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Gene: Ltbp1 MGI:109151

Gene Summary

Name:

latent transforming growth factor beta binding protein 1

Synonyms:

Ltbp1L, LTBP-1, 9430031G15Rik, b2b1000Clo

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No 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 bilirubin level	Ltbp1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.64×10^-05
decreased body length	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.03×10^-07
abnormal incisor morphology	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.73×10^-06
increased hemoglobin content	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.23×10^-05
decreased body weight	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.03×10^-13
abnormal tooth morphology	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.65×10^-10
decreased bone mineral content	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.20×10^-05
vertebral fusion	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.49×10^-05
abnormal coat/hair pigmentation	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.98×10^-05
abnormal radius morphology	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.77×10^-12
abnormal cranium morphology	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.87×10^-12
abnormal ulna morphology	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.33×10^-11
abnormal snout morphology	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.25×10^-12
decreased total body fat amount	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.21×10^-09

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 3)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	100% (3 of 3)
Bone	N/A	heterozygote	0.0% (0 of 3)
Brain	N/A	heterozygote	0.0% (0 of 3)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 3)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 3)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 3)
Gall bladder	N/A	heterozygote	66.67% (2 of 3)
Heart	N/A	heterozygote	66.67% (2 of 3)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	33.33% (1 of 3)
Large intestine	N/A	heterozygote	0.0% (0 of 3)
Liver	N/A	heterozygote	33.33% (1 of 3)
Lower urinary tract	N/A	heterozygote	66.67% (2 of 3)
Lung	N/A	heterozygote	33.33% (1 of 3)
Lymph node	N/A	heterozygote	0.0% (0 of 3)
Mammary gland	N/A	heterozygote	0.0% (0 of 3)
Esophagus	N/A	heterozygote	0.0% (0 of 3)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	66.67% (2 of 3)
Oviduct	N/A	heterozygote	66.67% (2 of 3)
Pancreas	N/A	heterozygote	0.0% (0 of 3)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 3)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 3)
Peyer's patch	N/A	heterozygote	0.0% (0 of 3)
Pituitary gland	N/A	heterozygote	0.0% (0 of 3)
Prostate gland	N/A	heterozygote	0.0% (0 of 3)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 3)
Skin	N/A	heterozygote	0.0% (0 of 3)
Small intestine	N/A	heterozygote	33.33% (1 of 3)
Spinal cord	N/A	heterozygote	0.0% (0 of 3)
Spleen	N/A	heterozygote	0.0% (0 of 3)
Stomach	N/A	heterozygote	100% (3 of 3)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	33.33% (1 of 3)
Thymus	N/A	heterozygote	0.0% (0 of 3)
Thyroid gland	N/A	heterozygote	33.33% (1 of 3)
Trachea	N/A	heterozygote	66.67% (2 of 3)
Uterus	N/A	heterozygote	33.33% (1 of 3)
White adipose tissue	N/A	heterozygote	0.0% (0 of 3)

No Embryo expression data was found for this gene.

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

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

No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

10 Images

View images

Legacy Phenotype Associated Images

Ltbp1^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
head, HOM, Female, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
forearm, HOM, Female, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
body, HOM, Female, WTSI

View all 135 images

Ltbp1^{tm1a(EUCOMM)Wtsi}
short snout, HOM, Male, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
short snout, abnormal snout morphology, HOM, Male, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
short snout, asymmetric snout, HOM, Female, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
asymmetric snout, short snout, HOM, Female, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
asymmetric snout, HOM, Male, WTSI

View all 7 images

Ltbp1^{tm1a(EUCOMM)Wtsi}
eye, synechia, mydriasis, corneal opacity, cornea/lens fusion, impaired pupillary reflex, HOM, Female, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Ltbp1 mutations

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

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

Human diseases associated with Ltbp1 (2 diseases)
Human diseases predicted to be associated with Ltbp1 (2137 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cutis Laxa, Autosomal Recessive, Type Iie		Joint laxity, Syndactyly, Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosy...	OMIM:619451
Autosomal Recessive Cutis Laxa Type 1		Peripheral pulmonary artery stenosis, Recurrent urinary tract infections, Dilatation of the ventr...	ORPHA:90349

