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Gene: Cc2d2a MGI:1924487

Gene Summary

Name:

coiled-coil and C2 domain containing 2A

Synonyms:

5730509K17Rik, b2b1035Clo

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.

No results meet the p-value threshold

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lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

Cc2d2a^{tm1a(EUCOMM)Wtsi}
body, WT, Female, WTSI

Cc2d2a^{tm1a(EUCOMM)Wtsi}
head, WT, Female, WTSI

View all 146 images

Cc2d2a^{tm1a(EUCOMM)Wtsi}
corneal opacity, cornea/lens fusion, right eye, HET, Female, WTSI

Cc2d2a^{tm1a(EUCOMM)Wtsi}
narrow eye opening, corneal opacity, corneal vascularization, cornea/lens fusion, left eye, HET, Female, WTSI

Cc2d2a^{tm1a(EUCOMM)Wtsi}
narrow eye opening, right eye, HET, Female, WTSI

Cc2d2a^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

Cc2d2a^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Cc2d2a^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Human diseases caused by Cc2d2a 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 Cc2d2a (8 diseases)
Human diseases predicted to be associated with Cc2d2a (2258 diseases)

The table below shows human diseases associated to Cc2d2a by orthology or direct annotation.

Disease	Matching phenotypes	Source
Meckel Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preax...	ORPHA:564
Joubert Syndrome With Oculorenal Defect	Nephropathy, Highly arched eyebrow, Chorioretinal coloboma, Low-set, posteriorly rotated ears, Re...	ORPHA:2318
Meckel Syndrome, Type 6	Postaxial foot polydactyly, Cleft upper lip, Aplasia of the bladder, Horseshoe kidney, Hepatic cy...	OMIM:612284
Joubert Syndrome With Hepatic Defect	Low-set ears, Nephropathy, Multicystic kidney dysplasia, Highly arched eyebrow, Occipital encepha...	ORPHA:1454
Coach Syndrome 2	Hypertension, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
Joubert Syndrome 9	Ventriculomegaly, Stage 5 chronic kidney disease, Encephalocele, Retinal dystrophy	OMIM:612285
Retinitis Pigmentosa	Optic atrophy, Conductive hearing impairment, Attenuation of retinal blood vessels, Abnormality o...	ORPHA:791
Retinitis Pigmentosa 93	Retinal dots, Rod-cone dystrophy	OMIM:619845

The table below shows human diseases predicted to be associated to Cc2d2a by phenotypic similarity.

