, Nonphotosensitive	Hypoplasia of teeth, Retrognathia, Ventricular septal defect, Growth delay	OMIM:234050
Unilateral Polymicrogyria	Stroke, Abnormal heart morphology, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Transposition of the great arteries, Encephalocele, Hydrocephalus, Pulmonic stenosis, Myocardial ...	OMIM:253800
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Pericardial effusion, Persistent left superior vena cava, Ventricula...	OMIM:618775
Loeys-Dietz Syndrome	Orofacial cleft, Vascular dilatation, Arterial tortuosity, Aortic aneurysm, High palate, Arterial...	ORPHA:60030
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Fibular hypoplasia, Hip subluxation, Aortic root aneurysm, Patent foramen ovale, Macroglossia, Gl...	ORPHA:444077
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest...	OMIM:278000
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Hypoplastic aortic arch, Hydrocephalus, Postaxia...	ORPHA:457284
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Cyanosis	OMIM:250800
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Talipes equinovarus, Hydrocephalus, Postaxial hand polydact...	OMIM:612284
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Craniofacial Microsomia 1	Occipital encephalocele, Wide mouth, Cervical ribs, Hydrocephalus, Maxillozygomatic hypoplasia, C...	OMIM:164210
Syndromic Diarrhea	Villous atrophy, Gastritis, Inguinal hernia, Short stature, Abnormal heart morphology, Tetralogy ...	ORPHA:84064
Myopathy With Extrapyramidal Signs	Growth delay, Ventricular septal defect, Tented upper lip vermilion	OMIM:615673
Sitosterolemia 1	Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe...	OMIM:210250
Saethre-Chotzen Syndrome	Narrow palate, Clinodactyly of the 5th finger, Absent first metatarsal, Hallux valgus, Abnormal p...	OMIM:101400
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly	OMIM:615824
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Long hallux, Large hands, Thick vermilion border, Mitral valve prolapse, Varicos...	OMIM:617107
Phace Association	Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte...	OMIM:606519
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia	ORPHA:528
Duane Retraction Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Spina bifida occulta, Aplasia/Hypoplasia of the th...	ORPHA:233
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Delayed puberty, Dental crowding, Wide mouth, Left ventricular hypertrophy, Short philtrum, Paten...	ORPHA:466791
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormality of the sphenoid sinus, Abnormal tibia morphology, Genu valgum, Hydrocephalus, Patent ...	ORPHA:363700
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
Mgat2-Cdg	Dental crowding, Recurrent upper and lower respiratory tract infections, Abnormal heart morpholog...	ORPHA:79329
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Genu valgum, Cyanosis	ORPHA:488627
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Mitochondrial Complex I Deficiency, Nuclear Type 1	Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Growth del...	OMIM:252010
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Patent foramen oval...	ORPHA:209905
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Rhizomelia, Epiphyseal stippling, Stippled calcification in carpal ...	OMIM:302960
Culler-Jones Syndrome	Short stature, Cleft upper lip, Cleft palate, Postaxial polydactyly	OMIM:615849
Noonan Syndrome 3	Tricuspid valve prolapse, Patent foramen ovale, High palate, Hypertrophic cardiomyopathy, Pulmoni...	OMIM:609942
Congenital Disorder Of Glycosylation, Type Iiaa	Short long bone, Bilateral talipes equinovarus, Patent ductus arteriosus after premature birth, K...	OMIM:620454
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Cyanosis	ORPHA:2004
Digeorge Syndrome	Right aortic arch with mirror image branching, High, narrow palate, Atelectasis, Inguinal hernia,...	OMIM:188400
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Atrioventricular canal defect, Jaundice, Necrotizing enterocolitis, Pleural...	OMIM:619573
Costello Syndrome	Pneumothorax, Limited elbow movement, Lymphangiectasis, Thick lower lip vermilion, Deep palmar cr...	OMIM:218040
Alstrom Syndrome	Polydactyly, Abnormality of the dentition, Gingivitis, Short stature, Recurrent pneumonia, Dilate...	OMIM:203800
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa...	ORPHA:99094
Ulbright-Hodes Syndrome	Short ribs, Severe intrauterine growth retardation, Short metacarpal, Mesomelia, Short humerus, A...	ORPHA:3404
Diamond-Blackfan Anemia 5	Short stature, Ventricular septal defect	OMIM:612528
Lissencephaly 9 With Complex Brainstem Malformation	Short stature, Ventricular septal defect	OMIM:618325
Senior-Loken Syndrome 8	Polydactyly, Vascular dilatation	OMIM:616307
Microphthalmia, Syndromic 3	Postnatal growth retardation, Esophageal atresia, Vertebral hypoplasia, Missing ribs, Rib fusion,...	OMIM:206900