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

Disease	Matching phenotypes	Source
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great...	OMIM:231060
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Cysteine Peptiduria	Abnormal circulating glycine concentration, Abnormal circulating cysteine concentration	OMIM:219550
Sarcosinemia	Hypersarcosinemia	OMIM:268900
Maple Syrup Urine Disease, Mild Variant	Hyperisoleucinemia, Hyperleucinemia	OMIM:615135
Schizophrenia 4	Hyperprolinemia	OMIM:600850
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Tricuspid Atresia	Atrial septal defect, Cyanosis, Ventricular septal defect, Patent foramen ovale, Hypoplasia of ri...	ORPHA:1209
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atri...	OMIM:616749
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Cyanosis, Abnormal coronary artery morphology, Ventricul...	ORPHA:860
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T...	OMIM:614779
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Abnor...	ORPHA:3104
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death...	OMIM:608978
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Neonatal Hemochromatosis	Anteverted nares, Micrognathia, Prominent nose, Congenital hepatic fibrosis, Prolonged neonatal j...	ORPHA:446
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,...	OMIM:617478
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t...	OMIM:618845
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the...	ORPHA:1040
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Delayed sk...	ORPHA:1837
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis	OMIM:601355
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet r...	OMIM:620294
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Anonychia-Microcephaly Syndrome	Abnormality of the dentition, Carious teeth, Aplastic/hypoplastic toenail, Clinodactyly of the 5t...	ORPHA:1094
Partial Atrioventricular Septal Defect	Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic kidney dysplasia,...	OMIM:173900
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Abnormali...	ORPHA:2501
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, A...	ORPHA:2779
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Wide nasal bridge, Cutaneous syndactyly, Fin...	OMIM:272440
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ...	ORPHA:1727
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Vascular dilatation	OMIM:614859
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria luso...	ORPHA:99050
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, ...	ORPHA:2516
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, Depressed nasal bridge, Br...	OMIM:232400
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
17Q21.31 Microduplication Syndrome	Anteverted nares, Micrognathia, Abnormality of the dentition, High palate, Short philtrum, Malar ...	ORPHA:217340
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Ectopic kidney, Abnormal heart morphology, Atrial septal defect, Trunc...	ORPHA:401935
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Rubinstein-Taybi Syndrome 2	Syndactyly, Thick eyebrow, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talo...	OMIM:613684
Acrodysostosis	Mandibular prognathia, Micromelia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Sh...	ORPHA:950
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec...	OMIM:306955
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma...	ORPHA:1275
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem...	OMIM:605282
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract	ORPHA:1705
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na...	ORPHA:1248
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:620010
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Kyphosis, Thick ...	OMIM:300602
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus	OMIM:611867
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge, Dental malocclusion	OMIM:155050
Scimitar Syndrome	Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,...	ORPHA:185
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,...	ORPHA:1263
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Delayed skeletal ma...	ORPHA:3268
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal hair quantity, Abnormal morphology of ulna, Short neck, Obesity, Low posterior hairline,...	ORPHA:2233
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia...	ORPHA:915
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Increased bone mineral density, Dental enamel pits, Periapical tooth absc...	ORPHA:3352
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Double Outlet Right Ventricle	Cyanosis, Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypopla...	ORPHA:3426
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect, Renal hypoplasia	OMIM:616589
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat...	OMIM:618363
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Melanocytic nevus, Anemia...	ORPHA:3319
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Failure to thrive, Short hallux, Spinal rigidity, Limitation of joint mo...	ORPHA:337
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Achilles tendon contr...	OMIM:619719
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias	OMIM:615542
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth...	ORPHA:1832
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Aortic valve stenosis, Pulmonic sten...	OMIM:615415
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sin...	ORPHA:2332
Microphthalmia, Syndromic 9	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus a...	OMIM:601186
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp...	ORPHA:2916
Atkin-Flaitz Syndrome	Anteverted nares, Abnormality of the dentition, Broad nasal tip, Everted lower lip vermilion, Thi...	ORPHA:1193
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Hypoplastic thumbnail, ...	ORPHA:370010
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology...	ORPHA:2633
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del...	ORPHA:85198
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Accelerated skeletal maturation, Micrognathia, Abnormal hand morphology, Metap...	ORPHA:93307
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection	OMIM:135580
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of t...	OMIM:257850
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Absence Of The Pulmonary Artery	Cyanosis, Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, P...	ORPHA:980
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific...	OMIM:166750
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Verheij Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus	OMIM:615583
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Cohen Syndrome	Thoracic scoliosis, Bone spicule pigmentation of the retina, Single transverse palmar crease, Mic...	OMIM:216550
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High ...	ORPHA:93315
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, Multiple renal c...	ORPHA:1166
Intellectual Disability, Birk-Barel Type	Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Microgn...	ORPHA:166108
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ...	OMIM:600001
Adams-Oliver Syndrome 4	Cutis marmorata, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbil...	OMIM:615297
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Arachnodactyly, Palmar pits, Carious teeth, Hemivertebra...	ORPHA:377
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid...	OMIM:619736
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Short neck, Patent ductus arteriosus, Perimembranous ventricular septal defect,...	OMIM:608104
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,...	OMIM:268310
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata...	OMIM:611773
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep philtrum, High palate, Everte...	ORPHA:261120
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition, Broad nasal tip	ORPHA:2776
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph...	ORPHA:1354
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop...	OMIM:135100
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o...	ORPHA:93323
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Familial Aortic Dissection	Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Desc...	ORPHA:229
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Wt Limb-Blood Syndrome	Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Retrogn...	OMIM:194350
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress...	ORPHA:1529
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Malaria	Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Wide nasal bridge, Gingival overgrowth, Downturned corners of...	OMIM:618729
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni...	OMIM:617516
Kallmann Syndrome-Heart Disease Syndrome	Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardi...	ORPHA:2326
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu...	ORPHA:391641
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short meta...	OMIM:619636
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Distal Triplication 15Q	Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r...	ORPHA:314588
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, High palate, Everted lower lip vermilion, Short nose, Conve...	ORPHA:1695
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil...	OMIM:617056
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ...	ORPHA:189
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose	ORPHA:1355
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, High palate, Neut...	ORPHA:221016
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth, Convex...	OMIM:156510
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru...	ORPHA:2141
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal fingernail morphology, Craniosynostosis, A...	ORPHA:1515
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis...	OMIM:300845
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Single transverse palmar crease, Adducted thumb, Notched primary central incis...	OMIM:620062
Aortic Arch Interruption	Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv...	ORPHA:2299
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Isolated Polycystic Liver Disease	Multiple renal cysts, Vascular dilatation	ORPHA:2924
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Leu...	ORPHA:1328
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch, Limb hypertonia	OMIM:616920
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Cardioacrofacial Dysplasia 2	Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus	OMIM:619143
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Cleft upper lip, Cleft palate, Clinodactyly o...	OMIM:244600
Acrocardiofacial Syndrome	Death in infancy, Mitral stenosis, Camptodactyly of finger, Ventricular septal defect, Coarctatio...	ORPHA:2008
Igg4-Related Aortitis	Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila...	ORPHA:449400
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Malar flattening, Short nose, Retrognathia, Open mouth	OMIM:613670
Emanuel Syndrome	Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Delayed eruption of primary t...	OMIM:609029
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Double outlet right ventricle, Hypoplastic left heart, Pu...	OMIM:220210
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St...	OMIM:613095
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Laubry-Pezzi Syndrome	Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se...	ORPHA:99094
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med...	ORPHA:313892
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Short metatarsal, Advanced ossification of carpal bones,...	OMIM:614613
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Trichodentoosseous Syndrome	Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro...	OMIM:190320
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric...	OMIM:265380
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Synophrys, Wide nasal bridge, Downturned corners of mouth, Wide mouth, ...	OMIM:618067
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Narrow palm, Small hand, Obesity, Short foot, Abnormal ulnar metaphysis...	ORPHA:177910
Trisomy 4P	Smooth philtrum, Camptodactyly of finger, Abnormal hair pattern, Short neck, Abnormality of the d...	ORPHA:1738
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Perlman Syndrome	Hepatomegaly, Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Abnormal pancreas ...	ORPHA:2849
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p...	ORPHA:2429
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j...	ORPHA:2741
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Hall-Riggs Syndrome	U-Shaped upper lip vermilion, Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Thick...	OMIM:234250
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Transaldolase Deficiency	Hepatomegaly, Depressed nasal bridge, Splenomegaly, Micronodular cirrhosis, Wide anterior fontane...	OMIM:606003
Diaphanospondylodysostosis	Short neck, Cleft palate, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno...	ORPHA:66637
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri...	OMIM:618280
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, H...	OMIM:226650
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Cleft palate, Low posterior hairline, Abnormal shoulder m...	ORPHA:2345
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Fetal Encasement Syndrome	Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney	OMIM:613630
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T...	OMIM:192430
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane...	OMIM:178110
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato...	ORPHA:369
Gillessen-Kaesbach-Nishimura Syndrome	Micrognathia, Underdeveloped nasal alae, Wide anterior fontanel, Periportal fibrosis, Retrognathi...	OMIM:263210
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Do...	ORPHA:3304
Splenoportal Vascular Anomalies	Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system	OMIM:271500
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo...	ORPHA:2791
2Q31.1 Microdeletion Syndrome	Short neck, Hypoplastic toenails, Micrognathia, Abnormal tibia morphology, Synophrys, Low anterio...	ORPHA:251014
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Supernumerary maxillary incisor...	OMIM:302350
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit...	OMIM:618000
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis	OMIM:613313
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Intellectual Developmental Disorder, X-Linked 91	High palate, Short nose, Macrodontia	OMIM:300577
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Arachnodactyly, Abnormal dental enamel morphology, Ab...	ORPHA:96169
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum	ORPHA:93945
Hall-Riggs Syndrome	Delayed eruption of teeth, Slow-growing hair, Thick hair, Abnormal dental enamel morphology, Join...	ORPHA:2107
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,...	OMIM:614564
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Eem Syndrome	Finger syndactyly, Absent eyebrow, Sparse scalp hair, Abnormality of retinal pigmentation, Abnorm...	ORPHA:1897
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Dental crowding, Short metatarsal, Short palm, Sparse hair, Short phalanx of finger, ...	OMIM:190351
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Single transverse palmar crease, Cleft palate, Thin vermilion border, Long eyelash...	OMIM:615502
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Hypoplastic toenails, Conical incisor, Microdontia, ...	ORPHA:289
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	OMIM:231100
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b...	ORPHA:249
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Microdontia, Hypopigm...	ORPHA:221008
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Lipoatrophy, Micrognathia, Open bite, Kyphosis, Carious teeth, Reduced bo...	ORPHA:2617
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thick...	OMIM:618506
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Patent ductus arteriosus, Muscular ventricular septal defect, Abnormal heart morphology, Perimemb...	ORPHA:363444
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum	ORPHA:46
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Single transverse palmar crease, Craniosynostosis, Congenital diaphr...	ORPHA:2409
Mitochondrial Myopathy And Sideroblastic Anemia	Long philtrum, Short nose, High palate, Micrognathia	ORPHA:2598
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Smooth philtrum, Widely-spaced...	OMIM:618737
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ...	ORPHA:2255
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spina bifida occulta, Pulmonic stenosis, Transposition of the great arteries, Perimembranous vent...	OMIM:617877
Emanuel Syndrome	Delayed eruption of teeth, Redundant neck skin, Multiple joint contractures, Ventricular septal d...	ORPHA:96170
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture,...	OMIM:616549
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin...	OMIM:613759
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Large for gestational age, Micrognathia, Syn...	OMIM:213980
Trisomy 17P	Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hypoplastic lef...	ORPHA:261290
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of fin...	OMIM:309620
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate...	ORPHA:1200
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Long philtrum...	ORPHA:261295
Congenital Tracheomalacia	Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu...	ORPHA:95430
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis	OMIM:176090
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose, Long philtrum	OMIM:125700
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec...	OMIM:108721
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias	ORPHA:1919
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Hypoplastic fronta...	OMIM:136760
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Thoracic kyphoscoliosis, Alopecia, Generalized hypoplasia of dental enamel, Carious teeth, Flexio...	OMIM:203550
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Abnormal cardiac septum morphology, Polycystic kidney dysplasia	OMIM:608776
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no...	ORPHA:1906
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba...	ORPHA:99095
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Abnormality...	ORPHA:53
Snijders Blok-Campeau Syndrome	Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:618205
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse ha...	OMIM:619692
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Cardiac Valvular Dysplasia 1	Atrial septal defect, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid ste...	OMIM:212093
Peho-Like Syndrome	Short nose, Retrognathia, Open mouth	OMIM:617507
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar prominence, ...	ORPHA:2522
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Ectodermal dysplasia, Atrial septal defect, Common atrium	OMIM:225500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl...	OMIM:263200
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening	OMIM:241310
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Tented upper lip vermilion, Depressed nasal bridge, ...	ORPHA:79322
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Short neck, Microcytic anemia, Micrognathia, Short toe, Flexion contracture, Wide nasal bridge, R...	ORPHA:98791
Epidermolysis Bullosa, Junctional 4, Intermediate	Macular hyperpigmented dermopathy, Dental enamel pits, Carious teeth, Scarring alopecia of scalp,...	OMIM:619787
Cerebellofaciodental Syndrome	Single transverse palmar crease, Tapered finger, Short neck, Sparse eyebrow, Delayed skeletal mat...	OMIM:616202
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin...	OMIM:300106
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge	ORPHA:2835
Perching Syndrome	Joint contracture, Cyanosis, Camptodactyly	OMIM:617055
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia...	OMIM:108720
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth	OMIM:246560
Tetrasomy 15Q26	Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal defect, Hydron...	OMIM:614846
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c...	OMIM:265000
Congenital Myopathy 11	Atrial septal defect, Weakness of facial musculature, Patent ductus arteriosus, Patent foramen ovale	OMIM:619967
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly, Shor...	OMIM:618804
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D...	OMIM:614744
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Scoliosis, Multiple cafe-au-lait s...	ORPHA:1445
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch, Vesicouret...	ORPHA:250989
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr...	OMIM:270100
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul...	ORPHA:1461
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab...	ORPHA:477817
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum	ORPHA:1389
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Sp...	OMIM:235510
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci...	OMIM:602400
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Ureteral...	OMIM:208540
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Cleft upper lip, Cleft palate, Low posterior hairline, Fused cervical vertebrae, Scol...	OMIM:214300
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp...	ORPHA:251393
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Hypopigmentation of the skin, Natal tooth, Single transverse palmar crease...	OMIM:601957