Disease	Matching phenotypes	Source
Gombo Syndrome	Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Delayed puberty, Brachydacty...	OMIM:233270
Congenital Absence Of Upper Arm And Forearm With Hand Present	Renal agenesis, Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb ...	ORPHA:294975
Conotruncal Heart Malformations	Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ...	OMIM:217095
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation, Limited elbow exte...	ORPHA:401935
Microphthalmia/Coloboma 5	Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Genitopalatocardiac Syndrome	Cleft upper lip, Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the g...	OMIM:231060
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, Complete atrioventricular canal ...	OMIM:217085
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Short distal phalanx of finger, Renal agenesis, Intrauterine growth retardat...	ORPHA:2516
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Cardioacrofacial Dysplasia 2	Conical tooth, Postaxial foot polydactyly, Atrioventricular canal defect, Genu valgum, Clinodacty...	OMIM:619143
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra...	OMIM:208530
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ...	OMIM:613854
Verheij Syndrome	Short 5th finger, Renal hypoplasia, Clinodactyly, Renal agenesis, Long philtrum, Intrauterine gro...	OMIM:615583
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Short distal phalanx of finger, Truncus arteriosus, Ventricular septal...	OMIM:601355
Meckel Syndrome, Type 8	Cleft upper lip, Hyperechogenic kidneys, Anophthalmia, Polydactyly, Talipes equinovarus, Micropht...	OMIM:613885
Cardioacrofacial Dysplasia 1	Conical tooth, Diastema, Atrioventricular canal defect, Genu valgum, Complete atrioventricular ca...	OMIM:619142
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Tetralogy of Fallot, ...	ORPHA:210122
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Preaxial polydactyly, Crossed fused renal ectopia, Overlapping toe, Ov...	OMIM:618142
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Nephronophthisis 16	Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise...	OMIM:615382
Pseudotrisomy 13 Syndrome	Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, Cleft upper lip, Microphthalmia, Co...	OMIM:264480
Chromosome 22Q11.2 Deletion Syndrome, Distal	Intrauterine growth retardation, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, S...	OMIM:611867
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Intestinal malrotation, Anophthalmia, Ventricular septal defect, Microph...	OMIM:615524
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot,...	ORPHA:2008
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ...	OMIM:618845
Chime Syndrome	Ventricular septal defect, Abnormality of the kidney, Short foot, Hip dislocation, Aplasia/Hypopl...	ORPHA:3474
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Mmep Syndrome	Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Micropht...	ORPHA:3434
Robinow Syndrome	Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Marked delay in eruption of perma...	ORPHA:97360
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Disproportionate short-limb short stature, Ne...	OMIM:225500
Distal Deletion 19P	Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, Long toe, Pulmonary valve at...	ORPHA:96129
Adams-Oliver Syndrome 6	Renal hypoplasia, Foot oligodactyly, Truncus arteriosus, Ventricular septal defect, Brachydactyly...	OMIM:616589
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ...	OMIM:615297
Recombinant Chromosome 8 Syndrome	Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l...	OMIM:179613
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati...	OMIM:220210
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis, Situs inversus totalis	OMIM:614844
Sandestig-Stefanova Syndrome	Clinodactyly, Muscular ventricular septal defect, Intrauterine growth retardation, Bilateral sing...	OMIM:618804
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Trisomy 13	High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Ectrod...	ORPHA:3378
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Carious teeth, Velopharyngeal insufficiency, Thick upper lip vermilion, Overlapping toe, Atrial s...	ORPHA:363444
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Intestinal malrotation, Narrow mouth, Heterotaxy, Tr...	ORPHA:3426
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Hand polydactyly, Atrial septal defect, Everted lower lip vermilion, S...	OMIM:249670
Microphthalmia, Syndromic 9	Anophthalmia, Ventricular septal defect, Atrial septal defect, Single ventricle, Patent ductus ar...	OMIM:601186
Eng-Strom Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Brachydactyl...	ORPHA:1937
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect, Single transverse palmar crease, Adducted thumb, Brachydactyl...	OMIM:620062
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Cleft lip, Clinodactyly, Biventricular hypertrophy, Coronary artery fistu...	OMIM:619343
Sonoda Syndrome	Short stature, Narrow mouth, High axial triradius, Ventricular septal defect	OMIM:270460
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ...	OMIM:265380
Heart Defects-Limb Shortening Syndrome	Disproportionate short stature, Mesomelic/rhizomelic limb shortening, Abnormal tricuspid valve mo...	ORPHA:1354
Joubert Syndrome 18	Horseshoe kidney, Intrauterine growth retardation, Trident pelvis, Ventricular septal defect, Bow...	OMIM:614815
Trisomy 17P	Aortic valve stenosis, Narrow mouth, High palate, Polycystic kidney dysplasia, Patent ductus arte...	ORPHA:261290
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Oro...	ORPHA:3427
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Elbow dislocation, Esophagitis, Anophthalmia, Perineal fistula, Ren...	ORPHA:2538
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Ventricular s...	OMIM:190685
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Vesicoureteral reflux, Abnorma...	ORPHA:1166
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Small hand, Right ventricular dilatation, Prominent fingertip pads, Sandal g...	OMIM:612863
Meacham Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Scimitar anomaly, Right aortic arc...	OMIM:608978
Feingold Syndrome 2	Short thumb, 3-4 toe syndactyly, Postnatal growth retardation, Short middle phalanx of the 2nd fi...	OMIM:614326
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d...	OMIM:142900
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Right aortic arch, Renal insuffici...	OMIM:617478
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa...	ORPHA:1909
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malrotation, Dextrotransposi...	OMIM:619657
Thomas Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Cleft upper lip, Renal hypoplasia/aplasia, ...	ORPHA:3316
Megabladder, Congenital	Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis...	OMIM:618719
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Ventricular ...	OMIM:146510
8P23.1 Duplication Syndrome	Toe syndactyly, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Th...	ORPHA:251076
Feingold Syndrome Type 2	Toe syndactyly, Short thumb, Ventricular septal defect, Jejunal atresia, Brachydactyly, Short sta...	ORPHA:391646
Emanuel Syndrome	Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, D...	OMIM:609029
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardio...	OMIM:620642
Feingold Syndrome Type 1	Toe syndactyly, Multiple muscular ventricular septal defects, Abnormality of the kidney, Anal atr...	ORPHA:391641
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Hypertrophic cardiomyopathy, Femoral bowing, Situs inversus totalis, Hepat...	OMIM:615415
Van Esch-O'Driscoll Syndrome	Bifid uvula, Downturned corners of mouth, Intrauterine growth retardation, Wide mouth, Ventricula...	OMIM:301030
Meckel Syndrome, Type 4	Intrauterine growth retardation, Ventricular septal defect, Bowing of the long bones, Renal cyst,...	OMIM:611134
Stankiewicz-Isidor Syndrome	Absent thumb, Short thumb, Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Mic...	OMIM:617516
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Secundum atrial septal defect	OMIM:620203
Catel-Manzke Syndrome	Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Radial deviation of the 2n...	ORPHA:1388
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly,...	OMIM:615996
Pierre Robin Syndrome	Cor pulmonale, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Birk-Aharoni Syndrome	Muscular ventricular septal defect, Duplicated collecting system, Micropenis	OMIM:620071
Holzgreve Syndrome	Hypoplastic left heart, Renal hypoplasia, Renal agenesis, Cleft upper lip, Hand polydactyly, Clef...	OMIM:236110
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Syntelencephaly, Hydrocephalus, Holoprosen...	OMIM:609637
Meier-Gorlin Syndrome 7	Narrow mouth, Ventricular septal defect, Urethral stricture, Aplasia/Hypoplasia of the patella, M...	OMIM:617063
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Sandal gap, Intrauterine growth retardation, Ventric...	ORPHA:2515
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence, Carious teeth, Downturned corners of mouth, Multiple muscular ventricular s...	OMIM:620070
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu...	OMIM:617927
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Cerebral berry aneurysm, Mitral valve pr...	OMIM:173900
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Emanuel Syndrome	Aortic valve stenosis, Tooth malposition, Ventricular septal defect, Atrial septal defect, Anal a...	ORPHA:96170
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Long philtrum, Tetralogy of Fallot, Intestinal malrotation, Overlapping t...	OMIM:618316
Duane-Radial Ray Syndrome	Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Small thenar eminen...	OMIM:607323
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Trisomy 1Q	Multicystic kidney dysplasia, Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger,...	ORPHA:261344
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormality of the dentition, Small hand, Disproportionate short stature, Dental crowding, Abnorm...	ORPHA:2868
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Xk Aprosencephaly Syndrome	Narrow mouth, Ventricular septal defect, Atrial septal defect, Abnormal morphology of the radius,...	ORPHA:3469
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Hamartoma of tong...	OMIM:617925
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Unilateral radial aplasia, Eruption failure, Long philtrum, Dental ...	ORPHA:476126
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anophthalmia, Talipes e...	OMIM:206920
Scimitar Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At...	ORPHA:185
Monosomy 13Q34	Postaxial foot polydactyly, Growth delay, Postaxial hand polydactyly, Common atrium, Fetal pyelec...	ORPHA:96168
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Ventricular septal d...	ORPHA:2473
Distal Triplication 15Q	Dilatation of the renal pelvis, Abnormal heart morphology, Horseshoe kidney, Intrauterine growth ...	ORPHA:314588
Distal 22Q11.2 Microdeletion Syndrome	Toe syndactyly, Ankyloglossia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Bowing of...	ORPHA:261330
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of toes, Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe syndactyly, Persi...	ORPHA:3304
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Hepatic cysts, Ventricular septal defect, Renal cyst, Duplication of p...	OMIM:263630
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Long philtru...	ORPHA:1988
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Short humerus, Hydronephrosis, Persistent left superior vena cava,...	OMIM:314390
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Abnormal heart morphology, Stage 5 chronic kidney disease, Hydronephro...	OMIM:613390
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Bilateral single ...	ORPHA:3033
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus	ORPHA:1208
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Sandal gap, Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal de...	ORPHA:477817
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat...	OMIM:607941
Hamamy Syndrome	Dental malocclusion, Long philtrum, Complete atrioventricular canal defect, High palate, Down-slo...	OMIM:611174
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Tetralogy of Fallot, Abnormal mitral valve m...	ORPHA:1919
Joubert Syndrome 15	Nephronophthisis, Preaxial polydactyly, Retinopathy, Exencephaly, Micropenis, Retinal dystrophy	OMIM:614464
Microhydranencephaly, X-Linked	Holoprosencephaly	OMIM:306990
Oculoauriculovertebral Spectrum With Radial Defects	Preaxial hand polydactyly, Atrioventricular canal defect, Distal urethral duplication, Wide mouth...	ORPHA:2549
8Q24.3 Microdeletion Syndrome	Infancy onset short-trunk short stature, Ventricular septal defect, Short hallux, Abnormality of ...	ORPHA:508488
Biemond Syndrome Type 2	Preaxial polydactyly, Delayed puberty, Hydrocephalus, Microphthalmia, Short stature, Hypospadias	ORPHA:141333
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca...	OMIM:619371
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Overlapping toe, Ventricular septal defect, Bicuspid aortic valve, Broad phalanx, Mi...	ORPHA:508498
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu...	OMIM:614091
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Growth delay, Postaxial oligodactyly, Talipes equinovarus, Atrial septal defect...	ORPHA:52056
Heterotaxy, Visceral, 5, Autosomal	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef...	OMIM:270100
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ...	OMIM:620570
Odontochondrodysplasia 1	Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ...	OMIM:184260
Tetralogy Of Fallot	Tetralogy of Fallot, Intrauterine growth retardation, Brachydactyly, Thin vermilion border, Clino...	ORPHA:3303
Maternal Phenylketonuria	Hypoplastic left heart, Clinodactyly, Long philtrum, Tetralogy of Fallot, Abnormal heart morpholo...	ORPHA:2209
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Orofaciodigital Syndrome Xvii	High, narrow palate, Renal hypoplasia, Clinodactyly, Tetralogy of Fallot, Short middle phalanx of...	OMIM:617926
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Anophthalmia, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atre...	ORPHA:77298
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect	OMIM:613730
Faciocardiorenal Syndrome	Horseshoe kidney, Endocardial fibroelastosis, Narrow mouth, Tricuspid valve prolapse, Smooth phil...	ORPHA:1973
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal...	OMIM:613095
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Small hand, Clinodactyly, Anteriorly placed anus, Aortic valve prol...	OMIM:619980
Oculofaciocardiodental Syndrome	Tooth malposition, Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Microphthalmia, Pat...	ORPHA:2712
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Postaxial foot polydactyly, Overlapping fingers, Ventricular septal defect, Talipes equinovarus, ...	OMIM:301056
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal heart morphology, Smooth philtrum, Narrow greater sciatic notch, Ulnar deviation of the ...	OMIM:263210
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Colon perforation, Microcolon, Total absence of the pericardium, Hypopla...	OMIM:600001
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Long ...	OMIM:618494
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At...	ORPHA:3384
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip...	ORPHA:93323
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Long philtrum, Narrow mouth, Exaggerated cupid's bow, Ventricul...	ORPHA:261120
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda...	ORPHA:261243
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Prominent veins on ...	OMIM:277740
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growth retardation, Complete atri...	OMIM:236680
8p23.1 deletion syndrome	Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect	DECIPHER:39
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Long philtrum, Tetralogy of Fallot, Atrial septal defect, Mi...	OMIM:300887
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, Single transverse palmar crease, Atrial septal defect, High p...	OMIM:618354
Leopard Syndrome 1	Unilateral renal agenesis, Hypertrophic cardiomyopathy, Delayed menarche, Complete atrioventricul...	OMIM:151100
Hadziselimovic Syndrome	Ventricular hypertrophy, Renal hypoplasia, Thick lower lip vermilion, Tetralogy of Fallot, Ventri...	OMIM:612946
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Joint contracture of the hand, Abnormal heart morphology, Intrauterine growth reta...	OMIM:214110
Distal 7Q11.23 Microdeletion Syndrome	Patent ductus arteriosus, Atrial septal defect	ORPHA:254351
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial hand polydacty...	OMIM:263520
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal de...	OMIM:235750
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Holoprosencephaly, Hydrocephalus	OMIM:617967
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Bifid uvula, Short thumb, Cleft upper lip, Tetralogy of Fallot, Mitral v...	OMIM:612561
Orofaciodigital Syndrome Type 6	Midline notch of upper alveolar ridge, Renal agenesis, Finger clinodactyly, Preaxial polydactyly,...	ORPHA:2754
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly	OMIM:300706
Czeizel-Losonci Syndrome	2-3 finger syndactyly, Dextrocardia, Low-set, posteriorly rotated ears, Myelomeningocele, Uretera...	ORPHA:2437
Nemaline Myopathy 9	High palate, Cleft palate, Ventricular septal defect	OMIM:615731
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Polydactyly, Ventricular septal defect, Smooth philtrum, Microphthalmia, Syndactyly	OMIM:602501
Congenital Disorder Of Glycosylation, Type Il	Long philtrum, Villous atrophy, Wide mouth, Atrial septal defect, Pericardial effusion, Polycysti...	OMIM:608776
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Cat Eye Syndrome	Ventricular septal defect, Atrial septal defect, Rectal atresia, Absent radius, Microphthalmia, A...	OMIM:115470
Alagille Syndrome 2	Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,...	OMIM:610205
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Ventricular septal defect, Arachnodactyly, 2-3 fin...	ORPHA:1692
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, High palate, Polycystic kidney dysplasi...	OMIM:311200
Femoral-Facial Syndrome	Toe syndactyly, Humeroradial synostosis, Ventricular septal defect, Limited elbow movement, Talip...	OMIM:134780
Distal Deletion 15Q	Multicystic kidney dysplasia, Small hand, Postnatal growth retardation, Genu valgum, Bicuspid aor...	ORPHA:1596
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Stage 5 chronic ...	OMIM:615994
Kapur-Toriello Syndrome	Joint contracture of the hand, Abnormality of the urinary system, Short thumb, Cleft upper lip, C...	OMIM:244300
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Dextrocardia, Patent ...	OMIM:618280
Mosaic Trisomy 20	Cleft lip, Clinodactyly, Horseshoe kidney, Intrauterine growth retardation, Abnormal mitral valve...	ORPHA:1724
Prune Belly Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Volvulus, Recurrent urinar...	ORPHA:2970
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Bilateral single transverse palmar creases,...	ORPHA:1913
Ivic Syndrome	Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ...	OMIM:147750
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran...	OMIM:606217
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Cone-shaped epip...	OMIM:613091
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl...	OMIM:616730
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Narrow mouth, Ventricular septal defect, Abnormal cardiac septum morphology, Postaxial hand polyd...	ORPHA:83473
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Narrow mouth, Abnormal m...	ORPHA:2370
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Meckel Syndrome 14	Postaxial foot polydactyly, Bowing of the long bones, Postaxial polydactyly, Single ventricle, Mi...	OMIM:619879
Holt-Oram Syndrome	Hypoplastic left heart, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ...	ORPHA:392
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Ventricular septal defect, ...	OMIM:614262
Intellectual Developmental Disorder, Autosomal Recessive 73	Widely spaced teeth, Thick upper lip vermilion, Single transverse palmar crease, Ventricular sept...	OMIM:619717
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ...	ORPHA:90652
Microphthalmia, Syndromic 2	Aortic valve stenosis, Hand clenching, Anophthalmia, Mitral valve prolapse, Ventricular septal de...	OMIM:300166
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Lethargy, Retinopathy	ORPHA:26
3C Syndrome	Aortic valve stenosis, Finger syndactyly, Postnatal growth retardation, Abnormal mitral valve mor...	ORPHA:7
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Short 5th finger, Short distal phalanx of fing...	OMIM:220500
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Elevated urinary dihydrothymine level, Lethargy, Microphthalmia, Uraciluria, Growt...	OMIM:274270
Sotos Syndrome	High, narrow palate, Narrow palate, Long metacarpals, Muscular ventricular septal defect, Genu va...	OMIM:117550
Li-Campeau Syndrome	Patellar hypoplasia, Long philtrum, Patent foramen ovale, Ventricular septal defect, Single trans...	OMIM:619189
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Abnormal hair morphology, Spina bifida, ...	ORPHA:64754
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Smoot...	OMIM:618652
Ellis Van Creveld Syndrome	Synostosis of carpal bones, Abnormality of the ureter, Genu valgum, Ventricular septal defect, Re...	ORPHA:289
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t...	OMIM:618300
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Renal agenesis, Muscular ventricular septal defect, Submucous cleft ha...	OMIM:619227
17Q12 Microduplication Syndrome	Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Atrial septal defect, Microphthalmi...	ORPHA:261272
3P25.3 Microdeletion Syndrome	Broad thumb, Overlapping toe, Ventricular septal defect, 2-3 finger syndactyly, Atrial septal def...	ORPHA:435638
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Clinodactyly, IgA deposition in the glomerulus, Ventricular se...	OMIM:618348
Dislocation Of The Hip-Dysmorphism Syndrome	Congenital hip dislocation, Abnormality of the urinary system, Deviation of finger, Abnormal tric...	ORPHA:2412
Abruzzo-Erickson Syndrome	Ulnar deviation of finger, Toe syndactyly, Short toe, Abnormal palate morphology, Radioulnar syno...	ORPHA:921
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 3rd metacarpal, Short 4th toe, Short thumb, 2-4 toe cutaneous syndactyly, Muscular ventricu...	OMIM:618569
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Glossoptosis, Ventricular septal defect	OMIM:614876
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mouth, Abnormal metaphysis morph...	ORPHA:93267
Gillespie Syndrome	Hypoplasia of the iris, Aniridia, Truncus arteriosus	OMIM:206700
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Alopecia, Anophthalmia, Orbital encephalocele, Microphthalmia, Dandy-...	OMIM:164180
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c...	OMIM:605376
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency, Polydactyly	OMIM:615987
Temple-Baraitser Syndrome	Short distal phalanx of finger, Broad thumb, Broad hallux, Downturned corners of mouth, Long phil...	OMIM:611816
Tetralogy Of Fallot	Tetralogy of Fallot, Clinodactyly of the 5th finger	OMIM:187500
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Sandal gap, Long philtrum, Ventricular septal defect, Thin upper lip vermil...	OMIM:616652
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Broad alveolar ridges, Delayed eruption of teeth, Camptodactyly of finger, ...	ORPHA:2863
Vater/Vacterl Association	Postnatal growth retardation, Ventricular septal defect, Radioulnar synostosis, Absent radius, An...	OMIM:192350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Syndactyly, Hydrocephalus, Postaxial hand polydactyly	OMIM:615938
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Thick lower lip vermilion, Ventricular septal defect, Atrial septal defect, Short philtrum, Widel...	OMIM:608227
Chromosome 15Q14 Deletion Syndrome	Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Atrial septal defect, Everted l...	OMIM:616898
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, Mitral valve prol...	ORPHA:371428
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Frontonasal Dysplasia 1	Joint contracture of the hand, Clinodactyly, Radial deviation of finger, Tetralogy of Fallot, Pec...	OMIM:136760
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval...	ORPHA:555874
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Genu valgum, Abnormal palate morphology, Anal atresia, Aplasia/Hypoplasia of...	ORPHA:1381
Frank-Ter Haar Syndrome	Mitral valve prolapse, Ventricular septal defect, Bowing of the long bones, Talipes equinovarus, ...	OMIM:249420
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Chromosome 3Pter-P25 Deletion Syndrome	Downturned corners of mouth, Long philtrum, Atrioventricular canal defect, Postnatal growth retar...	OMIM:613792
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Bro...	OMIM:175700
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Ventricular septal defect	ORPHA:1918
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis	OMIM:178651
Carpenter Syndrome 1	Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Ventricula...	OMIM:201000
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact...	ORPHA:3098
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de...	ORPHA:1120
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Global Developmental Delay With Or Without Impaired Intellectual Development	Ventricular septal defect, Oligodontia, Thin upper lip vermilion, Atrial septal defect, Short sta...	OMIM:618330
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Natal tooth, Clinodactyly, Abnormality of the ureter, Bowing of the l...	OMIM:249000
Trisomy X	Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Atrial septal ...	ORPHA:3375
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Cleft upp...	OMIM:600987
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal defect, Postaxial poly...	OMIM:615503
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Downturned corners of mouth, Ventricular septal defect, Short philtrum, Ectopic anus, Aplasia/Hyp...	ORPHA:94066
Bardet-Biedl Syndrome 16	Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly, Renal cyst, Sho...	OMIM:615993
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Hartsfield Syndrome	Encephalocele, Lobar holoprosencephaly, Microphthalmia	ORPHA:2117
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Polycystic kidney dysplasia, Vascular dilatation	OMIM:614859
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Joubert Syndrome 39	Hypoplastic left heart, Postaxial polydactyly, Polycystic kidney dysplasia, Joint contracture of ...	OMIM:619562
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Postaxial polydactyly, ...	OMIM:616546
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy, Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Widely spaced teeth, Postnatal growth retardation, Intrauterine gro...	ORPHA:2728
Congenital Rubella Syndrome	Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Atria...	ORPHA:290
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Intellectual Developmental Disorder, Autosomal Recessive 79	Slender finger, Ventricular septal defect, Thin upper lip vermilion, Smooth philtrum, Short hallu...	OMIM:620393
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus	OMIM:615542
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie...	OMIM:115197
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Toe syndactyly, Overlapping toe, Ventricular septal defect, Talipes equino...	OMIM:601808
8Q12 Microduplication Syndrome	Long philtrum, Vesicoureteral reflux, Narrow mouth, Ventricular septal defect, Atrial septal defe...	ORPHA:228399
Fanconi Anemia, Complementation Group I	Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, Horseshoe kidney, Intrauterine...	OMIM:609053
Hydrolethalus	Low-set ears, Micromelia, Low-set, posteriorly rotated ears, Anophthalmia, Tracheal atresia, Hydr...	ORPHA:2189
Joubert Syndrome 14	Open mouth, Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Renal c...	OMIM:614424
Meckel Syndrome, Type 11	Polycystic kidney dysplasia, Polydactyly	OMIM:615397
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Tapered toe, Dilated cardiomyopathy, Renal dysplasia, Elbow flexion contracture, R...	OMIM:608836
Teebi-Shaltout Syndrome	Aortic valve stenosis, Caudal appendage, Narrow mouth, Ventricular septal defect, Talipes equinov...	OMIM:272950
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Talipes equinovarus, Microphthalmia, Rocker bottom foot, Cleft p...	OMIM:616570
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Ventric...	OMIM:210710
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Postnatal growth retardation, Intrauterine growth retard...	OMIM:272440
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep...	OMIM:614980
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Renal dysplasia, Intestinal malrotation, Stage 5 chronic kidney disease, S...	OMIM:208540
Floating-Harbor Syndrome	Carious teeth, Dilatation of the renal pelvis, Clinodactyly, Atrial septal defect, Broad fingerti...	ORPHA:2044
Lowry-Maclean Syndrome	Abnormal heart morphology, Intrauterine growth retardation, Delayed eruption of teeth, Cleft palate	OMIM:600252
Ebstein Malformation Of The Tricuspid Valve	Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card...	ORPHA:1880
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Mosaic Trisomy 9	Elbow dislocation, Endocardial fibroelastosis, Ventricular septal defect, Talipes equinovarus, At...	ORPHA:99776
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:615990
Alg12-Cdg	Sandal gap, Biventricular hypertrophy, Muscular ventricular septal defect, Ulnar deviation of the...	ORPHA:79324
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Broad thumb, Growth delay, Tetralogy of Fallot, Hypertrophic cardiomyopat...	ORPHA:251071
Microphthalmia/Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia	OMIM:616428
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Muscular ventricular septal defect, Intrauterine growth retardation, 3-Me...	ORPHA:66634
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Microphthalmia, Anal atresia, Flat acetabular roof, Patent ductus arter...	OMIM:616300
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Phelan-Mcdermid Syndrome	Dental malocclusion, Long philtrum, Widely spaced teeth, Vesicoureteral reflux, Ventricular septa...	OMIM:606232
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Downturned corners of mouth, Intrauterine growth retardation, Brach...	ORPHA:2075
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Type E brachydactyly, Short 4th metacarpal, Atrial septal defect, Short stature, Short metatarsal	OMIM:113301
Bardet-Biedl Syndrome 5	Polydactyly, Macular dystrophy, Brachydactyly, Rod-cone dystrophy, Micropenis, Syndactyly	OMIM:615983
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly	OMIM:615937
Walker-Warburg Syndrome	Low-set ears, Optic atrophy, Ventriculomegaly, Abnormal optic nerve morphology, Metatarsus valgus...	ORPHA:899
Distal Deletion 12Q	Overlapping toe, Micropenis, Large hands, Ectopic kidney, Duodenal atresia, Polycystic kidney dys...	ORPHA:96149
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Hypospadias, Situs inversus totalis, Renal dysplasia	OMIM:615985
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Cleft soft palate, Smooth philtrum, Esophageal atresia, Brachydactyly, Atrial septal...	OMIM:614526
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Unilateral cleft lip, Recurrent urinary tract infections, Horseshoe kidney, Thick lower lip vermi...	OMIM:619103
Intellectual Developmental Disorder, Autosomal Recessive 71	Unilateral renal agenesis, Abnormally large globe, Increased overbite, Ventricular septal defect,...	OMIM:618504
22Q11.2 Deletion Syndrome	Carious teeth, Narrow mouth, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Atri...	ORPHA:567
Syndromic Diarrhea	Peripheral pulmonary artery stenosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of F...	ORPHA:84064
Cerebrooculonasal Syndrome	Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max...	ORPHA:66625
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri...	OMIM:620135
Charge Syndrome	Postnatal growth retardation, Unilateral microphthalmos, Anophthalmia, Ventricular septal defect,...	OMIM:214800
16P12.1P12.3 Triplication Syndrome	Short 5th finger, High, narrow palate, Prominent fingertip pads, Long philtrum, Abnormal heart mo...	ORPHA:485405
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Abnormal heart morphology, Clinodactyly of the 5th finger, Intrauterine growth retardation, Cleft...	ORPHA:231147
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Bicuspid aortic valve, Atrial septal defect, Microphthalmia, High p...	OMIM:612474
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ...	ORPHA:1106
2Q24 Microdeletion Syndrome	Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing...	ORPHA:1617
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Cardiomyopathy, Intrauterine growth retardation, Increased level of methylsuccinic...	ORPHA:26792