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anteriorly placed anus, Omphalocele	OMIM:248450
Eosinophilic Fasciitis	Cellulitis, Fasciitis, Acrocyanosis	ORPHA:3165
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Disproportionate ...	ORPHA:3144
Aicardi-Goutières Syndrome	Moyamoya phenomenon, Calcification of the aorta, Lipoatrophy, Panniculitis, Aortic aneurysm, Hype...	ORPHA:51
Acquired Purpura Fulminans	Macular purpura, Intracranial hemorrhage, Acrocyanosis	ORPHA:49566
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Birth length less than 3rd percentile, Tapered finger, Aortic valve st...	ORPHA:464311
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Short stature, Neonatal death, Patent ductus arteriosus, Atrial septal d...	OMIM:620024
Alagille Syndrome 1	Hypoplasia of the ulna, Stroke, Renal artery stenosis, Abnormal rib morphology, Prolonged neonata...	OMIM:118450
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:819
Dermatomyositis	Myocarditis, Abnormal pulmonary interstitial morphology, Facial erythema, Erythema, V-sign, Cutan...	ORPHA:221
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Retrognathia, Metaphyseal enchondromatosis, Metaphyseal irregularity, Long philtrum, Intrauterine...	ORPHA:99646
Ethylmalonic Encephalopathy	Petechiae, Acrocyanosis	ORPHA:51188
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad thumb, Long philtrum, Broad hallux phalanx, Exencephaly, ...	ORPHA:2211
Vascular Ehlers-Danlos Syndrome	Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous...	ORPHA:286
Primary Hyperoxaluria	Rootless teeth, Cardiomyopathy, Abnormality of the dentition, Cutis marmorata, Acrocyanosis, Abno...	ORPHA:416
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal...	OMIM:620066
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent fingertip pads, Cardiomyopathy, Everted lower lip vermilion, Pulmonic stenosis, Arachno...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent fingertip pads, Cardiomyopathy, Everted lower lip vermilion, Pulmonic stenosis, Arachno...	ORPHA:363958
Sepsis In Premature Infants	Purpura, Jaundice, Petechiae, Enterocolitis, Cyanosis	ORPHA:90051
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Deep palmar crease, Cubitus valgus, Inguinal hernia, High palate, Hypertrophic cardiomyopathy, Pu...	OMIM:607721
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Short philtrum, Hydrocephalus, Short stature, Recurrent respiratory infectio...	OMIM:619575
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Williams-Beuren Syndrome	Premature graying of hair, Microdontia, Pulmonic stenosis, Mitral valve prolapse, Umbilical herni...	OMIM:194050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Clinodactyly of the 5th finger, Hypoplastic philtrum, Intestinal malrotation, Volvulus, Cerebral ...	OMIM:616682
Early Infantile Epileptic Encephalopathy	Broad finger, Short finger, Broad phalanx of the toes, Cleft palate, Umbilical hernia, Ventricula...	ORPHA:1934
Postinfectious Vasculitis	Ischemic stroke, Palpable purpura, Vascular dilatation, Bacterial endocarditis, Cardiomyopathy, V...	ORPHA:48435
Bardet-Biedl Syndrome	Retrognathia, Long philtrum, Aganglionic megacolon, Abnormal oral cavity morphology, Hypodontia, ...	ORPHA:110
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Shprintzen Omphalocele Syndrome	Short stature, Thin vermilion border, Anal atresia, Omphalocele	OMIM:182210
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Recurrent bronchitis, Mandibular prognathia, High palate, Cutaneous syndactyly, Toe c...	OMIM:620330
Genitopatellar Syndrome	Anal stenosis, Delayed eruption of teeth, Inferior pubic ramus hypoplasia, Anal atresia, Hypoplas...	OMIM:606170
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Rectoperineal fistula, Coarctation of aorta, Tetralogy of Fallot, Ventricul...	OMIM:618748
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short finger, Clinodactyly of the 5th finger, Abnormality of the palmar creases, Single transvers...	OMIM:619522
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Patent ductus arteriosus, Flared metaphysis, Coarse metaphyseal trabecularization, Hip dysplasia,...	OMIM:620558
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Exaggerated cupid's bow, Flexion contracture, Smooth philtrum, Long philtrum, Ventricular septal ...	OMIM:619306
Renal Agenesis	Talipes equinovarus, Ventricular septal defect, Pulmonary hypoplasia, Anal atresia	ORPHA:411709
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	High palate, Growth delay, Prolonged neonatal jaundice, Microretrognathia, Multiple pulmonary cys...	OMIM:619418
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Biventricular hypertrophy, Ventricular septal defect, Left ventricular hype...	OMIM:615474
Omphalocele Syndrome, Shprintzen-Goldberg Type	Downturned corners of mouth, Thin upper lip vermilion, Anal atresia, Omphalocele	ORPHA:3164
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage	ORPHA:369929