Mandibuloacral Dysplasia With Type B Lipodystrophy	Brittle hair, Dental crowding, Micrognathia, Flexion contracture, High palate, Sparse hair, Prema...	OMIM:608612
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Single transverse palmar crease, Short neck, Tapered fin...	ORPHA:444072
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Craniofacioskeletal Syndrome	Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Atrial...	OMIM:300712
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Ragged-red muscle fibers,...	ORPHA:17
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Short nose, Open mouth	OMIM:300143
Waardenburg Syndrome, Type 3	Mandibular prognathia, Scapular winging, Partial albinism, Camptodactyly of finger, Synophrys, Bl...	OMIM:148820
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Al...	OMIM:277440
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Perlman Syndrome	Nephrogenic rest, Renal hamartoma, Nephroblastomatosis, Interrupted aortic arch, Nephroblastoma	OMIM:267000
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog...	OMIM:606612
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia	ORPHA:46532
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo...	OMIM:144750
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum, Over...	OMIM:619142
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum	ORPHA:90653
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis	OMIM:619111
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge	OMIM:300676
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysi...	ORPHA:166272
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog...	ORPHA:2878
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Hypospadias, Parachute mitral valve, Patent ductus arteriosus, Atrial ...	OMIM:618316
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Inguinal hernia, Down-sloping shoulders, Metatarsus adductus, Trism...	OMIM:227330
Flynn-Aird Syndrome	Increased bone mineral density, Alopecia, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteopo...	OMIM:136300
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo...	ORPHA:93346
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Narrow mouth, Short nose, Abnormal palate morphology, Micrognathia	ORPHA:1495
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Koolen-De Vries Syndrome	High palate, Widely spaced teeth, Prominent fingertip pads, Iris hypopigmentation, Vertebral fusi...	OMIM:610443
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, S...	OMIM:619356
Congenital Heart Block	Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Patent fora...	ORPHA:60041
Femoral-Facial Syndrome	Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:1988
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, T...	OMIM:249620
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he...	DECIPHER:39
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Scapular winging, Hyperlordosis, Abnormality of hair texture, Micrognat...	ORPHA:73223
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Broad nasal tip, High palate, Lon...	OMIM:613544
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Pycnodysostosis	Ridged nail, Persistent open anterior fontanelle, Increased bone mineral density, Aplastic clavic...	OMIM:265800
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Hypopigmentation of th...	ORPHA:2786
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Dent...	OMIM:608940
Desbuquois Syndrome	Genu recurvatum, Camptodactyly of finger, Coxa valga, Short neck, Accelerated skeletal maturation...	ORPHA:1425
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Carious teeth, Atrophic scars, Nail dystrophy, Nail dysplasia, Enamel hypoplasia, Fai...	OMIM:226700
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Micrognathia	ORPHA:1514
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Lateral Meningocele Syndrome	Smooth philtrum, Vertebral fusion, Inguinal hernia, Dental crowding, Short neck, Micrognathia, Ky...	OMIM:130720
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior ha...	OMIM:212720
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours...	ORPHA:3427
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Abnormal ...	ORPHA:1716
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena...	ORPHA:2970
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Palmoplantar hyp...	OMIM:257980
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Short neck, Patent ductus arteriosus, Perimembranous ventricular septa...	OMIM:158170
Clark-Baraitser Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Down...	OMIM:617752
W Syndrome	Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Elbow dislocation, Submu...	ORPHA:2804
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Broad nasal tip, Hypoplasia of the maxilla, Wide nasal bridg...	OMIM:620157
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Keipert Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Prominent nasal brid...	ORPHA:2662
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers...	OMIM:227270
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Intracranial hemorrhage, Interr...	ORPHA:163979
Maternal Phenylketonuria	Ventricular septal defect, Abnormal renal morphology, Coarctation of aorta, Abnormal heart morpho...	ORPHA:2209
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum	ORPHA:438178
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Fle...	ORPHA:88630
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypopla...	ORPHA:763
Buerger Disease	Vasculitis, Acrocyanosis	ORPHA:36258
Waardenburg Syndrome Type 1	Mandibular prognathia, Hypopigmentation of hair, White eyelashes, White eyebrow, Tented upper lip...	ORPHA:894
Kbg Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Short neck, Synophrys, Low anterior ...	OMIM:148050
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Wi...	OMIM:613604
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Thin vermilion border, High palate, Short philtrum, Long philtrum...	OMIM:617991
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Absent...	ORPHA:3258
Lujan-Fryns Syndrome	Dental crowding, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of ...	ORPHA:776
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Down-sloping shoulders, Carious teeth, Synophrys, Joint hype...	ORPHA:1390
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Reduced bone mineral density, Hernia, Abnormal dental enamel morph...	ORPHA:582
Monosomy 13Q34	Common atrium, Pulmonic stenosis	ORPHA:96168
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Underdeveloped nasal alae...	ORPHA:438216
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Narrow ...	ORPHA:2412
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Genu recurvatum, Malar flattening, Kyphosis, Narrow palate, ...	ORPHA:364028
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Pierpont Syndrome	Wide nose, Broad nasal tip, Broad philtrum, Prominent median palatal raphe, Thin vermilion border...	OMIM:602342
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Patchy alopec...	OMIM:141300
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Tetralogy of Fallot, Hypospadias	ORPHA:1381
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Microdontia	OMIM:610706
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Highly ...	ORPHA:263463
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Congenital Disorder Of Glycosylation, Type Iu	Elevated hepatic transaminase, Thin upper lip vermilion, Micrognathia, High palate, Short nose	OMIM:615042
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short philtrum, Talipes...	OMIM:617333
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Wide nasal bridge, Long philtrum, Short nose, Broad philtrum	OMIM:618577
Transaldolase Deficiency	Coarctation of aorta, Biventricular hypertrophy, Telangiectasia, Atrial septal defect, Premature ...	ORPHA:101028
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Patent du...	ORPHA:1120
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, ...	OMIM:180849
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Widely-spaced incisors, Fine hair, Woolly scalp hair...	ORPHA:79414
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Joi...	ORPHA:2167
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Short neck, Micrognathia, Abnormal form o...	ORPHA:233
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Trun...	ORPHA:261330
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morpho...	ORPHA:1926
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car...	OMIM:608836
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Abnormal intervertebral disk morphology, Abnormal fingernail morphology, Hypop...	ORPHA:2701
Diamond-Blackfan Anemia 6	Macrocytic anemia, Micrognathia, Cleft upper lip, Short thumb, Retrognathia, Cleft palate, Persis...	OMIM:612561
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the hand, Abnormality of the dentition, Super...	ORPHA:1264
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Sparse hair, Dystrophic fingernails, Anodon...	ORPHA:3253
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis	ORPHA:280356
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Long nose, Proximal/middle symphalangism of 5th finger, Fused cervi...	OMIM:184460
Naegeli-Franceschetti-Jadassohn Syndrome	Reticulated skin pigmentation, Palmoplantar hyperkeratosis, Fragile nails, Premature loss of teet...	ORPHA:69087
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Death in infancy, Short neck, Secundum atrial septal defect, Jaundice, E...	OMIM:608779
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors	ORPHA:397973
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Aredyld Syndrome	Mandibular prognathia, Smooth philtrum, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental e...	ORPHA:1133
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Pentasomy X	Camptodactyly of finger, Micrognathia, Small hand, Wide nasal bridge, Short foot, Radioulnar syno...	ORPHA:11
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Oral ulcer, Reduced bone mineral densi...	OMIM:617052
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Sparse eyelashes, Short neck, Micrognathia, High, narrow palate, Delayed skele...	ORPHA:1787
Cardiofaciocutaneous Syndrome	Brittle hair, Short neck, High palate, Sparse hair, Dystrophic fingernails, Abnormal morphology o...	ORPHA:1340
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Short neck, Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Oligodon...	ORPHA:391408
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosi...	ORPHA:1724
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont...	ORPHA:364577
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala...	OMIM:614069
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Meckel Syndrome, Type 3	Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He...	OMIM:607361
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang...	OMIM:609616
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t...	ORPHA:248
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Primary Pulmonary Hypoplasia	Cyanosis, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atrial septal defect, Hypoxem...	ORPHA:2257
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93950
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip...	OMIM:618395
Congenital Tricuspid Valve Dysplasia	Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp...	ORPHA:555874
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Cardiomyopath...	ORPHA:157
Axenfeld-Rieger Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Everted lower lip vermilion...	ORPHA:782
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cor triatriatum, Ventricular septal defect, Dextrocardia, Aqueductal stenosis, Situs inversus tot...	OMIM:619534
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Mi...	OMIM:269300
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph...	ORPHA:884
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Codas Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Anteverted ...	ORPHA:1458
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Thin upper lip vermilion, Depressed nasal bridge, Choanal atresia, Portal hypertens...	OMIM:610199
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Thin upper lip vermilion, Micrognathia, Wide mouth, Short nose, Smooth philtrum	OMIM:615419
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, M...	ORPHA:79405
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, High, narrow palate, Hypopigm...	ORPHA:53271
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Dominant Beta-Thalassemia	Depressed nasal bridge, Malar prominence, Hypersplenism, Splenomegaly, Jaundice, Abnormality of t...	ORPHA:231226
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Retinal pigmen...	OMIM:617102
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Downturned corners of mouth, Thin vermilion bord...	ORPHA:1895
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tubular epitheli...	ORPHA:228308
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Craniosynostosis, Elbow dis...	ORPHA:93329
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, High palate, Prominent nasal bridge	ORPHA:85279
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl...	OMIM:605432
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular septal defect, D...	OMIM:618651
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Dental crowding, Increased s...	ORPHA:2457
Trichorhinophalangeal Syndrome Type 1	Micrognathia, Short metatarsal, High palate, Sparse hair, Clinodactyly of the 5th finger, Short m...	ORPHA:77258
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Coarse hair, Join...	ORPHA:1883
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Cholestasis, Orofacial cleft, Hepatic fibrosis, Hepatic failure	OMIM:615630
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Micrognathia, Long philtrum, Malar flattening, Short nose	ORPHA:93328
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Wide nose, Depressed nasal ridge, Short nose	ORPHA:2831
Isolated Dandy-Walker Malformation	Tetralogy of Fallot	ORPHA:217
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Craniolenticulosutural Dysplasia	Brittle hair, Hypoplasia of the maxilla, Abnormality of skin pigmentation, Coarse hair, High pala...	ORPHA:50814
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Cardiomyopathy, Dilated, 2H	Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Underdeveloped nasal alae, Carious teet...	OMIM:311200
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology	ORPHA:3222
Taurodontism	Taurodontia	OMIM:272700
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal agenesis, Renal hypoplasia/aplas...	ORPHA:2538
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulde...	OMIM:109400
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Convex nasal ridge, Abnormal palate...	ORPHA:93262
Aspartylglucosaminuria	Mandibular prognathia, Inguinal hernia, Abnormal morphology of ulna, Joint stiffness, Abnormality...	ORPHA:93
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal fingernail morphology, Abnormal ...	ORPHA:1028
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co...	ORPHA:2876
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens...	ORPHA:98913
Transketolase Deficiency	Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P...	ORPHA:488618
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Isolated Right Ventricular Hypoplasia	Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Pate...	ORPHA:439
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ...	OMIM:164900
Oslam Syndrome	Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu...	ORPHA:2760
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Renal tubular dysf...	OMIM:614886
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Anteverted nares, Portal hypertension, Splenomegaly,...	OMIM:216360
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Facial palsy, Spina bifida, Short neck, Ventricular septal defect, Atriove...	ORPHA:508498
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose	OMIM:300581
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Highly arched eyebrow, Accelerated skeletal maturatio...	OMIM:617190
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly	OMIM:619858
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology	ORPHA:1540
Hydrocephaly-Low Insertion Umbilicus Syndrome	Abnormality of the urinary system, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmo...	ORPHA:2184
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, Po...	ORPHA:371428
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Open bite, Abnormality of dental...	ORPHA:1327
Neuralgic Amyotrophy	Scapular winging, Acrocyanosis	ORPHA:2901
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3-Methylglutaric ac...	ORPHA:26791
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Shoulder gi...	OMIM:607155
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Neutropenia	ORPHA:90023
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Increased...	ORPHA:1798
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te...	OMIM:248370
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul...	OMIM:108900
Achondrogenesis	Long philtrum, Short nose, Anteverted nares, Micrognathia	ORPHA:932
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Ventricular septal defect, Hypospadias, Vesicoureteral reflux, Micr...	OMIM:301056
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode	OMIM:610992
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney...	OMIM:606232
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E...	ORPHA:2249
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Atrial septal defect, Tetra...	OMIM:612946
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Inguinal hernia, Bilateral single transverse palmar creases...	ORPHA:1786
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Syndromic Diarrhea	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Abn...	ORPHA:84064
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ...	OMIM:601224
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Abnormality of the subungual region, Abnormality of skin pi...	ORPHA:79411
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Short columella, Thin vermilion border, L...	ORPHA:171839
Obesity Due To Prohormone Convertase I Deficiency	Increased adipose tissue, Delayed skeletal maturation, Obesity, Red hair, Failure to thrive, Hypo...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Increased adipose tissue, Delayed skeletal maturation, Obesity, Red hair, Failure to thrive, Hypo...	ORPHA:71526
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Joubert Syndrome 39	Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Non-Distal Duplication 13Q	Micrognathia, Abnormality of the dentition, Thin vermilion border, High palate, Everted lower lip...	ORPHA:1702
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:122600
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, M...	ORPHA:79406
Mungan Syndrome	Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:611376
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Orofacial c...	OMIM:194190
Beta-Thalassemia Major	Hepatomegaly, Depressed nasal bridge, Malar prominence, Hypersplenism, Splenomegaly, Jaundice, Ab...	ORPHA:231214
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Abnormality of...	ORPHA:560
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Downturned ...	ORPHA:391372
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Ulnar deviation of the hand, Limb joint contractur...	OMIM:612079
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Central cyanosis, Ascending tubular aorta aneurysm, Pulmonic stenosis, Sub...	OMIM:620067
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot, Hypospadias	ORPHA:276422
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Ulnar bowi...	OMIM:619135
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ...	OMIM:616867
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Synophrys, Short philtrum, Joint contracture of the ...	ORPHA:363611
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, A...	ORPHA:373
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Short thumb, Hypoplasia of th...	ORPHA:2319
Pfeiffer Syndrome	Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th...	OMIM:101600
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
Acromicric Dysplasia	Anteverted nares, Bulbous nose, Thick lower lip vermilion, Narrow mouth, Short nose, Long philtrum	ORPHA:969
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Cleft palate, Dow...	ORPHA:163649
Cadds	Elevated hepatic transaminase, Cholangitis, Micrognathia, Cholestasis, Short nose	ORPHA:369942
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Long phil...	ORPHA:228396
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac ventricle morpho...	ORPHA:2306
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:1388
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar...	ORPHA:2396
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge, Short philtrum, Everted lowe...	OMIM:601499
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Tapered finger, Micrognathia, Synophrys, Narrow mouth, Wide nasal bridge, Obesity, Fi...	OMIM:620250
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Craniosynostosis, Herrmann-Opitz Type	Micrognathia, Cleft palate, Malar flattening, Short nose, Convex nasal ridge	ORPHA:2145
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Cleft palate, Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia,...	OMIM:616738
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, 2-3...	ORPHA:2712
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Microdontia,...	OMIM:129400
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,...	OMIM:164280
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening,...	ORPHA:79113
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, Transposition of the great arteries, Atrial septal defect...	ORPHA:1913
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss...	OMIM:146300