Fryns Microphthalmia Syndrome	Neural tube defect, Anophthalmia, Macrotia, Microphthalmia	OMIM:600776
Renpenning Syndrome	Severe short stature, High, narrow palate, Growth delay, Macrodontia, Narrow mouth, Abnormal thum...	ORPHA:3242
Diabetic Embryopathy	Tetralogy of Fallot, Abnormal aortic morphology, Ventricular septal defect, Hydronephrosis, Renal...	ORPHA:1926
Burn-Mckeown Syndrome	Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Cleft upper lip, Narrow mouth, Ventricu...	OMIM:608572
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly, Ta...	ORPHA:3306
Criss-Cross Heart	Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th...	ORPHA:1461
Hajdu-Cheney Syndrome	Foot acroosteolysis, Dental malocclusion, Long philtrum, Intestinal malrotation, Genu valgum, Fib...	OMIM:102500
Chromosome 15Q26-Qter Deletion Syndrome	Intrauterine growth retardation, Talipes equinovarus, Short stature, Brachydactyly, Abnormal card...	OMIM:612626
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Patellar aplasia, Bi...	ORPHA:3103
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, Sandal gap, Joint contracture of the 5th finger, Patent foramen ovale, Joint co...	OMIM:618914
Bardet-Biedl Syndrome 4	Abnormality of the dentition, Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, ...	OMIM:615982
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular...	OMIM:616276
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Ventricular septal defect...	OMIM:620511
Suleiman-El-Hattab Syndrome	Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Patent foram...	OMIM:618950
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Growth delay, Renal agenesis, Anomalous orig...	ORPHA:2326
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve...	OMIM:113000
Stevenson-Carey Syndrome	Joint contracture of the hand, Downturned corners of mouth, Recurrent urinary tract infections, M...	OMIM:611961
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Toe syndactyly, Broad thumb, Long philtrum, Ankyloglossia, Intrauterine ...	ORPHA:250989
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Long philtrum, Carpal synostosis, Muscular ventricular septal defect, Hors...	OMIM:157800
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Absent central microtubular pair morphology of respiratory motile cilia, ...	OMIM:620032
Lambert Syndrome	Intrauterine growth retardation, Wide mouth, Hypospadias, Ventricular septal defect	ORPHA:1296
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Micromelia, Abnormality of the ureter, Genu valgum, Arachnodactyly, Atrial septal def...	ORPHA:1035
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Situs inversus totalis, De...	OMIM:614679
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Postaxial foot polydactyly, Bicuspid aortic valve, Atrial septal defect, ...	OMIM:615981
Faciocardiomelic Syndrome	Dental malocclusion, Slender long bone, Long philtrum, Hypoplastic pelvis, Polydactyly, Common at...	OMIM:612731
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Abnormality of the ureter, Bilateral single transverse palmar creases, Ventricular s...	ORPHA:1770
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos, Bicuspid aortic valve, Sho...	OMIM:619318
Serkal Syndrome	Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Growth delay, R...	ORPHA:139466
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Ciliary Dyskinesia, Primary, 7	Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Situs inversu...	OMIM:611884
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Abnormality of the ear, Hydrocephalus	OMIM:600257
Joubert Syndrome With Ocular Defect	Highly arched eyebrow, Retinal coloboma, Low-set, posteriorly rotated ears, Encephalocele, Agangl...	ORPHA:220493
1Q21.1 Microduplication Syndrome	Tetralogy of Fallot, Talipes equinovarus, Hip dysplasia, Hypospadias, Hip dislocation	ORPHA:250994
Lambotte Syndrome	Preaxial foot polydactyly, Intrauterine growth retardation, Narrow mouth, Ventricular septal defect	OMIM:245552
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo...	ORPHA:404440
Fryns Syndrome	Multicystic kidney dysplasia, Microphthalmia, Anal atresia, High palate, Hypospadias, Non-midline...	ORPHA:2059
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ...	ORPHA:1727
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Hearing impairment, Sparse body hair, Hydrocephalus, Abnormal eyelash morph...	ORPHA:1008
Kapur-Toriello Syndrome	Tetralogy of Fallot, Intestinal malrotation, Ventricular septal defect, Orofacial cleft, Micropht...	ORPHA:2328
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Bifid uvula, Dysplastic pulmonary valve, Cleft palate, Cleft upper lip	OMIM:300958
Vissers-Bodmer Syndrome	Holoprosencephaly	OMIM:619033
Bifid Nose With Or Without Anorectal And Renal Anomalies	Unilateral renal agenesis, Renal agenesis, Anteriorly placed anus, Widely-spaced maxillary centra...	OMIM:608980
Congenital Heart Defects And Ectodermal Dysplasia	2-3 toe cutaneous syndactyly, Broad thumb, Widely spaced teeth, Atrioventricular canal defect, Pr...	OMIM:617364
Ciliary Dyskinesia, Primary, 12	Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia, Situs i...	OMIM:612650
Weill-Marchesani Syndrome	Aortic valve stenosis, Short thumb, Ventricular septal defect, Brachydactyly, Short stature, Pulm...	ORPHA:3449
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Br...	OMIM:619123
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial...	ORPHA:216694
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Marden-Walker Syndrome	High, narrow palate, Renal hypoplasia, Joint contracture of the hand, Long philtrum, Postnatal gr...	OMIM:248700
Transketolase Deficiency	Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ...	ORPHA:488618
Mucolipidosis Type Iii	Abnormal heart valve morphology, Abnormal hip bone morphology, Abnormal aortic valve morphology, ...	ORPHA:577
Orofaciodigital Syndrome V	Bifid uvula, Postaxial foot polydactyly, Sandal gap, Tetralogy of Fallot, Horseshoe kidney, Ankyl...	OMIM:174300
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Renal hypoplasia, Long philtrum, Intrauterine growth retardation, Ventricular septal defect, Pulm...	ORPHA:75389
Acitretin/Etretinate Embryopathy	Abnormality of the calcaneus, Atrioventricular canal defect, Conotruncal defect, Aplasia/hypoplas...	ORPHA:40366
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Microphthalmia, Retinal dysplasia	ORPHA:324416
Kabuki Syndrome 2	Short 5th finger, Natal tooth, Prominent fingertip pads, Dental malocclusion, Atrioventricular ca...	OMIM:300867
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Atrial septal defect, Thick vermilion borde...	OMIM:618499
Paternal Uniparental Disomy Of Chromosome 5	Abnormally large globe, Secundum atrial septal defect, Rhizomelic arm shortening, Renal duplicati...	ORPHA:96190
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Hyperechogenic kidneys, Intestinal malrotation, ...	OMIM:617866
Developmental And Epileptic Encephalopathy 36	Low-set ears, Optic atrophy, Small hand, Hydrocephalus	OMIM:300884
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Secundum atrial septal defect, Short thumb, Tetralogy of Fallot, Horse...	OMIM:612562
Coffin-Siris Syndrome 5	Short distal phalanx of finger, Sandal gap, Thick lower lip vermilion, Intrauterine growth retard...	OMIM:616938
Rhizomelic Limb Shortening With Dysmorphic Features	Short 5th finger, Rhizomelia, Prominent fingertip pads, Stage 1 chronic kidney disease, Short thu...	OMIM:618821
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Persistence of primary te...	ORPHA:46627
Kondoh Syndrome	Interphalangeal joint contracture of finger, Long philtrum, Preaxial hand polydactyly, Intrauteri...	OMIM:606242
Noonan Syndrome 3	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova...	OMIM:609942
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Broad thumb, Dilatation of the renal pelvis, Dark urine...	OMIM:619534
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Situs inversus totalis, Otitis media,...	OMIM:613807
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus...	ORPHA:2476
Tetrasomy 15Q26	Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis, Arachnodactyly, Atrial septal ...	OMIM:614846
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrauterine growth retardation, Epiphyseal stippling, Single transverse palmar crease, Ventricul...	OMIM:614866
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior...	ORPHA:244
Aortic Arch Interruption	Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ...	ORPHA:2299
Vitamin K Antagonist Embryofetopathy	Optic atrophy, Short distal phalanx of finger, Hearing impairment, Myelomeningocele, Intrauterine...	ORPHA:1914
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency,...	ORPHA:228308
Craniotelencephalic Dysplasia	Optic atrophy, Low-set, posteriorly rotated ears, Hydrocephalus, Frontal encephalocele, Microphth...	ORPHA:1528
Peroxisome Biogenesis Disorder 12A (Zellweger)	Renal tubular dysfunction, Double outlet right ventricle, Atrial septal defect, Short stature, Gr...	OMIM:614886
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul...	OMIM:613759
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Intrauterine growth retardation, Retinopathy, Talipes equinovarus, Macular atrophy...	OMIM:616171
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Intrauterine growth retardation, Ventricular septal defect, Renal cyst, Metaphy...	ORPHA:166035
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septal defect, Thick ve...	OMIM:618506
Distal Deletion 13Q	Holoprosencephaly, Anencephaly, Encephalocele, Aplasia/Hypoplasia affecting the eye	ORPHA:1590
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Talipes equinovarus, Aplasia/hypoplasia of the femur, D...	ORPHA:2839
Tyshchenko Syndrome	High, narrow palate, Narrow palate, Intrauterine growth retardation, Ventricular septal defect, A...	OMIM:615102
Li-Ghorbani-Weisz-Hubshman Syndrome	Downturned corners of mouth, Overlapping toe, Ventricular septal defect, Atrial septal defect, Th...	OMIM:618974
Roifman Syndrome	Short toe, Downturned corners of mouth, Long philtrum, Postnatal growth retardation, Irregular fe...	OMIM:616651
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Chronic otitis media, Abnormal respiratory motile cilium morphology	OMIM:612518
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Fing...	ORPHA:1507
Thrombocytopenia-Absent Radius Syndrome	Axial malrotation of the kidney, Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fal...	ORPHA:3320
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Postnatal growth retardat...	OMIM:610832
Orofaciodigital Syndrome Type 5	Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Non-midline clef...	ORPHA:2919
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Fifth finger distal phalanx clinodactyly, Broad secondary alveolar ridge, Postnatal growth retard...	ORPHA:3369
Rhizomelic Syndrome	Rhizomelia, Bifid distal phalanx of the thumb, Short stature, Hip dislocation, Pulmonic stenosis,...	OMIM:268250
Bardet-Biedl Syndrome 14	Renal insufficiency, Rod-cone dystrophy, Polydactyly	OMIM:615991
Lethal Faciocardiomelic Dysplasia	Hypoplastic left heart, Short 5th finger, Microglossia, Sandal gap, Short tibia, Short thumb, Rad...	ORPHA:1972
Polydactyly, Preaxial I	Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p...	OMIM:174400
Warsaw Breakage Syndrome	Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth retardation, Single transv...	OMIM:613398
Atrial Septal Defect 4	Coarctation of aorta, Atrial septal defect, Patent foramen ovale	OMIM:611363
Fetal Encasement Syndrome	Upper limb undergrowth, Tetralogy of Fallot, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydr...	OMIM:613630
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long phi...	OMIM:301022
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Dental crowding, Abnormal heart valve morphology, Mitral valve prolapse, S...	ORPHA:228410
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Long philtrum, Cleft upper lip, Postnatal growth retardation, Wide mouth, ...	OMIM:243310
Cat-Eye Syndrome	Intrauterine growth retardation, Renal hypoplasia/aplasia, Hydronephrosis, Anal atresia, Micropht...	ORPHA:195
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Abnormal heart morphology, Vesicoureteral reflux, Renal insufficiency,...	ORPHA:2237
Anophthalmia Plus Syndrome	Aplasia/Hypoplasia of the earlobes, Deviation of finger, Low-set, posteriorly rotated ears, Anoph...	ORPHA:1104
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Narrow mouth, Single transverse palmar crease, Coarctation of aorta, Atrial septal...	OMIM:615502
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Tooth malposition, Delayed eruption of teet...	OMIM:309350
Bardet-Biedl Syndrome 11	Retinopathy, Polydactyly	OMIM:615988
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Congestive heart failure, Sensorineural hearing impairment, Paroxysmal atrial tach...	ORPHA:49827
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:614432
Ventriculomegaly With Cystic Kidney Disease	Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy...	OMIM:219730
Even-Plus Syndrome	Epiphyseal dysplasia, Severe short stature, Renal hypoplasia, Recurrent urinary tract infections,...	OMIM:616854
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf...	ORPHA:980
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Reduced renal corticomedullary differentiati...	OMIM:619902
Fetal Alcohol Syndrome	Intrauterine growth retardation, Microdontia, Thin upper lip vermilion, Smooth philtrum, Atrial s...	ORPHA:1915
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Clubbing of toes, Downturned corners of mouth, Tetralogy of...	ORPHA:163956
Grange Syndrome	Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Short palm, Syndactyly	ORPHA:79094
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Desbuquois Syndrome	Severe short stature, Small hand, Disproportionate short-limb short stature, Elbow dislocation, C...	ORPHA:1425
Meckel Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preax...	ORPHA:564
Vacterl With Hydrocephalus	Abnormality of the outer ear, Microtia, third degree, Abnormal optic nerve morphology, Anotia, In...	ORPHA:3412
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Nail dysplasia, Sparse eyebrow, Sparse scalp hair, Abnormal respiratory motile cilium morphology	OMIM:225050
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Postnatal...	ORPHA:959
Bresek Syndrome	Low-set ears, Renal hypoplasia, Alopecia, Hearing impairment, Intrauterine growth retardation, Ve...	ORPHA:85284
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Situs inversus totalis	OMIM:615505
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Cardiomyopathy, Abnormal heart morphology, Scapular...	ORPHA:26791
Cerebrooculofacioskeletal Syndrome 4	Slender long bone, Flared metaphysis, Camptodactyly of finger, Abnormal heart morphology, Elbow f...	OMIM:610758
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Short stature, Clinodactyly of the 5th finger, High palate, Broad alve...	OMIM:314320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Retinal dysplasia, Hydrocephalus, Microphthalmia	OMIM:614830
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Dental crowding, Short toe, Sandal gap, Long philtrum, Short 5th metacarpal, Anterior open-bite m...	OMIM:617877
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Arachnodactyly, Atrial septal defect, Short stature, Cleft palate	ORPHA:93946
10Q22.3Q23.3 Microdeletion Syndrome	Atrioventricular canal defect, Intestinal polyposis, Curved middle phalanx of the 4th toe, Tricus...	ORPHA:276413
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Ulnar deviation of finger, Long philtrum, Camptodactyly of finger, Aniridia,...	ORPHA:1101
Monosomy 18Q	Aortic valve stenosis, Open mouth, Arachnodactyly, Talipes equinovarus, High palate, Patent ductu...	ORPHA:1600
Kury-Isidor Syndrome	Growth delay, Finger syndactyly, Long philtrum, Widely spaced teeth, Tented upper lip vermilion, ...	OMIM:619762
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Small hand, Clinodactyly, Downturned corners of mouth, Abnormal heart morphology, Postnatal growt...	ORPHA:254525
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Single transverse palmar crease, Microp...	OMIM:619053
Cohen Syndrome	Finger syndactyly, Genu valgum, Open mouth, Mitral valve prolapse, Ventricular septal defect, Ara...	ORPHA:193
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Disproportionate short-limb short stature, Micromelia, Intrauterine growt...	ORPHA:2772
Pineocytoma	Increased CSF protein concentration, Hearing abnormality, Hydrocephalus	ORPHA:251912
Marden-Walker Syndrome	Multicystic kidney dysplasia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Radioulnar...	ORPHA:2461
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial...	OMIM:613426
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Postn...	OMIM:200990
Congenital Toxoplasmosis	Ventriculomegaly, Hearing impairment, Intrauterine growth retardation, Abnormality of retinal pig...	ORPHA:858
Tarp Syndrome	Clinodactyly, Talipes equinovarus, Atrial septal defect, Bilateral talipes equinovarus, High pala...	OMIM:311900
Cerebrooculonasal Syndrome	Low-set ears, Sparse eyebrow, Ventriculomegaly, Conductive hearing impairment, Postnatal growth r...	OMIM:605627
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic...	OMIM:618164
Pierpont Syndrome	Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Thin vermilion border, Pr...	OMIM:602342
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes...	ORPHA:3405
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Postnatal growth ret...	OMIM:619135
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Postaxial foot polydactyly, Stage 5 chronic ...	OMIM:267010
Ciliary Dyskinesia, Primary, 38	Conductive hearing impairment, Situs inversus totalis, Dextrocardia, Absent inner and outer dynei...	OMIM:618063
Meckel Syndrome, Type 2	Intestinal malrotation, Intrauterine growth retardation, Polydactyly, Bowing of the long bones, R...	OMIM:603194
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Renal dysplasia, Accessory oral frenu...	OMIM:277170
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Situs inversus totalis, Absent respiratory ciliary axoneme radial spokes	OMIM:616481
Anencephaly 2	Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anophthalmia	OMIM:619452
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Absent outer dynein arms, Situs inversus totalis, Absent inner dynein arms	OMIM:613193
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Intrauterine growth retardation, Bicuspid aortic valve, Atrial septal defect, Short stature, Grow...	OMIM:617744
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall...	OMIM:300963
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Ventricular septal defect...	OMIM:280000
Turnpenny-Fry Syndrome	Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Mitral valve prolapse, Atrial septal def...	OMIM:618371
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve	OMIM:619492
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Toe syndactyly, Long philtrum, Camptodactyly of finger, Ventricular se...	ORPHA:261337
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Duodenal atresia, Median cleft palate, Patent foramen ovale, Ventricular ...	OMIM:301043
Camptosynpolydactyly, Complex	Toenail dysplasia, Small nail, Polydactyly, Nail dysplasia, Cutaneous syndactyly, Camptodactyly, ...	OMIM:607539
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short distal phalanx of finger, Horseshoe kidney, Ventricular septal defect, Renal cyst, Metaphys...	OMIM:250410
Congenital Heart Defects, Multiple Types, 3	Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal...	OMIM:614954
Ogden Syndrome	Everted upper lip vermilion, Thick upper lip vermilion, Postnatal growth retardation, Ventricular...	OMIM:300855
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Ventricular s...	ORPHA:2256
Atypical Teratoid Rhabdoid Tumor	Apathy, Hydrocephalus	ORPHA:99966
Pelger-Huet Anomaly	Abnormality of the dentition, Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal,...	OMIM:169400
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Recurre...	ORPHA:730
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Medullary nephrocalcinosis, Genu valgum, Hyperphosphaturia, Coxa valga, Short stat...	OMIM:613312
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus	ORPHA:2182
Congenital Hydrocephalus	Optic atrophy, Ventriculomegaly, Abnormal heart morphology, Sensorineural hearing impairment, Mac...	ORPHA:2185
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly...	ORPHA:2091
Cofs Syndrome	Optic atrophy, Camptodactyly of finger, Intrauterine growth retardation, Abnormality of retinal p...	ORPHA:1466
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Joint contracture of the hand, Small hypothenar eminence, Long philtrum, Mitral valve prolapse, T...	OMIM:211960
Insulin-Like Growth Factor I, Resistance To	Severe short stature, Small hand, Clinodactyly, Sandal gap, Short finger, Radial deviation of fin...	OMIM:270450
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Abnormality of...	ORPHA:2438
Carpenter Syndrome 2	Broad thumb, Carious teeth, Cutaneous finger syndactyly, Talipes equinovarus, Atrial septal defec...	OMIM:614976
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Renal agenesis, Non-midline cleft of the upper lip, Tetralogy o...	ORPHA:1335
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Anophthalmia, Sensorineura...	ORPHA:139471
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A...	ORPHA:1686
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1574
Nanophthalmos	Microphthalmia	ORPHA:35612
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Duodenal atresia, Intrauterine growth ...	OMIM:603467
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Elbow flexion contracture, Optic atrophy, Small nail, Hydrocephalus	OMIM:619470
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Postnatal growth retardation, Ventricular septal defect, Coar...	OMIM:620210
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Male urethral meatus stenosis, Clinodactyly, Overlapping toe, Overlapping fing...	ORPHA:464738
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Congenital hip dislocation, Renal malrotation, Abnormal renal collecti...	OMIM:113650
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Ventricular septal defect, Atrial s...	OMIM:620663
C Syndrome	Hip dislocation, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Ulnar deviation of fin...	OMIM:211750
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Broad first metatarsal...	ORPHA:2751
Cenani-Lenz Syndactyly Syndrome	Metacarpal synostosis, Renal hypoplasia, Broad hallux, Renal agenesis, Radioulnar synostosis, Hyp...	OMIM:212780
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Palmoplantar keratoderma, Multiple muscular ventricular septal defects, Eosinophilic infiltration...	OMIM:615508
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Intrauterine growth retardation, Aplasia/Hypoplasia of the thumb, Hypopla...	ORPHA:1352
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis, Genu valgum, Ventricular septal defect, Orofacial cleft...	OMIM:615630
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial...	OMIM:613870
Thoraco-Abdominal Enteric Duplication	Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Abnormal tricuspid valve morp...	ORPHA:1759
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Absent thumb, Submucous cleft hard palate, Atrial septal defect, Pulmonic stenosis	OMIM:619239
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Microspherophakia, Brachydactyly, Short stature, Pulmonic stenosis	OMIM:614819
3Q29 Microduplication Syndrome	Abnormality of the dentition, Toe syndactyly, Sandal gap, Aniridia, Ventricular septal defect, Ca...	ORPHA:251038
Microphthalmia, Syndromic 3	Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Ventricular septal defect, Short...	OMIM:206900
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Recurrent otitis media, Situs inversus totalis, Ventricular septal defect, Dextr...	OMIM:616037
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Abnormal heart morphology, Postnatal gro...	ORPHA:531151
Vacterl/Vater Association	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the urethra, Finge...	ORPHA:887
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Aminopterin/Methotrexate Embryofetopathy	Finger syndactyly, Micromelia, Tetralogy of Fallot, Intrauterine growth retardation, Situs invers...	ORPHA:1908
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Umbilical hernia, Pre...	ORPHA:380
Focal Dermal Hypoplasia	Low-set ears, Toe syndactyly, Chorioretinal coloboma, Supernumerary nipple, Absent toenail, Anoph...	OMIM:305600
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Mitral valve prolapse, Low posterior hairline, Short 4th metacarpal, Cubitus valgus,...	ORPHA:2183
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Ciliary Dyskinesia, Primary, 16	Pulmonary insufficiency, Situs inversus totalis, Chronic otitis media, Absent outer dynein arms	OMIM:614017
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Cleft palate	ORPHA:217
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve, Atrial septal defect	OMIM:224700
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epi...	ORPHA:157
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Mitral valve prolapse, Abnormal morphology of ulna, Abnormal metacarpal morphology, Short stature...	ORPHA:2233
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,...	OMIM:274000
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Cleft upper lip, Widely spaced teeth, Thick vermilion border, Tented upper lip vermil...	OMIM:612530
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic atrophy, Ventriculomegaly, Hypertrophic cardiomyopathy, Lethargy, Left ventricular hypertro...	OMIM:618228
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Clinodactyly, Accessory oral frenulum, Patent foramen ovale, Brachyda...	ORPHA:88630
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Talipes equinovarus, Micropenis, Everted lower ...	ORPHA:261494
Wolcott-Rallison Syndrome	Chronic kidney disease, Renal insufficiency, Double outlet right ventricle, Atrial septal defect,...	ORPHA:1667
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Slender finger, Bifid uvula, Small hypothenar eminence, Cutaneous syndactyly...	ORPHA:2872
Zechi-Ceide Syndrome	Short distal phalanx of finger, Cleft lip, Sandal gap, Downturned corners of mouth, Abnormal hear...	ORPHA:217017
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial ...	OMIM:249270
Basel-Vanagaite-Smirin-Yosef Syndrome	Furrowed tongue, Tented upper lip vermilion, Single transverse palmar crease, Ventricular septal ...	OMIM:616449
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter, Pulmonic stenosis	OMIM:264140
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Hand clenching, High, narrow palate, Cleft lip, Camptodactyly of finger,...	OMIM:616920
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Open mouth, Irregular dentition, Talipes equinovarus, Small thenar eminence, Mic...	OMIM:619148
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Camptodactyly of finger, Duodenal stenosis, Abnormality of the upper urinary tract, ...	ORPHA:2547
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Unilateral microphthalmos, Mitral valve prolapse, Bilateral cleft palate, Thin upp...	OMIM:618874
Woods Syndrome	Limited elbow extension, Single transverse palmar crease, Ventricular septal defect, Thin vermili...	OMIM:615236
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Ventricular septal defect, Abnormal...	ORPHA:251014
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Fibular bowing, Talipes equinovarus, Bowed forearm bones,...	OMIM:612651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cardiomyopathy, Hydrocephalus, Microphthalmia, Abnormal left ventricular function, Facial palsy, ...	OMIM:613155
Lissencephaly 8	Optic atrophy, Ventriculomegaly, Occipital encephalocele, Talipes equinovarus, Microphthalmia	OMIM:617255
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Cleft upper lip, Bowing of the long bones, Renal cyst, Microphthalmia...	OMIM:611561
Cerebrocostomandibular Syndrome	Carious teeth, Postnatal growth retardation, Cleft soft palate, Ventricular septal defect, Short ...	OMIM:117650
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent foramen ovale, Proportionate short stature, Ventricular septal defect, Atrial septal defec...	OMIM:617044
Ciliary Dyskinesia, Primary, 18	Recurrent otitis media, Abdominal situs ambiguus, Situs inversus totalis, Absent inner dynein arm...	OMIM:614874
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Bilateral single transverse palmar creases, Microdontia, Subvalvular ...	ORPHA:3191
Spondylo-Ocular Syndrome	Long philtrum, Ventricular septal defect, Disproportionate short-trunk short stature, Aplasia/Hyp...	ORPHA:85194
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cleft lip, Downturned corners of mouth, Long philtrum, Abnormal heart morphology, Overlapping toe...	OMIM:618571
Warburg Micro Syndrome 1	Low-set ears, Optic atrophy, Facial hypertrichosis, Enlarged sylvian cistern, Hypertrichosis, Ove...	OMIM:600118
Holoprosencephaly	Chorioretinal coloboma, Abnormal antihelix morphology, Encephalocele, Anophthalmia, Ventricular s...	ORPHA:2162
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Long philtrum, Genu valgum, Arachn...	OMIM:619721
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Clinodactyly of the 3rd toe, Downturned corners of mouth, Oligodactyly, Intrauterine growth retar...	ORPHA:521308
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Postnatal growth retardation, Ventricular septal defect, Abnormal metacarpal morpho...	OMIM:268300
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Growth delay, Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal d...	OMIM:600460
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Holoprosencephaly 11	Holoprosencephaly	OMIM:614226
Hypertelorism, Microtia, Facial Clefting Syndrome	Short 5th finger, Tessier cleft, Cleft upper lip, Abnormal heart morphology, Narrow mouth, 2-3 to...	OMIM:239800
Lessel-Kreienkamp Syndrome	Dental malocclusion, Open mouth, Patent foramen ovale, Thin upper lip vermilion, Bicuspid aortic ...	OMIM:619149
Preaxial Hallucal Polydactyly	Preaxial foot polydactyly, Preaxial hand polydactyly	OMIM:601759
3Q29 Microdeletion Syndrome	Abnormality of the dentition, Dental crowding, Horseshoe kidney, Short philtrum, Orofacial cleft,...	ORPHA:65286
Noonan Syndrome 12	Tetralogy of Fallot, Proximal placement of thumb, Anteriorly placed anus, Ventricular septal defect	OMIM:618624
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he...	OMIM:618433
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Clinodactyly, Bilateral microphthalmos, Downturned corners of mouth, Abnormal heart morphology, W...	ORPHA:369891
Charge Syndrome	Abnormal tibia morphology, Postnatal growth retardation, Narrow mouth, Anophthalmia, Microphthalm...	ORPHA:138
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Abnormal heart morphology, Abnormal aortic valve morphology, Hand p...	ORPHA:261197
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Clinodactyly, Vesicoureteral reflux, Patent foramen ovale, Ventri...	OMIM:614261
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Cleft lip, Contracture of the proximal interphalangeal joint of the 3rd finger, Double outlet rig...	OMIM:618223
Joubert Syndrome 22	Renal hypoplasia, Postaxial foot polydactyly, Intrauterine growth retardation, 2-3 toe syndactyly...	OMIM:615665
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Urogenital sinus anomaly, Ventricular sept...	OMIM:618901
Trisomy 4P	Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Radial club hand, Preaxial ...	ORPHA:1738
Nabais Sa-De Vries Syndrome, Type 2	Hypoplastic left heart, Multicystic kidney dysplasia, Bilateral cleft palate, Bilateral cleft lip...	OMIM:618829
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Clinodactyly, Intrauterine growth retardation, Vesicoureteral reflux, Tented up...	OMIM:618460
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Talipes equinovarus, Ventricular septal defect	OMIM:209770
Diets-Jongmans Syndrome	Wide mouth, Heterotaxy, Ventricular septal defect, Thin upper lip vermilion, Interrupted inferior...	OMIM:618846
Microcephaly-Microcornea Syndrome, Seemanova Type	Narrow mouth, Microphthalmia, Short stature, High palate, Growth delay	ORPHA:2528
Severe Canavan Disease	Optic atrophy, Lethargy, Elevated urine N-acetylaspartic acid level	ORPHA:314911
Ciliary Dyskinesia, Primary, 15	Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Nasal polypos...	OMIM:613808
Cone-Rod Dystrophy 16	Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Postaxial polydactyly, Beaten bron...	OMIM:614500
Acrorenal-Mandibular Syndrome	Narrow palate, Hypoplastic scapulae, Toe syndactyly, Renal agenesis, Rudimentary fibula, Aplasia ...	OMIM:200980
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Talipes equinovar...	OMIM:609945
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Open bite, Ventricular septal de...	ORPHA:2092
Ciliary Dyskinesia, Primary, 9	Recurrent otitis media, Situs inversus totalis, Chronic otitis media, Absent outer dynein arms	OMIM:612444
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent ear helix, Large earlobe, Long eyelashes, Thick eyebrow, Anophthalmia, Low anterior hai...	ORPHA:411986
Adams-Oliver Syndrome 2	Low-set ears, Optic atrophy, Alopecia, Small nail, Lateral ventricle dilatation, Absent distal ph...	OMIM:614219