Microphthalmia, Syndromic 6	Polydactyly, Retrognathia, Abnormality of the hand, Clinodactyly of the 5th finger, Finger syndac...	OMIM:607932
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Recurrent lower respiratory tract infections, Everted lower lip vermilion, Short...	ORPHA:293987
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Branchiooculofacial Syndrome	Postnatal growth retardation, Premature graying of hair, Clinodactyly of the 5th finger, Proximal...	OMIM:113620
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Bardet-Biedl Syndrome 12	Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:615989
Ethylene Glycol Poisoning	Pulmonary edema, Cyanosis, Gastritis	ORPHA:31826
Proboscis Lateralis	Abnormal ethmoid bone morphology, Orofacial cleft, Agenesis of canine, Abnormal facial skeleton m...	ORPHA:141099
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Abnormal jaw morphology, Abnormal hear...	ORPHA:261552
Lysinuric Protein Intolerance	Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev...	ORPHA:470
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Broad philtrum, Intrauterine growth retardation, Bicuspid aortic valve, Jaundice...	OMIM:619475
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Retrognathia, Patent foramen ovale, Anomalous origin of left subclavian artery, Aspiration pneumo...	ORPHA:438213
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Inguinal hernia, Ankyloglossia, Prolonged neonatal jaundice, Micrognathia, T...	OMIM:619525
Familial Dysautonomia	Growth delay, Recurrent respiratory infections, Abnormal pleura morphology, Acrocyanosis	ORPHA:1764
Sotos Syndrome	Prolonged neonatal jaundice, Abnormal heart morphology, Umbilical hernia, Flushing, Aganglionic m...	ORPHA:821
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch...	ORPHA:90041
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia	ORPHA:90674
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Death in childhood, Recurrent lower respiratory tract infections, Death in infancy	OMIM:618426
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Conjugated hyperbilirubinemia...	ORPHA:186
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:151660
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Growth delay, Acrocyanosis, Recurrent infections due to aspiration	OMIM:223900
Mowat-Wilson Syndrome	Aganglionic megacolon, Widely spaced teeth, Delayed eruption of teeth, Tooth malposition, Pulmoni...	OMIM:235730
Liver Disease, Severe Congenital	Left atrial enlargement, Pulmonary edema, Pneumonia, Protein-losing enteropathy, Jaundice, Inguin...	OMIM:619991
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Hypoplasia of the primary teeth, Vascular dilatatio...	OMIM:243800
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Prader-Willi Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:176270
Penile Agenesis	Rectal fistula, Bilateral lung agenesis, Cloacal abnormality, Tracheoesophageal fistula, Anal atr...	ORPHA:49
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia	ORPHA:275761
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Cardiogenic Shock	Hypoxemia, Cyanosis	ORPHA:97292
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Polydactyly, Pituitary dwarfism, Median cleft palate, Abnormal digit morphology,...	ORPHA:95494
Myasthenic Syndrome, Congenital, 21, Presynaptic	Meconium ileus, Cyanosis, Knee flexion contracture	OMIM:617239
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia	ORPHA:79259
Immunodeficiency 47	Hypercholesterolemia, Decreased circulating copper concentration	OMIM:300972
Hyperoxaluria, Primary, Type I	Cutis marmorata, Peripheral arterial stenosis, Acrocyanosis	OMIM:259900
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Myasthenia Gravis	Acrocyanosis	ORPHA:589
Osteoporosis-Pseudoglioma Syndrome	Short stature, Ventricular septal defect, Metaphyseal widening, Tibial bowing	OMIM:259770
Goodpasture Syndrome	Cyanosis, Reticular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar f...	OMIM:233450
Oculocerebrorenal Syndrome Of Lowe	Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hypercholesterolemia, Hypoammonemia	ORPHA:534
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula...	OMIM:309000
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypercholesterolemia	OMIM:606721
Steinert Myotonic Dystrophy	Hypercholesterolemia	ORPHA:273
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665

Histopathology

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

There is no histopathology data for Ift25

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 Ift25.

No publications found that use IMPC mice or data for Ift25.

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MGI Allele	Allele Type	Produced
Ift25^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ift25^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, 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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