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:214110
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ...	OMIM:610915
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial se...	OMIM:618652
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Failure to...	ORPHA:783
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Microdontia, Hepatic fibrosis, Oral leukoplakia	OMIM:224230
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Cor pulmonale	OMIM:263000
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Low anterior hair...	OMIM:617137
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Pancytopenia, Increased bone mineral density, Femur frac...	OMIM:259700
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Ovoid vertebral bodies, Metaphys...	OMIM:260400
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr...	OMIM:616652
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Hamamy Syndrome	Osteopenia, Microcytic anemia, Micrognathia, High palate, Sparse hair, Clinodactyly of the 5th fi...	OMIM:611174
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar...	OMIM:219730
17P13.3 Microduplication Syndrome	Wide nose, High palate, Short nose, Narrow mouth	ORPHA:217385
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Cleft palate, Low posterior hairline, Scoliosis, Cervical C2/C3 vertebral fusion, Abn...	OMIM:118100
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del...	OMIM:620099
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Fibrochondrogenesis 2	Malar flattening, Short nose, Anteverted nares, Micrognathia	OMIM:614524
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae, Retrognathia, Micrognathia	ORPHA:163961
Acrocephalopolydactyly	Short nose, Depressed nasal ridge, Hepatosplenomegaly	ORPHA:221054
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Overweight, Synophrys, Low ant...	OMIM:617796
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Thin vermilion border, Narrow mouth	ORPHA:2370
Achondrogenesis Type 1B	Long philtrum, Short nose, Anteverted nares, Micrognathia	ORPHA:93298
Cartilage-Hair Hypoplasia	Fair hair, Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Short palm, Neutr...	OMIM:250250
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Abnormal form of the vertebral bodies, Sparse ...	ORPHA:2710
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Lamb-Shaffer Syndrome	Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Thick vermilion border,...	ORPHA:530983
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Palmoplantar hyperkeratos...	OMIM:226670
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard palate, Depressed n...	ORPHA:178303
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy...	ORPHA:79230
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Paten...	OMIM:188400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353281
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel m...	ORPHA:439822
Squalene Synthase Deficiency	Failure to thrive in infancy, Micrognathia, Elbow flexion contracture, Abnormality of hair pigmen...	OMIM:618156
Mpi-Cdg	Hepatomegaly, Hepatic fibrosis, Decreased liver function, Portal hypertension	ORPHA:79319
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Periventricular Nodular Heterotopia 7	Microretrognathia, Anteverted nares, Dental crowding, Micrognathia, Pierre-Robin sequence, Cleft ...	OMIM:617201
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphalangeal thumb j...	OMIM:613870
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Pallister-Hall-Like Syndrome	Median cleft lip, Depressed nasal bridge, Micrognathia, Cleft palate, Microglossia, Short nose	OMIM:241800
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Prolidase Deficiency	Hepatomegaly, Depressed nasal bridge, Elevated circulating aspartate aminotransferase concentrati...	OMIM:170100
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Hypoplastic ischia, Increased vertebral heigh...	ORPHA:2616
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Macroglossi...	OMIM:242860
Harderoporphyria	Increased circulating ferritin concentration, Neonatal hyperbilirubinemia	OMIM:618892
Noonan Syndrome 8	Atrial septal defect, Ventricular septal defect, Short neck, Patent ductus arteriosus, Pulmonic s...	OMIM:615355
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Chondrodysplasia, Blomstrand Type	Stillbirth, Preductal coarctation of the aorta	OMIM:215045
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Short nose	OMIM:614078
Baker-Gordon Syndrome	Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum	OMIM:618218
Senior-Loken Syndrome	Congenital hepatic fibrosis	ORPHA:3156
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia, Hepatic failure	ORPHA:3196
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst	OMIM:263630
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Micrognathia	ORPHA:2547
Meckel Syndrome 14	Microretrognathia, Anteverted nares, Micrognathia, Hepatic fibrosis, Retrognathia	OMIM:619879
Gaucher Disease, Type Ii	Double aortic arch	OMIM:230900
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistul...	OMIM:620024
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Accelerated skel...	OMIM:130070
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Depressed nasal bridge, Cholangitis, Accessory oral frenulum, Micrognathia, Pancrea...	OMIM:266920
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglo...	ORPHA:261144
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Abnormal fingernail morphology, Camptodactyly of finger, Abnor...	ORPHA:3138
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Congenital hepatic fibrosis, Glossoptosis, Short nose	ORPHA:2031
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Achondrogenesis Type 1A	Long philtrum, Short nose, Anteverted nares, Micrognathia	ORPHA:93299
Fanconi Anemia, Complementation Group O	Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology	OMIM:613390
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Wide anterior fontanel, Thin vermilion border, High palate, Malar flattening, S...	OMIM:601853
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Synophrys, Hemivertebrae, Coxa vara, Clinodactyly of the 5th fin...	OMIM:614701
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Short neck, Retinal...	ORPHA:567
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Micrognat...	OMIM:309520
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose	OMIM:618379
Fanconi Anemia, Complementation Group I	Decreased body weight, Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cer...	OMIM:609053
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Congenital Rubella Syndrome	Ventricular septal defect, Patent ductus arteriosus, Jaundice, Atrial septal defect, Abnormality ...	ORPHA:290
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge	OMIM:167730
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Osteomyelitis, Failure to thrive in infancy, Splenomegaly, Periostitis,...	OMIM:612852
Nager Syndrome	Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft ...	ORPHA:245
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi...	OMIM:602471
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Platyspondyly, Scol...	OMIM:126550
Acrofacial Dysostosis, Catania Type	Single transverse palmar crease, Carious teeth, Widow's peak, Short palm, Spina bifida occulta	OMIM:101805
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect	OMIM:126320
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Low anterior hairline, Downtur...	ORPHA:79500
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Ogden Syndrome	Torticollis, Redundant neck skin, Prematurely aged appearance, Left atrial enlargement, Facial wr...	OMIM:300855
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cutis marmorata, Transient ischemic attack, Subarachnoid hemorrhage, Bicuspid aortic valve, Cardi...	ORPHA:91387
Harel-Yoon Syndrome	Mandibular prognathia, Short nose, Micrognathia	OMIM:617183
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Brittle hair, Congenital hip dislocation, Lipodystrophy, Abnormality of hair tex...	OMIM:219200
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Red hair, Atypical scarring of skin, Scoliosis, Palmopl...	OMIM:229200
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L...	OMIM:615866
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi...	ORPHA:1765
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Charge Syndrome	Aortic arch aneurysm, Patent ductus arteriosus, Horseshoe kidney, Abnormal cardiac septum morphol...	ORPHA:138
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Coa...	ORPHA:2044
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Wide nasal bridge, Hepatic fibrosis, Cirrhosis, Convex nasal ridge	OMIM:601539
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Short nose, High palate, Wide nasal bridge	OMIM:218000
Camurati-Engelmann Disease	Reduced subcutaneous adipose tissue, Mandibular prognathia, Increased bone mineral density, Lower...	OMIM:131300
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Trisomy 12P	Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted lower lip ver...	ORPHA:1699
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Bulbous nose, Abnormal intrahepatic bile duct morphology, Wide mouth, Thin v...	ORPHA:485405
Caudal Regression Syndrome	Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Orofacial clef...	ORPHA:3027
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, R...	ORPHA:89936
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Kyphoscoliosis, Tapered finger, Short neck, Micrognathia, Narrow mouth, Carious teeth...	OMIM:272430
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ...	OMIM:613443
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Micrognathia...	OMIM:616331
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Teebi Hypertelorism Syndrome 1	Natal tooth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding,...	OMIM:145420
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Short nose, Thic...	OMIM:300558
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal cardiac sept...	ORPHA:2059
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Inguinal hernia, Overlapping toe, Sparse eyelashes, Microgna...	OMIM:613026
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-midline cleft lip, Cleft palate, Mi...	ORPHA:1915
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, Micrognathia, Deep philtru...	ORPHA:329178
Wolcott-Rallison Syndrome	Atrial septal defect, Renal insufficiency, Double outlet right ventricle, Chronic kidney disease	ORPHA:1667
Joubert Syndrome 18	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:614815
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Short neck, Patent ductus arteriosus, Muscular ventricular septal defect, ...	OMIM:612474
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia...	ORPHA:3035
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Synophrys, ...	ORPHA:199
Peho Syndrome	Tented upper lip vermilion, Short nose, Retrognathia, Open mouth	OMIM:260565
Crouzon Syndrome	Hypoplasia of the maxilla, Convex nasal ridge, Choanal atresia, Narrow palate	ORPHA:207
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Epistaxis, Dental crowding, Broad nasal tip, Hypoplasia of the maxilla, R...	ORPHA:293939
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness	OMIM:207950
Distal Deletion 15Q	Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r...	ORPHA:1596
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl...	ORPHA:2473
Miller-Dieker Syndrome	Abnormal upper lip morphology, Short nose, Anteverted nares	ORPHA:531
Chops Syndrome	Curly hair, Thick hair, Splenomegaly, Synophrys, High, narrow palate, Obesity, Downturned corners...	OMIM:616368
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Vasculitis, Hematuria, Aortic dissection, Double outlet right ...	ORPHA:397
Kagami-Ogata Syndrome	Hepatomegaly, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:608149
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen...	OMIM:142900
Joubert Syndrome 20	Renal cyst	OMIM:614970
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal b...	OMIM:106260
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Micrognathia, Biliary hyperplasia, Congenit...	ORPHA:731
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Anosmia, Hypoplasia of the zygomatic bone, Abnormal nostril morphology,...	ORPHA:1295
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia	OMIM:235555
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi...	OMIM:617865
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia	OMIM:269920
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Malar flattening, Short nos...	OMIM:616420
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Cleft soft palate, Micrognathia, Broad nasal tip, Abnormality of the dentition,...	OMIM:618529
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Downturned corner...	ORPHA:369891
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of teeth, Hypopho...	OMIM:613312
Cranioectodermal Dysplasia 1	Hepatomegaly, Anteverted nares, Malformation of the hepatic ductal plate, High, narrow palate, Wi...	OMIM:218330
Cardiomyopathy, Dilated, 2G	Increased Z-disc width, Left atrial enlargement, Myocardial sarcomeric disarray, Cerebral hemorrh...	OMIM:619897
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Wide nasal bridge, Prematu...	OMIM:193510
Congenital Pulmonary Lymphangiectasia	Cyanosis, Pulmonic stenosis, Chylopericardium	ORPHA:2414
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Short neck, Micrognathia, Synophrys, Tra...	OMIM:613458
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia	OMIM:166300
Toluene Embryopathy	Micrognathia, Thin vermilion border, Hypoplasia of the zygomatic bone, Short nose, Smooth philtrum	ORPHA:1920
Donohue Syndrome	Thick lower lip vermilion, Gingival overgrowth, Cholestasis, Wide mouth, Hepatic fibrosis, Pancre...	OMIM:246200
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, High ...	OMIM:268400
Laurence-Moon Syndrome	Congenital hepatic fibrosis	ORPHA:2377
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Short neck, Micrognathia, Tibial bowing, Femora...	OMIM:601559
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Micrognathia, Bulbous nose, Wi...	OMIM:617061
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hyperbilirubinemia	OMIM:214950
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal death, Death in infancy, Cyanosis, Misalignment of the pulmonary veins	OMIM:265120
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Thick vermilion border, Long philtrum	ORPHA:833
Femoral-Facial Syndrome	Renal agenesis, Ventricular septal defect, Abnormal renal collecting system morphology, Micropeni...	OMIM:134780
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Hypopigmentation of hair, Obesity, Wide mouth, Hypopigmentation of the ski...	ORPHA:411515
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Abnormality of the dentition, Osteoporosis, Abnormality of hair pi...	ORPHA:90354
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Craniolenticulosutural Dysplasia	Osteopenia, Brittle hair, Coarse hair, High palate, Sparse hair, Bifid uvula, Joint laxity, Wide ...	OMIM:607812
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Depressed nasal bridge, Antevert...	ORPHA:192
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,...	OMIM:620076
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic failure, Hepatic fibrosis, Cirrhosis	OMIM:602579
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Persistence of primary teeth, H...	OMIM:170390
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Portal hypertension	OMIM:617341
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts...	OMIM:267010
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Delayed skeletal maturation, S...	ORPHA:93324
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Short neck, Accelerated skeletal maturation, Microgn...	OMIM:245600
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor	OMIM:616390
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro...	OMIM:616860
Trichohepatoenteric Syndrome 1	Hepatomegaly, Wide nose, Anteverted nares, Abnormality of the pancreas, Splenomegaly, Jaundice, D...	OMIM:222470
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Short philtrum, Decreased liver function, Prolonged neonatal...	OMIM:618437
Congenital Total Pulmonary Venous Return Anomaly	Cyanosis, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Cardiomegaly, Mitral a...	ORPHA:99125
Alg3-Cdg	Coarctation of the descending aortic arch, Macroglossia, Neural tube defect, Cardiomyopathy, Arth...	ORPHA:79321
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Depressed nasal bridge, Portal hypertension, Mic...	OMIM:620005
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Abnormality of skin pigmen...	ORPHA:84
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra...	OMIM:613686
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Wide nasal bridge, Orofacial cleft, ...	OMIM:243310
Meckel Syndrome, Type 6	Absent gallbladder, Cleft upper lip, Cleft palate, Cystic liver disease, Bile duct proliferation,...	OMIM:612284
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Down-sloping shoulders, Abnorm...	ORPHA:96263
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Breath-Holding Spells	Cyanosis	OMIM:607578
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Hypospadias, Coarctation of aorta	ORPHA:1923
Monosomy 18P	Alopecia, Kyphoscoliosis, Short neck, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palat...	ORPHA:1598
Senior-Loken Syndrome 9	Hepatic fibrosis, Cholestasis	OMIM:616629
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Bulbous nose, Palate fi...	OMIM:616788
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:300887
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration	ORPHA:79303
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Wide nasal bridg...	ORPHA:2884
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, High palate, Premature l...	OMIM:102500
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Jaundice, Macroglossia, Concave nasal ridge, Prolonged ...	OMIM:613038
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the kidney, Unilateral renal agenesis, Complete atriove...	ORPHA:508488
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353277
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Sparse eyelashes, Micrognathia, Cleft palate, Persistence of hemoglobin F, Inc...	OMIM:300946
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den...	ORPHA:659
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and ...	ORPHA:1997
Distal Duplication 5Q	Prominent nasal bridge, Micrognathia, Carious teeth, Thin vermilion border, Aplasia/Hypoplasia of...	ORPHA:96097
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Oral mucosal blisters, Carious teeth, Atypical scarring of skin, ...	ORPHA:79410
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen...	ORPHA:1600
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Micrognathia	ORPHA:1129
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Anteverted nares, Prominent nasal bridge, Portal hyp...	ORPHA:1454
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Ventricular septal defect, Renal cyst, Polycystic kidney dysplasia, Atrial septal de...	OMIM:614866
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla	ORPHA:3044
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p...	OMIM:615716
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Cleft palate, Wide nose, Short nose	OMIM:614261
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Short nose, Retrognath...	ORPHA:561
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Momo Syndrome	Delayed eruption of teeth, Hyperconvex nail, Short neck, Delayed skeletal maturation, Thick lower...	OMIM:157980
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Macroglossia, Glos...	ORPHA:2221
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dela...	ORPHA:819
Bone Marrow Failure Syndrome 6	Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co...	OMIM:618849
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ...	OMIM:619149
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Anemia of inadequate production, Carious teeth, Splenomegaly, Delayed skeletal matura...	OMIM:612714
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse...	OMIM:607323
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Proximal placement of thumb, Limited elb...	OMIM:261540
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Underdeveloped nasal alae, Abnormality of the dentition, Abnormality o...	ORPHA:2315
Alg9-Cdg	Microretrognathia, Hepatomegaly, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridg...	ORPHA:79328
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Camptodactyly of finger, Joint stiffness, White hair, Abnormal finger...	ORPHA:896
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia...	OMIM:164200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Micrognathia, Depressed nasal ridge, Wide mouth, Short philtrum, Short nose	ORPHA:163966
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Anemia of inadequate production, Absent thumb, Un...	OMIM:614900
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Prolidase Deficiency	Abnormality of retinal pigmentation, Arachnodactyly, Abnormal fingernail morphology, Micrognathia...	ORPHA:742
Bartsocas-Papas Syndrome 1	Short neck, Hypoplasia of the maxilla, Micrognathia, Flexion contracture, Hypoplastic iliac wing,...	OMIM:263650
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular...	OMIM:617168
Contractural Arachnodactyly, Congenital	Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductus arte...	OMIM:121050
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion...	OMIM:619854
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami...	OMIM:300972
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin	OMIM:232800
Distal Deletion 12Q	Ectopic kidney, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Polycystic ki...	ORPHA:96149