Methimazole Embryofetopathy	Intrauterine growth retardation, Abnormal aortic morphology, Ventricular septal defect, Coarctati...	ORPHA:1923
Joubert Syndrome 16	Nephronophthisis, Encephalocele, Polydactyly, Renal cyst, Dandy-Walker malformation, Retinal dyst...	OMIM:614465
Combined Oxidative Phosphorylation Deficiency 2	Low-set ears, Neonatal death, Mild fetal ventriculomegaly, Lethargy, Brachydactyly	OMIM:610498
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Narrow mouth, Microphthalmia, Short stature, Mild short stature, Optic ne...	OMIM:614833
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Slender finger, Broad thumb, Downturned corners of mouth, Diastema, Patent foramen ovale, Ventric...	ORPHA:329224
Beaulieu-Boycott-Innes Syndrome	Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Recu...	OMIM:613680
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Increased CSF lactate, Talipes equinovarus, Lethargy	OMIM:613710
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Temtamy Syndrome	Short toe, Thick lower lip vermilion, Abnormal palate morphology, Aortic aneurysm, Brachydactyly,...	ORPHA:1777
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Hearing impairment, Situs inversus totalis, Otitis media, Dextrocardia, Absent i...	OMIM:606763
Syndactyly-Polydactyly-Earlobe Syndrome	Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple...	OMIM:186350
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas...	OMIM:251270
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Cleft upper lip, Foot oligodactyly, Ventricular septal defect, Bilateral cleft pal...	OMIM:601357
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Micromelia, Long philtrum, Monkey wrench femoral neck, Genu valgu...	OMIM:618870
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Say Syndrome	Short distal phalanx of finger, Ulnar deviation of the 3rd finger, Proximal renal tubular acidosi...	OMIM:181180
Cornelia De Lange Syndrome 1	Ventricular septal defect, Dislocated radial head, High palate, Ectopic kidney, Hypospadias, High...	OMIM:122470
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Ventricular septal defect, Everted lower lip vermilion, Microph...	OMIM:608670
Boudin-Mortier Syndrome	Aortic root aneurysm, Clinodactyly, Pseudoepiphysis of the 1st metacarpal, Long hallux, Mallet fi...	OMIM:619543
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hypertension, Hydrocephalus	OMIM:166990
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Protruding tongue, Ven...	OMIM:612938
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Volvulus, Abnormal heart morphology,...	OMIM:301111
Fried Syndrome	Hydrocephalus, Abnormal optic nerve morphology, Hearing impairment, Macrotia	ORPHA:85335
Sifrim-Hitz-Weiss Syndrome	Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Renal insufficiency, Vesicoureteral ref...	OMIM:617159
Short Stature-Micrognathia Syndrome	Rhizomelia, Broad femoral neck, Intrauterine growth retardation, Ventricular septal defect, 2-3 t...	OMIM:617164
Branchial Arch Syndrome, X-Linked	Short stature, High, narrow palate, High palate, Pulmonic stenosis	OMIM:301950
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Short stature, Wide...	OMIM:615279
Neonatal Marfan Syndrome	High, narrow palate, Abnormal cardiac ventricle morphology, Aortic root aneurysm, Mitral valve pr...	ORPHA:284979
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Optic atrophy, Depression, Genu valgum, Hydrocephalus, Calcium oxalate nephrolithiasis	OMIM:248000
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Broad hallux, Anteriorly placed anus, Preaxial polydactyly, Hamartoma of ...	OMIM:615948
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Rere-Related Neurodevelopmental Syndrome	Abnormal heart morphology, Postnatal growth retardation, Intrauterine growth retardation, Vesicou...	ORPHA:494344
Congenital Muscular Dystrophy, Fukuyama Type	Optic atrophy, Ventriculomegaly, Dilated cardiomyopathy, Camptodactyly of finger, Intrauterine gr...	ORPHA:272
Stromme Syndrome	Low-set ears, Retinal vascular tortuosity, Bilateral renal hypoplasia, Preaxial polydactyly, Hydr...	OMIM:243605
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Long philtrum, Thick lower lip vermilion, Abnormal pulmonary valve morphology, Thin upper lip ver...	ORPHA:137634
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Hypoplasia of the iris, Ventricular septal defect, Hydronep...	OMIM:613001
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Filippi Syndrome	Severe short stature, Finger syndactyly, Intrauterine growth retardation, Bilateral single transv...	ORPHA:3255
Jansen-De Vries Syndrome	Small hand, Ventricular septal defect, Thin upper lip vermilion, Bicuspid aortic valve, Brachydac...	OMIM:617450
20P12.3 Microdeletion Syndrome	Broad thumb, Long philtrum, Narrow mouth, Atrial septal defect, Short stature, Broad hallux phalanx	ORPHA:261295
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Abnormal...	ORPHA:261183
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Median cleft palate, Microphthalmia	ORPHA:2432
Hypotonia, Infantile, With Psychomotor Retardation	Open mouth, Ventricular septal defect	OMIM:616816
Solitary Median Maxillary Central Incisor	Holoprosencephaly, Anophthalmia, Microphthalmia	OMIM:147250
Aase-Smith Syndrome I	Slender finger, Open mouth, Ventricular septal defect, Talipes equinovarus, Cleft palate	OMIM:147800
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Seizures-Scoliosis-Macrocephaly Syndrome	Long philtrum, Overlapping toe, Atrial septal defect, Abnormality of the kidney	ORPHA:466926
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Hearing impairment, Clinodactyly, Postnatal growth retardation, Intrauterine gr...	ORPHA:2169
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis, Dicarboxylic aciduria	ORPHA:79159
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, Proportionate short stature, Ventricular septal defect, High palate, Cleft palate	OMIM:609654
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Renal hypoplasia/aplasia, Ventricular septal defect, Ectopic anus, ...	ORPHA:2345
Microphthalmia, Isolated 5	Foveoschisis, Cystoid macular edema, Optic disc drusen, Bone spicule pigmentation of the retina, ...	OMIM:611040
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Long philtrum, Postnatal growth retardation, Intrauterine growth re...	OMIM:257300
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Downturned corners of mouth, Intestinal malrotation, Ventricular septal defect, Hydronephrosis, T...	ORPHA:457193
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Intrauterine growth reta...	OMIM:617056
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Narrow mouth, Patent foramen ovale, Mitral valve prolapse, Arachn...	OMIM:615539
Ciliary Dyskinesia, Primary, 11	Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia	OMIM:612649
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Absent inner dynein arms, Coiled sperm flagella	OMIM:620356
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot, Abnormality of the dentition, Hypospadias, Abnormality of the philtrum	ORPHA:276422
Hypothyroidism, Congenital, Nongoitrous, 7	Short stature, Lethargy, Growth delay	OMIM:618573
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Coarctation of aorta, Short stature, Pulmonic stenosis	OMIM:616559
Fanconi Anemia, Complementation Group B	Bilateral radial aplasia, Absent thumb, Renal agenesis, Optic disc hypoplasia, Duodenal atresia, ...	OMIM:300514
Mosaic Trisomy 16	Short forearm, Meckel diverticulum, Clinodactyly, Short femoral neck, Short thumb, Abnormal heart...	ORPHA:1708
Ciliary Dyskinesia, Primary, 6	Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology	OMIM:610852
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Intrauterine growth...	ORPHA:2876
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Abnormality of the dentition, Long philtrum, Ventricular septal defect, Smooth philtrum, Atrial s...	ORPHA:261190
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Multicystic kidney dysplasia, Carious teeth, Abnormal palate morpho...	ORPHA:3270
Gómez-López-Hernández Syndrome	Low-set ears, Toenail dysplasia, Alopecia of scalp, Hydrocephalus, Short stature	ORPHA:1532
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Aortic root aneurysm, Sandal gap, Downturned corners of mouth, Dental crowding, In...	OMIM:617602
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Abnormality of the dentition, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Downturn...	OMIM:615398
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ...	OMIM:615067
ERI1-related disease	Velopharyngeal insufficiency, Abnormal heart morphology, Slender metacarpals, Oligodactyly, Clino...	OMIM:608739
Chromosome 5Q12 Deletion Syndrome	Long philtrum, Postnatal growth retardation, Patent foramen ovale, Ventricular septal defect, Lon...	OMIM:615668
Marfan Syndrome	Increased axial length of the globe, Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly,...	OMIM:154700
Idiopathic Uveal Effusion Syndrome	Increased CSF protein concentration, Subretinal fluid, Exudative retinal detachment, Microphthalm...	ORPHA:209956
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Cleft palate, Cleft upper lip, Microphthalmia	OMIM:120433
Contractural Arachnodactyly, Congenital	Ulnar deviation of finger, Aortic root aneurysm, Elbow flexion contracture, Limited elbow extensi...	OMIM:121050
3Mc Syndrome 3	Tessier cleft, Growth delay, Clinodactyly, Cleft upper lip, Preaxial polydactyly, Horseshoe kidne...	OMIM:248340
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Crossed fus...	ORPHA:3097
Left Ventricular Noncompaction 1	Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop...	OMIM:604169
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Postnatal growth retardation, Intrauterine growth reta...	OMIM:619184
Klippel-Trénaunay Syndrome	Upper limb asymmetry, Abnormal tricuspid valve morphology, Venous insufficiency, Hematuria, Atria...	ORPHA:90308
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Thin vermilion border, Abn...	ORPHA:2701
Periventricular Nodular Heterotopia 7	1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental c...	OMIM:617201
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Abnormal respiratory motile cilium morphology	OMIM:215520
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Recurrent otitis media, Situs inversus totalis, Dextrocardia, Absent inner and o...	OMIM:615444
Facial Clefting, Oblique, 1	Cleft upper lip, Tessier number 4 facial cleft, Deep palmar crease, Microphthalmia, Cleft palate	OMIM:600251
Thanatophoric Dysplasia Type 2	Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:93274
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Pierpont Syndrome	Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Excessive wrinkling of pa...	ORPHA:487825
Diencephalic Syndrome	Optic atrophy, Long penis, Hydrocephalus, Large hands, Macrotia	ORPHA:1672
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Hydroureter, Abnormal epiphys...	ORPHA:1458
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Renal hypoplasia, Bifid uvula, Vesicoureteral refl...	OMIM:617660
Ververi-Brady Syndrome	Intrauterine growth retardation, Wide mouth, Thin upper lip vermilion, Smooth philtrum, Transposi...	OMIM:617982
Chromosome 15Q25 Deletion Syndrome	Growth delay, Cleft upper lip, Coronary artery fistula, Intrauterine growth retardation, Tented u...	OMIM:614294
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Dental crowding, Synostosis involving the 1st metacarpal, Widely spaced teet...	ORPHA:466791
German Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Open mouth, Orofacial cleft, Everted lower lip verm...	ORPHA:2077
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te...	OMIM:618067
Thanatophoric Dysplasia	Abnormal ilium morphology, Disproportionate short-limb short stature, Micromelia, Intrauterine gr...	ORPHA:2655
Congenital Myopathy 11	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale	OMIM:619967
Recombinant 8 Syndrome	Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Camptodactyly of fing...	ORPHA:96167
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Nephrocalcinosis, Hip dislocation, Intrauterine growth retardation, Limb undergrowth, Atrial sept...	OMIM:618005
Thauvin-Robinet-Faivre Syndrome	Bifid ureter, Long hallux, Thick vermilion border, Mitral valve prolapse, Ventricular septal defe...	OMIM:617107
Megalencephaly	Genu valgum, Long penis, Atrial septal defect	ORPHA:2477
Mandibulofacial Dysostosis, Guion-Almeida Type	Slender finger, Preaxial hand polydactyly, Ventricular septal defect, Deep philtrum, Esophageal a...	OMIM:610536
Timothy Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Thin upper li...	OMIM:601005
Monosomy 18P	Holoprosencephaly, Microphthalmia	ORPHA:1598
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Abnormally large globe, Ventricular septal defect, Postaxial polydactyly, Atrial septal defect, V...	OMIM:603387
Diprosopus	Cleft palate, Non-midline cleft of the upper lip, Abnormal cardiac septum morphology	ORPHA:1681
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Mycophenolate Mofetil Embryopathy	Tessier cleft, Ventricular septal defect, Coarctation of aorta, Orofacial cleft, Tracheoesophagea...	ORPHA:268249
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Occipital encephalocele, Hydrocephalus	ORPHA:352682
Triploidy	Meningocele, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia affecting the eye	ORPHA:3376
Matthew-Wood Syndrome	Renal hypoplasia, Duodenal stenosis, Horseshoe kidney, Intrauterine growth retardation, Vesicoure...	ORPHA:2470
Marfanoid Habitus With Situs Inversus	Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Arachnodactyly, Persistent l...	OMIM:609008
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Small hand, Toe syndactyly, Ventricular septal defect, Limited elbow movement, Bicuspid aortic va...	OMIM:610759
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Unilateral cleft lip, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter,...	OMIM:616897
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Short foot, Patent ductus arteriosu...	OMIM:269860
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Holoprosencephaly	ORPHA:2570
Craniofacial Dyssynostosis With Short Stature	Horseshoe kidney, Ventricular septal defect, Short stature, Hypospadias, Patent ductus arteriosus...	OMIM:218350
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Aortic Valve Disease 3	Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi...	OMIM:618496
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus	OMIM:618709
Aortic Aneurysm, Familial Thoracic 9	Mitral valve prolapse, Arachnodactyly, Aortic tortuosity, Ascending aortic dissection, Thoracic a...	OMIM:616166
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft palate, Cleft upper lip, Ventricular septal defect	OMIM:214300
Skraban-Deardorff Syndrome	Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, Right aortic arch, Ventricula...	OMIM:617616
Chromosome 9P Deletion Syndrome	Dermatoglyphic variants, Narrow mouth, Ventricular septal defect, Atrial septal defect, High pala...	OMIM:158170
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Hyperechoge...	OMIM:614576
Masa Syndrome	Ventriculomegaly, Talipes equinovarus, Hydrocephalus, Adducted thumb, Short stature	OMIM:303350
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Internally rotated shoulders, Cleft soft palate, Narrow mouth, Hip contracture, Ventricular septa...	OMIM:619503
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Broad thumb, Toe syndactyly, Long philtrum, Overlapping toe, Intrauterine growth retardation, Ven...	ORPHA:505237
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Chorioretinal coloboma, Preaxial polydactyly	ORPHA:2921
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Ventricula...	OMIM:616277
Chudley-Mccullough Syndrome	Ventriculomegaly, Severe sensorineural hearing impairment, Hydrocephalus	OMIM:604213
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra...	ORPHA:2255
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Atrial septal defect, High palate, Short distal phalanx...	OMIM:620662
Congenital Sialidosis Type 2	Low-set ears, Optic atrophy, Hearing impairment, Abnormal EKG, Umbilical hernia, Cherry red spot ...	ORPHA:93400
Cousin Syndrome	Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti...	OMIM:260660
Genitopatellar Syndrome	Hypoplastic ilia, Multicystic kidney dysplasia, Delayed eruption of teeth, Long philtrum, Patella...	ORPHA:85201
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Secundum atrial septal defect, Aortic root aneurysm, Clinodactyly of the 5th fi...	OMIM:619910
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Toe syndactyly, Valvular pulmonary stenosis, Bicuspid aortic valve, Atrial septal defect, Bilater...	OMIM:300707
Hyperparathyroidism 2 With Jaw Tumors	Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren...	OMIM:145001
Glut1 Deficiency Syndrome 1	Paroxysmal lethargy, Lethargy, Hypoglycorrhachia	OMIM:606777
Adams-Oliver Syndrome	Short distal phalanx of finger, Arteriovenous malformation, Finger syndactyly, Tetralogy of Fallo...	ORPHA:974
Campomelia, Cumming Type	Bowing of the long bones, Pancreatic cysts, Polycystic kidney dysplasia, Short stature	OMIM:211890
Meckel Syndrome, Type 10	Bifid uvula, Postaxial foot polydactyly, Postaxial polydactyly, Renal cyst, Camptodactyly, Ulnar ...	OMIM:614175
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Hypertrophi...	ORPHA:1842
Potocki-Lupski Syndrome	Dental malocclusion, Dental crowding, Patent foramen ovale, Abnormal renal morphology, Smooth phi...	OMIM:610883
Martsolf Syndrome 1	Tooth malposition, Broad femoral neck, Short toe, Cardiomyopathy, Slender ulna, Long philtrum, Av...	OMIM:212720
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Long philtrum, Intestinal malrotation, Narrow mouth, Mitral valve prolapse, Hydronephrosis, Tricu...	OMIM:601776
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Nephrocalcinosis, Thick lower lip vermilion, Thick upper lip vermilion, Open mouth, Atrial septal...	OMIM:611087
Cardiospondylocarpofacial Syndrome	Severe short stature, High, narrow palate, Tooth malposition, Synostosis of carpal bones, Failure...	ORPHA:3238
Al-Raqad Syndrome	Sandal gap, Narrow mouth, Thin upper lip vermilion, Brachydactyly, Atrial septal defect	OMIM:616459
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Open mouth, Narrow mouth, Microdo...	OMIM:619356
Townes-Brocks Syndrome	Toe syndactyly, Broad thumb, Atrial septal defect, Abnormality of the kidney, Microphthalmia, Rec...	ORPHA:857
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Broad thumb, Long philtrum, Overlapping toe, Intrauterine growth retardation, Ventricular septal ...	OMIM:617452
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Downturned corners of mouth, Abnormal heart morphology, Atrioventricular canal defec...	ORPHA:453499
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Renal hypoplasia, Cleft lip, Microphallus, Vesicoureteral reflux, P...	OMIM:618454
Trisomy 18	Narrow mouth, Bilateral single transverse palmar creases, Ventricular septal defect, Atrial septa...	ORPHA:3380
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Clinodactyly, Open mouth, Patent foramen ovale, Talipes equinovarus, Transposition of the great a...	OMIM:616789
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Situs inversus totalis, Absent outer dynein arms	OMIM:615500
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Long philtrum, Atrioventricular canal defect, Thin upper lip vermilion, Short philtrum, Coarctati...	OMIM:618929
Coffin-Siris Syndrome 6	High, narrow palate, Clinodactyly, Deep philtrum, Brachydactyly, Atrial septal defect, Short stat...	OMIM:617808
Lujan-Fryns Syndrome	Abnormality of the dentition, Dental crowding, Camptodactyly of finger, Arachnodactyly, Short phi...	ORPHA:776
Knobloch Syndrome	Macular degeneration, Occipital encephalocele, Vitreoretinopathy, Abnormal hair morphology, Bifid...	ORPHA:1571
Mitochondrial Complex I Deficiency, Nuclear Type 5	Increased CSF lactate, Optic atrophy, Lethargy, Growth delay	OMIM:618226
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Situs inversus totalis, Dextrocardia	ORPHA:66630
Biemond Syndrome Ii	Short stature, Hydrocephalus, Preaxial hand polydactyly	OMIM:210350
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Ventricular septal defect, Brachydactyly, Short statur...	OMIM:619995
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Abnormal heart morphology, Narrow mouth, Joint contracture of the ...	ORPHA:352490
Gabriele-De Vries Syndrome	Abnormality of the dentition, Sandal gap, Thick lower lip vermilion, Intrauterine growth retardat...	ORPHA:506358
Edinburgh Malformation Syndrome	Low-set ears, Slender finger, Ulnar deviation of finger, Hirsutism, Low posterior hairline, Gener...	ORPHA:1895
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, Cleft lip, Duodenal atresia, Furrowed tongue, Intrauterine growth retardat...	OMIM:616975
Transaldolase Deficiency	Biventricular hypertrophy, Coarctation of aorta, Atrial septal defect, Abnormality of the kidney	ORPHA:101028
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus, Optic atrophy, Short stature, Hydrocephalus	OMIM:618174
Chromosome 1P36 Deletion Syndrome, Distal	Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hig...	OMIM:607872
Lowry-Maclean Syndrome	High, narrow palate, Talon cusp, Growth delay, Downturned corners of mouth, Atrioventricular cana...	ORPHA:2409
Sarcosinemia	Hypertrophic cardiomyopathy, Hypersarcosinuria, Pulmonic stenosis	ORPHA:3129
Coffin-Siris Syndrome 7	Downturned corners of mouth, Thick lower lip vermilion, Patent foramen ovale, Ventricular septal ...	OMIM:618027
Seckel Syndrome 2	Microglossia, Growth delay, Microdontia, Ectopic kidney, Microphthalmia, Short stature, Clinodact...	OMIM:606744
Microphthalmia, Isolated 8	Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ...	OMIM:615113
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Arrhythmia, Lethargy	OMIM:602390
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor...	ORPHA:75566
Wrinkly Skin Syndrome	Congenital hip dislocation, Carious teeth, Slender long bone, Delayed eruption of teeth, Long phi...	OMIM:278250
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Mitral stenosis, Renal cyst, Coarctation of aorta, Talipes equinovarus, Smooth p...	OMIM:617260
Craniofacioskeletal Syndrome	Interrupted aortic arch, Small hand, Intrauterine growth retardation, Ventricular septal defect, ...	OMIM:300712
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Renal hypoplasia, Camptodactyly of finger, Abnormality of the wri...	ORPHA:3138
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Cleft upper lip, Tetralogy of Fall...	OMIM:100300
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Acromesomelia, Abnormal heart morphology, Open mouth, Patent foramen ovale, Ven...	ORPHA:500159
Buratti-Harel Syndrome	Bifid uvula, Broad thumb, Dilation of Virchow-Robin spaces, Broad hallux, Velopharyngeal insuffic...	OMIM:619314
Zaki Syndrome	Broad distal phalanx of finger, Toe syndactyly, Renal agenesis, Ectrodactyly, Median pseudocleft ...	OMIM:619648
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic...	ORPHA:2248
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Apl...	ORPHA:84
Fryns Syndrome	Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Microphthalmia, A...	OMIM:229850
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Ventricular septal d...	ORPHA:818
Microphthalmia With Linear Skin Defects Syndrome	Hearing impairment, Abnormal earlobe morphology, Mitral regurgitation, Anophthalmia, Mitral valve...	ORPHA:2556
Johnson Neuroectodermal Syndrome	Severe short stature, Carious teeth, Preaxial hand polydactyly, Tetralogy of Fallot, Hand polydac...	ORPHA:2316
Schuurs-Hoeijmakers Syndrome	Downturned corners of mouth, Volvulus, Diastema, Patent foramen ovale, Thin upper lip vermilion, ...	OMIM:615009
Delpire-Mcneill Syndrome	Tracheoesophageal fistula, Hip dislocation, Ventricular septal defect	OMIM:619083
Isolated Atp Synthase Deficiency	Optic atrophy, Renal hypoplasia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, 3-Methylglu...	ORPHA:254913
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Rod-cone dystrophy	OMIM:615984
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Noonan Syndrome With Multiple Lentigines	Growth delay, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Intrauterine growth ret...	ORPHA:500
Congenital Fibrinogen Deficiency	Gingival bleeding, Volvulus, Hemorrhagic ovarian cyst, Left ventricular hypertrophy, Microphthalm...	ORPHA:335
Lethal Congenital Contracture Syndrome 10	Narrow palate, Long philtrum, Overlapping fingers, Femoral bowing, Intrauterine growth retardatio...	OMIM:617022
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Postnatal growth retardation, Intrauterine growth retardation, Clinodactyly of the 5th finger, Pa...	OMIM:620113
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Intrauterine growth retardation, Ventricular septal defect, Short h...	ORPHA:1393
Tarp Syndrome	Finger syndactyly, Clinodactyly, Talipes equinovarus, Atrial septal defect, Pierre-Robin sequence...	ORPHA:2886
Steinfeld Syndrome	Bifid uvula, Unilateral renal dysplasia, Abnormal heart morphology, Median cleft palate, Median c...	OMIM:184705
Developmental And Epileptic Encephalopathy 40	Lethargy, Intrauterine growth retardation	OMIM:617065
Central Neurocytoma	Depression, Abnormal lateral ventricle morphology, Tinnitus, Lethargy, Hydrocephalus	ORPHA:73256
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Peripheral pulmonary artery stenosis, Short thumb, Overlapping toe, Arachnod...	ORPHA:436003
Lissencephaly 5	Hydrocephalus, Optic atrophy, Occipital encephalocele, Hearing impairment	OMIM:615191
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shorten...	OMIM:300863
Marfan Syndrome	Arterial dissection, High, narrow palate, Increased axial length of the globe, Aortic root aneury...	ORPHA:558
Coffin-Lowry Syndrome	Open mouth, Abnormal mitral valve morphology, Everted lower lip vermilion, Large hands, High pala...	ORPHA:192
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Optic...	OMIM:169550
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Ventricular septal defect, Micropenis, Patent ductus arteriosus, Synda...	OMIM:616894
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N...	OMIM:235510
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Situs inversus totalis, Neurogenic bladder, Hydrocephalus, Dextrocardia, Short ...	OMIM:613686
X Small Rings	Toe syndactyly, Aortic root aneurysm, Growth delay, Long philtrum, Upper limb undergrowth, Mitral...	ORPHA:96201
Digeorge Syndrome	Interrupted aortic arch, Unilateral renal agenesis, Right aortic arch with mirror image branching...	OMIM:188400
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Uretera...	ORPHA:2257
Frontoocular Syndrome	Narrow mouth, Narrow philtrum, Atrial septal defect, High palate, Pulmonic stenosis	OMIM:605321
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Small hand, Widely spaced teeth, Bilateral single transverse palmar crease...	ORPHA:459061
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Abnormality of the dentition...	OMIM:157900
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Open mouth, Ventricular septal defect, Arachnodactyly, Talipes equinovarus,...	OMIM:301039
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Macroglossia, Multicystic kidney dysplasia, Abnormal right ventricle morphology, Abnormal femoral...	ORPHA:500095
Proboscis Lateralis	Unilateral renal agenesis, Duplication of renal pelvis, Long philtrum, Ureteral agenesis, Anophth...	ORPHA:141099
White Forelock With Malformations	Finger syndactyly, Abnormal palate morphology, Deep philtrum, Atrial septal defect, Clinodactyly ...	ORPHA:2475
Weiss-Kruszka Syndrome	Dextrotransposition of the great arteries, Single transverse palmar crease, Ventricular septal de...	OMIM:618619
Koolen-De Vries Syndrome	Aortic root aneurysm, Open mouth, Ventricular septal defect, Narrow palm, Bicuspid aortic valve, ...	OMIM:610443
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,...	OMIM:263200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Low anterior hairline, Left ventricular hypertrophy, Retinal detachment, Hydroc...	OMIM:613153
Coffin-Siris Syndrome 4	Short 5th finger, Macroglossia, Everted upper lip vermilion, Long philtrum, Thick lower lip vermi...	OMIM:614609
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Renal agenesis, Abnormal heart morphology, Horseshoe kidney, Microphth...	OMIM:227650
Fanconi Anemia, Complementation Group E	Absent thumb, Short thumb, Renal agenesis, Abnormal heart morphology, Horseshoe kidney, Microphth...	OMIM:600901
Mandibulofacial Dysostosis-Microcephaly Syndrome	Preaxial hand polydactyly, Atrial septal defect, Short stature, Cleft palate, Accessory oral fren...	ORPHA:79113
Poland Syndrome	Abnormality of the outer ear, Small hand, Finger syndactyly, Ureterocele, Encephalocele, Low post...	ORPHA:2911
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis, Tented upper lip vermilion, Open mouth, Atrial septal defect, Wide mouth	ORPHA:500533
Linear Skin Defects With Multiple Congenital Anomalies 1	Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopathy, Ventricular septal defect, ...	OMIM:309801
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Orofacial cleft, Large hands, Preaxial hand polydactyly	ORPHA:85287
Dihydrolipoamide Dehydrogenase Deficiency	Increased CSF isoleucine concentration, Hypertrophic cardiomyopathy, Increased CSF valine concent...	OMIM:246900
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Renal agenesis, Horseshoe kidney, Intrauterine growth retardation, Mic...	OMIM:227645
Ogden Syndrome	Low-set ears, Ventriculomegaly, Cardiogenic shock, Broad hallux, Fine hair, Postnatal growth reta...	ORPHA:276432
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Urinary incontinence, Atrial septal defect	OMIM:620094
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Dilated cardiomyopathy, Postnatal growth retardation, Intrauterine gro...	OMIM:610198
Al Kaissi Syndrome	High, narrow palate, Small hand, Clinodactyly, Long philtrum, Postnatal growth retardation, Intra...	OMIM:617694
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Growth delay, Finger syndactyly, In...	ORPHA:217346
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Low-set ears, Umbilical hernia, Stenosis of the external auditory canal, Hydrocephalus, Short sta...	ORPHA:1516
Oculoauriculofrontonasal Syndrome	Cleft lip, Narrow mouth, Ventricular septal defect, Broad philtrum, Cleft palate	ORPHA:398156
Dandy-Walker Malformation With Postaxial Polydactyly	Low-set ears, Aortic valve stenosis, Dilated fourth ventricle, Chorioretinal atrophy, Hydrocephal...	OMIM:220220
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dilatation of the cerebral artery, Renal cyst	OMIM:174050
Idiopathic Congenital Hypothyroidism	Abnormal epiphysis morphology, Umbilical hernia, Lethargy, Delayed proximal femoral epiphyseal os...	ORPHA:95717
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Familial Exudative Vitreoretinopathy	Macular edema, Hearing impairment, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Trac...	ORPHA:891
Down Syndrome	Narrow mouth, Bilateral single transverse palmar creases, Open mouth, Ventricular septal defect, ...	ORPHA:870
Distal Monosomy 7Q36	Holoprosencephaly	ORPHA:1636
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia	OMIM:617091
Mungan Syndrome	Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Megaduodenum, Vesicoureteral ...	OMIM:611376
Familial Nasal Acilia	Abnormal respiratory motile cilium morphology	ORPHA:922
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Growth delay, Talipes eq...	ORPHA:261311
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal...	ORPHA:166119
Neurocardiofaciodigital Syndrome	Tetralogy of Fallot, Vesicoureteral reflux, Polydactyly, Atrial septal defect, High palate, Short...	OMIM:619869
Dextrocardia	Congenital hip dislocation, Abnormality of abdominal situs, Abnormal EKG, Abnormal heart morpholo...	ORPHA:1666
Tetraamelia Syndrome 2	Ankyloglossia, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Micro...	OMIM:618021
Ring Chromosome 21 Syndrome	Holoprosencephaly	ORPHA:1445
Formiminoglutamic Aciduria	Abnormal concentration of acylcarnitine in the urine, Atrial septal defect	ORPHA:51208
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Hand muscle weakness, Sensorineural hearing impairment, Triceps weakness, Abnormal...	ORPHA:99947
Oculodentodigital Dysplasia	Broad alveolar ridges, Carious teeth, Clinodactyly, Selective tooth agenesis, Cleft upper lip, 3-...	OMIM:164200
Degcags Syndrome	Chronic kidney disease, Toe syndactyly, Genu valgum, Protruding tongue, Ventricular septal defect...	OMIM:619488
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Postnatal growth ret...	ORPHA:3472
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly	OMIM:601370
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Vesicoureteral reflux, Exaggerated cupid's bow, Ventricular septal d...	OMIM:615879
Cardiomyopathy, Dilated, 1Y	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Ebstein anomaly of the tri...	OMIM:611878
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Finger syndactyly, Sandal gap, Long philtrum, Intrauterine growth retardation, ...	ORPHA:254346
Retinitis Pigmentosa 89	Postaxial polydactyly, Bicuspid aortic valve, Esophageal varix	OMIM:618955
Renpenning Syndrome 1	Renal hypoplasia, Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb ...	OMIM:309500
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ...	OMIM:143095