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Cutaneous finger syndactyly, High pa...	OMIM:211380
Bartsocas-Papas Syndrome	Median cleft lip, Micrognathia, Underdeveloped nasal alae, Cleft palate, Narrow mouth, Short nose	ORPHA:1234
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal...	ORPHA:2041
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Hypoplasia...	OMIM:300534
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b...	OMIM:151210
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Open...	ORPHA:1974
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Double outlet right ventricle, ...	ORPHA:163956
Congenital Tracheal Stenosis	Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypopl...	ORPHA:141127
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Mycetoma	Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Bone cyst, Osteoporos...	ORPHA:2583
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Smooth philtrum, Arachnodactyly, Sandal gap, Congenital diaphragma...	OMIM:617602
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Short neck, Increased nuchal translucency, Patent ductus arteriosus, M...	OMIM:615668
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent...	OMIM:119600
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta...	ORPHA:3092
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Patent ductus arteriosus, Abnormality of the ureter, C...	OMIM:249000
Diamond-Blackfan Anemia 8	Short nose, Thick upper lip vermilion, Wide nasal bridge	OMIM:612563
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Cholestasis, P...	ORPHA:264580
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Momo Syndrome	Delayed eruption of teeth, Hyperconvex nail, Short neck, Large for gestational age, Thick lower l...	ORPHA:2563
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Short nose, Depressed nasal bridge, Micrognathia	OMIM:617802
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Failure to thrive, Aplastic anemia, Abnormality of the dentition, Reticulated skin ...	OMIM:613989
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Wide an...	OMIM:601390
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F...	OMIM:207410
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Thickened nuchal skin fold, Limb joint contracture, Ankle flexion contracture, Short neck, Knee f...	ORPHA:284417
Aortic Aneurysm, Familial Thoracic 12	Ascending tubular aorta aneurysm, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic d...	OMIM:619825
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Micrognathia, Conical tooth, Hyperconvex fingernails, Coarse hair, Widely spaced teeth, Sparse ha...	ORPHA:1071
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy	ORPHA:444013
Noonan Syndrome 11	Palmoplantar cutis laxa, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Hyperlord...	ORPHA:3353
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla	OMIM:608154
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C...	OMIM:620107
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Albinism, Gingival bleeding, Hypopigmentation of the skin, Abnormal num...	OMIM:614072
Congenital Fibrinogen Deficiency	Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v...	ORPHA:335
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia, Kyphoscoliosis	ORPHA:466722
Poikiloderma With Neutropenia	Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Carious teeth, Splenomegaly, Rec...	OMIM:604173
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Carious teeth, Delayed skeletal maturation, Small han...	OMIM:244460
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Anomalous pulmonary venous return, ...	ORPHA:99104
Trigonocephaly 1	High, narrow palate, Short nose, Wide nasal bridge, Long philtrum	OMIM:190440
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Mitral valve prolapse, Aor...	ORPHA:171881
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Short nose, Micrognathia, Prominent nasal bridge, Underdeveloped nasal alae	ORPHA:2083
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short neck, Coronary ar...	OMIM:614294
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia	OMIM:613280
Aarskog-Scott Syndrome	Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Cu...	OMIM:305400
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Aicardi Syndrome	Abnormality of retinal pigmentation, Prominence of the premaxilla, Block vertebrae, Hiatus hernia...	ORPHA:50
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Micrognathi...	ORPHA:2879
Diamond-Blackfan Anemia 1	Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Tripha...	OMIM:105650
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Hereditary Methemoglobinemia	Small for gestational age, Lip discoloration, Methemoglobinemia, Abnormality of the nail	ORPHA:621
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Patent ductus arter...	OMIM:616866
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal fingerna...	ORPHA:3220
Lelis Syndrome	Mandibular prognathia, Yellow nails, Carious teeth, Perioral hyperpigmentation, Absent lower eyel...	ORPHA:140936
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Facial hypotonia, Abnormal cardiac ventricle morphology, Hypopl...	ORPHA:261311
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen...	ORPHA:3214
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Hepatomegaly, Tented upper lip vermilion, Anteverted nares, Wide nasal bridg...	OMIM:619383
Bardet-Biedl Syndrome	Hepatic fibrosis, Prominent nasal bridge	ORPHA:110
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Prolonged neonatal jaundice, Short ...	OMIM:618828
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cleft palate, Downt...	OMIM:618571
Craniofaciofrontodigital Syndrome	Atrial septal defect, Prominent superficial veins, Anomalous branches of internal carotid artery,...	ORPHA:363705
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Narrow mouth,...	ORPHA:1790
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Camptodactyly	OMIM:301039
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Asbestos Intoxication	Cyanosis, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Oxygen desaturation on exertion	ORPHA:2302
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Wide anterior fontanel, Open mouth, Wide mouth,...	OMIM:616638
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Pulmonary arteriovenous malform...	OMIM:610655
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial...	OMIM:304120
Prader-Willi Syndrome	Osteopenia, Downturned corners of mouth, Short palm, Hypopigmentation of the skin, Iris hypopigme...	OMIM:176270
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Submucous cleft hard palate, Retrognathia, Low posterior hairline, Fused cervical vertebrae, Cafe...	OMIM:619227
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di...	OMIM:619371
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect, Stroke	ORPHA:49827
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Underdeveloped nas...	OMIM:209885
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Ventricular septal defect, Bicuspid aortic valve, Hypos...	ORPHA:261494
Faciocardiomelic Syndrome	Common atrium	OMIM:612731
Prader-Willi Syndrome Due To Translocation	Short neck, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the 5th finge...	ORPHA:177907
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivertebrae, Orofacial cleft, High p...	ORPHA:958
Wildervanck Syndrome	Fused cervical vertebrae, Low posterior hairline, Short neck	ORPHA:3456
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares, Short philtrum, Open mouth	ORPHA:228384
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Thin upper lip vermilion, Prominent nose, Micrognathia, Bulbous nose, Depr...	OMIM:156200
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Atrial septal ...	OMIM:619769
Autism Spectrum Disorder Due To Auts2 Deficiency	Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th finger, Atrial se...	ORPHA:352490
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition,...	OMIM:608156
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Odontomicronychial Dysplasia	Thin nail, Short nail, Abnormality of the dentition, Carious teeth, Premature loss of primary tee...	ORPHA:1811
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Death in infancy, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic aneu...	OMIM:620070
Van Maldergem Syndrome 2	Irregular dentition, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Hypoplasia...	OMIM:615546
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognathia, Aplastic zy...	OMIM:616462
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Hypoplastic toenails, Synophrys, Downturned corners of mouth, Glossoptosis, High pa...	ORPHA:444077
Klippel-Trénaunay Syndrome	Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus...	ORPHA:90308
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepatic bile duct morp...	ORPHA:186
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Micropenis, Polycystic kidney dysplasia	OMIM:616546
Noonan Syndrome 2	Atrial septal defect, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect...	OMIM:605275
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Hypermelanotic macule, Abnormal prima...	ORPHA:1830
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice...	OMIM:617093
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Isolated Cleft Lip	Macrodontia, Small for gestational age, Bilateral cleft lip, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Short nose, Micrognathia	ORPHA:496790
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ...	ORPHA:2062
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Cle...	OMIM:239300
Tetrasomy 5P	Anteverted nares, Micrognathia, Wide anterior fontanel, Wide nasal bridge, High palate, Long phil...	ORPHA:3309
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Hepatic fibros...	ORPHA:79240
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Perimembranous ventricular septal defect	OMIM:606812
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hype...	OMIM:615279
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure...	ORPHA:541423
Ane Syndrome	Alopecia, Multiple joint contractures, Ulnar deviation of the hand, Lipoatrophy, Kyphoscoliosis, ...	ORPHA:157954
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex...	ORPHA:3103
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand p...	ORPHA:2920
Even-Plus Syndrome	Bifid nasal tip, Depressed nasal ridge, High palate, Hypodontia, Short nose	OMIM:616854
Pterygium Colli, Isolated	Short nose	OMIM:177990
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Noonan Syndrome 10	Atrial septal defect, Ventricular septal defect, Short neck, Increased nuchal translucency, Paten...	OMIM:616564
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Short nose	OMIM:200995
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, Absent nasal bridg...	ORPHA:261211
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Bulbous nose, High palate, ...	OMIM:614105
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Thin vermilion border, High palate, Lo...	ORPHA:481152
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly	ORPHA:391428
Thanatophoric Dysplasia Type 2	Encephalocele, Increased nuchal translucency, Patent ductus arteriosus, Hydrocephalus, Holoprosen...	ORPHA:93274
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect	OMIM:249270
Diamond-Blackfan Anemia	Pure red cell aplasia, Short neck, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukop...	ORPHA:124
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Pierre-Robin sequ...	OMIM:217980
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Preaxial hand polydactyly, Carious teeth, Cleft palat...	ORPHA:2316
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose	OMIM:618774
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Horseshoe kidney	ORPHA:166035
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Short nose	OMIM:618087
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Short nose	ORPHA:1914
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Charge Syndrome	Atrial septal defect, Overriding aorta, Ventricular septal defect, Renal agenesis, Secundum atria...	OMIM:214800
Tetrasomy 18P	Narrow mouth, Short nose, Thin vermilion border, Long philtrum	ORPHA:3307
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy...	ORPHA:171
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Deviated nasal se...	OMIM:123500
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Cleft palate, Hypoplasia of the zygomatic bone, Narrow mouth, ...	ORPHA:83
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft pa...	ORPHA:1358
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Carious teeth, Osteoporosis, Nail pits, Reticular hyperpi...	OMIM:127550
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Hypoplasia of teeth, N...	OMIM:234050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci...	OMIM:615398
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ...	ORPHA:247585
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Abnormality of upper lip vermillion, Dental crowding, Prominent nasal bridge, Microgna...	ORPHA:251028
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Micropenis, Ventricular septal defect, Polycystic kidney dysplasia	OMIM:263520
Recon Progeroid Syndrome	Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow nasal ridge, Under...	OMIM:620370
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Bainbridge-Ropers Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Under...	OMIM:615485
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia	OMIM:617260
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Coar...	OMIM:210710
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen...	OMIM:619487
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Radial deviation of finger, Anemia	OMIM:165660
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy, Acrocyanosis	ORPHA:2400
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Micrognathia, Persistence of ...	OMIM:617101
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nasal septum, Anosmia, Depressed nasal bridge, Short nose	OMIM:302950
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia...	OMIM:608013
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm...	ORPHA:848
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, Depressed nasal bridge, He...	OMIM:212065
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum...	ORPHA:314655
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis, Short nose, Depressed nasal bridge	ORPHA:210548
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Inguinal hernia, Arachnodactyly, Abnormal thumb morphology, Limitation ...	ORPHA:2719
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Persistent left s...	OMIM:618494
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo...	OMIM:305100
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Premature...	OMIM:616353
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s...	OMIM:614099
Primary Triglyceride Deposit Cardiomyovasculopathy	Increased muscle lipid content, Abnormality of the calf musculature, Abnormal cardiomyocyte morph...	ORPHA:565612
Axial Osteomalacia	Renal cyst	OMIM:109130
8P23.1 Microdeletion Syndrome	Hypospadias, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Ab...	ORPHA:251071
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:601847
Pulmonary Arteriovenous Malformation	Cyanosis, Transient ischemic attack, Pulmonary arteriovenous fistulas, Hypoxemia, Telangiectasia,...	ORPHA:2038
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per...	ORPHA:1775
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Bardet-Biedl Syndrome 17	Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro...	OMIM:615994
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb...	ORPHA:56305
Viss Syndrome	Tortuous cerebral arteries, Prominent superficial blood vessels, Epidural hemorrhage, Right ventr...	OMIM:619472
Donnai-Barrow Syndrome	Wide anterior fontanel, Short nose, Depressed nasal bridge	ORPHA:2143
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Micrognathia, Deep philtrum, Cleft palate, Malar flattening, S...	OMIM:610536
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis	OMIM:201475
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, Palmoplant...	OMIM:612843
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Abnormality of the dentition, Ol...	ORPHA:2095
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
C Syndrome	Hepatomegaly, Anteverted nares, Accessory oral frenulum, Micrognathia, Wide nasal bridge, Wide mo...	OMIM:211750
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten...	OMIM:609008
Grange Syndrome	Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis	OMIM:602531
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Premature grayin...	ORPHA:3322
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Foam cells, Cyanosis	ORPHA:747
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygoma...	ORPHA:1812
Treacher-Collins Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Hyp...	ORPHA:861
Trisomy 13	Ventricular septal defect, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cy...	ORPHA:3378
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
De Barsy Syndrome	Delayed eruption of teeth, Decreased muscle mass, Ventricular septal defect, Progeroid facial app...	ORPHA:2962
20Q11.2 Microduplication Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Tented philtrum, Wide nasal...	ORPHA:363659
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no...	OMIM:229400
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nostrils, Cleft palate, High palat...	OMIM:206920
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Abnormal dental morphology, Abnormality of ...	ORPHA:238468
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Single transverse pal...	ORPHA:83617
Raine Syndrome	Mandibular prognathia, Natal tooth, Depressed nasal bridge, Choanal atresia, Micrognathia, Protru...	OMIM:259775
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Renal agenesis, Pat...	OMIM:220500
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening	OMIM:109120
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Bone Dysplasia, Lethal Holmgren Type	Redundant neck skin, Short neck, Patent ductus arteriosus, Atrial septal defect, Hypertrophic car...	ORPHA:1842
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Absent pulmonary artery, Patent ductus arteriosus, Coarct...	OMIM:600460
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch...	ORPHA:101330
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta	OMIM:614857
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thin vermilion border, Short nose	OMIM:610015
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Short neck, Patent foramen ovale, Patent ductus arteriosus, Hypoplasti...	OMIM:617506
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Low posterior hairl...	OMIM:300963
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep p...	OMIM:619833
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ...	ORPHA:1791
Gapo Syndrome	Hepatomegaly, Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Hig...	OMIM:230740
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Recurrent upper r...	ORPHA:333
Arboleda-Tham Syndrome	Mandibular prognathia, Downturned corners of mouth, Short philtrum, Sparse medial eyebrow, Genu v...	OMIM:616268
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia	OMIM:211600
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Patent ductus arteriosus, Transposition of the great arteries, Ectop...	OMIM:313850
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary artery stenosis, Pat...	OMIM:190685
Adult Syndrome	Sparse scalp hair, Premature loss of permanent teeth, Toe syndactyly, Absent nipple, Fair hair, S...	OMIM:103285
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop...	OMIM:601812
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Pursed lips, Dental crowding, Underdeveloped nasal alae, Whistling appeara...	OMIM:193700
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,...	OMIM:610829
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Renal ...	OMIM:614922
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Cohen Syndrome	Macrodontia, Prominent nasal bridge, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia o...	ORPHA:193
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Short nose, Depressed nasal bridge	OMIM:616910
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Lower-limb joint contracture, Ventricular septal defect	ORPHA:513456
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona...	OMIM:619377
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Ventricular septal defect, Pulm...	OMIM:280000
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Hypocholesterolemia	OMIM:607765
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Hy...	ORPHA:402075
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia	OMIM:266200
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Smooth philtrum, Absent platelet dense granules, Fair hair, Thin ...	OMIM:608233
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Anteverted nares, Micrognathia, Wide nasal bridge, Cleft palate, Unilateral cleft lip, Short nose	OMIM:616897
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom...	OMIM:300912
Joubert Syndrome 1	Anteverted nares, Protruding tongue, Macroglossia, Hepatic fibrosis, Triangular-shaped open mouth	OMIM:213300
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Bloom Syndrome	Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Spotty hypopigmentation, Agenesis...	OMIM:210900
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Complete Atrioventricular Septal Defect	Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Disp...	ORPHA:1329
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hypoplasia of ...	OMIM:276820
Lathosterolosis	Hepatomegaly, Anteverted nares, Micrognathia, Intrahepatic cholestasis, Bulbous nose, Gingival ov...	ORPHA:46059