Geleophysic Dysplasia 2	Aortic valve stenosis, Cone-shaped epiphysis, Long philtrum, Mitral stenosis, Mitral valve prolap...	OMIM:614185
Distal Duplication 5Q	Carious teeth, Absent thumb, Long philtrum, Narrow mouth, Ventricular septal defect, Short statur...	ORPHA:96097
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Camptodactyly of finger, Horseshoe kidney, Long phil...	DECIPHER:81
19P13.3 Microduplication Syndrome	Clinodactyly, Intrauterine growth retardation, Thick vermilion border, Narrow mouth, Ventricular ...	ORPHA:447980
Curry-Jones Syndrome	Ventriculomegaly, Broad thumb, Toe syndactyly, Finger syndactyly, Optic disc coloboma, Preaxial h...	ORPHA:1553
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Tooth malposition, Microspherophakia, Broad phalanges of the hand, Abnorma...	OMIM:277600
Mitral Valve Prolapse 1	High, narrow palate, High palate, Mitral valve prolapse	OMIM:157700
Cardiac Valvular Dysplasia, X-Linked	Short chordae tendineae of the mitral valve, Mitral valve prolapse, Bicuspid aortic valve, Thick ...	OMIM:314400
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Abnormal heart morphology, Absent cupid's bow, Ventricular septal defect...	ORPHA:284169
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet...	ORPHA:2847
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormal localization of kidney, Tetralogy of Fallot, Renal hypoplasia/aplasia, Median cleft uppe...	ORPHA:3186
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Brachydactyly, Microphthalmia, Short stature, Syndactyly	OMIM:610023
Microphthalmia, Syndromic 5	Anophthalmia, Microphthalmia, Micropenis, Short stature, Cleft palate, Optic nerve hypoplasia	OMIM:610125
Atelis Syndrome 1	Carious teeth, Long philtrum, Ventricular septal defect, Atrial septal defect, High palate	OMIM:620184
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Abnormality of the uret...	ORPHA:1225
Apert Syndrome	Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta...	OMIM:101200
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Sandal gap, Long philtrum, Thick vermilion border, Single transverse palmar crea...	OMIM:617061
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Postnatal growth retardation, Genu valgum, Narrow mouth, Ventr...	OMIM:616145
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Camptodactyly of finger, Cutaneous finger syndactyly, Tented upper li...	ORPHA:896
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Duodenal atresia, Intrauterine growth retardation, Stomach cancer, ...	ORPHA:1052
Intellectual Developmental Disorder, Autosomal Dominant 48	Intrauterine growth retardation, Open mouth, Ventricular septal defect, Bicuspid aortic valve, Hy...	OMIM:617751
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Dilated fourth ventricl...	ORPHA:370959
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Long philtrum, Ventricular septal defect, Postaxial polydactyly, Br...	OMIM:617895
Chromosome 6Pter-P24 Deletion Syndrome	Dental crowding, Cleft upper lip, Tetralogy of Fallot, Abnormal dental morphology, Narrow mouth, ...	OMIM:612582
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Joint contracture of the hand, Natal tooth, Fibular aplasia, Ventri...	OMIM:300373
Thakker-Donnai Syndrome	Downturned corners of mouth, Tetralogy of Fallot, Intrauterine growth retardation, Narrow mouth, ...	ORPHA:1780
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Ventriculomegaly, Medial flaring of the eyebrow, Hearing impairment, Intrauterine ...	OMIM:619833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Retinal detachment, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
14Q22Q23 Microdeletion Syndrome	Renal hypoplasia, Toe syndactyly, Cupped ear, Atresia of the external auditory canal, Hearing imp...	ORPHA:264200
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Patent foramen ovale, Ventricular septal defect, Single transverse palmar crease...	OMIM:613884
Hydrolethalus Syndrome 2	Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial...	OMIM:614120
Lissencephaly Syndrome, Norman-Roberts Type	Intrauterine growth retardation, Patent foramen ovale, Adducted thumb, Atrial septal defect, Rock...	ORPHA:89844
Osteoporosis-Pseudoglioma Syndrome	Exudative vitreoretinopathy, Abnormal lower limb bone morphology, Abnormal vitreous humor morphol...	ORPHA:2788
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok...	ORPHA:1457
Intellectual Developmental Disorder, X-Linked, Syndromic 35	2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Dilation of Virchow-Robin spaces, Con...	OMIM:300998
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Left ventricular...	OMIM:615355
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Hypospadias, Unilateral renal agenesis, Toe syndactyly, Acromesomelia, Duo...	ORPHA:464306
Intellectual Developmental Disorder, Autosomal Recessive 47	Mitral valve prolapse	OMIM:616193
Fraser Syndrome 1	Tessier cleft, Renal hypoplasia, Dental malocclusion, Dental crowding, Bilateral microphthalmos, ...	OMIM:219000
Ring Chromosome 10 Syndrome	Sandal gap, Long philtrum, Intrauterine growth retardation, Renal hypoplasia/aplasia, Aganglionic...	ORPHA:1438
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Conductive hearing impairment, Situs inversus totalis, Communicating hydrocephal...	OMIM:244400
Phace Association	Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br...	OMIM:606519
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Attenuation of retinal blood vessels, Renal insufficiency, Polydactyl...	OMIM:615986
Joubert Syndrome 7	Nephronophthisis, Genu valgum, Stage 5 chronic kidney disease, Encephalocele, Postaxial polydacty...	OMIM:611560
Arima Syndrome	Nephronophthisis, Postaxial foot polydactyly, Growth delay, Stage 5 chronic kidney disease, Wide ...	OMIM:243910
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Microphthalmia, Syndromic 8	Cleft upper lip, Orofacial cleft, Cleft palate, Microphthalmia, Widely-spaced maxillary central i...	OMIM:601349
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypop...	ORPHA:163966
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Intellectual Developmental Disorder, Autosomal Dominant 47	Intrauterine growth retardation, Wide mouth, Widely-spaced incisors, Ventricular septal defect	OMIM:617635
Myhre Syndrome	Aortic valve stenosis, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Narrow mouth, Ventr...	OMIM:139210
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Aplasia of the 1st metacarpal, Absent thumb, Short thumb, Renal age...	OMIM:227646
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Bohring-Opitz Syndrome	Overlapping toe, Narrow mouth, Ventricular septal defect, Bilateral cleft palate, Atrial septal d...	OMIM:605039
17Q23.1Q23.2 Microdeletion Syndrome	Shallow acetabular fossae, Abnormal epiphysis morphology, Sandal gap, Patellar hypoplasia, Widely...	ORPHA:261279
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Abnormally large globe, Pancreatic lymphangiectasis, Postnatal growth...	ORPHA:1655
Chromosome 10Q26 Deletion Syndrome	2-3 toe cutaneous syndactyly, Congenital hip dislocation, Toe syndactyly, Prominent fingertip pad...	OMIM:609625
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial septal defect, Pate...	OMIM:601927
Developmental And Epileptic Encephalopathy 90	Fetal pyelectasis, Atrial septal defect	OMIM:301058
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst, Epiphyseal stippling	OMIM:614870
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Anal stenosis, Broad hallux, Vesicoureteral reflux, Tented ...	OMIM:614749
Distal Deletion 3P	Downturned corners of mouth, Long philtrum, Atrioventricular canal defect, Intrauterine growth re...	ORPHA:1620
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hypoplastic ilia, Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossificati...	OMIM:613330
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Retinal dysplasia, Microphthalmia	OMIM:615771
Microphthalmia, Syndromic 1	Tooth malposition, Joint contracture of the hand, Clinodactyly, Anophthalmia, Renal hypoplasia/ap...	OMIM:309800
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Long philtrum, Intrauterine growth retardation, Abnormal mitral valve morphology, Brachydactyly, ...	ORPHA:1292
Noonan Syndrome 4	Dental malocclusion, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cubi...	OMIM:610733
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, La...	ORPHA:363705
Holoprosencephaly 14	Cleft lip, Ventricular septal defect, Median cleft upper lip, Double outlet right ventricle, Aort...	OMIM:619895
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Cleft upper lip, Tetralogy of Fallot, Genu valgum, ...	OMIM:164210
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Cleft lip, Renal agenesis, Intrauterine growth retardation, Ventricula...	OMIM:611812
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Renal hypoplasia, Absent thumb, Short thumb, Cleft upper lip, Intrauterine grow...	OMIM:105650
Joubert Syndrome 20	Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly	OMIM:614970
Poland Syndrome	Hypoplasia of deltoid muscle, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Sy...	OMIM:173800
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Congestive...	ORPHA:137675
Rhyns Syndrome	Hypoplastic ilia, Multicystic kidney dysplasia, Nephronophthisis, Small epiphyses, Abnormal aceta...	ORPHA:140976
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Genu valgum, Cleft soft ...	OMIM:619472
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Small hand, Hip dislocation, Abnormality of the dentition, Renal dysplasia, Long phi...	OMIM:300968
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral va...	OMIM:305620
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele	OMIM:213010
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly	OMIM:615433
Isolated Polycystic Liver Disease	Multiple renal cysts, Vascular dilatation	ORPHA:2924
Pallister-Hall-Like Syndrome	Postaxial foot polydactyly, Toe syndactyly, Occipital encephalocele, Micromelia, Hydrocephalus, P...	OMIM:241800
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Cockayne Syndrome Type 2	Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of the primary teeth, An...	ORPHA:90322
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Increased carrying angle, Renal insufficiency, Mitral valve prolapse, Brachydactyly,...	OMIM:247410
Nephronophthisis 15	Retinal degeneration, Nephronophthisis, Polydactyly	OMIM:614845
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Long philtrum, Intrauterine growth retardation, Thin upper lip vermilion, Renal cyst, Hiatus hern...	OMIM:610199
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Atrioventricular canal defect, Horseshoe kidney, Aplasia of the epiglottis...	OMIM:617088
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Growth delay, Atrial septal defect	OMIM:620211
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Nar...	OMIM:620072
Mucopolysaccharidosis, Type Ii	Severe short stature, Hearing impairment, Umbilical hernia, Recurrent otitis media, Congestive he...	OMIM:309900
Fg Syndrome Type 1	Finger syndactyly, Clinodactyly of the 2nd finger, Open mouth, Mitral valve prolapse, Atrial sept...	ORPHA:93932
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Duodenal atresia, Intestinal malrotation, Situs inversus totalis, Partial atrioventricular canal ...	OMIM:619608
Lethal Infantile Mitochondrial Myopathy	Lethargy, Renal insufficiency, Cardiomyopathy	ORPHA:254857
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Low-set ears, Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Retinal pigment e...	OMIM:617102
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Aortic root aneurysm, Genu valgum, Narrow mouth, Mitral valve prolapse, Bicu...	OMIM:245600
Chronic Atrial And Intestinal Dysrhythmia	Bicuspid aortic valve, Left atrial enlargement, Intestinal pseudo-obstruction, Pulmonic stenosis	OMIM:616201
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Hypospadias, Unilateral renal agenesis, Short toe, Duodenal atresia, Intra...	ORPHA:464311
Leukoencephalopathy With Vanishing White Matter 1	Optic atrophy, Lethargy	OMIM:603896
Metachondromatosis	Bowing of the long bones, Pulmonic stenosis	OMIM:156250
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ventriculomegaly, Finger joint contracture, Intrauterine growth retardation, Abnormality of perip...	ORPHA:48431
Congenital Varicella Syndrome	Intrauterine growth retardation, Micromelia, Microphthalmia	ORPHA:291
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a...	OMIM:610168
Incontinentia Pigmenti	Finger syndactyly, Supernumerary nipple, Abnormal hair morphology, Abnormal hand morphology, Abno...	ORPHA:464
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, Wide pubi...	OMIM:620073
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Short humerus, Sensorineural hearing impairment, Patent fora...	OMIM:607143
Noonan Syndrome 13	Duplicated collecting system, Clinodactyly, Long philtrum, Widely spaced teeth, Overlapping toe, ...	OMIM:619087
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Recurrent otitis media, Postnatal growth retardation, Cone/cone-rod dystrophy, Microphthalmia, Hy...	OMIM:608940
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Bifid uvula, Secundum atrial septal defect, Growth delay, Downturned corners of mouth, Long philt...	OMIM:619121
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Rectovaginal fistula, Delayed eruption of teeth, At...	OMIM:600373
Mass Syndrome	Ascending aortic dissection, Arachnodactyly, Aortic aneurysm, Mitral valve prolapse	OMIM:604308
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy, Hypoglycorrhachia	ORPHA:71277
Glycine Encephalopathy 1	Hyperglycinuria, Lethargy	OMIM:605899
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Ventricular septal defect, Hematuria, Proteinuria, Short stature, Tubulointerstitial...	OMIM:616901
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Dental crowding, Oligosacchariduria, Clinodactyly, Long philtrum, Talipes equinovarus, Broad phil...	ORPHA:397709
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Secundum atrial septal defect, Dilation of Virchow-Robin spaces, Sanda...	OMIM:619951
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy	ORPHA:79283
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Optic atrophy, Ventriculomegaly, Toe syndactyly, Finger syndactyly, Cerebral ischemia, Arrhythmia...	ORPHA:60040
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal localization of kidney, Intestinal malrotation, Narrow mouth, Renal hypoplasia/aplasia, ...	ORPHA:2166
Meningococcal Meningitis	Increased CSF protein concentration, Hypotension, Hearing impairment, Hypoglycorrhachia, Shock, R...	ORPHA:33475
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Aplasia/Hypoplasia affecting the eye, Diaphyseal undertubul...	ORPHA:175
Idiopathic Intracranial Hypertension	Depression, Vertigo, Lethargy, Papilledema, Pulsatile tinnitus	ORPHA:238624
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Low-set ears, Broad proximal phalanges of the hand, Bilateral microphthalmos, Abnormal hair morph...	OMIM:607597
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Abnormal retinal morphology, Preaxial polydactyly	OMIM:614615
Temtamy Syndrome	Low-set ears, Aortic regurgitation, Highly arched eyebrow, Ventriculomegaly, Chorioretinal colobo...	OMIM:218340
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Tetralogy of Fallot, Ventricular septal defect, Varicose veins, Microphthalmia, ...	OMIM:153400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Ventricular sep...	OMIM:613404
Johanson-Blizzard Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Intrauterine gro...	ORPHA:2315
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Renal insufficiency, Renal tubular dysfunction, Lethargy, Growth delay	ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Lethargy, Renal insufficiency, Cardiomyopathy	ORPHA:79312
Transaldolase Deficiency	Intrauterine growth retardation, Patent foramen ovale, Ventricular septal defect, Coarctation of ...	OMIM:606003
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Low-set ears, Hypospadias, Abnormal penis morphology, Broad thumb, Finger syndactyly, Preaxial ha...	ORPHA:2211
20P13 Microdeletion Syndrome	Low-set ears, Hypoplastic helices, Highly arched eyebrow, Finger syndactyly, Clinodactyly, Small ...	ORPHA:313781
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
6P22 Microdeletion Syndrome	Low-set ears, Finger syndactyly, Hearing impairment, Clinodactyly, Hydronephrosis, Hydrocephalus,...	ORPHA:251046
2,4-Dienoyl-Coa Reductase Deficiency	Optic atrophy, Hyperlysinuria, Ventriculomegaly, Increased CSF lactate, Intrauterine growth retar...	OMIM:616034
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Vesicoureteral reflux, Ventricular septal defect, Severe postnatal gr...	ORPHA:3078
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia, Hydrocephalus, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Zellweger Syndrome	Multicystic kidney dysplasia, Epiphyseal stippling, Ventricular septal defect, Hydronephrosis, Sh...	ORPHA:912
Refsum Disease	Abnormal epiphysis morphology, Cardiomyopathy, Renal insufficiency, Microphthalmia, Short metacar...	ORPHA:773
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Taurodontia, Perimembranous ventricular septal defect, Enamel hypoplasia, At...	OMIM:618205
Stickler Syndrome Type 1	Abnormal epiphysis morphology, Long philtrum, Abnormal vertebral epiphysis morphology, Mitral val...	ORPHA:90653
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Postnatal growth retardation, Narrow mouth, Ventricular septal defect, T...	ORPHA:251028
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Severe short stature, Optic atrophy, Abnormal optic nerve morphology, Abnormal hair morphology, L...	ORPHA:2526
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Nephrocalcinosis, Restrictive cardiomyopathy, Abnormality of the urinary sys...	ORPHA:369837
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Hemiatrophy of upper limb, Oligosacchariduria, Downturned corners of mouth, Long ...	ORPHA:163649
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Jawad Syndrome	Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Anonychia, Single interphalangeal creas...	OMIM:251255
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Lethargy, Bradykinesia	OMIM:618683
Pontocerebellar Hypoplasia, Type 17	Intrauterine growth retardation, Secundum atrial septal defect, Patent ductus arteriosus, Ventric...	OMIM:619909
Jacobsen Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hall...	ORPHA:2308
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren...	OMIM:208085
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Femoral bowing, Bowing of the lo...	ORPHA:1860
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, Median cleft upper lip, Short stature, High palate, Cleft palate, Synda...	OMIM:300484
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Ventricular septal defect, Atrial septal defect, Dup...	OMIM:270400
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Upper lip pit, Renal agenesis, Preaxial hand polydactyly, Tooth age...	ORPHA:1297
Doors Syndrome	Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal ...	ORPHA:79500
3Mc Syndrome 1	Short 5th finger, Cleft lip, Caudal appendage, Dental crowding, Cleft upper lip, Postnatal growth...	OMIM:257920
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Broad thumb, Toe syndactyly, Dilation of Virchow-Robin spaces, Downturned corners of mouth, Long ...	OMIM:619720
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, High palate, Accessory oral frenulum, Syndactyly, Preaxial hand polyd...	OMIM:252100
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,...	OMIM:602088
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Dental Anomalies And Short Stature	Widely spaced teeth, Mitral valve prolapse, Oligodontia, Microdontia, Amelogenesis imperfecta, Sh...	OMIM:601216
Wiedemann-Steiner Syndrome	Short 5th finger, Small hand, Short toe, Long philtrum, Short middle phalanx of finger, Long hall...	OMIM:605130
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Chorioretinal coloboma, Sensorineural hearing impairment, Hematuria, Retinal detac...	ORPHA:1473
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Ventricular sept...	OMIM:107480
Mend Syndrome	Aortic valve stenosis, Asymmetry of the mouth, Broad hallux, Abnormal heart morphology, Overlappi...	ORPHA:401973
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect	OMIM:619881
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Ventricular septal d...	OMIM:154400
Distal Deletion 10Q	Clinodactyly, Postnatal growth retardation, Atrial septal defect, Anal atresia, High palate, Hip ...	ORPHA:96148
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Oculodentodigital Dysplasia	Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Ventricular septal defect, Short ...	ORPHA:2710
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set ears, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Sup...	ORPHA:397715
Diamond-Blackfan Anemia 11	Finger aplasia, Unilateral renal agenesis, Unilateral radial aplasia, Absent thumb, Bilateral cle...	OMIM:614900
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Premature graying of hair, Supernumerary nipple, Postnatal grow...	OMIM:113620
Tuberous Sclerosis Complex	Chronic kidney disease, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal insufficiency,...	ORPHA:805
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy...	OMIM:231680
Microphthalmia, Syndromic 13	Short stature, Anteverted ears, Chorioretinal coloboma, Microphthalmia	OMIM:300915
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal ...	OMIM:614922
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Lethargy, Growth delay	OMIM:613561
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Long philtrum, Thick lower lip vermilion, Tented upper lip vermilion, Single transverse palmar cr...	OMIM:620075
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Ventricular septa...	OMIM:256520
Joubert Syndrome With Oculorenal Defect	Nephropathy, Highly arched eyebrow, Chorioretinal coloboma, Low-set, posteriorly rotated ears, Re...	ORPHA:2318
Diamond-Blackfan Anemia 5	Short stature, Hypospadias, Ventricular septal defect	OMIM:612528
Edinburgh Malformation Syndrome	Frontal hirsutism, Hydrocephalus	OMIM:129850
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short distal phalanx of finger, Abnormally large globe, Short toe, Downturned corners of mouth, C...	OMIM:239300
Noonan Syndrome 2	Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hi...	OMIM:605275
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Lethargy, Increased CSF glyci...	OMIM:614299
Autosomal Recessive Dopa-Responsive Dystonia	Talipes equinovarus, Bradykinesia, Lethargy, Decreased CSF homovanillic acid concentration	ORPHA:101150
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Hearing impairment, Postnatal growth retardation, Renal in...	ORPHA:90321
Alagille Syndrome	Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormality of the ureter, ...	ORPHA:52
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty...	ORPHA:65759
Costello Syndrome	Abnormality of the dentition, Ulnar deviation of finger, Thick lower lip vermilion, Hypertrophic ...	ORPHA:3071
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Delayed eruption of teeth, Abnormal heart morphology, Thick upper ...	OMIM:247200
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Campomelia, Cumming Type	Multicystic kidney dysplasia, Clubbing of toes, Micromelia, Bowing of the long bones, Abnormal in...	ORPHA:1318
Joubert Syndrome 2	Low-set ears, Postaxial foot polydactyly, Nephronophthisis, Enlarged fossa interpeduncularis, Opt...	OMIM:608091
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Cone/cone-rod dystrophy, Bowing of the long bones, Microphthalmia, Short metacar...	ORPHA:85167
Epidermal Nevus Syndrome	Aortic aneurysm, Polycystic kidney dysplasia, Weakness of long finger extensor muscles	ORPHA:35125
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Ciliary Dyskinesia, Primary, 44	Heterotaxy	OMIM:618781
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Tibial torsion, Camptodactyly of finger, Elbow flexion contracture, Joint contractu...	OMIM:602782
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect, Intrauterine growth retardation, Cleft soft palate, Thin upper lip...	OMIM:620183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Low-set ears, Ventriculomegaly, Encephalocele, Retinal detachment, Adducted thumb, Remnants of th...	OMIM:614643
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Short 5th finger, Toe clinodactyly, Bulbous tips of toes, Ventricular se...	ORPHA:163979
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Low-set ears, Renal hypoplasia, Toe syndactyly, Umbilical hernia, Bowing of the long bones, Radio...	ORPHA:171839
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic root aneurysm, Sandal gap, Dental crowding, Abnormal heart valve morphology, Recurrent sho...	ORPHA:230851
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis	ORPHA:638
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Downturned corners of mouth, Tetralogy of Fallot, Conotruncal defect, Rena...	ORPHA:96147
Holoprosencephaly 9	Alobar holoprosencephaly, Prominent antihelix, Underdeveloped tragus, Occipital meningocele, Anop...	OMIM:610829
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Cranioectodermal Dysplasia 2	Clinodactyly, Atrial septal defect, Everted lower lip vermilion, High palate, Patent ductus arter...	OMIM:613610
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Dental malocclusion, Clinodactyly, Downturned corners of mouth, Long p...	OMIM:616737
Albers-Schönberg Osteopetrosis	Optic atrophy, Short distal phalanx of finger, Abnormal epiphysis morphology, Hearing impairment,...	ORPHA:53
Joubert Syndrome 21	Optic atrophy, Occipital encephalocele, Encephalocele, Megalopapilla, Sensorineural hearing impai...	OMIM:615636
Giant Cell Arteritis	Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal...	ORPHA:397
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Ureteral agenesis, Single transverse palmar crease, 2-3 toe syndactyly, Renal c...	OMIM:236500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hydrocephalus, Holoprosencephaly, Encephalocele, Microphthalmia	OMIM:253800
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Optic atrophy, Pigmentary retinopathy, Dilated cardiomyopathy, Pulmonary embolism, ...	ORPHA:79282
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Hypoplasia of teeth, Growth delay, Ventricular septal defect	OMIM:234050
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Patent foramen ovale, Hydronephrosis, Atrial septal defect, Pate...	OMIM:620327
Rhombencephalosynapsis	Ventriculomegaly, Finger syndactyly, Low-set, posteriorly rotated ears, Polydactyly, Aganglionic ...	ORPHA:59315
Congenital Gerbode Defect	Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent...	ORPHA:99095
Trisomy 10P	Short toe, Abnormal lip morphology, Thumb contracture, Abnormal heart morphology, Abnormal hip jo...	ORPHA:171929
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect	OMIM:126320
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, C...	OMIM:616564
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Clinodactyly, Intrauterine growth retardation, Narrow mouth, Single transverse palmar...	OMIM:614114
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Nephrocalcinosis, Long penis, Dental crowding, Cardiomyopathy, Furr...	ORPHA:769
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Secundum atrial septal defect, Oligodactyly, Median pseudocleft lip, Wide mouth...	OMIM:619758
Teebi Hypertelorism Syndrome 1	Small hand, Aortic root aneurysm, Natal tooth, Long philtrum, Dental crowding, Ventricular septal...	OMIM:145420
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Growth delay, Abnormality of primary teeth, Narrow mouth, Gingivitis, Arac...	ORPHA:75496
Long-Olsen-Distelmaier Syndrome	Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defe...	OMIM:620609
Leopard Syndrome 3	Tetralogy of Fallot, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Cubitus ...	OMIM:613707
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Finger syndactyly, Open bite, Foot polydactyly, High palate, Tarsal...	ORPHA:2750
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Velopharyngeal insufficiency, Long philtrum, Tetralogy of Fallot, Intestinal malrotation, Single ...	OMIM:614701
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Sparse eyebrow, Hearing impairment, Ventricul...	OMIM:302960
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microphthalmia	OMIM:618805
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy, Polydactyly, Abnormality of the hand, Micropenis, ...	OMIM:245800
Joubert Syndrome 3	Stage 5 chronic kidney disease, Open mouth, Atrial septal defect, Nephronophthisis	OMIM:608629
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Proxi...	OMIM:616202
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Ventricular septal defect, Talipes equinovarus, 2-...	OMIM:312870
Marcus-Gunn Syndrome	Cleft lip, Abnormal heart morphology, Postnatal growth retardation, Nephrolithiasis, Cleft palate	ORPHA:91412
Curry-Jones Syndrome	High anterior hairline, Broad thumb, Ventriculomegaly, Preaxial hand polydactyly, 3-4 toe syndact...	OMIM:601707
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Okamoto Syndrome	Aortic valve stenosis, Exaggerated median tongue furrow, Open bite, Open mouth, Abnormal mitral v...	ORPHA:2729
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th finger, Short statur...	OMIM:620141
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Small hand, Finger syndactyly, Downturned corners o...	ORPHA:1001
Supravalvular Aortic Stenosis	Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic stenosis	OMIM:185500
Seckel Syndrome 9	Pulmonary artery hypoplasia, Recurrent urinary tract infections, Intrauterine growth retardation,...	OMIM:616777
Opitz Gbbb Syndrome	Growth delay, Unilateral cleft lip, Cleft upper lip, Rectourethral fistula, Vesicoureteral reflux...	OMIM:300000
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Multiple Sulfatase Deficiency	Optic atrophy, Broad thumb, Coarse hair, Thick eyebrow, Abnormality of peripheral nerve conductio...	ORPHA:585
Alazami Syndrome	Slender long bone, Widely spaced teeth, Postnatal growth retardation, Atrial septal defect, Thick...	ORPHA:319671
Thoracoabdominal Syndrome	Renal agenesis, Cleft upper lip, Transposition of the great arteries, Ectopia cordis, Hypospadias...	OMIM:313850
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metacarpal, Long philtru...	OMIM:620568
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Intrauterine growth retardation, Ventricular septal defect, Hematuria, Overriding aorta, Patent d...	OMIM:617021
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Small hypothenar eminence, Abnormality of the urinary system, Long philtrum,...	ORPHA:96092
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Prominent fingertip pads, Mitral valve prolapse, Arachnodactyly, Short philtrum, Atrial septal de...	OMIM:300986
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Cardiomyopathy, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, G...	ORPHA:445038
Rhizomelic Chondrodysplasia Punctata, Type 2	Abnormal pelvic girdle bone morphology, Rhizomelia, Disproportionate short stature, Tetralogy of ...	OMIM:222765
Bardet-Biedl Syndrome 22	Macular hypopigmentation, Postaxial foot polydactyly, Rod-cone dystrophy, Polydactyly	OMIM:617119
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Bicuspid aortic valve, Abnormality of retinal pigmentation	ORPHA:397951
Biotinidase Deficiency	Optic atrophy, Alopecia, Myelopathy, Hearing impairment, Organic aciduria, Sensorineural hearing ...	ORPHA:79241
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Pancreatic lymphangiectasis, Ventricular septal defect, Thyroid lymph...	OMIM:235255
Infantile Sialic Acid Storage Disease	Fair hair, Congestive heart failure, Cardiomegaly, Hydrocephalus, Nephrotic syndrome, Metaphyseal...	OMIM:269920
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Disproportionate short-trunk short stature,...	ORPHA:457395
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Low-set ears, Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Talipes equinovarus, Leth...	OMIM:277380
Shashi-Pena Syndrome	Unilateral renal agenesis, Dilation of Virchow-Robin spaces, Intrauterine growth retardation, Thi...	OMIM:617190
Loeys-Dietz Syndrome 5	Aortic root aneurysm, Cleft soft palate, Ventricular septal defect, Arachnodactyly, Talipes equin...	OMIM:615582
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Smooth philtrum, Contracture of the proximal interphalangeal joint...	OMIM:618109
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie...	OMIM:192430
Cooper-Jabs Syndrome	Anteriorly placed anus, Camptodactyly of finger, Abnormal hip bone morphology, Ventricular septal...	ORPHA:1488
Ectopia Lentis 1, Isolated, Autosomal Dominant	Microspherophakia, Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, High palate	OMIM:129600
Intellectual Disability-Strabismus Syndrome	Abnormality of the dentition, Joint contracture of the hand, Medullary nephrocalcinosis, Intraute...	ORPHA:363528
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Single transverse palmar crease, Abnormal medullary pyramid morp...	ORPHA:79243
Aortic Valve Disease 2	Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C...	OMIM:614823
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Broad thumb, Dental crowding, Hyperextensibility of the finger joints, Open mouth, Ventricular se...	OMIM:309520