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Lim...	OMIM:620327
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterio...	OMIM:618870
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Ectopic kidney, Patent d...	OMIM:164210
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal ala...	OMIM:619005
Desbuquois Dysplasia 1	Microretrognathia, Depressed nasal bridge, Concave nasal ridge, Narrow mouth, Malar flattening, S...	OMIM:251450
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Malar flattening, Short nose	OMIM:222448
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Prominent nose, Abnormality of the dent...	ORPHA:363528
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Hiatus hernia, Cleft ...	OMIM:304050
3Mc Syndrome 2	Prominence of the premaxilla, Limited elbow movement, Craniosynostosis, Highly arched eyebrow, Cl...	OMIM:265050
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat...	ORPHA:1335
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Vasculitis, Sterile pyur...	ORPHA:2331
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Carotid artery dissection, Progeroid facial appearance, Congenital diaph...	OMIM:208050
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst	OMIM:236500
Severe X-Linked Intellectual Disability, Gustavson Type	Short nose, Recurrent upper respiratory tract infections, Micrognathia	ORPHA:3078
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Short neck, Patent ductus arteriosus, Hydrocephalus, Telangiectasia, A...	OMIM:612582
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis	OMIM:610688
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Brachytelephalangic Chondrodysplasia Punctata	Broad nasal tip, Hypoplasia of the maxilla, Depressed nasal ridge, Nasal congestion, Hypoplasia o...	ORPHA:79345
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Wide mo...	OMIM:618590
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Metaphyseal cho...	ORPHA:811
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicl...	OMIM:617159
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Cutis marmorata, Transient ischemic attack, Abnormal pericardium morphology, Myocarditi...	ORPHA:183
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Aplasia/Hy...	ORPHA:306542
Aicardi-Goutieres Syndrome 1	Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Wi...	OMIM:157800
Al-Raqad Syndrome	Thin upper lip vermilion, Short nose, Narrow mouth	OMIM:616459
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Diaphanospondylodysostosis	Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Cleft palate, Abnormal liver lobulat...	OMIM:608022
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ...	OMIM:611134
3C Syndrome	Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Hydroc...	ORPHA:7
Carpenter Syndrome 1	Depressed nasal bridge, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Ag...	OMIM:201000
Ataxia-Telangiectasia	Lymphopenia, Hypopigmentation of hair, Premature graying of hair, Multiple cafe-au-lait spots, Fa...	ORPHA:100
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Wide nose, Recurrent upper respiratory tract infections, Depressed nas...	ORPHA:2399
Obesity And Hypopigmentation	Red hair, Obesity	OMIM:620195
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Avascu...	OMIM:253200
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Narrow mouth, High palate, Long philtrum, Short nose	OMIM:615539
Thanatophoric Dysplasia	Increased nuchal translucency, Atrial septal defect, Patent ductus arteriosus, Hydrocephalus	ORPHA:2655
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Downt...	OMIM:618430
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti...	ORPHA:666
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Abnormality of neutrophils, White hair, Ocular albinism, Reduced bone mineral den...	ORPHA:2720
Mosaic Trisomy 1	Ventricular septal defect, Renal cyst, Coarctation of aorta, Renal cortical cysts, Pulmonary arte...	ORPHA:1692
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Narrow mouth, Thick lower lip vermilion, Micrognathia	OMIM:613804
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Alopecia, Absent eyebrow, Hyperpigmentation of the skin, Erythrodon...	OMIM:263700
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H...	ORPHA:3008
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad...	OMIM:101800
Corneodermatoosseous Syndrome	Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormality of the hand, Cario...	ORPHA:3194
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine...	ORPHA:3202
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis	OMIM:615895
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pu...	ORPHA:99106
Hamel Cerebro-Palato-Cardiac Syndrome	Atrial septal defect, Death in infancy	ORPHA:93946
Loeys-Dietz Syndrome 4	Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular...	OMIM:614816
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely s...	ORPHA:411511
Aceruloplasminemia	Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration	ORPHA:48818
Goldberg-Shprintzen Syndrome	Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Wide nasal bridge, Oligodontia, ...	OMIM:609460
Megalencephaly	Atrial septal defect, Short neck	ORPHA:2477
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Mandibular prognathia, Hypopigmentation of hair, Protruding ton...	ORPHA:98794
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Wide nasal bridge, Hypopigmente...	ORPHA:3440
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Wide nasal bridge, Short columella, Hypoplasia of the z...	OMIM:613603
Fibrochondrogenesis 1	Depressed nasal bridge, Anteverted nares, Wide anterior fontanel, Cleft palate, Narrow mouth, Mal...	OMIM:228520
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short nose, Micrognathia	OMIM:615851
Pulmonary Capillary Hemangiomatosis	Hypoxemia, Abnormal pulmonary vein morphology, Cyanosis, Pericardial effusion	ORPHA:199241
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microgn...	OMIM:154400
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra...	ORPHA:435638
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernu...	OMIM:271520
Trisomy 1Q	Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus arteriosus, Congenital meg...	ORPHA:261344
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Absent cupid's bow, Bulbous nose, Short nose	ORPHA:284169
Frontorhiny	Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Midline nasal groove, Bifid...	ORPHA:391474
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Thrombocytopenia, Splenomega...	OMIM:214500
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Micrognathia, Asplenia, ...	ORPHA:564
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid...	OMIM:146510
Robinow Syndrome, Autosomal Dominant 3	Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft lip, Dental malocclusion, Wide nasa...	OMIM:616894
Ehlers-Danlos Syndrome, Classic Type, 1	Poor wound healing, Mitral valve prolapse, Aortic root aneurysm, Umbilical hernia, Bruising susce...	OMIM:130000
7Q31 Microdeletion Syndrome	Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Wide mouth, Long philtrum	ORPHA:251061
Menkes Disease	Bowing of the long bones, Osteomyelitis, Hypopigmentation of hair, Tarsal synostosis, Recurrent f...	ORPHA:565
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Macroglossia, High palate, Na...	ORPHA:357001
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Micro Syndrome	Anteverted nares, Micrognathia, Wide nasal bridge, High palate, Short philtrum, Short nose	ORPHA:2510
Formiminoglutamic Aciduria	Atrial septal defect	ORPHA:51208
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Aortic root aneurysm	ORPHA:404443
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, Fragile nails, High palate, Sparse hair, Micro...	OMIM:278250
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:618961
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Conotruncal defect, Coarctation of aorta, Abnormal card...	ORPHA:96147
Peho Syndrome	Anteverted nares, Open mouth, Gingival overgrowth, Abnormal upper lip morphology, Malar flattenin...	ORPHA:2836
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hepatomegaly, Median cleft lip, Hamartoma of tongue, Splenomegaly, Lobulated tongue,...	OMIM:269860
Developmental And Epileptic Encephalopathy 90	Atrial septal defect, Limb hypertonia	OMIM:301058
Cerebrofacioarticular Syndrome	Irregular dentition, Micrognathia, Bilateral choanal atresia/stenosis, Hypoplasia of the maxilla,...	ORPHA:314679
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi...	OMIM:263750
Cerebrooculonasal Syndrome	U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Narrow palate,...	OMIM:605627
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choan...	OMIM:166250
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the ra...	ORPHA:2307
Down Syndrome	Depressed nasal bridge, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilio...	ORPHA:870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Skeletal muscle atrophy, Hydrocephalus, Dilated cardiomyopathy, Flexion contractur...	OMIM:253800
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Tented upper lip vermilion, Abnormal hemoglobin, Joint stiffness, Abnormality of the dentition, F...	ORPHA:847
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr...	ORPHA:280200
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, High palate, Long philt...	OMIM:300749
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen conten...	OMIM:261740
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Patent ductus arteriosus, Redundant neck skin, Ventricular septal defect	ORPHA:2519
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Flat nasal alae, Bilatera...	OMIM:610828
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis	OMIM:618223
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H...	OMIM:264480
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Small hand, Osteoporosis, Obesity...	ORPHA:398079
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Diamond-Blackfan Anemia 7	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Horseshoe kid...	OMIM:612562
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair...	ORPHA:79477
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Short neck, Patent ductus arteriosus, Low pos...	OMIM:244300
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Vesicoureteral reflux, Horse...	OMIM:115470
Acute Interstitial Pneumonia	Hypoxemia, Pericardial effusion, Cyanosis	ORPHA:79126
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Rhombencephalosynapsis	Microretrognathia, Short nose, Anteverted nares, Narrow mouth	ORPHA:59315
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Abnormal heart morphology	ORPHA:1867
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, White hair, Reduced bone mineral density, Fine hair, Long fibula, Abnormal metap...	ORPHA:935
Bardet-Biedl Syndrome 1	Dental crowding, High, narrow palate, Biliary tract abnormality, High palate, Hepatic fibrosis, H...	OMIM:209900
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve	OMIM:617744
Branchioskeletogenital Syndrome	Mandibular prognathia, Depressed nasal bridge, Unilateral cleft palate, Broad nasal tip, Hypoplas...	ORPHA:1299
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Pulmonary artery ...	ORPHA:991
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Subcutaneous lipoma, Hydrocephalus, Subvalvular aortic stenosis, Atria...	OMIM:613001
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Single transverse palmar crease, Splenomegaly, Osteopetrosis, Cafe-au-l...	OMIM:618541
Desmosterolosis	Depressed nasal bridge, Micrognathia, Abnormality of the nose, Splenomegaly, Submucous cleft hard...	ORPHA:35107
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Thin upper lip vermilion, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis,...	OMIM:616263
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabial fold, High palate, Long ph...	ORPHA:357074
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Micrognathia, Sy...	OMIM:619841
Joubert Syndrome 14	Intracranial hemorrhage, Ventricular septal defect, Renal cyst	OMIM:614424
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Atrial sept...	OMIM:614576
Carnitine-Acylcarnitine Translocase Deficiency	Rhabdomyolysis, Cardiomyopathy, Cyanosis	ORPHA:159
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Micrognathia, Abnormal ...	ORPHA:818
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee...	ORPHA:98795
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Tented upper lip vermilion, Dental crowding, Micrognathia, Wide nasal bridge, Trian...	OMIM:620369
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia	OMIM:613404
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a...	OMIM:620025
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth	OMIM:615108
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia	OMIM:300908
Shprintzen-Goldberg Craniosynostosis Syndrome	Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Wide anterior fontanel, Dental maloccl...	OMIM:182212
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Spina bifida occulta, Abn...	OMIM:218600
Degcags Syndrome	Osteopenia, Micrognathia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Leu...	OMIM:619488
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Ventricular septal defect, Jaundice, Atrial septal defect, Arthrogryposis multi...	OMIM:208085
Ayme-Gripp Syndrome	Mandibular prognathia, Broad eyebrow, Sparse scalp hair, Smooth philtrum, Thin upper lip vermilio...	OMIM:601088
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Micrognathia, Abnormality of the dentition, Eruption failure, High palate, Long ...	ORPHA:476126
Acquired Purpura Fulminans	Intracranial hemorrhage, Acrocyanosis, Macular purpura	ORPHA:49566
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria	ORPHA:445038
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma	ORPHA:1001
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi...	OMIM:182250
Thakker-Donnai Syndrome	Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1780
Macrocephaly/Autism Syndrome	Hepatomegaly, Depressed nasal bridge, Splenomegaly, High palate, Long philtrum, Short nose	OMIM:605309
Warburg Micro Syndrome 3	Downturned corners of mouth, Short nose, Narrow palate, Micrognathia	OMIM:614222
Tangier Disease	Accelerated atherosclerosis, Carotid artery stenosis, Facial diplegia, Left ventricular hypertrop...	ORPHA:31150
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Deep philtrum, Short nose	OMIM:613320
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short nose, Retrognathia, High palate, Wide nasal bridge	OMIM:618005
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration	OMIM:614887
White Forelock With Malformations	Atrial septal defect, Spina bifida occulta	ORPHA:2475
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, High palate, Short nose	OMIM:617822
Cardiac-Valvular Ehlers-Danlos Syndrome	Atrial septal defect, Abnormal heart valve morphology, Poor wound healing, Mitral valve prolapse,...	ORPHA:230851
Chand Syndrome	Curly hair, Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral fren...	ORPHA:1401
Loeys-Dietz Syndrome 1	Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur...	OMIM:609192
Beta-Mercaptolactate Cysteine Disulfiduria	Atrial septal defect, Umbilical hernia	ORPHA:1035
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Saethre-Chotzen Syndrome	Depressed nasal bridge, Prominent nasal bridge, Hypoplasia of the maxilla, Open bite, Narrow pala...	ORPHA:794
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Stevenson-Carey Syndrome	Atrial septal defect, Joint contracture of the hand, Left superior vena cava draining to coronary...	OMIM:611961
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys...	OMIM:618460
Dravet Syndrome	Limited neck range of motion, Cyanotic episode	ORPHA:33069
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Dermotrichic Syndrome	Short nose, Depressed nasal bridge	ORPHA:99688
Temple-Baraitser Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:611816
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Coarctation of...	OMIM:618454
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect, Frontal encephalocele	ORPHA:521308
Abdominal Obesity-Metabolic Syndrome 3	Coronary artery stenosis, Stroke	OMIM:615812
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, O...	ORPHA:534
Trisomy 20P	Anteverted nares, Micrognathia, Abnormality of the dentition, Downturned corners of mouth, Abnorm...	ORPHA:261318
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Cleft palate, High palate, Malar flattening, Short nose	ORPHA:93259
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Rh Deficiency Syndrome	Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Kyphosis, Flexion contracture, Sm...	ORPHA:398069
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ...	OMIM:617107
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon...	OMIM:613805
High Altitude Pulmonary Edema	Hypoxemia, Cyanosis	ORPHA:330012
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Pulmonary artery stenosis, Patent ductus arte...	ORPHA:96167
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth	OMIM:615109
Ermine Phenotype	Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Clinodacty...	ORPHA:999
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormality of the dentition, Micrognathia, Narrow mouth, Short nose, Convex nasal ridge	ORPHA:90154
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Short nose, Thin vermilion border, Short philtrum	ORPHA:2983
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Orofacial cleft, Coarse hair, Hypop...	ORPHA:1896
Eisenmenger Syndrome	Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Hypoxemia, ...	ORPHA:97214
Lathosterolosis	Elevated hepatic transaminase, Anteverted nares, Bilobate gallbladder, Micrognathia, Intrahepatic...	OMIM:607330
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Mednik Syndrome	Cirrhosis, Hepatic fibrosis, Cholestasis	OMIM:609313
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Failure to thrive	ORPHA:70472
Waardenburg Syndrome, Type 1	Mandibular prognathia, Smooth philtrum, White eyelashes, Partial albinism, White eyebrow, Synophr...	OMIM:193500
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio...	OMIM:208500
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Open bite, Splenomegaly, Bulbous nose, Su...	OMIM:115150
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Mosaic Trisomy 9	Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Pa...	ORPHA:99776
Boudin-Mortier Syndrome	Aortic root aneurysm, Mitral valve prolapse	OMIM:619543
Glycogen Storage Disease Xii	Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia	OMIM:611881
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Thanatophoric Dysplasia Type 1	Increased nuchal translucency, Patent ductus arteriosus, Hydrocephalus, Excessive wrinkled skin, ...	ORPHA:1860
Fucosidosis	Decreased muscle mass, Acrocyanosis, Vascular skin abnormality, Cardiomegaly	ORPHA:349
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta...	OMIM:615560
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Premature graying of hair, Intracranial hemo...	ORPHA:363618
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia	OMIM:224120
3-Methylglutaconic Aciduria, Type V	Atrial septal defect, Noncompaction cardiomyopathy, Diaphragmatic eventration, Dilated cardiomyop...	OMIM:610198
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Decreased muscle mass, Facial hypotonia	ORPHA:500533
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Smooth ph...	OMIM:616430
Ruvalcaba Syndrome	Dental crowding, Thin vermilion border, Narrow mouth, Short nose, Convex nasal ridge	ORPHA:3121
Fetal Hydantoin Syndrome	Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Short nose	ORPHA:1912
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mu...	ORPHA:98914
Congenital Myasthenic Syndrome	Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mu...	ORPHA:590
Tarp Syndrome	Atrial septal defect, Cyanosis, Persistent left superior vena cava, Tetralogy of Fallot	ORPHA:2886
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Short nose, Bilatera...	OMIM:619859
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, Dysplastic tricuspid valve, Hydrocephalus, Low posterior hairline, Righ...	OMIM:612863
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malforma...	ORPHA:1556
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Seckel Syndrome 9	Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Congenital diaphrag...	OMIM:616777
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Tented upper lip vermilion, Depressed nasal bridge, Thick vermilion border, Malar flattening, Sho...	OMIM:616723
Adams-Oliver Syndrome	Congenital hepatic fibrosis, Cirrhosis, Portal hypertension	ORPHA:974
Au-Kline Syndrome	Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Dental malo...	OMIM:616580
Distal Deletion 10Q	Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Prominent nose, Wide nasal bridge...	ORPHA:96148
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, High palate...	OMIM:615803
Infant Acute Respiratory Distress Syndrome	Hypoxemia, Cyanosis	ORPHA:70587
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Mi...	ORPHA:1507
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Hypospadias, Patent ductus arteriosus, Hypoplastic aorti...	OMIM:300166
Esophageal Atresia	Cyanosis, Ventricular septal defect, Tetralogy of Fallot, Coarctation of aorta	ORPHA:1199
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Spinocerebellar Ataxia-Dysmorphism Syndrome	Downturned corners of mouth, Short nose, Anteverted nares, Thick vermilion border	ORPHA:1185
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Short nose, Hypodontia	ORPHA:544503
Frontoocular Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:605321
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Micrognathia, Wide nasal b...	OMIM:247200
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Alveolar ridge overgrowth, Cleft palate...	OMIM:602398
Lymphatic Malformation 13	Neonatal death, Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620244
Geroderma Osteodysplasticum	Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Periodontitis	OMIM:231070
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Decreased muscle mass, Scapular winging, Ventricular septal ...	OMIM:615582
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosy...	OMIM:619451
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Cystic hygroma, Pulmo...	OMIM:609942
Mosaic Trisomy 16	Ventricular septal defect, Large placenta, Patent ductus arteriosus, Coarctation of aorta, Abnorm...	ORPHA:1708
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Persi...	OMIM:619268
Graft Versus Host Disease	Hyperbilirubinemia	ORPHA:39812
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Carious teeth, ...	OMIM:244450
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Thin verm...	OMIM:616007
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ...	OMIM:136140
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa...	ORPHA:275761
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Situs inversus totalis	OMIM:619881
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Webbed neck	OMIM:618950
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia...	ORPHA:14
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Anteverted nares, Abnormality of the dentition, Downturned corners of mouth, Malar flattening, Sh...	OMIM:612394
Autosomal Dominant Robinow Syndrome	Wide nose, Median cleft lip and palate, Depressed nasal bridge, Anteverted nares, Micrognathia, O...	ORPHA:3107
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Anteverted nares, Hepatic fibrosis, Open mouth	OMIM:615273
Blomstrand Lethal Chondrodysplasia	Natal tooth, Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Long phil...	ORPHA:50945
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,...	OMIM:619179
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum	OMIM:103050
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Hypomimic face	OMIM:608572
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Triangular mouth, Cleft palate...	OMIM:257300
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow...	OMIM:602782
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Bu...	OMIM:271510
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Hypoplastic left heart	OMIM:618829
Stickler Syndrome	Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Micrognathia, Hypopl...	ORPHA:828
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis	ORPHA:1302
Eosinophilic Fasciitis	Muscular edema, Myositis, Acrocyanosis	ORPHA:3165
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Thin vermilion border, High...	OMIM:614080
Meester-Loeys Syndrome	Poor wound healing, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm...	OMIM:300989
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Osteoporosis, Obesit...	ORPHA:98754
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Abnormality of the dentition, Small hand, Osteoporosis, Inc...	ORPHA:739
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Joint contracture of the 5th finger	OMIM:614407
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Cleft lip, Abnormal mesentery morphology, Cleft pala...	ORPHA:2953
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Small for gestational age, Small ...	ORPHA:177901
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Br...	ORPHA:1465
Alagille Syndrome 1	Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve...	OMIM:118450
Atrial Septal Defect 9	Secundum atrial septal defect, Bicuspid aortic valve	OMIM:614475
Meier-Gorlin Syndrome 6	Microretrognathia, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Depressed...	OMIM:616835
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard...	ORPHA:2588
Coffin-Siris Syndrome 6	Atrial septal defect, Diaphragmatic eventration	OMIM:617808
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Cystic Echinococcosis	Hyperbilirubinemia	ORPHA:400
Lead Poisoning	Delayed eruption of teeth, Small for gestational age, Delayed skeletal maturation, Cranial hypero...	ORPHA:330015
Baller-Gerold Syndrome	Narrow nasal bridge, Prominent nasal bridge, Micrognathia, Cleft palate, High palate, Narrow mout...	ORPHA:1225
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Short nose, Depressed nasal bridge	OMIM:614732
Tuberous Sclerosis 1	Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lymphangio...	OMIM:191100
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect, Bruising susceptibility, Poor wound healing	OMIM:619115
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Patent ductus arteriosus, Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephrocalcinosis...	ORPHA:369837
Trisomy 10P	Absent gallbladder, Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormality of the no...	ORPHA:171929
Unilateral Polymicrogyria	Cyanosis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology	ORPHA:268943
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Schneckenbecken Dysplasia	Malar flattening, Short nose, Cleft palate	OMIM:269250
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Osteoporosis, Obesit...	ORPHA:98793
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, High,...	ORPHA:3472
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Patent foramen ovale	ORPHA:89844
Abruzzo-Erickson Syndrome	Atrial septal defect	ORPHA:921
Hereditary Spherocytosis	Hyperbilirubinemia	ORPHA:822
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Osteoporosis, Obesit...	ORPHA:177904
Histiocytoid Cardiomyopathy	Cyanosis, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Stroke-like episode	ORPHA:137675
1P21.3 Microdeletion Syndrome	Wide mouth, Short nose, Micrognathia, Broad nasal tip	ORPHA:293948
Distal Deletion 9P	Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose	ORPHA:1642
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Micrognathia, Abnormality of the dentition, High, narrow palate, B...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Micrognathia, Abnormality of the dentition, High, narrow palate, B...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Micrognathia, Abnormality of the dentition, High, narrow palate, B...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Micrognathia, Abnormality of the dentition, High, narrow palate, B...	ORPHA:881
Argininosuccinic Aciduria	Hepatomegaly, Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration	OMIM:207900
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Nephronophthisis 11	Hepatic fibrosis	OMIM:613550
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop...	OMIM:277900
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Seizures-Scoliosis-Macrocephaly Syndrome	Atrial septal defect	ORPHA:466926
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Short neck, Patent ductus arteriosus, ...	OMIM:601808
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Wide nasal bridge, Oligodontia, Short philtr...	OMIM:180500
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth	OMIM:158350
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Hydrocephalus, Patent ductus arteriosus, Knee flexion contracture, Atrial sept...	OMIM:618162
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect, Facial hypotonia	OMIM:611087
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Micrognathia, Wide nasal bridge, Macroglossia, High palate, Narrow mouth,...	OMIM:613457
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch, Unilateral renal agenesis	ORPHA:457284
Weiss-Kruszka Syndrome	Broad philtrum, Short nose, Anteverted nares, Exaggerated cupid's bow	OMIM:618619
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Flexion contracture, Ventricular septal defect, Short neck	OMIM:617452
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Micrognathia, Bulbous nose, Narrow mouth, Short nose	OMIM:614114
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Patent ductus arteriosus	OMIM:602482
Autoimmune Hepatitis	Increased total bilirubin	ORPHA:2137
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Micrognathia, Wide nasal bridge, Submucous cleft soft palate...	ORPHA:2282
Ablepharon Macrostomia Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hypoplasia of the maxilla, W...	ORPHA:920
Potocki-Lupski Syndrome	Atrial septal defect, Patent foramen ovale	OMIM:610883
Orofaciodigital Syndrome Type 4	Wide nose, Median cleft lip, Choanal atresia, Abnormal oral mucosa morphology, Micrognathia, High...	ORPHA:2753
Kleefstra Syndrome 1	Micropenis, Abnormal renal morphology, Hypospadias, Conotruncal defect	OMIM:610253
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Abnormal lymphatic vessel morphology...	ORPHA:464329
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Depressed nasal bridge, Anteverted nares, Micrognathia, Long nose, Bulbous nose, Gi...	ORPHA:508533
Meier-Gorlin Syndrome 3	Microretrognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Thick vermili...	OMIM:613803
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Houge-Janssens Syndrome 3	Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect	OMIM:618354
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Anteverted nares, Dental crowding, Broad nasal tip, Hypoplasia of the maxi...	OMIM:617402
Restrictive Dermopathy 2	Cyanosis	OMIM:619793
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef...	ORPHA:261236
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena...	ORPHA:464311
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca...	OMIM:613254
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Scapular winging, Progeroid facial appearance, Hydrocephalus...	OMIM:616914
Fg Syndrome Type 1	Progressive flexion contractures, Facial wrinkling, Hydrocephalus, Coarctation of aorta, Mitral v...	ORPHA:93932
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Prematurely aged appearance, Myocarditis, Pulmonary artery stenosis, ...	ORPHA:3342
Mucopolysaccharidosis-Plus Syndrome	Short neck, Patent ductus arteriosus, Flexion contracture, Low posterior hairline, Macroglossia, ...	OMIM:617303
Noonan Syndrome 4	Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hype...	OMIM:610733
Sotos Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Muscular ventricular s...	OMIM:117550
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Persistence o...	ORPHA:93325
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Narrow mouth, Malar flattening, S...	OMIM:601353
Alagille Syndrome	Ventricular septal defect, Telangiectasia of the skin, Atrial septal defect, Spina bifida occulta...	ORPHA:52
Atrial Septal Defect, Ostium Secundum Type	Cyanosis, Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve ...	ORPHA:99103
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Tooth malposition, Depressed nasal bridge, Narrow palate	OMIM:277600
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Short nose, Anteverted nares, Narrow mouth	OMIM:613735
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Wide anterior fontanel, Submucous cleft hard palate, High palate, Long ...	ORPHA:457279
Surfactant Metabolism Dysfunction, Pulmonary, 3	Neonatal death, Death in infancy, Cyanosis, Hypoxemia	OMIM:610921
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Sparse ...	ORPHA:2834
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Low anter...	OMIM:614976
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Pulmonic stenosis	OMIM:619239
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Unilateral renal agenesis, Ascending aorta hypoplasia,...	OMIM:619503
Pulmonary Alveolar Microlithiasis	Mitral valve calcification, Cyanosis, Calcification of the aorta, Hypoxemia, Oxygen desaturation ...	ORPHA:60025
Noonan Syndrome 5	Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:611553
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft, High pala...	ORPHA:65286
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Hypospadias	ORPHA:2075
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Micrognathia, High palate, Long philtrum, Short nose, Smooth philtrum	OMIM:617527
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Umbilical hernia, Ventricular septal defect	OMIM:615879
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp...	ORPHA:261197
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Plaa-Associated Neurodevelopmental Disorder	Tented upper lip vermilion, Micrognathia, High palate, Long philtrum, Short nose, Smooth philtrum	ORPHA:521426
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ...	ORPHA:2908
Marshall-Smith Syndrome	Microretrognathia, Eclabion, Prominence of the premaxilla, Irregular dentition, Depressed nasal b...	OMIM:602535
Johanson-Blizzard Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:243800
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:250410
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Limb joint contracture, Ventricular septal defect, Short neck	ORPHA:505237
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Ventricula...	ORPHA:2461
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Dental crowd...	OMIM:614188
Zttk Syndrome	Absent gallbladder, Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxil...	OMIM:617140
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Atrial septal defect, Macroglossia, Patent ductus arteriosus, Camptodactyly	ORPHA:397709
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral st...	OMIM:617660
Coffin-Lowry Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Thick lower lip vermilion, Dental malocclusio...	OMIM:303600
Opsismodysplasia	Splenomegaly, Hepatomegaly, Short nose, Depressed nasal bridge	ORPHA:2746
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Ventricular septal defect, Webbed neck, Atrial septal defect...	OMIM:270450
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Death in infancy, Cyanosis, Ragged-red muscle fibers, Concentric hypertr...	OMIM:252010
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medial calcification of large arteries, Cyanosis, Transient ischemic att...	ORPHA:51608
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria...	ORPHA:2637
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Long penis, Horseshoe kidney, P...	OMIM:268300
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Vici Syndrome	Hypopigmentation of hair, Failure to thrive, Median cleft lip, Everted upper lip vermilion, Albin...	OMIM:242840
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Ventricular hypertrophy, Prominent superficial blood vessels, Cyanosis...	ORPHA:740
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft palate, Wide mouth, Short nose	OMIM:614207
Noonan Syndrome 7	Short neck, Low posterior hairline, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertr...	OMIM:613706
Toriello-Carey Syndrome	Micrognathia, Wide anterior fontanel, Cleft palate, High palate, Short nose, Abnormal palate morp...	ORPHA:3338
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft palate, Short nose	OMIM:614749
Chromosome 10Q26 Deletion Syndrome	Scapular winging, Short neck, Patent ductus arteriosus, Low posterior hairline, Webbed neck, Atri...	OMIM:609625
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena...	ORPHA:49
Shprintzen-Goldberg Syndrome	Anteverted nares, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Retrognathia	ORPHA:2462
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Ocular albinism, M...	ORPHA:79430
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U...	OMIM:619426
Greenberg Dysplasia	Hepatomegaly, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ri...	OMIM:215140
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Limb hypertonia	OMIM:619580
17Q23.1Q23.2 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Congenital contracture	ORPHA:261279
Distal Deletion 19P	Hypoplasia of the maxilla, Short philtrum, Cleft palate	ORPHA:96129
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Flexion contracture, Low posterior hairl...	OMIM:619720
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Abnormality of the denti...	ORPHA:261112
Dyrk1A-Related Intellectual Disability Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena...	ORPHA:464306
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, Jaundice, Dilat...	ORPHA:26793
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Deeah Syndrome	Hepatomegaly, Narrow palate, Long philtrum, High palate, Short philtrum, Narrow mouth, Prominent ...	OMIM:619004
Opitz Gbbb Syndrome	Natal tooth, Ventricular septal defect, Congenital diaphragmatic hernia, Patent foramen ovale, Pa...	ORPHA:2745
Zechi-Ceide Syndrome	Atrial septal defect, Abnormal heart morphology	ORPHA:217017
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ...	ORPHA:2554
Tarp Syndrome	Neonatal death, Atrial septal defect, Tetralogy of Fallot, Subdural hemorrhage	OMIM:311900
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri...	OMIM:612098
Trichothiodystrophy 1, Photosensitive	Short nose, Retrognathia, Triangular mouth	OMIM:601675
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo...	ORPHA:167
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Arnold-Chiari Malformation Type I	Stiff neck, Areflexia of upper limbs, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebr...	ORPHA:268882
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel hypoplasia	OMIM:211900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Depressed nasal ridge	OMIM:300863
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, Dental crowding, Cl...	OMIM:301044
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Cutis marmorata, Ventricular septal defect, Pulmonary arter...	OMIM:100300
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Microdontia, Cleft ...	OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Choanal atresia, Selective tooth agenes...	OMIM:129900
Alazami Syndrome	Atrial septal defect, Cutis marmorata	ORPHA:319671
X Small Rings	Bicuspid aortic valve, Ventricular septal defect, Short neck, Low posterior hairline, Aortic root...	ORPHA:96201
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cutis marmorata, Cardiomegaly, Moyamoya phenomenon, Calcif...	ORPHA:51
Lymphatic Malformation 7	Pericardial effusion, Varicose veins, Increased nuchal translucency, Atrial septal defect	OMIM:617300
Microphthalmia, Syndromic 3	Vertebral fusion, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia	OMIM:206900
17Q12 Microduplication Syndrome	Atrial septal defect	ORPHA:261272
Dend Syndrome	Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum	ORPHA:79134
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Short neck, Micrognathia, Narrow mouth, Humeroradial synostosis,...	ORPHA:3404
Ring Chromosome 7 Syndrome	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Cleft palate,...	ORPHA:1449
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Ventricular septal defect, Low posterior hairline, Camptodactyly, Atrial sep...	OMIM:617360
Vater/Vacterl Association	Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Patent d...	OMIM:192350
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Anteverted nares, Dep...	OMIM:618332
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Micrognathia, Narrow palate, Long philtrum, Short nose	ORPHA:109
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Hepatomegaly, Wide nose, Tented upper lip vermilion, Depressed nasal bridg...	ORPHA:96334
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Noonan Syndrome 13	Short neck, Low posterior hairline, Mitral valve prolapse, Webbed neck, Atrial septal defect, Bru...	OMIM:619087
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Cutis marmorata, Ventricular septal defect, Short neck, Patent ductus arte...	OMIM:610759
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Narrow mouth, Orofacial cleft, Lon...	ORPHA:77301
Zellweger Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Hypospadias	ORPHA:912
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Hypoxemia, Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion	OMIM:610978
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve	OMIM:619721
Helsmoortel-Van Der Aa Syndrome	Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Carious teeth, High, narrow palate, ...	OMIM:615873
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Atri...	OMIM:309801
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Increased size ...	ORPHA:457395
Kabuki Syndrome 2	Natal tooth, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Atrioventricular cana...	OMIM:300867
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Patent ductus arteriosus, Renal hypoplasia, Renal cyst	OMIM:616300
Carney Complex, Type 1	Palatine myxoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Coarctation of aorta, Abnormal aortic morphology, Subvalvular aorti...	ORPHA:1052
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Wide nasal bridge, Th...	OMIM:617157
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Atrial septal defect, Contracture of the proximal interphalangeal ...	OMIM:618109
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, High, narrow palate, Long philtrum	ORPHA:1101
Contractures-Developmental Delay-Pierre Robin Syndrome	Atrial septal defect, Wrist flexion contracture, Peripheral pulmonary artery stenosis	ORPHA:436003
Wiedemann-Steiner Syndrome	Atrial septal defect, Contracture of the distal interphalangeal joint of the fingers, Patent duct...	OMIM:605130
Trisomy 8P	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Annular p...	ORPHA:264450
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri...	ORPHA:500095
Jaberi-Elahi Syndrome	Short nose, Depressed nasal bridge, Triangular mouth	OMIM:617988
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Sepsis In Premature Infants	Jaundice, Cyanosis, Petechiae, Purpura	ORPHA:90051
Oculoectodermal Syndrome	Transient ischemic attack, Short neck, Patent ductus arteriosus, Coarctation of aorta, Atrial sep...	OMIM:600268
Jacobsen Syndrome	U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Annular pan...	OMIM:147791