Multiple Benign Circumferential Skin Creases On Limbs	Umbilical hernia, Low-set, posteriorly rotated ears, Congestive heart failure, Retinopathy, Gener...	ORPHA:2505
Toriello-Carey Syndrome	Clinodactyly, Cardiomyopathy, Anteriorly placed anus, Tetralogy of Fallot, Postnatal growth retar...	ORPHA:3338
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Glue ear, Bilateral single transve...	ORPHA:3310
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Cyclic Vomiting Syndrome	Lethargy, Growth delay, Hearing impairment, Cardiomyopathy	OMIM:500007
Keutel Syndrome	Short stature, Pulmonary artery stenosis, Short distal phalanx of finger, Ventricular septal defect	ORPHA:85202
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hypopigmentation of the fundus, Decreased nerve conduction velocity, Chorioretinal atrophy, Letha...	OMIM:238970
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Lethargy, Renal insufficiency, Cardiomyopathy	ORPHA:27
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Ventricular septal defect, Hiatus hernia, Atrial s...	OMIM:619769
Kleeblattschaedel	Elbow ankylosis, Hydrocephalus	OMIM:148800
Distal Duplication 17Q	Severe short stature, Rhizomelia, Abnormal heart morphology, Overlapping toe, Genu valgum, Vesico...	ORPHA:3379
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, Ventricular septal defect,...	OMIM:608328
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Nail dysplasia, Genu valgum, Short stature	OMIM:618123
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Severe short stature, Joint contracture of the hand, Neonatal short-limb short stature, Micromeli...	OMIM:224400
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor...	ORPHA:99050
Koolen-De Vries Syndrome	High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Vesicourete...	ORPHA:96169
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, Long philtrum, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyl...	OMIM:615877
Metatropic Dysplasia	Severe short stature, Coarse metaphyseal trabecularization, Micromelia, Camptodactyly of finger, ...	ORPHA:2635
Feingold Syndrome 1	Interrupted aortic arch, Short toe, Short thumb, Duodenal atresia, Short middle phalanx of finger...	OMIM:164280
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Ov...	ORPHA:672
Diamond-Blackfan Anemia 12	Triphalangeal thumb, Ventricular septal defect	OMIM:615550
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Retinal ...	OMIM:614105
Meckel Syndrome, Type 9	Talipes equinovarus, Multicystic kidney dysplasia, Limb undergrowth	OMIM:614209
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Clinodactyly, Downturned corners of mouth, Thick upper lip vermilion, Intrauterine growth retarda...	OMIM:617360
Frontometaphyseal Dysplasia 2	Broad thumb, Hip contracture, Bicuspid aortic valve, Talipes equinovarus, High palate, Dislocated...	OMIM:617137
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Disproportionate short stature, Abnormal epiphysis morphology, Abnormal cerebral vascular morphol...	ORPHA:2637
Joubert Syndrome 37	Hydronephrosis, Postaxial polydactyly, Microphthalmia, Micropenis, High palate, Short stature	OMIM:619185
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Hypoplasia of penis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Postnatal growth retardation, Polydactyly, Protruding ear, Short stature, Clinodactyly of the 5th...	ORPHA:231140
Hypomandibular Faciocranial Dysostosis	Aglossia, Patent ductus arteriosus, Atrial septal defect, Pursed lips	OMIM:241310
Geleophysic Dysplasia 1	Aortic valve stenosis, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpals wi...	OMIM:231050
16P13.11 Microdeletion Syndrome	Cleft upper lip, Camptodactyly of finger, Metatarsus valgus, Exaggerated cupid's bow, Ventricular...	ORPHA:261236
7Q31 Microdeletion Syndrome	Enuresis nocturna, Galactosuria, Clinodactyly of the 2nd finger, Prominent fingertip pads, Long p...	ORPHA:251061
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Chops Syndrome	High, narrow palate, Downturned corners of mouth, Long philtrum, Horseshoe kidney, Vesicoureteral...	OMIM:616368
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Growth delay, Clinodactyly, Radial deviation of finger, Renal agenesis, Widely-spaced maxillary c...	OMIM:301040
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Intestinal pseudo-obstruction, L...	ORPHA:73246
Silver-Russell Syndrome Due To A Point Mutation	Low-set ears, Short 5th finger, Ectrodactyly, Microphallus, Small placenta, Hypoplastic fingernai...	ORPHA:397590
Dyssegmental Dysplasia, Silverman-Handmaker Type	Low-set ears, Hypoplastic ilia, Severe short stature, Micromelia, Broad long bones, Clubbing of f...	ORPHA:1865
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hydrocephalus, M...	OMIM:610828
Mucopolysaccharidosis Type 1	Optic atrophy, Abnormal epiphysis morphology, Hearing impairment, Congestive heart failure, Hyper...	ORPHA:579
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Short thumb, Microphthalmia	OMIM:609054
Cardiomyopathy, Dilated, 2J	Dilated cardiomyopathy, Secundum atrial septal defect	OMIM:620635
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Methylmalonic aciduria, Abnormal heart morphology, Intrauterine growth...	ORPHA:79284
Familial Thyroid Dyshormonogenesis	Abnormal epiphysis morphology, Umbilical hernia, Sensorineural hearing impairment, Lethargy, Dela...	ORPHA:95716
Neurodevelopmental Disorder With Language Delay And Seizures	Growth delay, Ventricular septal defect	OMIM:619908
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, V...	ORPHA:49
Microtia	Holoprosencephaly	ORPHA:83463
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Long eyelashes, Cardiomegaly, Lethargy, Pulmonary arterial hypertension, Synophrys	OMIM:619064
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased CSF lactate, Ventriculomegaly, Lethargy	OMIM:312170
Hajdu-Cheney Syndrome	Aortic valve stenosis, Periodontitis, Open bite, Narrow mouth, Ventricular septal defect, Bowing ...	ORPHA:955
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Atrial septal defect, Postaxial hand polydactyly, Micropenis, Patent d...	ORPHA:2519
Hurler Syndrome	Abnormal nerve conduction velocity, Depression, Abnormal epiphysis morphology, Hearing impairment...	ORPHA:93473
Dysosteosclerosis	Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnormal dental enamel morpholog...	ORPHA:1782
Tetraploidy	Radial club hand, Intrauterine growth retardation, Renal hypoplasia/aplasia, Hydronephrosis, Shor...	ORPHA:3305
Diaphanospondylodysostosis	Narrow pelvis bone, Multiple renal cysts, Cleft palate	ORPHA:66637
Noonan Syndrome 5	Hypertrophic cardiomyopathy, Cubitus valgus, Atrial septal defect, Thick vermilion border, Short ...	OMIM:611553
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Talipes equinovarus, Microphthalmia, Absent radius,...	OMIM:263650
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Conductive hearing impairment, Abnormal metacarpal morphology, Hydrocephalus, Brac...	ORPHA:93262
Cardiofaciocutaneous Syndrome 4	Abnormal aortic valve morphology, Ventricular septal hypertrophy, Palmoplantar hyperkeratosis, Sh...	OMIM:615280
Wolf-Hirschhorn Syndrome	Arachnodactyly, Talipes equinovarus, Short hallux, Atrial septal defect, Abnormality of the kidne...	ORPHA:280
Fanconi Anemia, Complementation Group G	Growth delay, Abnormal thumb morphology, Microphthalmia	OMIM:614082
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb shortening, Tali...	ORPHA:2347
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hypertrophic cardiomyopathy, Renal insufficiency, Lethargy, Lacticaciduria	OMIM:619386
Holoprosencephaly-Caudal Dysgenesis Syndrome	Holoprosencephaly	ORPHA:2165
Pontocerebellar Hypoplasia, Type 6	Increased CSF lactate, Lethargy	OMIM:611523
King-Denborough Syndrome	Short stature, High palate, Deep philtrum, Ventricular septal defect	OMIM:619542
Neurooculorenal Syndrome	Unilateral renal agenesis, Highly arched eyebrow, Ventriculomegaly, Short 1st metacarpal, Tetralo...	OMIM:620305
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Nasal polyposis, Situs inversus totalis, Absent inner and outer dynein arms	OMIM:614935
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Unilateral renal agenesis, Renal hypoplasia, Aortic root aneurysm, Denta...	OMIM:620654
Jackson-Weiss Syndrome	Toe syndactyly, Preaxial foot polydactyly, Abnormal palate morphology, Symphalangism affecting th...	ORPHA:1540
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Umbilical hernia, Arachnodactyly, Adducted thumb, Hydrocephalus, Shoulder d...	ORPHA:2181
Myhre Syndrome	Abnormal penis morphology, Severe short stature, Bifid uvula, Gingival cleft, Abnormal epiphysis ...	ORPHA:2588
Beck-Fahrner Syndrome	Long philtrum, Open mouth, Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate	OMIM:618798
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Hydroureter, Vesicovaginal fistula, Mesoaxial hand polydactyly, Hydro...	OMIM:236700
Braddock-Carey Syndrome 2	Clinodactyly, Microphthalmia, Wide mouth, Cleft palate, Pierre-Robin sequence	OMIM:619981
Mitral Valve Prolapse 3	Mitral valve prolapse	OMIM:610840
Mitral Valve Prolapse 2	Mitral valve prolapse	OMIM:607829
Meckel Syndrome, Type 3	Multicystic kidney dysplasia, Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, H...	OMIM:607361
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Conotruncal defect, Protruding tongue, Single transver...	OMIM:610253
Diamond-Blackfan Anemia 10	Growth delay, Renal duplication, Ventricular septal defect, Short stature, Ectopic kidney, Patent...	OMIM:613309
Agnathia-Otocephaly Complex	Holoprosencephaly	OMIM:202650
Pyruvate Dehydrogenase Deficiency	Ventriculomegaly, Osteolytic defects of the middle phalanx of the 4th toe, Intrauterine growth re...	ORPHA:765
Ulbright-Hodes Syndrome	Postnatal growth retardation, Fibular aplasia, Narrow mouth, Humeroradial synostosis, Talipes equ...	ORPHA:3404
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased CSF lactate, Lethargy	OMIM:618225
Distal Xq28 Microduplication Syndrome	Dental crowding, Clinodactyly, Thick lower lip vermilion, Open mouth, Short lingual frenulum, Pat...	ORPHA:293939
Adams-Oliver Syndrome 5	Patent foramen ovale, Esophageal varix, Brachydactyly, Right atrial enlargement, Right ventricula...	OMIM:616028
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Low-set ears, Undetectable visual evoked potentials, Ventriculomegaly, Chorioretinal coloboma, Hy...	ORPHA:163961
Ciliary Dyskinesia, Primary, 25	Recurrent otitis media, Situs inversus totalis, Dextrocardia	OMIM:615482
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Slender finger, Homocystinuria, Methylmalonic aciduria, Lethargy, Short stature, Growth delay	OMIM:250940
Kagami-Ogata Syndrome	Long philtrum, Ventricular septal defect, Coxa valga, Limb undergrowth, Atrial septal defect, Lon...	OMIM:608149
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Atelis Syndrome 2	Clinodactyly, Downturned corners of mouth, Diastema, Thick lower lip vermilion, Single transverse...	OMIM:620185
Joubert Syndrome	Low-set ears, Highly arched eyebrow, Situs inversus totalis, Encephalocele, Aganglionic megacolon...	ORPHA:475
Galloway-Mowat Syndrome 3	Intrauterine growth retardation, Stage 5 chronic kidney disease, Narrow mouth, Proteinuria, Arach...	OMIM:617729
Krabbe Disease	Optic atrophy, Increased CSF protein concentration, Hearing impairment, Decreased nerve conductio...	OMIM:245200
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Short stature, High palate, Patent ductus arteriosus, Cleft palate	ORPHA:52055
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Jacobsen Syndrome	Intrauterine growth retardation, Ventricular septal defect, Macular hypoplasia, Brachydactyly, At...	OMIM:147791
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Renal insufficiency, Hematuria,...	OMIM:611773
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Lethargy, Syncope, Tachycardia	ORPHA:276556
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Peters Plus Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Postnatal growth retardation, Renal hypoplasia/apla...	ORPHA:709
Optic Pathway Glioma	Optic atrophy, Vertigo, Papilledema, Hydrocephalus, Growth delay	ORPHA:2086
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, P...	OMIM:258860
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino...	OMIM:605711
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph...	ORPHA:2041
Warburg Micro Syndrome 2	Optic atrophy, Undetectable visual evoked potentials, Postnatal growth retardation, Overlapping t...	OMIM:614225
Kyphoscoliotic Ehlers-Danlos Syndrome	Low-set ears, Hearing impairment, Sensorineural hearing impairment, Arachnodactyly, Talipes equin...	ORPHA:536545
Brachydactyly-Preaxial Hallux Varus Syndrome	Broad thumb, Preaxial hand polydactyly, Radial club hand, Abnormal palate morphology, Brachydacty...	ORPHA:1278
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Ventricular septal ...	ORPHA:373
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Renal hypoplasia, Small hand, Intrauterine growth retardation, Thick vermilion border, Patent for...	OMIM:620005
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Interrupted aortic arch, Abnormal aortic morphology, Tricuspid valve prola...	ORPHA:2396
Hurler Syndrome	Aortic regurgitation, Hearing impairment, Cardiomyopathy, Umbilical hernia, Recurrent otitis medi...	OMIM:607014
Gabriele-De Vries Syndrome	Aortopulmonary collateral arteries, Abnormality of the dentition, Sandal gap, Thick lower lip ver...	OMIM:617557
Cerebellar-Facial-Dental Syndrome	Severe short stature, Macrodontia of permanent maxillary central incisor, Infancy onset short-tru...	ORPHA:444072
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Retinitis Pigmentosa 51	Macular degeneration, Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentatio...	OMIM:613464
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Renal hypoplasia, Tricuspid regurgitation, Postaxial polydactyly, Brachyd...	OMIM:600151
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Developmental Delay With Variable Neurologic And Brain Abnormalities	Widely spaced teeth, Microdontia, Down-sloping shoulders, Cubitus valgus, Microphthalmia, Camptod...	OMIM:619694
Noonan Syndrome 7	Hypertrophic cardiomyopathy, Cubitus valgus, Deep palmar crease, Abnormal esophagus morphology, A...	OMIM:613706
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Small hand, Elbow dislocation, Bilateral single tra...	ORPHA:199
Intellectual Developmental Disorder, Autosomal Dominant 70	Highly arched eyebrow, Hearing impairment, Retinal detachment, Hydrocephalus, Retinal telangiecta...	OMIM:620157
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Lethargy, Syncope, Tachycardia	ORPHA:276575
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Intrauterine growth retardation, Microphthalmia, Micropenis, Rocker bott...	OMIM:610756
Diamond-Blackfan Anemia 4	Short stature, Growth delay, Atrial septal defect	OMIM:612527
Microphthalmia, Lenz Type	Abnormality of the dentition, Hydroureter, Finger syndactyly, Delayed eruption of teeth, Camptoda...	ORPHA:568
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Broad thumb, Secundum atrial septal defect, Clinodactyly, Long hallux, Hallux valgus, High palate	OMIM:620194
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart failure, End...	OMIM:212140
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Short toe, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Adva...	ORPHA:1519
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Anophthalmia, Submucous c...	ORPHA:2250
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Lethargy, Syncope, Tachycardia	ORPHA:276580
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Multicystic kidney dysplasia, Dental malocclusion, Abnorm...	ORPHA:2115
Warburg Micro Syndrome 3	Optic atrophy, Ventriculomegaly, Hypertrichosis, Postnatal growth retardation, Low anterior hairl...	OMIM:614222
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Short distal phalanx of finger, Renal insufficiency, Mitral valve prolapse, Brachyda...	ORPHA:1563
Temple Syndrome	Small hand, Postnatal growth retardation, Hydrocephalus, Short stature, Clinodactyly of the 5th f...	ORPHA:254516
Coffin-Siris Syndrome	Short 5th finger, Growth delay, Clinodactyly, Delayed eruption of teeth, Thick lower lip vermilio...	ORPHA:1465
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Low-set ears, Alopecia, Fine hair, Intrauterine growth retardation, Encephalocele, Microphthalmia	ORPHA:228390
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Hydronephrosis, ...	OMIM:602418
Septooptic Dysplasia	Optic disc hypoplasia, Short finger, Polydactyly, Short stature, Optic nerve hypoplasia	OMIM:182230
1Q41Q42 Microdeletion Syndrome	Holoprosencephaly	ORPHA:250999
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move...	ORPHA:1826
Microform Holoprosencephaly	Renal agenesis, Tetralogy of Fallot, Intrauterine growth retardation, Tented upper lip vermilion,...	ORPHA:280200
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Low-set ears, Nephropathy, Hypotension, Pigmentary retinopathy, Homocystinuria, Acute kidney inju...	OMIM:277400
Dural Sinus Malformation	Myelopathy, Subdural hemorrhage, Ear pain, Subarachnoid hemorrhage, Cerebellar hemorrhage, Papill...	ORPHA:97339
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Abnormal hair whorl, Ventriculomegaly, Broad hallux, Deviation of the ...	OMIM:616362
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Low-set ears, Conductive hearing impairment, Recurrent otitis media, Intrauterine growth retardat...	OMIM:616910
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Ventriculomegaly, Abnormal auditory evoked potentials, Rieger anomaly, Sensorineural hearing impa...	OMIM:109120
Intellectual Developmental Disorder, Autosomal Dominant 43	Gingival overgrowth, Narrow mouth, Increased overbite, Thin upper lip vermilion, Short philtrum, ...	OMIM:616977
Thyroid Dyshormonogenesis 1	Lethargy, Growth delay, Umbilical hernia	OMIM:274400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Abnormal ilium morphology, Short distal phalanx of finger, Anal stenosis, Renal dysplasia, Long p...	OMIM:614080
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Atrial septal defect	OMIM:620247
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Lethargy, Dilated cardiomyopathy, 3-Methylglutaconic aciduria	OMIM:618120
Ciliary Dyskinesia, Primary, 45	Absent inner and outer dynein arms	OMIM:618801
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Increased CSF lactate, Optic disc pallor, Lethargy	OMIM:615838
Mend Syndrome	Aortic valve stenosis, Broad hallux, Crossed fused renal ectopia, Overlapping fingers, Overlappin...	OMIM:300960
Micro Syndrome	Optic atrophy, Retinal coloboma, Low-set, posteriorly rotated ears, Intrauterine growth retardati...	ORPHA:2510
Donnai-Barrow Syndrome	Proteinuria, Intestinal malrotation, Ventricular septal defect	ORPHA:2143
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventr...	ORPHA:457279
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ventriculomegaly, Hypoplasia of the iris, Vertigo, Hydrocephalus, Nasofrontal encephalocele, Opti...	OMIM:614195
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Ventricular septal defect, B...	OMIM:271640
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Proteinuria, 2-3 toe syndactyly, Postaxial polydactyly, Atrial septal ...	OMIM:619471
Arthrogryposis, Distal, Type 12	Dental crowding, Palmar hyperhidrosis, High palate, Mitral valve prolapse, Hand muscle atrophy, T...	OMIM:620545
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Equinu...	ORPHA:746
Hyperlysinuria With Hyperammonemia	Lethargy, Hyperlysinuria, Dibasicaminoaciduria, Growth delay	OMIM:238750
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Ventriculomegaly, Hypertrophic cardiomyopathy, Increased CSF lactate, Myofiber disarray, Hypoplas...	OMIM:604377
Classical Ehlers-Danlos Syndrome	Arterial dissection, Aortic root aneurysm, Dilatation of the cerebral artery, Mitral valve prolap...	ORPHA:287
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Abnormality of the urinary system, Patent ductus arteriosus, Anomalous pulmo...	ORPHA:2184
Bartsocas-Papas Syndrome 2	Small hand, Absent distal phalanges, Bilateral cleft palate, Bilateral cleft lip, 2-5 finger cuta...	OMIM:619339
Mucopolysaccharidosis, Type Vii	Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Genu valgum, Urinary gl...	OMIM:253220
Alexander Disease	Increased CSF protein concentration, Apathy, Hydrocephalus	OMIM:203450
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Methylmalonic aciduria, Coarctation of aorta, Atrial septal defect, Growth delay,...	OMIM:614857
Aicardi-Goutieres Syndrome 4	Low-set ears, Ventriculomegaly, Intrauterine growth retardation, CSF lymphocytic pleiocytosis, Hy...	OMIM:610333
Fraser Syndrome	Abnormality of the outer ear, Toe syndactyly, Atresia of the external auditory canal, Finger synd...	ORPHA:2052
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Hydronephrosis, Coa...	OMIM:614921
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Clinodactyly, Cardiomyopathy, Downturned corners of mouth, Proximal placement of thumb, Anteriorl...	OMIM:217980
Baraitser-Winter Syndrome 2	Long philtrum, Thin upper lip vermilion, Orofacial cleft, Microphthalmia, Short stature, Wide mouth	OMIM:614583
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Irregular epiphyses, Delayed pubic bone ossification, 2...	OMIM:618162
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Retinal degeneration, Sensorineural hearing impairment, Hydrocephalus, Mi...	OMIM:615249
Trisomy 20P	Finger syndactyly, Abnormality of the ureter, Abnormal antihelix morphology, Low posterior hairli...	ORPHA:261318
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Dental crowding, Sandal gap, Downturned corners of mouth, Long ph...	OMIM:615761
Temple Syndrome	Small hand, Clinodactyly, Recurrent otitis media, Intrauterine growth retardation, Hydrocephalus,...	OMIM:616222
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Short toe, Widely spaced toes, Proportionate short stature, Deep philtrum, ...	ORPHA:404443
Legius Syndrome	Male urethral meatus stenosis, Mitral valve prolapse, Polydactyly, Nephrolithiasis, Nephroblastom...	ORPHA:137605
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Camptodactyly of toe,...	ORPHA:158687
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Delayed eruption of primary teeth, Bicuspid aortic valve, Everted l...	OMIM:616367
Achondroplasia	Rhizomelia, Hip joint hypermobility, Disproportionate short stature, Hearing impairment, Function...	ORPHA:15
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus	OMIM:619301
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Ureteral triplication, Mitral valve prolapse, Hydronephrosis, Cubitus...	OMIM:104350
Cystic Echinococcosis	Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Renal cyst, Membranous nephropathy	ORPHA:400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Bifid uvula, Small hand, Long philtrum, Postnatal growth retardation, Thin vermilion border, Thin...	OMIM:241410
Kawasaki Disease	Vasculitis, Strawberry tongue, Sterile pyuria, Double outlet right ventricle with subpulmonary ve...	ORPHA:2331
8P11.2 Deletion Syndrome	Mitral valve prolapse, Talipes equinovarus, Atrial septal defect, High palate, Short stature, Hyp...	ORPHA:251066
Cerebrofacioarticular Syndrome	Renal hypoplasia, Anal stenosis, Caudal appendage, Anteriorly placed anus, Abnormal heart morphol...	ORPHA:314679
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Horseshoe kidney, Overlapping toe, Clino...	ORPHA:221120
Larsen Syndrome	Elbow dislocation, Cleft upper lip, Accessory carpal bones, Intrauterine growth retardation, Vent...	OMIM:150250
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Dislocated radial head, Hydrocephalus, Ventriculomegaly	OMIM:304100
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Clinodactyly, Long eyelashes, Hydrocephalus, Ulnar deviation of the wrist	OMIM:618577
Fanconi Anemia, Complementation Group R	Absent thumb, Radial dysplasia, Agenesis of permanent teeth, Anal atresia, Microphthalmia, Pelvic...	OMIM:617244
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	High palate, Tooth agenesis, Cleft palate, Microphthalmia	ORPHA:1135
X-Linked Dominant Chondrodysplasia Punctata	Low-set ears, Abnormality of the nail, Sparse eyebrow, Coarse hair, Epiphyseal stippling, Sensori...	ORPHA:35173
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Pulmonic stenosis	OMIM:619433
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Unilateral renal agenesis, Disproportionate short-limb short stature, Hearing impa...	OMIM:101800
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Ventriculomegaly, Elbow flexion contracture, Second metatarsal pos...	OMIM:214150
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Genu valgum, Mitral valve prolapse, Atrial septal defec...	OMIM:615873
Floating-Harbor Syndrome	Broad thumb, Carious teeth, Atrial septal defect, Broad fingertip, Celiac disease, Dislocated rad...	OMIM:136140
Intellectual Developmental Disorder, Autosomal Recessive 68	Protruding ear, Broad eyebrow, Hydrocephalus, Synophrys	OMIM:618302
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Secundum atrial septal defect, Clinodactyly, Recurrent urinary tract infections, Hig...	OMIM:612541
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Patent ductus arteriosus after premature birth, Ventricular septal def...	OMIM:620454
Constricting Bands, Congenital	Tessier cleft, Cleft upper lip, Talipes equinovarus, Hand polydactyly, Ectopia cordis, Bladder ex...	OMIM:217100
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Lethargy	ORPHA:276608
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
1Q44 Microdeletion Syndrome	Ventriculomegaly, Optic disc hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Hydrocephalus, ...	ORPHA:238769
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormality of the calcaneus, Limited mobility of proximal interphalangeal joint, IgA deposition ...	ORPHA:85438
Intellectual Developmental Disorder, X-Linked 30	Short stature, Hydrocephalus, Prominent fingertip pads, Macrotia	OMIM:300558
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Postnatal growth retardation, Narrow mouth, Mitral valve pro...	OMIM:180849
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Microdontia, Hypodontia, Atrial septal defect, Patent ductus arteriosus	OMIM:602482
Trisomy 8P	Clinodactyly of the 2nd finger, Overlapping toe, Dysplastic aortic valve, Short 1st metacarpal, T...	ORPHA:264450
Congenital Contractural Arachnodactyly	Camptodactyly of finger, Intestinal malrotation, Mitral valve prolapse, Arachnodactyly, Aortic an...	ORPHA:115
White-Sutton Syndrome	Bifid uvula, Broad thumb, Downturned corners of mouth, Intrauterine growth retardation, Patent fo...	OMIM:616364
Distal Deletion 6P	Abnormality of the dentition, Abnormal epiphysis morphology, Downturned corners of mouth, Hypopla...	ORPHA:96125
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Biventricular hypertrophy, Patent foramen ovale, Nephrolithiasis, Ventricular septal defect, Left...	OMIM:615474
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Aplasia/Hypoplasia of the radius, Microglossia, Oligodactyly, Abnormality of th...	ORPHA:1307
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormality of the urinary system, Abnormality of the ure...	ORPHA:1834
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Narrow pelvis bone, Long philtrum, Femoral bowing, Humeroradial synostosis, Ulnar bowing, Arachno...	OMIM:207410
Ring Chromosome 12 Syndrome	High, narrow palate, Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Gla...	ORPHA:1439
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Hypertrophic cardiomyopathy, Thick v...	OMIM:617303
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom...	ORPHA:2260
Cardiofaciocutaneous Syndrome	Genu valgum, Low posterior hairline, Atrial septal defect, Brittle hair, Sparse hair, Macrotia, P...	ORPHA:1340
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Abdominal situs inversus, Situs inversus totalis, Dextrocardia	OMIM:619607
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Postnatal growth retardation, Ventricular septal defect	ORPHA:254534
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conical tooth, Cleft lip, Palmoplantar keratoderma, Selective tooth agenesis, Cleft upper lip, Wi...	OMIM:106260
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Open bite, Open mouth, Ventricul...	ORPHA:453504
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of finger, Optic disc hypoplasia, Epiphyseal stippling of toe phalanges, Pos...	ORPHA:79345
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Open bite, Open mouth, Ventricul...	ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Genu valgum, Wide mouth, Ventricular septal defect, Hydronephrosis, Micro...	OMIM:617798
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Abnormal thumb morphology, Mitral valve prolapse, Protruding tongue, Cardi...	ORPHA:324410
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Tracheal st...	ORPHA:3301
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Postnatal growth retardation, Ven...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Postnatal growth retardation, Ven...	ORPHA:353277
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Severe short stature, Bifid uvula, Camptodactyly of finger, Atrioventricular canal defect, Bilate...	ORPHA:3047
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Abnormality of the dentition, High palate, Atrial septal defect, Pulmonic stenosis	OMIM:618282
Loeys-Dietz Syndrome 1	Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Talipes equin...	OMIM:609192
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Cleft palate	OMIM:243440
Microcephaly-Micromelia Syndrome	Low-set ears, Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardatio...	OMIM:251230
Frontorhiny	Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Low-set, posteriorly rota...	ORPHA:391474
Orotic Aciduria	Oroticaciduria, Ventricular septal defect, Hematuria, Atrial septal defect, Orotic acid crystalluria	OMIM:258900
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hearing impairment, Hypoplastic iliac wing, Genu valgum, Mitral regurgitati...	OMIM:253200
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Kaposiform Lymphangiomatosis	Fractures of the long bones, Pancreatic cysts, Abnormal femur morphology, Abnormal lymphatic vess...	ORPHA:464329
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Broad thumb, Broad hallux, Hearing impairm...	OMIM:272200
Dihydropyrimidinase Deficiency	Elevated CSF dihydrouracil concentration, Elevated urinary thymine level, Elevated urinary dihydr...	OMIM:222748
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Urinary incontinence, Spina bifida occulta, Anencephaly	OMIM:182940
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Lethargy	ORPHA:324575
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Lethargy, Abnormal cardiac ventricular functio...	ORPHA:2394
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Sensorineural hearing impairment, Macula...	OMIM:615219
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Nephrocalcinosis, Broad distal phalanx of finger, Dental crowding, Delayed eruption ...	OMIM:300990
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Irregular epiphyses, Hypoplastic iliac wing, Pancreatic cysts,...	OMIM:208500
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
15Q Overgrowth Syndrome	Low-set ears, Abnormality of the outer ear, Contracture of the proximal interphalangeal joint of ...	ORPHA:314585
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Toe syndactyly, Renal agenesis, Mitral atresia, Horseshoe kidney, Renal insufficiency, Vesicouret...	ORPHA:140952
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Palmoplantar keratoderma, Cleft lip, Myofiber disarray, Patent foramen ov...	OMIM:620519
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Hydrocephalus, Macrotia, Congestive heart failure	OMIM:300886
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Holoprosencephaly	ORPHA:990
Ehlers-Danlos Syndrome, Classic-Like, 1	Unilateral renal agenesis, Vesicoureteral reflux, Quadricuspid aortic valve, Mitral valve prolaps...	OMIM:606408
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, High palate, Cone-shaped epi...	OMIM:266920
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Intrauteri...	OMIM:617914
L1 Syndrome	Depression, Aganglionic megacolon, Hydrocephalus, Adducted thumb, Aqueductal stenosis	ORPHA:275543
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Familial Multiple Lipomatosis	Bowing of the long bones, Premature eruption of permanent teeth, Abnormal tricuspid valve morphol...	ORPHA:199276
Holoprosencephaly-Craniosynostosis Syndrome	Holoprosencephaly	ORPHA:2163
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Long philtrum, Wide mouth, Thick vermilion border, Ventricular septal def...	ORPHA:261250
Wolf-Hirschhorn Syndrome	Ventricular septal defect, Talipes equinovarus, Radioulnar synostosis, Short hallux, Atrial septa...	OMIM:194190
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Intellectual Developmental Disorder, Autosomal Dominant 65	Low-set ears, Sparse hair, Thin eyebrow, Single transverse palmar crease, Low posterior hairline,...	OMIM:619320
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Slender finger, Dental crowding, Aortic dissection, Gingival recession, Thin vermilion border, Ta...	OMIM:618343
Nephronophthisis 18	Nephronophthisis, Stage 5 chronic kidney disease, Retinitis, Hydrocephalus, Tubulointerstitial ne...	OMIM:615862
Cockayne Syndrome B	Dry hair, Square pelvis bone, Abnormal hair morphology, Hypoplastic iliac wing, Postnatal growth ...	OMIM:133540
Diaphanospondylodysostosis	Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Intrauterine growth retardation, Talipes...	OMIM:608022
Multiple Epiphyseal Dysplasia Type 4	Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Talipes eq...	ORPHA:93307
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup...	ORPHA:79404
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Renal cyst, Hypospadias, Syndactyly	OMIM:605231
Hydranencephaly	Ventriculomegaly, Dilatation of the ventricular cavity, Intrauterine growth retardation, Postnata...	ORPHA:2177
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Phace Syndrome	Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo...	ORPHA:42775
Hallermann-Streiff Syndrome	Low-set ears, Sparse eyebrow, Slender long bone, Optic disc coloboma, Chorioretinal coloboma, Fin...	OMIM:234100
Fanconi Anemia, Complementation Group S	Dental malocclusion, Clinodactyly, Thick upper lip vermilion, Macrodontia, Microphthalmia, Short ...	OMIM:617883
Noonan Syndrome 14	High, narrow palate, Clinodactyly, Long philtrum, Hypertrophic cardiomyopathy, Limited elbow exte...	OMIM:619745
Congenital Disorder Of Glycosylation, Type Iia	Slender long bone, Long philtrum, Diastema, Postnatal growth retardation, Macrodontia, Wide mouth...	OMIM:212066
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Dental crowding, Clinodactyly, Downturned corners of mouth, Thick lower lip vermil...	ORPHA:261323
Mucopolysaccharidosis Type 3	Hearing impairment, Genu valgum, Urinary glycosaminoglycan excretion, Abnormal mitral valve morph...	ORPHA:581
Opitz Gbbb Syndrome	Aortic root aneurysm, Natal tooth, Ankyloglossia, Ventricular septal defect, Atrial septal defect...	ORPHA:2745
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Abnormal heart morphology, Tented upper lip vermilion, Polydactyly, Deep philtrum, High palate	ORPHA:314655
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Intrauterine g...	OMIM:620076
Duane Retraction Syndrome	Hearing impairment, Chorioretinal coloboma, Sensorineural hearing impairment, Low posterior hairl...	ORPHA:233
Trichohepatoenteric Syndrome 1	Galactosuria, Bifid uvula, Long philtrum, Tetralogy of Fallot, Renal cortical microcysts, Avascul...	OMIM:222470
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Neopla...	ORPHA:2241
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Dilated cardiomyopathy	ORPHA:79230
Lateral Meningocele Syndrome	Dental crowding, Long philtrum, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm...	OMIM:130720
Chromosome 17P13.1 Deletion Syndrome	Highly arched eyebrow, Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Lo...	OMIM:613776
Congenital Pulmonary Lymphangiectasia	Growth delay, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Alopecia, Ventriculomegaly, Finger sy...	ORPHA:1647
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Small hand, Clinodactyly, Ventricular septal defect, Atrial septal defect, Short foot, Downturned...	OMIM:301044
Monosomy 9Q22.3	Low-set ears, Palmar pits, Ventriculomegaly, Umbilical hernia, Retinopathy, Cardiac fibroma, Poly...	ORPHA:77301
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Small hand, Aortic root aneurysm, Narrow mouth, Urinary bladder wall hypertrophy, Atrial septal d...	ORPHA:280633
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,...	OMIM:259600
Holoprosencephaly 1	Tessier cleft, Median cleft palate, Median cleft upper lip, Single ventricle, Microphthalmia, Mic...	OMIM:236100
Senior-Loken Syndrome 9	Macular degeneration, Nephronophthisis, Stage 5 chronic kidney disease, Polydactyly, Hypoplasia o...	OMIM:616629
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Overlapping fingers, Intrauterine growth retardation, Narrow mouth...	OMIM:608779
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopath...	ORPHA:71212
Hyperphenylalaninemia, Bh4-Deficient, B	Increased CSF phenylalanine concentration, Decreased urinary neopterin level, Elevated urinary su...	OMIM:233910
Nance-Horan Syndrome	Protruding ear, Retinal detachment, Short metacarpal, Microphthalmia	ORPHA:627
Microphthalmia, Syndromic 6	Low-set ears, Renal hypoplasia, Toe syndactyly, Ventriculomegaly, Hearing impairment, Finger synd...	OMIM:607932
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Long philtrum, Camptodactyly of finger, Abnormality of the ureter, Intrauterin...	ORPHA:2311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Optic atrophy, Ventriculomegaly, Occipital encephalocele, Atresia of the external a...	OMIM:236670
Kabuki Syndrome	Small hand, Renal hypoplasia/aplasia, Duplicated collecting system, High palate, Hypospadias, Hip...	ORPHA:2322
Otodental Syndrome	Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo...	ORPHA:2791
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Protruding ear, Retinal detachment, Chorioretinal lacunae, Chorioretinal dysplasia...	OMIM:152950
Basal Cell Nevus Syndrome 1	Palmar pits, Hamartomatous stomach polyps, Short distal phalanx of the thumb, Cleft upper lip, Ca...	OMIM:109400
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Rhizomelia, ...	OMIM:228520
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Postaxial polydactyly, Brachydactyly, Rod-cone dystrophy, Short long bone	OMIM:615633
Crouzon Syndrome	Optic atrophy, Conductive hearing impairment, Hearing impairment, Narrow internal auditory canal,...	ORPHA:207
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Myoglobinur...	OMIM:609015
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Multicystic kidney dysplasia, Optic nerve hypoplasia, Sandal gap, Long philtrum...	ORPHA:261349
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Finger clinodactyly, Camptodactyly of finger, Tetralogy of Fallot, Pectoral muscle...	ORPHA:306542
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Mitral valve prolapse, Camp...	ORPHA:2848
1P36 Deletion Syndrome	Narrow mouth, Abnormal intestine morphology, Abnormality of the kidney, Foot polydactyly, Short f...	ORPHA:1606
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Prominent scalp veins, Narrow mouth, Hypospadias, Hypoplastic ilia, Downturned corne...	ORPHA:3455
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Long philtrum, Hypertrophic cardiomyopathy, Overlapping toe, Overlapping fingers, Tented upper li...	OMIM:619383
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Palmoplantar keratoderma, Finger syndactyly, Delayed eruption of teeth, Widely spa...	ORPHA:1071
Joubert Syndrome 40	Postaxial polydactyly, Optic nerve hypoplasia	OMIM:619582
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste...	OMIM:618775
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, High, narrow palate, Ulnar deviation of the hand or of fingers of the hand, Epiphy...	OMIM:214100
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Alkuraya-Kucinskas Syndrome	Low-set ears, Hand clenching, Ventriculomegaly, Clinodactyly, Overlapping toe, Overlapping finger...	OMIM:617822
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Optic atrophy, Ventriculomegaly, Homocystinuria, Lethargy, Hydrocephalus	ORPHA:395
Tetrasomy 5P	Low-set ears, Congestive heart failure, Postnatal growth retardation, Overlapping toe, Clinodacty...	ORPHA:3309
Isolated Complex I Deficiency	Proximal tubulopathy, Hypertrophic cardiomyopathy, Increased CSF lactate, Intrauterine growth ret...	ORPHA:2609
Williams Syndrome	Carious teeth, Dental malocclusion, Open bite, Genu valgum, Mitral valve prolapse, Ventricular se...	ORPHA:904
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Cardiomegaly, Lethargy, Arrhythmia	ORPHA:42
Developmental And Epileptic Encephalopathy 1	Micropenis, Growth delay, Microphthalmia	OMIM:308350
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Dilatation of the renal pelvis, Long philtrum, Postnatal growth retardation, Intrauterine growth ...	OMIM:620510
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Ventricular septal defect, Bicusp...	ORPHA:353281
49,Xxxxy Syndrome	Holoprosencephaly	ORPHA:96264
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma...	OMIM:257850
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Ventriculomegaly, Horizontal eyebrow, Long eyelashes, Hydronephrosis, ...	OMIM:609757
Pontocerebellar Hypoplasia, Type 8	Talipes equinovarus, Tented upper lip vermilion, Patent foramen ovale, Ventricular septal defect	OMIM:614961
Atelosteogenesis Type I	Rhizomelia, Talipes equinovarus, Neonatal short-trunk short stature, Limb undergrowth, Multiple r...	ORPHA:1190
Marshall-Smith Syndrome	Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Ventricular septal def...	OMIM:602535
Propionic Acidemia	Hyperglycinuria, Increased level of hippuric acid in urine, Cardiomyopathy, Cerebellar hemorrhage...	OMIM:606054
Fanconi Anemia, Complementation Group Q	Absent thumb, Anteriorly placed anus, Esophageal atresia, Short stature, Growth delay, Primum atr...	OMIM:615272
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Clinodactyly, Overlapping toe, Everted lower lip vermilion, Abnormalit...	ORPHA:177907
Pseudo-Torch Syndrome 2	Ventriculomegaly, Secundum atrial septal defect, Lateral ventricle dilatation, Bradycardia, Letha...	OMIM:617397
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Hearing impairment, Radial deviation of finger, Hyperautofluorescent ...	OMIM:209900
Warburg Micro Syndrome 4	Optic atrophy, Decreased motor nerve conduction velocity, Low anterior hairline, Hirsutism, Sever...	OMIM:615663
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Hearing impairment, Postnatal growth retardation, Abnorm...	ORPHA:235
Iniencephaly	Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal...	ORPHA:63259
Meckel Syndrome, Type 6	Postaxial foot polydactyly, Cleft upper lip, Aplasia of the bladder, Horseshoe kidney, Hepatic cy...	OMIM:612284
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Arrhythmia, Lethargy, Cardiac arrest	ORPHA:99745
Diamond-Blackfan Anemia	Adenocarcinoma of the colon, Cleft lip, Absent thumb, Abnormality of the thenar eminence, Short t...	ORPHA:124
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Hearing impairment, Radial club hand, Cutaneous finge...	ORPHA:93322
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst, Short stature, Clinodactyly of the 5th finger, Glossopt...	ORPHA:2031
Senior-Loken Syndrome 8	Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-complex deposit...	OMIM:616307
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Cleft palate	OMIM:612913
Syngap1-Related Developmental And Epileptic Encephalopathy	Wide mouth, Narrow mouth, Postaxial polydactyly, Thin vermilion border, High palate, Hypospadias	ORPHA:544254
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Cardiomyopathy, Steatorrhea, Stroke-like episode, Villous atrophy, Proteinu...	OMIM:212065
Cutis Laxa, Autosomal Recessive, Type Iic	Hand clenching, Nephrocalcinosis, Dental crowding, Long philtrum, Biventricular hypertrophy, Over...	OMIM:617402
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Radio-Tartaglia Syndrome	High, narrow palate, Dental crowding, Long philtrum, Ventricular septal defect, Thin upper lip ve...	OMIM:619312
Tuberous Sclerosis 1	Dental enamel pits, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Re...	OMIM:191100
Goldberg-Shprintzen Syndrome	Small hand, Vesicoureteral reflux, Ventricular septal defect, Oligodontia, Aganglionic megacolon,...	OMIM:609460
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Anal atresia, Hypospadias, Syndactyly, ...	OMIM:305450
Bdv Syndrome	Micropenis, Delayed puberty, Atrial septal defect	OMIM:619326
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Disproportionate short-limb short stature, Fl...	OMIM:187600
Cerebral Visual Impairment	Optic atrophy, Ischemic stroke, Hydrocephalus, Retinopathy of prematurity, Optic disc pallor, Int...	ORPHA:447788
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Atrial septa...	OMIM:250220
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Neurodegeneration And Seizures Due To Copper Transport Defect	Ventriculomegaly, Short tibia, Tricuspid regurgitation, Glandular hypospadias, Increased CSF lact...	OMIM:620306
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Bifid uvula, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Long philtrum, Widely sp...	OMIM:617506
Magel2-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Small hand, Ventriculomegaly, Lethargy, Atrial septal defect, Hip...	ORPHA:398069
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Multiple renal cysts	OMIM:614883
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Prominent scalp veins, Subluxation of the small joints of the hand, Dyspla...	ORPHA:536471
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Carpal synostosis, Elbow flexion contracture, Cutaneous finger syndactyly, Hip contracture, Ventr...	OMIM:178110
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Dilatation of the cerebral artery, Intestinal malrotation, Aortic ar...	OMIM:613834
De Barsy Syndrome	Congenital hip dislocation, Delayed eruption of teeth, Prominent veins on trunk, Postnatal growth...	ORPHA:2962
Aicardi Syndrome	Optic atrophy, Dilated third ventricle, Sparse lateral eyebrow, Optic disc coloboma, Lateral vent...	OMIM:304050
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Abnormal epiphysis morphology, Umbilical hernia, Short finger, Pituitary dwarfism, Sensorineural ...	ORPHA:226307
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Atrial septal defect, Short sta...	OMIM:614207
Braddock Syndrome	Unilateral renal agenesis, Preaxial hand polydactyly, Intrauterine growth retardation, Abnormal h...	ORPHA:52047
Sim1-Related Prader-Willi-Like Syndrome	Chorioretinal hypopigmentation, Small hand, Ventriculomegaly, Lethargy, Hip dysplasia, Micropenis...	ORPHA:398079
Holoprosencephaly 4	Semilobar holoprosencephaly	OMIM:142946
Joubert Syndrome With Renal Defect	Nephropathy, Highly arched eyebrow, Low-set, posteriorly rotated ears, Renal insufficiency, Encep...	ORPHA:220497
Chromosome 8Q21.11 Deletion Syndrome	Downturned corners of mouth, Exaggerated cupid's bow, Short philtrum, Camptodactyly, Syndactyly, ...	OMIM:614230
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Delayed eruption of primary teeth, Abs...	OMIM:149730
Sweeney-Cox Syndrome	Short distal phalanx of finger, Velopharyngeal insufficiency, Narrow mouth, Median cleft palate, ...	OMIM:617746
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Short distal phalanx of finger, Peripheral pulmonary artery s...	OMIM:118450
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Preaxial hand polydactyly, Urinary bladder wall hypertrop...	OMIM:601389
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic acidur...	OMIM:212138
Riboflavin Deficiency	Lethargy, Dicarboxylic aciduria	OMIM:615026
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Carious teeth, Diastema, Intestinal malrotation, Narrow mouth, Single...	OMIM:244450
Oculoauricular Syndrome	Low-set ears, Chorioretinal coloboma, Retinal coloboma, Stenosis of the external auditory canal, ...	OMIM:612109
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Ankyloglossia, Aniridia, Brachydactyly, Microphthalmia, Mic...	OMIM:602361
Joubert Syndrome With Hepatic Defect	Low-set ears, Nephropathy, Multicystic kidney dysplasia, Highly arched eyebrow, Occipital encepha...	ORPHA:1454
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Dilated third ventricle, Lateral ventricle dilatation, Retinal hemorrhage, Talipes equinovarus, R...	OMIM:620371
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Abnormal renal collecting system morphology, Growth delay, Methylmalonic...	ORPHA:17
Incontinentia Pigmenti	Supernumerary nipple, Hypoplasia of the fovea, Retinal detachment, Microphthalmia, Sparse hair, O...	OMIM:308300
Spondyloocular Syndrome	Abnormality of the dentition, Overlapping toe, Mitral valve prolapse, Arachnodactyly, Femur fract...	OMIM:605822
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Arte...	ORPHA:1556
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Lethargy, Tetralogy of Fallot	OMIM:250620
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Proximal tubulopathy, Villous atrophy, Renal cyst, Lymphangiectasis, ...	OMIM:602579
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Ventriculomegaly, Patellar hypoplasia, Preaxial foot polydactyly...	ORPHA:1827
Semilobar Holoprosencephaly	Depression, Abnormal heart morphology, Abnormality of the autonomic nervous system, Sensorineural...	ORPHA:220386
Alobar Holoprosencephaly	Depression, Abnormal heart morphology, Abnormality of the autonomic nervous system, Sensorineural...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Abnormal heart morphology, Abnormality of the autonomic nervous system, Sensorineural...	ORPHA:93926
Lobar Holoprosencephaly	Depression, Abnormal heart morphology, Abnormality of the autonomic nervous system, Sensorineural...	ORPHA:93924
Coach Syndrome 2	Hypertension, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Low-set ears, Hypoplastic scapulae, Clinodactyly, Abnormal earlobe morphology, Abnormal antihelix...	ORPHA:95699
X-Linked Mandibulofacial Dysostosis	Short stature, Pulmonic stenosis, Abnormal mitral valve morphology, High palate	ORPHA:1131
47,Xyy Syndrome	Low-set ears, Finger clinodactyly, Azoospermia, Hydrocephalus, Oligozoospermia, Micropenis, Hypos...	ORPHA:8
Galloway-Mowat Syndrome 1	Low-set ears, Optic atrophy, Hand clenching, Joint contracture of the hand, Slender finger, Focal...	OMIM:251300
Vacterl Association With Hydrocephalus	Renal hypoplasia, Absent thumb, Radial club hand, Abnormal heart morphology, Hydrocephalus, Still...	OMIM:276950
Radio-Renal Syndrome	Severe short stature, High, narrow palate, Multicystic kidney dysplasia, Micromelia, Renal agenes...	ORPHA:3015
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Intracranial hemorrhage, Nephrolithiasis, Ventricular septal defect	ORPHA:369929
Loeys-Dietz Syndrome 4	High, narrow palate, Bifid uvula, Aortic root aneurysm, Aortic dissection, Broad uvula, Arterial ...	OMIM:614816
Cardiofaciocutaneous Syndrome 1	Low-set ears, Hearing impairment, Absent eyelashes, Low posterior hairline, Absent eyebrow, Atria...	OMIM:115150
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Lethargy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Abnormality of the dentition, Secundum atrial septal defect, Enamel hypoplasia, Shor...	OMIM:615802
Classic Galactosemia	Lethargy, Depression, Delayed puberty	ORPHA:79239
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Griscelli Syndrome	Silver-gray hair, White hair, Premature graying of hair, Abnormal eyebrow morphology, Encephaloce...	ORPHA:381
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, High, narrow palate, Intestinal bleeding, Broad thumb, Protein-losing e...	ORPHA:79076
Donnai-Barrow Syndrome	Hypoplasia of the iris, Intestinal malrotation, Ventricular septal defect, Proteinuria, Short ste...	OMIM:222448
Chromosome 14Q11-Q22 Deletion Syndrome	Long philtrum, Narrow mouth, Renal tubular acidosis, Patent foramen ovale, Ventricular septal def...	OMIM:613457
Hypermethioninemia Due To Adenosine Kinase Deficiency	Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis	OMIM:614300
Hereditary Central Diabetes Insipidus	Lethargy, Growth delay	ORPHA:30925
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal neuron morphology, Preaxial polydactyly	ORPHA:163681
Ferguson-Bonni Neurodevelopmental Syndrome	High palate, Coronary-pulmonary artery fistula, Patent foramen ovale	OMIM:619699
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Atrial septal defect, Patent ductus ...	ORPHA:1790
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Carious teeth, Grade III vesicoureteral reflux, Ventricular septal defect, Urethral stricture, Ch...	OMIM:619522
Garg-Mishra Progeroid Syndrome	Sparse hair, Slender long bone, Small nail, Slender metacarpals, Postnatal growth retardation, Mi...	OMIM:620601
Diphallia	Penoscrotal transposition, Renal malrotation, Absent thumb, Duplicated colon, Abnormal heart morp...	ORPHA:227
Medulloblastoma	Vertigo, Abnormal cranial nerve morphology, Cerebellar hemorrhage, Lethargy, Hydrocephalus, Bilat...	ORPHA:616
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bifid uvula, Ventricular septal defect, Short stature, High palate, Patent ductus arteriosus	OMIM:300472
Chromosome 16P13.3 Duplication Syndrome	Ventricular septal defect, Atrial septal defect, Small thenar eminence, Hip dislocation, Short to...	OMIM:613458
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Cleft lip, Prominent fingertip pads, Thick vermilion border, Joint contracture of the 5th finger,...	OMIM:620098
Laubry-Pezzi Syndrome	Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv...	ORPHA:99094
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Dental crowding, Synostosis of the proximal phalanx of the thumb with the 1s...	OMIM:300967
Muenke Syndrome	Cone-shaped epiphysis, Carpal synostosis, Sensorineural hearing impairment, Hydrocephalus, Hypopi...	ORPHA:53271
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Abnormal metacarpophalangeal joint...	ORPHA:465508
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Intrauterine g...	ORPHA:364577
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Long philtrum, Patent foramen ovale, Ventricular septal defect, Pulmo...	OMIM:619268
Band Heterotopia	Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation	OMIM:600348
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Homocystinuria, Lethargy, Methylmalonic aciduria	OMIM:236270
Gm1 Gangliosidosis	Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Cardiomyopathy, Cherry red s...	ORPHA:354
Alg9-Cdg	Ventricular septal defect, Talipes equinovarus, Atrial septal defect, Broad ischia, Abnormal hear...	ORPHA:79328
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy, Renal insufficiency	ORPHA:28
Coffin-Siris Syndrome 1	Postnatal growth retardation, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Atria...	OMIM:135900
Otopalatodigital Syndrome, Type Ii	Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth re...	OMIM:304120
Brittle Cornea Syndrome	Abnormality of the dentition, Abnormal epiphysis morphology, Mitral valve prolapse, Arachnodactyl...	ORPHA:90354
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Penile freckling, Intestinal polyposis, Lymphoid nodular hyperplasia, ...	ORPHA:210548
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Situs inversus...	ORPHA:991
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Limb Body Wall Complex	Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s...	ORPHA:2369
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco...	ORPHA:97362
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Crigler-Najjar Syndrome	Vertigo, Lethargy, Hearing impairment	ORPHA:205
Susac Syndrome	Vertigo, Sensorineural hearing impairment, Tinnitus, Lethargy, Apathy	ORPHA:838
Arachnoid Cyst	Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:2356
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Short stature, Atrial septal defect	OMIM:619115
Schinzel-Giedion Syndrome	Abnormality of the ureter, Overlapping toe, Overlapping fingers, Radioulnar synostosis, High pala...	ORPHA:798
Alveolar Echinococcosis	Abnormal pericardium morphology, Hepatic cysts, Abnormal bladder morphology, Renal cyst, Abnormal...	ORPHA:284
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Failure of eruption of permanent te...	OMIM:272460
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Bicuspid aortic valve, Subvalvular aortic stenosis, Dysplastic aorti...	OMIM:620067
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypospadias, Undetectable visual evoked potentials, Increased CSF protein concentration, Growth d...	OMIM:252010
Joubert Syndrome 27	Retinopathy, Polydactyly	OMIM:617120
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Dilatation of the renal pelvis, Short 5th toe, Cleft soft palate, Ventricu...	ORPHA:268261
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Central Diabetes Insipidus	Lethargy, Depression, Nocturia	ORPHA:178029
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation, Atrial septal defec...	ORPHA:505248
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Long hallux, Genu valgum,...	ORPHA:261537
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Long philtrum, Thick lower lip vermilion, Mitral valve prolapse, Bicuspid aortic valve, Right atr...	ORPHA:555877
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts, Polydactyly, Brachydactyly, Short long bone, Short...	OMIM:613819
Den Hoed-De Boer-Voisin Syndrome	Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Sandal gap, Delayed eruption ...	OMIM:619229
8Q21.11 Microdeletion Syndrome	Abnormality of the dentition, Finger syndactyly, Downturned corners of mouth, Camptodactyly of fi...	ORPHA:284160
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Single transver...	OMIM:618161
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Aplasia/Hypoplasia of the earlobes, Optic atrophy, Palmoplantar keratoderma, Umbilical hernia, He...	ORPHA:1555
Hardikar Syndrome	Cleft soft palate, Ventricular septal defect, Bilateral cleft palate, Atrial septal defect, Celia...	OMIM:301068
Mowat-Wilson Syndrome	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Genu valgum, Open mouth, ...	ORPHA:2152
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, 2-ethylhydracylic aciduria	OMIM:610006
Frontofacionasal Dysplasia	Absent inner eyelashes, Encephalocele, Microphthalmia, Aplasia/Hypoplasia of the eyebrow, Short s...	ORPHA:1791
Carnitine Palmitoyl Transferase 1A Deficiency	Hypertrophic cardiomyopathy, Renal tubular acidosis, Lethargy, Arrhythmia, Sudden cardiac death	ORPHA:156
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Heparan sulfate excreti...	ORPHA:217085
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Galactosuria, Small hand, Organic aciduria, Downturned corners of mouth, Limited e...	ORPHA:85276
Mowat-Wilson Syndrome	Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Widely spaced...	OMIM:235730
Zttk Syndrome	Unilateral renal agenesis, Small hand, Bifid uvula, Abnormality of the dentition, Downturned corn...	OMIM:617140
Birt-Hogg-Dube Syndrome 1	Renal cyst, Large intestinal polyposis, Renal cell carcinoma, Renal neoplasm, Colon cancer	OMIM:135150
Fontaine Progeroid Syndrome	Narrow mouth, Protruding tongue, Bicuspid aortic valve, Atrial septal defect, Everted lower lip v...	OMIM:612289
Developmental And Epileptic Encephalopathy 41	Lethargy, Nephrocalcinosis	OMIM:617105
Ulnar-Mammary Syndrome	Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Absent radius, Anal atresia, Shor...	OMIM:181450
Pontocerebellar Hypoplasia, Type 7	Low-set ears, Optic atrophy, Ventriculomegaly, Single transverse palmar crease, Hirsutism, Hydroc...	OMIM:614969
Lissencephaly 9 With Complex Brainstem Malformation	Short stature, Ventricular septal defect	OMIM:618325
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Lethargy, Hypercalciuria, Polyuria	OMIM:143880
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Intestinal malrotation, Intrauterine growth retardation, Intestin...	OMIM:243150
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Horseshoe kidney, Atrial septal defect, Abnormality of the kidney, Ect...	ORPHA:3109
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Bilateral conductive hearing impairment, Atresia of the external auditory canal, Br...	OMIM:620186
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Acute kidney injury, Oliguria, Growth delay, Recurrent urinary tract ...	ORPHA:731
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hearing abnormality, Hydrocephalus	ORPHA:251915
Ohdo Syndrome, X-Linked	Clinodactyly, Short thumb, Long philtrum, Widely spaced teeth, Overlapping toe, Microphthalmia, L...	OMIM:300895
Congenital Disorder Of Glycosylation, Type Iq	Low-set ears, Optic atrophy, Hypertrichosis, Microphthalmia	OMIM:612379
Al-Gazali-Bakalinova Syndrome	Low-set ears, Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphysis, ...	OMIM:607131
Frontonasal Dysplasia 2	Low-set ears, Sparse eyebrow, Fine hair, Alopecia totalis, Intrauterine growth retardation, Encep...	OMIM:613451
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Myoclonic-Astatic Epilepsy	Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microphthalmia, Broad philtru...	ORPHA:1942
Oculo-Palato-Cerebral Syndrome	Aplasia/Hypoplasia of the nails, Small hand, Intrauterine growth retardation, Thickened helices, ...	ORPHA:2714
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Intrauterine growth retardation, Submucous cleft hard palate, Chordee, Dela...	OMIM:618891
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Short lingual frenulum, Ventricular septal defect, Atrial septal defect, H...	ORPHA:96121
Microphthalmia/Coloboma 12	Ventriculomegaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicouretera...	OMIM:120200
Myopathy With Extrapyramidal Signs	Tented upper lip vermilion, Growth delay, Ventricular septal defect	OMIM:615673
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Coronary artery fistula, Ventricular septal defect, Atrial septal defe...	OMIM:620024
Hurler-Scheie Syndrome	Aortic regurgitation, Umbilical hernia, Camptodactyly of finger, Heparan sulfate excretion in uri...	OMIM:607015
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy, Long hallux, Long thumb, Microdontia, Thin upper lip vermilion, Hypospadi...	OMIM:603736
Apert Syndrome	Optic atrophy, Ventriculomegaly, Toe syndactyly, Conductive hearing impairment, Finger syndactyly...	ORPHA:87
Pfeiffer Syndrome Type 2	Low-set ears, Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Atresia of the ext...	ORPHA:93259
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Heparan sulfate excreti...	ORPHA:217093
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, P...	OMIM:618727
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Lethargy, Cerebral ischemia	ORPHA:927
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Tuberous Sclerosis 2	Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Renal cell...	OMIM:613254
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Optic disc hypoplasia, Long philtrum, Exaggerated cupid's bow, Ventricular septal defect, Thin up...	OMIM:619306
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Low-set ears, Ventriculomegaly, Colpocephaly, Hydrocephalus, Brachydactyly, Growth delay, Synophrys	OMIM:620156
Esophageal Atresia	Barrett esophagus, Abnormality of the urinary system, Cleft lip, Renal agenesis, Clinodactyly, Te...	ORPHA:1199
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Depression, Hearing impairment, Shoulder girdle muscle weakness, Bradykin...	ORPHA:254892
Peters-Plus Syndrome	Square pelvis bone, Postnatal growth retardation, Short lingual frenulum, Ventricular septal defe...	OMIM:261540
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Broad hallux, Lobulated tongue, Hamartoma of tongue, Deviation of the...	ORPHA:434179
Isovaleric Acidemia	Hyperglycinuria, Cerebellar hemorrhage, Elevated urinary isovalerylglycine level, Lethargy	OMIM:243500
Achondroplasia	Rhizomelia, Neonatal short-limb short stature, Conductive hearing impairment, Radial bowing, Flar...	OMIM:100800
Monosomy 13Q14	Low-set ears, Finger syndactyly, Intrauterine growth retardation, Retinoblastoma, Protruding ear,...	ORPHA:1587
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Brain-Lung-Thyroid Syndrome	Growth delay, Megacystis, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect,...	ORPHA:209905
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Perineal fistula, Renal hypoplasia/aplasia, R...	ORPHA:2753
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Atrioventricular canal defect, Narrow mouth, Exaggerated cupid's bow, Coarctation of...	OMIM:619480
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Slender toe, Hydrocephalus, Facial palsy, Dandy-Walker malformation	OMIM:310400
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hearing impairment, White hair, Ocular albinism, Abnormal hip bone morphology, Arachnodactyly, Hy...	ORPHA:2720
Cranioectodermal Dysplasia 3	Peripheral pulmonary artery stenosis, 2-4 toe syndactyly, Nephronophthisis, Rhizomelia, Sandal ga...	OMIM:614099
Pancreatic Agenesis-Holoprosencephaly Syndrome	Holoprosencephaly, Semilobar holoprosencephaly	ORPHA:556955
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal dental pulp morphology, Long philtrum, Abnormal heart morphology, Hypertrophic cardiomyo...	ORPHA:363700
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Ventricu...	OMIM:619727
Bardet-Biedl Syndrome	Chronic kidney disease, Fifth finger distal phalanx clinodactyly, Inflammation of the large intes...	ORPHA:110
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Joint contracture of the hand, Mitral valve prolapse, 2-3 toe syndactyly, B...	OMIM:611962
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Ventriculomegaly, Erlenmeyer flask deformity of the femurs, Long eyelashes, Hydroc...	OMIM:618476
Noonan Syndrome 6	Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis, Growth delay	OMIM:613224
Holocarboxylase Synthetase Deficiency	Alopecia, Lethargy, Growth delay, Organic aciduria	ORPHA:79242
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Disproportionate short stature, Hearing impairment, Congestive ...	OMIM:616482
Rabin-Pappas Syndrome	Highly arched eyebrow, Conductive hearing impairment, Sensorineural hearing impairment, Retinal d...	OMIM:620155
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Arteria lusoria, Anteriorly placed anus, Tibial torsion, Overlapping toe, Vesicoureteral reflux, ...	OMIM:618653