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac...	ORPHA:70
19P13.12 Microdeletion Syndrome	Atrial septal defect, Arthrogryposis multiplex congenita, Ventricular septal defect, Short neck	ORPHA:254346
Pfeiffer Syndrome Type 1	High palate, Short nose, Depressed nasal bridge	ORPHA:93258
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha...	OMIM:300998
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Cerebrofaciothoracic Dysplasia	Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum	ORPHA:1394
Phace Syndrome	Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root...	ORPHA:42775
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus...	OMIM:257920
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Elevated hepatic transaminase, Short nose, Epistaxis	OMIM:277450
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, He...	ORPHA:2072
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Short neck, Patent ductus arteriosus, Atrial s...	OMIM:616364
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Atrial septal defect, Aortic valve stenosis, Hydrocephalus, Camptodactyly	ORPHA:459061
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Micrognathia, Broad nasal tip, Wide anterior fontanel, Abnormality of ...	ORPHA:798
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Facial hypotonia	OMIM:614526
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A...	ORPHA:158668
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Patent ductus ...	ORPHA:2092
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia	ORPHA:464321
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Patent foramen ovale	OMIM:620075
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Broad nasal tip, Narrow mouth, Bu...	OMIM:309590
Buratti-Harel Syndrome	Atrial septal defect, Dilation of Virchow-Robin spaces	OMIM:619314
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Downturned corners of mouth, Wide mouth, Short nose, Retrognathia, Bifid ...	OMIM:301030
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Mitral valve prolapse, Aortic root aneurysm, Umb...	ORPHA:287
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata, Peripheral arterial stenosis	OMIM:259900
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short lingual f...	OMIM:601358
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c...	ORPHA:892
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thin l...	ORPHA:280633
Specc1L-Related Hypertelorism Syndrome	Prominent nasal bridge, Wide nasal bridge, Orofacial cleft, Thin vermilion border, Everted lower ...	ORPHA:1519
Coffin-Siris Syndrome 4	Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macrog...	OMIM:614609
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Atrial septal defect, Patent ductus arteriosus, Dextrocardia	OMIM:277380
Cerebrocostomandibular Syndrome	Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Renal cyst, Horseshoe kidney...	OMIM:117650
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ...	ORPHA:99867
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose	ORPHA:2557
Neu-Laxova Syndrome 1	Hydranencephaly, Ventricular septal defect, Spina bifida, Short neck, Patent foramen ovale, Paten...	OMIM:256520
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Atrial septal defect, Aortic root aneurysm, Flexion contracture, Generalized limb muscle atrophy	OMIM:618891
Genitopatellar Syndrome	Atrial septal defect, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Fontaine Progeroid Syndrome	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Protruding...	OMIM:612289
Trisomy 18	Microretrognathia, Choanal atresia, Non-midline cleft lip, Cleft palate, Narrow palate, Narrow mo...	ORPHA:3380
Pearson Marrow-Pancreas Syndrome	Hyperbilirubinemia	OMIM:557000
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow palate, High palate, Tooth malposition	OMIM:608328
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Depressed nasal bridge, Micrognathia, Cleft upper lip, Congenital hepatic fibrosis, Lo...	ORPHA:93271
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atrial septal defect, Pulmonic stenosis	OMIM:618282
Neonatal Marfan Syndrome	Abnormal cardiac ventricle morphology, Flexion contracture, Mitral valve prolapse, Hypoxemia, Asc...	ORPHA:284979
Geleophysic Dysplasia 2	Hepatomegaly, Thin upper lip vermilion, Long philtrum, Short nose, Smooth philtrum	OMIM:614185
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Cleft palate, High palate, Short nose	ORPHA:93260
Cornelia De Lange Syndrome 1	Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, V...	OMIM:122470
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Vesicoureteral refl...	OMIM:616975
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Depressed nasal ridge, Concave nasa...	OMIM:271665
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Cleft palate, Thick vermilion border, High palate, Narro...	OMIM:224690
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo...	OMIM:124000
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
7Q11.23 Microduplication Syndrome	Cutis marmorata, Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Patent d...	ORPHA:96121
Microlissencephaly-Micromelia Syndrome	Short nose, Long philtrum	ORPHA:50810
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Chylopericardium, Hematuria, Multiple renal cysts, Renal ...	ORPHA:538
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Dilatation of the ventricular cavity, Coronary artery stenos...	ORPHA:66529
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Classical-Like Ehlers-Danlos Syndrome Type 2	Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V...	ORPHA:536532
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Aortic root aneurysm, Mitral valve prolapse	ORPHA:449291
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Ventricular septal defect, Hypo...	OMIM:270400
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia	ORPHA:168577
Alveolar Echinococcosis	Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, Abnormal bladder morphology, Hepat...	ORPHA:284
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocarditis, Vasculitis, Erythema, Acrocyanosis, Inflam...	ORPHA:221
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia	OMIM:619475
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormal...	ORPHA:1606
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Cutis marmorata, Cardiomyopathy, Ischemic stroke, Vasculit...	ORPHA:48435
Reynolds Syndrome	Calcinosis, Hyperbilirubinemia	OMIM:613471
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Patent ductus arteriosus, Flexion contracture, Hydrocephalus, Abnormal heart morpholo...	ORPHA:505248
Omodysplasia 1	Depressed nasal bridge, Micrognathia, Wide nasal bridge, Long philtrum, Malar flattening, Short nose	OMIM:258315
Chime Syndrome	Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallot, Transposition of the g...	ORPHA:3474
8P11.2 Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse	ORPHA:251066
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Wide nasal bridge, Hypopigme...	ORPHA:163746
Cranioectodermal Dysplasia 2	Hyperbilirubinemia	OMIM:613610
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Choanal Atresia	Cyanosis	ORPHA:137914
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Short nose	OMIM:200600
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Splenopancreatic fusio...	OMIM:269150
C Syndrome	Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, Micrognathia, Gingival overgro...	ORPHA:1308
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Ventricular septal defect, Facial palsy, Patent ductus arteriosus, Hydrocephalus, Jo...	OMIM:300373
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Spina bifida occulta, P...	OMIM:300707
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic...	ORPHA:2369
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology	ORPHA:1292
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Hypospadias, Abnormality of the kidney, Pulmon...	OMIM:235730
Geleophysic Dysplasia 1	Hepatomegaly, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum	OMIM:231050
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Wide nose, Aplasia of the nasal bone, Anteverted...	ORPHA:93357
Fanconi Anemia, Complementation Group F	Atrial septal defect, Patent ductus arteriosus	OMIM:603467
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Severe failure to thrive, HbH hemoglobin	ORPHA:423479
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Hypoplastic right heart, Ascending tubular aorta aneurysm, H...	OMIM:617403
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Hydrocephalus, Communicating hydrocephalus, Right atrial enlargement	OMIM:615219
Immunodeficiency 23	Aortic root aneurysm, Erythema, Vasculitis in the skin	OMIM:615816
Jacobsen Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Coarctation of aorta, Hypoplastic left h...	ORPHA:2308
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Short nose, Long philtrum	OMIM:258480
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Poems Syndrome	Pericardial effusion, Acrocyanosis	ORPHA:2905
Noonan Syndrome 1	Ventricular septal defect, Short neck, Patent ductus arteriosus, Low posterior hairline, Coarctat...	OMIM:163950
Ethylene Glycol Poisoning	Cyanosis, Facial palsy	ORPHA:31826
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Flexion contract...	OMIM:194050
Restrictive Dermopathy 1	Natal tooth, Prominent superficial blood vessels, Atrial septal defect, Limb joint contracture, P...	OMIM:275210
Neurocardiofaciodigital Syndrome	Atrial septal defect, Double inlet left ventricle, Patent ductus arteriosus, Tetralogy of Fallot	OMIM:619869
Myasthenic Syndrome, Congenital, 21, Presynaptic	Weakness of facial musculature, Cyanosis, Knee flexion contracture	OMIM:617239
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Aortic arch aneurysm, Patent ductus arteriosus, Cardiomyopathy, Aortic...	OMIM:135500
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Small for gestational ag...	OMIM:201750
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Pmm2-Cdg	Mandibular prognathia, Elevated hepatic transaminase, Thin upper lip vermilion, Anteverted nares,...	ORPHA:79318
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor...	ORPHA:857
Witteveen-Kolk Syndrome	Microretrognathia, Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Prominent nasal b...	OMIM:613406
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi...	ORPHA:352665
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Short nose, Decreased liver function	OMIM:614863
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Bulbous nose, High palate, Co...	OMIM:614437
Tetrasomy 9P	Renal dysplasia, Juxtaductal coarctation of the aorta, Pericarditis, Recurrent urinary tract infe...	ORPHA:3310
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Patent ductus arteriosus	OMIM:300968
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis,...	ORPHA:2750
Bdv Syndrome	Atrial septal defect	OMIM:619326
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Wide mouth, High palate, Short nose, Convex nasal ridge	OMIM:300661
Warburg Micro Syndrome 2	Short nose, Prominent nasal bridge	OMIM:614225
Juvenile Polyposis Of Infancy	Atrial septal defect, Patent ductus arteriosus, Subcutaneous lipoma, Abnormal heart morphology	ORPHA:79076
Ramos-Arroyo Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:1051
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Aortic root aneurysm, Joint contracture	OMIM:615349
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary v...	ORPHA:261537
Basel-Vanagaite-Smirin-Yosef Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Atrial septal defect, Ventri...	ORPHA:464738
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Atrial septal defect, Ventricular septal defect, Premature g...	ORPHA:769
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Cyanosis	OMIM:610913
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Webbed neck, Atrial septal defect,...	ORPHA:209905
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Prominent nasal bridge, Cleft soft palate, Broad nasal tip, Underdeveloped nasal alae, Supernumer...	ORPHA:268261
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Myasthenia Gravis	Myositis, Acrocyanosis	ORPHA:589
Tropical Endomyocardial Fibrosis	Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Myocardial calcification...	ORPHA:75565
Cystinosis, Nephropathic	Hypopigmentation of hair, Failure to thrive in infancy, Splenomegaly, Metaphyseal widening, Delay...	OMIM:219800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Unconjugated hyperbilirubinemia	OMIM:618278
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Lethal Kniest-Like Dysplasia	Atrial septal defect, Short neck	ORPHA:2347
Lymphatic Malformation 6	Atrial septal defect, Varicose veins, Intestinal lymphangiectasia, Webbed neck	OMIM:616843
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia	ORPHA:3301
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Bicuspid aortic valve, Pulmonary artery sling, Urinary incontinence...	ORPHA:2152
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Cleft p...	ORPHA:500150
Fryns Syndrome	Ureteral duplication, Hypospadias, Ventricular septal defect, Renal agenesis, Renal cyst, Atrial ...	OMIM:229850
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pel...	ORPHA:261552
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Restrictive Dermopathy	Natal tooth, Atrial septal defect, Multiple joint contractures, Camptodactyly of finger, Dextroca...	ORPHA:1662
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in infancy, Cyanosis, Death in childhood	OMIM:618426
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Atrial septal defect, Patent foramen ovale	OMIM:619184
Aymé-Gripp Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Oligodontia, Narrow mouth, Short ...	ORPHA:1272
Congenital Erythropoietic Porphyria	Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi...	ORPHA:79277
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Flexion contracture, Subdural hemorrhage, Premature graying of hair, Car...	ORPHA:90324
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect, Macroglossia	ORPHA:93947
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Bulbous nose, High, narrow palat...	ORPHA:95699
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Short neck, Patent ductus arteriosus, Flexion contracture, Elb...	OMIM:300868
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Broad nasal tip, Wide nasal bridge, High palate,...	OMIM:620330
Marfan Syndrome	Reduced subcutaneous adipose tissue, Decreased muscle mass, Bicuspid aortic valve, Flexion contra...	OMIM:154700
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	ORPHA:3047
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric...	ORPHA:363958
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Cleft palate, Short columella, High palate, Narrow m...	OMIM:601776
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Hajdu-Cheney Syndrome	Ventricular septal defect, Mitral stenosis, Hypospadias, Patent ductus arteriosus, Multiple renal...	ORPHA:955
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Hepatomegaly, Exaggerated median tongue furrow, Depressed nasal bridge, An...	OMIM:312870
Okamoto Syndrome	Exaggerated median tongue furrow, Tented upper lip vermilion, Depressed nasal bridge, Anteverted ...	ORPHA:2729
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbous nose, Wide nasal bridge, Dow...	OMIM:619522
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia	OMIM:620305
Genitourinary And/Or Brain Malformation Syndrome	Long philtrum, Aplasia of the nasal bone, Short nose, Micrognathia	OMIM:618820
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr...	OMIM:107480
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Wide nasal bridge, High palate, Long philtrum, Short nose	ORPHA:319182
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose, Thick vermilion border, Long philtrum	OMIM:252160
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia	OMIM:620186
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect	ORPHA:1393
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aor...	ORPHA:285
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum	ORPHA:522077
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormality of dental color, Portal hypertension, Sp...	ORPHA:64
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Thick vermilion border, Long philtrum	OMIM:252150
D-Bifunctional Protein Deficiency	Renal cyst	OMIM:261515
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Downturned corners of mouth, Short nose, Hepatic steatosis, Convex nasal ridge...	OMIM:619321
Primary Hyperoxaluria	Cardiomyopathy, Acrocyanosis, Cutis marmorata	ORPHA:416
Costello Syndrome	Redundant neck skin, Ventricular septal defect, Rhabdomyosarcoma, Short neck, Achilles tendon con...	OMIM:218040
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Abnormal heart morphology, Cardiomy...	ORPHA:699
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect	ORPHA:2728
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent...	ORPHA:709
Primrose Syndrome	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Hypoplasia of the maxilla, Thick lower...	OMIM:259050
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve, Abno...	ORPHA:466791
Codas Syndrome	Delayed eruption of teeth, Atrial septal defect, Atrioventricular canal defect, Ventricular septa...	OMIM:600373
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Dental crowding, Down-sloping shoulders, Kyphoscoliosis, Abnorm...	OMIM:309800
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hype...	OMIM:607721
Joubert Syndrome 21	Hyperechogenic kidneys, Renal cyst	OMIM:615636
Pitt-Hopkins Syndrome	Failure of eruption of permanent teeth, Acrocyanosis, Short neck	ORPHA:2896
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Death in childhood, Campt...	OMIM:309500
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Toriello-Lacassie-Droste Syndrome	Short nose, Anteverted nares	ORPHA:3339
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ...	OMIM:607872
Turnpenny-Fry Syndrome	Torticollis, Facial hypotonia, Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve p...	OMIM:618371
Spondyloocular Syndrome	Mitral valve prolapse, Low posterior hairline, Webbed neck, Atrial septal defect, Dysplastic aort...	OMIM:605822
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis	OMIM:223900
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Holopr...	OMIM:615948
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Dilatation of the ventricular cavity, Pulmonary artery stenosis, Lower...	ORPHA:459070
Beckwith-Wiedemann Syndrome	Ureteral duplication, Nephroblastoma, Cardiomegaly, Nephrolithiasis, Hypercalciuria, Congenital m...	ORPHA:116
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Anteverted nares, Choanal atresia, Accessory oral frenulum, Cleft...	ORPHA:672
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Anomalous origin of l...	ORPHA:438213
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Broad neck, Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve pro...	ORPHA:363700
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Cutis marmorata, Ventricular septal defect, Congenital diaphragmatic h...	OMIM:135900
Branchiooculofacial Syndrome	Depressed nasal bridge, Micrognathia, Broad nasal tip, Cleft upper lip, Lower lip pit, Cleft of c...	OMIM:113620
Proteus Syndrome	Enlarged polycystic ovaries, Long penis, Arteriovenous malformation, Renal cyst	ORPHA:744
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis	ORPHA:293987
Immunodeficiency 87 And Autoimmunity	Jaundice, Dilated cardiomyopathy, Biventricular hypertrophy, Atrial septal defect, Atrioventricul...	OMIM:619573
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Renal cyst	ORPHA:495875
Sotos Syndrome	Hip contracture, Ventricular septal defect, Ankle flexion contracture, No permanent dentition, Pa...	ORPHA:821
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal ...	OMIM:601803
Kabuki Syndrome 1	Atrial septal defect, Hydrocephalus, Ventricular septal defect, Coarctation of aorta	OMIM:147920
Bardet-Biedl Syndrome 20	Atrial septal defect	OMIM:619471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrial septal defect, Death in infancy, Perianal erythema, Ectodermal dysplasia, Death in childho...	OMIM:308205
Lipodystrophy, Familial Partial, Type 7	Short nose, Recurrent pancreatitis, Narrow nasal ridge, Narrow mouth	OMIM:606721
Genitopatellar Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Atrial septal defect, Micropenis, Hydron...	OMIM:606170
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia	ORPHA:2052
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Short neck	OMIM:250220
Goodpasture Syndrome	Cyanosis	OMIM:233450
Diphallia	Atrial septal defect, Abnormal heart morphology	ORPHA:227
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent urinary tract infections, Dilatation of the ventr...	ORPHA:90349

Histopathology

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

Phenotype	Allele	Zygosity	Sex	Life Stage
Liver - lipid deposition	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ltbp1.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ltbp1^{tm1a(EUCOMM)Wtsi} Ltbp1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ltbp1^{tm1a(EUCOMM)Wtsi}	PMC6459510
Abrogation of both short and long forms of latent transforming growth factor-β binding protein-1 causes defective cardiovascular development and is perinatally lethal.	Matrix biology : journal of the International Society for Matrix Biology (March 2015)	Ltbp1^{tm1c(EUCOMM)Wtsi} Ltbp1^{tm1a(EUCOMM)Wtsi}	PMC4547347

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ltbp1^{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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Gene: Ltbp1 MGI:109151

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Ltbp1 mutations

Histopathology

IMPC related publications

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