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Intrauterine growth retardation, Open mouth, Ventricular septal defect, Talipes e...	OMIM:614653
Intellectual Developmental Disorder, Autosomal Dominant 39	Bilateral talipes equinovarus, Hydrocephalus	OMIM:616521
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Patent foramen ovale, Ventri...	OMIM:618748
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Dental malocclusion, Clinodactyly, Down-sloping shoulders, Renal cyst, Scapular wi...	OMIM:615560
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Facial paralysis, Cranial nerve compression, Genu valgum, Hydrocephalus, Diaphysea...	OMIM:259710
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Cockayne Syndrome A	Dry hair, Square pelvis bone, Hypoplastic iliac wing, Hip contracture, Sensorineural hearing impa...	OMIM:216400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, E...	OMIM:201475
Campomelic Dysplasia	Low-set ears, Delayed epiphyseal ossification, Hypoplastic scapulae, Hearing impairment, Shorteni...	OMIM:114290
Trichothiodystrophy	Ventricular septal defect, Brittle hair, Split nail, Bilateral sensorineural hearing impairment, ...	ORPHA:33364
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Finger syn...	OMIM:620025
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Clubbing, Bact...	ORPHA:97214
H Syndrome	Alopecia, Hearing impairment, Hypertrichosis, Abnormal eyebrow morphology, Azoospermia, Facial te...	ORPHA:168569
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemic stroke, ...	ORPHA:90065
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ...	ORPHA:26793
Meester-Loeys Syndrome	Bifid uvula, Pulmonary artery aneurysm, Broad distal phalanx of finger, Aortic root aneurysm, Aor...	OMIM:300989
Trichinellosis	Abnormal optic nerve morphology, Vertigo, Central retinal artery occlusion, Tinnitus, Lethargy, A...	ORPHA:863
Evans Syndrome	Epistaxis, Lethargy, Syncope	ORPHA:1959
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Absent thumb, Lateral ventricle dilatation, Horseshoe kidney, Bowed forearm bon...	OMIM:602200
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Short stature, Macroglossia, Growth delay, Atrial septal defect	ORPHA:93947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Hydrocephalus, Microphthalmia, Buphthalmos, Retinal dystrophy	OMIM:616538
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Medial calcification of large arteries, High palate, Mitral valve prolapse, ...	OMIM:177850
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Low-set ears, Sandal gap, Brachydactyly, Hydrocephalus	ORPHA:2180
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Distal renal tubular acidosis, Lethargy, Isothenuria, Short stature	OMIM:611590
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Facial paralysis, Hearing impairment, Flared metaphysis, Femur fracture, Hydroceph...	OMIM:259700
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Long hallux, Genu valgum,...	ORPHA:261552
Genitopatellar Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bow...	OMIM:606170
Caroli Disease	Polycystic kidney dysplasia, Esophageal varix	ORPHA:53035
Omodysplasia 1	Rhizomelia, Disproportionate short-limb short stature, Short tibia, Long philtrum, Limited elbow ...	OMIM:258315
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Clinodactyly, Long philtrum, Broad finger, Tented upper lip vermilion, Ventr...	ORPHA:488632
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Tooth malposition, Small hand, Overlapping toe, Atrial septal defect, High palate, Anal atresia, ...	ORPHA:480880
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Ventricular septal defect, S...	OMIM:616268
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Congenital hip dislocation, Growth delay, Flared metaphysis, Dis...	OMIM:616007
Vici Syndrome	Dilated cardiomyopathy, Everted upper lip vermilion, Cardiomyopathy, Long philtrum, Cleft upper l...	OMIM:242840
Pseudoxanthoma Elasticum	Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Coronary artery atheroscleros...	OMIM:264800
Noonan Syndrome 1	High, narrow palate, Dental malocclusion, Clinodactyly, Radial deviation of finger, Hypertrophic ...	OMIM:163950
Cockayne Syndrome Type 3	Vascular calcification, Unilateral renal agenesis, Renal hypoplasia, Carious teeth, Aortic root a...	ORPHA:90324
Cardiomyopathy, Familial Hypertrophic, 11	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri...	OMIM:612098
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Intrauterine growth retardation, Micro...	OMIM:614083
Mandibuloacral Dysplasia Progeroid Syndrome	Decreased fibular diameter, Postnatal growth retardation, Dysplasia of the femoral head, Genu val...	OMIM:619127
Adnp Syndrome	Low-set ears, Urinary incontinence, High anterior hairline, Broad thumb, Sparse scalp hair, Sanda...	ORPHA:404448
Peho Syndrome	Optic atrophy, Ventriculomegaly, Hydrocephalus, Abnormal pinna morphology, Macrotia, Tapered finger	ORPHA:2836
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Sparse eyebrow, Cupped ear, Microphthalmia, Clinodactyly of the 5th finger, Widow's...	OMIM:167730
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Enterocolitis, Microphthalmia, Nephrotic syndrome, Mild prote...	OMIM:301108
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Low-set ears, Optic atrophy, Slender long bone, Hypertrichosis, Right bundle branch block, Hydroc...	OMIM:618590
Hemangioblastoma	Vertigo, Retinal capillary hemangioma, Neurogenic bladder, Hydrocephalus	ORPHA:252054
Congenital Tracheal Stenosis	Hypoplastic left heart, Meckel diverticulum, Duodenal atresia, Duodenal stenosis, Abnormal stomac...	ORPHA:141127
Chiari Malformation Type Ii	Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida	OMIM:207950
Frontonasal Dysplasia 3	Tessier cleft, Cleft palate, Microphthalmia	OMIM:613456
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis, Cleft upper lip, Postnatal growth retardation, Overlapping toe, Gingiv...	OMIM:213980
Acromelic Frontonasal Dysostosis	Low-set ears, Ventriculomegaly, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Prea...	OMIM:603671
Insulinoma	Lethargy, Palpitations, Hearing abnormality	ORPHA:97279
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Sparse eyebrow, Cupped ear, Bilateral microphthalmos, Abnormality of cartilage of e...	ORPHA:2399
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Meckel diverticulum, Intrauterine growth retardation, Microphthalmia,...	OMIM:616395
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Undetectable visual evoked potentials, Ventriculomegaly, Flared metaphysis, Hydroc...	OMIM:259720
Isolated Thyroid-Stimulating Hormone Deficiency	Depression, Abnormal epiphysis morphology, Umbilical hernia, Lethargy, Delayed proximal femoral e...	ORPHA:90674
Biotinidase Deficiency	Optic atrophy, Alopecia, Organic aciduria, Sensorineural hearing impairment, Lethargy	OMIM:253260
Aymé-Gripp Syndrome	Low-set ears, Reduced arm span, Postnatal growth retardation, Sensorineural hearing impairment, R...	ORPHA:1272
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Restrictive Dermopathy	Low-set ears, Sparse eyebrow, Short nail, Camptodactyly of finger, Small placenta, Intrauterine g...	ORPHA:1662
Kabuki Syndrome 1	Anoperineal fistula, Postnatal growth retardation, Ventricular septal defect, Atrial septal defec...	OMIM:147920
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia	OMIM:248450
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Dilated third ventricle, Ventriculomegaly, Lateral ventric...	OMIM:613154
Trichothiodystrophy 1, Photosensitive	Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Brittle hair, Nail dystrophy, Pr...	OMIM:601675
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Toe syndactyly, Growth delay, Long philtrum, Short finger, Dilatation of the ventricular cavity, ...	ORPHA:459070
Ileal Neuroendocrine Tumor	Hydronephrosis, Tricuspid stenosis, Intestinal fistula, Pulmonic stenosis	ORPHA:100078
Congenital Tracheomalacia	Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti...	ORPHA:95430
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Microphth...	OMIM:300952
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Umbilical hernia	OMIM:618651
Nasu-Hakola Disease	Ventriculomegaly, Abnormal epiphysis morphology, Hydrocephalus	ORPHA:2770
Dengue Fever	Epistaxis, Hypotension, Gastrointestinal hemorrhage, Lethargy, Cerebral hemorrhage	ORPHA:99828
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Low-set ears, Small hand, Lateral ventricle dilatation, Postnatal growth retardation, Genu valgum...	ORPHA:300570
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Cardiomyopathy, Stage 5 chronic kidney disease, Cerebellar hemorrhage, Le...	OMIM:251000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Aortic root aneurysm, Downturned corners of mouth, Long philtrum, Hypoplasia of proxi...	ORPHA:444077
Pfeiffer Syndrome	Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin...	OMIM:101600
Trichohepatoneurodevelopmental Syndrome	Macroglossia, Hip dislocation, Dental crowding, Downturned corners of mouth, Widely spaced teeth,...	OMIM:618268
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Short distal phalanx of finger, Broad thumb, Small nail, Long eyelashes, Widow's p...	OMIM:201180
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Hypoplastic ilia, Slender long bones with narrow diaphyses, Postnatal growth retard...	ORPHA:536467
Houge-Janssens Syndrome 1	Congenital hip dislocation, Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly	OMIM:616355
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Low-set ears, Optic atrophy, Congenital hip dislocation, High anterior hairline, Thick eyebrow, S...	OMIM:619512
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyl...	OMIM:119800
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Intrauterine growth retardation, Gingival overgrowth, Ventricular s...	ORPHA:96191
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Hand muscle atrophy, Ve...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Hand muscle atrophy, Ve...	ORPHA:363958
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hypertrophic cardiomyopathy, Ventricular septal defect, Cubitus valgus, Deep palmar crease, Atria...	OMIM:607721
Intellectual Developmental Disorder, Autosomal Dominant 45	Arachnodactyly, Pulmonic stenosis	OMIM:617600
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Genu valgum, Open mouth, Hematuria, Everted lower lip ve...	ORPHA:534
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ventriculomegaly, Dilated cardiomyopathy, Lethargy, Left ventricular hypertrophy, Bilateral senso...	OMIM:618321
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Congenital Syphilis	Optic atrophy, Hearing impairment, Intrauterine growth retardation, Large placenta, Chorioretinit...	ORPHA:499009
Beare-Stevenson Cutis Gyrata Syndrome	Optic atrophy, Hypospadias, Ventriculomegaly, Atresia of the external auditory canal, Small nail,...	OMIM:123790
Hypothyroidism Due To Tsh Receptor Mutations	Abnormal epiphysis morphology, Umbilical hernia, Lethargy, Delayed proximal femoral epiphyseal os...	ORPHA:90673
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Abnormal hair morphology, Stenosis of the external auditory canal, Tracheal stenosis, Hip dysplas...	OMIM:601427
Mucopolysaccharidosis Type 2	Abnormal mitral valve morphology, Sensorineural hearing impairment, Arrhythmia, Abnormal heart mo...	ORPHA:580
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Abnormal hair whorl, Ventriculomegaly, Broad hallux, Postaxial polydac...	ORPHA:457284
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Low-set ears, Ventriculomegaly, Sandal gap, Fine hair, Supernumerary nipple, Aplastic/hypoplastic...	ORPHA:1812
Neuroocular Syndrome 1	Short uvula, Prominent fingertip pads, Downturned corners of mouth, Tibial torsion, Widely spaced...	OMIM:619539
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Chorioretinal coloboma, Macular atrophy, Retinal detachment, Microphthalmia, Buphthalmos, Retinal...	OMIM:212550
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis, Adducted thumb, Thumb contracture	OMIM:307000
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased CSF lactate, Intrauterine growth retardation, Sensorineural hearing impairment, Postaxi...	OMIM:615824
Scrub Typhus	Myocarditis, Lethargy, Hypotension, Renal insufficiency	ORPHA:83317
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Hydroureter, Polydactyly, Hydronephrosis, Postaxial hand polydactyly,...	OMIM:615989
Familial Hypoaldosteronism	Hypotension, Decreased urinary potassium, Lethargy, Orthostatic hypotension, Proximal renal tubul...	ORPHA:427
Aneurysm-Osteoarthritis Syndrome	Arterial dissection, Bifid uvula, Dental malocclusion, Aortic dissection, Arterial tortuosity, Ab...	ORPHA:284984
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker m...	OMIM:225790
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue, Pulmonic stenosis	OMIM:614325
Noonan Syndrome	Dilatation of the renal pelvis, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Postnatal...	ORPHA:648
Peutz-Jeghers Syndrome	Abnormality of the ureter, Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Esophag...	ORPHA:2869
Thalidomide Embryopathy	Abnormality of the outer ear, Hearing impairment, Preaxial hand polydactyly, Radial club hand, An...	ORPHA:3312
Rothmund-Thomson Syndrome, Type 2	Small hand, Premature graying of hair, Sparse eyelashes, Telangiectasia, Talipes equinovarus, Abs...	OMIM:268400
Williams-Beuren Syndrome	Open mouth, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Radioulnar s...	OMIM:194050
Dubowitz Syndrome	Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Hypoplasia of the iris, P...	OMIM:223370
17Q24.2 Microdeletion Syndrome	Tooth malposition, Broad thumb, Upper limb undergrowth, Abnormality of the wrist, Vesicoureteral ...	ORPHA:529962
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular canal def...	OMIM:619573
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst...	OMIM:603860
Joubert Syndrome 1	Nephropathy, Postaxial foot polydactyly, Clinodactyly, Triangular-shaped open mouth, Protruding t...	OMIM:213300
Osteoporosis-Pseudoglioma Syndrome	Tibial bowing, Ventricular septal defect, Phthisis bulbi, Metaphyseal widening, Microphthalmia, S...	OMIM:259770
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Dysuria, Postnatal growth retardati...	ORPHA:93110
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Hydroureter, Short 1st metacarpa...	OMIM:269150
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Slender finger, Secundum atrial septal defect, Tibial torsion, Postnatal growth retardation, Bicu...	OMIM:613355
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Prominent finge...	ORPHA:363611
Pallister-Killian Syndrome	Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Ventricular septal defect, Atrial ...	OMIM:601803
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Ventriculomegaly, Decreased nerve conduction velocity, Sen...	OMIM:610651
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Median pseudocleft lip, Ventricular septal defect, Bicuspid aortic val...	OMIM:616462
Maternal Uniparental Disomy Of Chromosome 2	Preaxial hand polydactyly, Postnatal growth retardation, Intrauterine growth retardation, Renal i...	ORPHA:96179
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, V...	OMIM:216340
Microphthalmia/Coloboma 9	Low-set ears, Macrotia, Retinal detachment, Microphthalmia, Macular coloboma	OMIM:615145
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Postnatal growth re...	ORPHA:96334
Pearson Syndrome	Glycosuria, Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Renal insuff...	ORPHA:699
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Proteinuria, Lethargy, Renal Fanconi syndrome, Tachycardia	ORPHA:263455
Hec Syndrome	Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia, Abnormal retinal vascular morphology, Com...	ORPHA:2119
Infantile Liver Failure Syndrome 2	Lethargy, Cardiomyopathy	OMIM:616483
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Bilateral microphthalmos, Long philtrum, Thick up...	ORPHA:2563
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Flared metaphysis, Ventricular septal defect, Thickened cor...	OMIM:620558
Carnitine Palmitoyltransferase I Deficiency	Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Lethargy, Arrhythmia	OMIM:255120
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Ventriculomegaly, Long eyelashes, Thick eyebrow, Hydrocephalus, Dandy-Walker malfo...	OMIM:617281
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Postnatal growth retardation, Genu valgum, Gastrointestinal ...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Postnatal growth retardation, Genu valgum, Gastrointestinal ...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Postnatal growth retardation, Genu valgum, Gastrointestinal ...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Postnatal growth retardation, Genu valgum, Gastrointestinal ...	ORPHA:881
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
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
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Oliguria, Cardiomyopathy, Dicarboxylic aciduria, Arrhythmia, Ventricular tachycardia...	ORPHA:159
Kinsship Syndrome	Renal hypoplasia, Downturned corners of mouth, Thick lower lip vermilion, Horseshoe kidney, Ankyl...	OMIM:619297
Ramos-Arroyo Syndrome	Severe short stature, Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Agan...	ORPHA:1051
Congenital Tricuspid Stenosis	Tricuspid stenosis	ORPHA:95459
Premature Aging Syndrome, Penttinen Type	Sparse hair, Short distal phalanx of finger, Slender long bone, Tibial bowing, Sensorineural hear...	OMIM:601812
Mirage Syndrome	Microphallus, Radial club hand, Intrauterine growth retardation, Overlapping fingers, Talipes equ...	OMIM:617053
Marfanoid-Progeroid-Lipodystrophy Syndrome	Intrauterine growth retardation, Mitral valve prolapse, Arachnodactyly, Hydrocephalus, Long finge...	OMIM:616914
Lateral Meningocele Syndrome	High, narrow palate, Dental crowding, Ventricular septal defect, Smooth philtrum, High palate	ORPHA:2789
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Citrullinemia Type I	Lethargy	ORPHA:247525
Pettigrew Syndrome	Optic atrophy, Ventriculomegaly, High-frequency hearing impairment, Sensorineural hearing impairm...	OMIM:304340
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Dark urine, Renal cyst, Steatorrhea, Fat malabsorption	ORPHA:79303
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Neonatal death	OMIM:618232
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology, Cleft soft palate, Narrow mouth, Wide mouth,...	OMIM:154500
Sturge-Weber Syndrome	Optic atrophy, Pulmonary embolism, Hearing abnormality, Abnormal choroid morphology, Conjunctival...	ORPHA:3205
Combined Oxidative Phosphorylation Deficiency 15	Small hand, Single transverse palmar crease, Ventricular septal defect, Ventricular septal hypert...	OMIM:614947
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Unilateral renal agenesis, Ventriculomegaly, Bilateral microphthalmos, Thin...	ORPHA:468631
Shprintzen-Goldberg Craniosynostosis Syndrome	Low-set ears, Joint contracture of the hand, Conductive hearing impairment, Umbilical hernia, Gen...	OMIM:182212
Keutel Syndrome	Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis...	OMIM:245150
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral valve prol...	OMIM:613795
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Femoral bowing, Mitral valve prolapse, Aortic aneurysm, Hip dysplasia,...	OMIM:166200
Thoracic Dysplasia-Hydrocephalus Syndrome	Conductive hearing impairment, Limb undergrowth, Short stature, Communicating hydrocephalus, Abno...	ORPHA:1861
Desmosterolosis	Low-set ears, Severe short stature, Ventriculomegaly, Micromelia, Abnormal earlobe morphology, Lo...	ORPHA:35107
Cutis Laxa, Autosomal Recessive, Type Iib	Congenital hip dislocation, Intrauterine growth retardation, Protruding ear, Bowing of the long b...	OMIM:612940
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Short stature, Lethargy, Ketonuria, Glycosuria	ORPHA:2089
Baller-Gerold Syndrome	Low-set ears, Carpal synostosis, Patellar aplasia, Limited elbow movement, Aphalangy of the hands...	OMIM:218600
Congenital Disorder Of Glycosylation, Type Iim	Intrauterine growth retardation, Open mouth, Ureteropelvic junction obstruction, Exaggerated cupi...	OMIM:300896
Treacher-Collins Syndrome	Tessier cleft, Abnormality of the dentition, Cleft upper lip, Tooth agenesis, Open bite, Abnormal...	ORPHA:861
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio...	ORPHA:398124
Aicardi Syndrome	Optic atrophy, Small hand, Ventriculomegaly, Sparse lateral eyebrow, Optic disc coloboma, Chorior...	ORPHA:50
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Volvulus, Intestinal malrotation, Overlapping toe, Ventricular septal defect, Proteinuria, Hiatus...	OMIM:616682
Holoprosencephaly 3	Holoprosencephaly	OMIM:142945
Necrotizing Enterocolitis	Hypotension, Shock, Abnormal heart morphology, Lethargy, Bradycardia	ORPHA:391673
Coccidioidomycosis	Vasculitis, Increased CSF protein concentration, Vasospasm, Hearing impairment, Hypoglycorrhachia...	ORPHA:228123
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Hearing impairment, Clinodactyly, Male urethral meatus stenosis, Over...	OMIM:613406
Caroli Syndrome	Esophageal varix, Polycystic kidney dysplasia, Abnormality of the kidney	ORPHA:480520
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Hearing impairment, Growth delay, Optic nerve compression, Abnorma...	ORPHA:667
Joubert Syndrome 23	Polydactyly, Sensorineural hearing impairment	OMIM:616490
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Mulberry molar, Microphthalmia, Short phalanx of finge...	OMIM:302350
Alstrom Syndrome	Nephritis, Pigmentary retinopathy, Dilated cardiomyopathy, Alopecia, Progressive sensorineural he...	OMIM:203800
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Abnormality of canine, Short thumb, Widely spaced teeth, Patent foramen ovale, Abnormal palate mo...	ORPHA:477993
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sensorineural hearing impairment, Rod-cone dystr...	OMIM:616084
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Small hand, Dilated third ventricle, Ventriculomegaly, Hearing impairment, Hydrocephalus, Hip dys...	ORPHA:500055
Au-Kline Syndrome	Chronic kidney disease, Bifid uvula, Aortic root aneurysm, Dilatation of the renal pelvis, Downtu...	OMIM:616580
Early Infantile Epileptic Encephalopathy	Ureterocele, Short finger, Broad phalanx of the toes, Ventricular septal defect, Micropenis, Clef...	ORPHA:1934
Orofaciodigital Syndrome X	Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa...	OMIM:165590
Craniopharyngioma	Optic atrophy, Hearing impairment, Vertigo, Postnatal growth retardation, Cerebral ischemia, Prop...	ORPHA:54595
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Renal hypoplasia, Alopecia, Intrauterine growth retardation, Genu valgum, Hydrocep...	OMIM:619321
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Skin Creases, Congenital Symmetric Circumferential, 2	Carious teeth, Ureterocele, Narrow mouth, Microdontia, 2-3 toe syndactyly, Thin upper lip vermili...	OMIM:616734
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Ventricular se...	OMIM:619575
Fraser Syndrome 3	Low-set ears, Short toe, Ureteral agenesis, Simple ear, Tracheal atresia, Cutaneous syndactyly, H...	OMIM:617667
Costello Syndrome	Pyloric stenosis, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Renal insufficiency, Mi...	OMIM:218040
Isolated Exencephaly	Holoprosencephaly	ORPHA:563612
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Narrow mouth, Talipes equinovarus, Short hallux, Small thenar eminence, High palate,...	OMIM:268305
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Optic atrophy, Ventriculomegaly, Single transverse palmar crease, Hirsutism, Postax...	OMIM:617527
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Rodrigues Blindness	Fine hair, Protruding ear, Microphthalmia, Short stature, Sparse hair	OMIM:268320
Raine Syndrome	Low-set ears, Highly arched eyebrow, Hydroureter, Micromelia, Long hallux, Neonatal death, Protru...	OMIM:259775
Staphylococcal Necrotizing Pneumonia	Shock, Lethargy, Hypotension	ORPHA:36238
Mgat2-Cdg	Dental crowding, Abnormal heart morphology, Open mouth, Ventricular septal defect, Brachydactyly,...	ORPHA:79329
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u...	ORPHA:2973
Holoprosencephaly 2	Holoprosencephaly, Alobar holoprosencephaly, Microphthalmia, Semilobar holoprosencephaly	OMIM:157170
Chilton-Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Sensorineural hearing impairment, Mild fetal ventriculomega...	OMIM:619841
Ring Chromosome 7 Syndrome	Short 5th finger, Slender finger, Small hand, Bifid uvula, 3-4 toe syndactyly, Genu valgum, Situs...	ORPHA:1449
C Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Micromelia, Long philtrum, Horseshoe kidney, Gingiv...	ORPHA:1308
Skin Creases, Congenital Symmetric Circumferential, 1	Long philtrum, Narrow mouth, Long fingers, Microphthalmia, High palate, Cleft palate	OMIM:156610
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Recurrent otitis media, Tricuspid regurgitation, Mitral valve prolapse, Lethargy, Pulmonary arter...	OMIM:620233
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Downturned corners of mouth, Widely spaced teeth, Elbow flexion con...	OMIM:300868
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus	ORPHA:398189
B4Galt1-Cdg	Low-set ears, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Norrie Disease	Optic atrophy, Hypoplasia of the iris, Sensorineural hearing impairment, Buphthalmos, Retinal det...	OMIM:310600
Shprintzen-Goldberg Syndrome	Low-set ears, Ventriculomegaly, Conductive hearing impairment, Elbow dislocation, Umbilical herni...	ORPHA:2462
Full Nf2-Related Schwannomatosis	Myelopathy, Bilateral vestibular schwannoma, Abnormal optic nerve morphology, Epiretinal membrane...	ORPHA:637
Cockayne Syndrome	Dry hair, Postnatal growth retardation, Microphthalmia, Urinary incontinence, Nephrotic syndrome,...	ORPHA:191
Basal Ganglia Disease, Biotin-Thiamine Responsive	Lethargy, Facial palsy	OMIM:607483
Tenorio Syndrome	Ventriculomegaly, Hypertrichosis, Thick eyebrow, Syncope, Hydrocephalus, Raynaud phenomenon, Enur...	OMIM:616260
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal dysplasia, Genu varum, Vascular tortuosity, Metaphyseal chondromatosis of ulna, Thin ...	ORPHA:99646
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Increased axial length of the globe, Everted upper lip vermilion, Widely spaced teeth, Absent cup...	ORPHA:513456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Retinal dysplasia, Occipital encephalocele, Ventriculomegaly, Optic...	OMIM:615287
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Hallermann-Streiff Syndrome	Sparse hair, Small hand, Alopecia, Sparse eyebrow, Abdominal situs inversus, Congestive heart fai...	ORPHA:2108
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Short stature, Lethargy, Alopecia of scalp, Paronychia	OMIM:201100
Axial Osteomalacia	Renal cyst	OMIM:109130
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Hip contracture, Neonatal death, Scapular winging, Bradycardia, Normal p...	OMIM:620351
Msh3-Related Attenuated Familial Adenomatous Polyposis	Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal cyst, Neoplas...	ORPHA:480536
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Hypotension, Dilated cardiomyopathy, Ketonuria, Lethargy, Apathy, Card...	ORPHA:20
Cole-Carpenter Syndrome 2	Short stature, Postnatal growth retardation, Hydrocephalus, Narrow iliac wing	OMIM:616294
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Low-molecular-weight protein...	ORPHA:18
Mogs-Cdg	Overlapping fingers, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, High palate	ORPHA:79330
Axenfeld-Rieger Syndrome, Type 2	Hearing impairment, Umbilical hernia, Abnormal heart morphology, Hydrocephalus, Hypospadias	OMIM:601499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Ventriculomegaly, Encephalocele, Hydrocephalus, Microphthalmia, Buphthalmos	OMIM:613150
Von Hippel-Lindau Disease	Cardiomyopathy, Elevated urinary catecholamine level, Stroke, Multiple renal cysts, Renal cell ca...	ORPHA:892
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular...	OMIM:261740
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Unilateral microphthalmos, Facial palsy	OMIM:615085
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Stroke, Cardiomegaly, Sinus venosus ...	ORPHA:1478
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Renal hypoplasia, Disproportionate short-limb short stature, Abnormal pelvis bone ...	ORPHA:93271
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Gastrointestinal angiodysplasia, Hematuria, Intracranial hemorrhage, Pulmo...	ORPHA:99147
Glutaric Acidemia Type 3	Glutaric aciduria, Lethargy, Ketonuria	ORPHA:35706
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Low-set ears, Ventriculomegaly, Aganglionic megacolon, Intraventricular hemorrhage, Talipes equin...	OMIM:613603
Oculoectodermal Syndrome	Bladder exstrophy, Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, ...	OMIM:600268
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Aplastic clavicle, Hypospadias, Severe short stature, Finger syndactyl...	ORPHA:2658
Cholera	Hypovolemic shock, Acute kidney injury, Hypotension, Palmoplantar cutis laxa, Lethargy, Decreased...	ORPHA:173
Leigh Syndrome	Generalized aminoaciduria, Methylmalonic aciduria, Hypertrophic cardiomyopathy, Intrauterine grow...	ORPHA:506
Mody	Nephropathy, Glycosuria, Intrauterine growth retardation, Renal cyst, Abnormality of the kidney	ORPHA:552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Ventriculomegaly, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy,...	OMIM:253280
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Conductive hearing impairment, Atresia of the external auditory canal	OMIM:123500
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Broad thumb, Lip pit, Camptodactyly of finger, Bilateral single transverse palmar ...	ORPHA:1236
Hartsfield Syndrome	Alobar holoprosencephaly, Lobar holoprosencephaly, Semilobar holoprosencephaly	OMIM:615465
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated urinary 7-hydroxyoctanoic acid level, Medium chain dicarboxylic aciduri...	OMIM:201450
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Pericarditis, Congestive heart failure	ORPHA:163596
Ectodermal Dysplasia-Blindness Syndrome	Hearing impairment, Fine hair, Abnormal fingernail morphology, Protruding ear, Microphthalmia, Sh...	ORPHA:1806
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Highly arched eyebrow, Depression, Oligosacchariduria, Umbilical hernia, Ge...	ORPHA:309282
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Congenital sensorineural hearing impairment, Microphthalmia, Short stature, Clinodactyly of the 5...	OMIM:617306
Lymphangioleiomyomatosis	Abnormal urinary color, Pulmonary lymphangiomyomatosis, Hematuria, Renal angiomyolipoma, Multiple...	ORPHA:538
Encephalitis Lethargica	Urinary incontinence, Increased CSF protein concentration, Lethargy, Bradycardia	ORPHA:83600
Whipple Disease	Hypotension, Gastrointestinal hemorrhage, Depression, Hydrocephalus, Myocarditis, Myocardial infa...	ORPHA:3452
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Cardiomyopathy, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Ne...	OMIM:130650
Maple Syrup Urine Disease, Type Ia	Lethargy, Increased level of hippuric acid in urine, Positive 2,4-dinitrophenylhydrazine urine test	OMIM:248600
Citrullinemia Type Ii	Mania, Lethargy, Enuresis, Delayed menarche	ORPHA:247585
Lymphatic Malformation 13	Long philtrum, Patent foramen ovale, Smooth philtrum, Atrial septal defect, Patent ductus arteriosus	OMIM:620244
Lymphatic Malformation 7	Pericardial effusion, Atrial septal defect, Varicose veins	OMIM:617300
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Increased CSF protein concentration, CSF lymphocytic pleiocytosis, Lethargy,...	ORPHA:68
Radial Aplasia, X-Linked	Penile hypospadias, Hydrocephalus, Absent radius	OMIM:312190
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Atrial septal defect, Bilateral renal dysplasia, Absent thumb, Downturned corners...	ORPHA:500150
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Aortic dissection, Mitral valve prolapse, Pulmonary arteriovenous malformation, Stroke, Hepatic a...	OMIM:175050
Cutis Laxa, Autosomal Recessive, Type Iid	Hypertrophic cardiomyopathy, Talipes equinovarus, Camptodactyly, Atrial septal defect, Hip dyspla...	OMIM:617403
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria, Ventriculomegaly, Subdural hemorrhage, Vertigo, Subepe...	ORPHA:25
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy, Hypotension, Decreased CSF homovanillic acid concentration	OMIM:608643
Holocarboxylase Synthetase Deficiency	Alopecia, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Lethargy, 3-hydroxyis...	OMIM:253270
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, 3-hydroxyisovaleric aciduria, Ketonuria, Elevated urinary 3-methylcrotonylglycine level	OMIM:210200
Coffin-Siris Syndrome 12	Low-set ears, Broad thumb, Small nail, Sensorineural hearing impairment, Radioulnar synostosis, H...	OMIM:619325
D-Bifunctional Protein Deficiency	Long philtrum, Renal cyst, Talipes equinovarus, Split hand, High palate, Hammertoe	OMIM:261515
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension, Growth delay, Abnormality of secondary sexual hair, Abnormal digit morphology, Polyd...	ORPHA:95494
Genetic Transient Congenital Hypothyroidism	Lethargy, Umbilical hernia	ORPHA:226316
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Hemorrhage of the eye, Tractional retinal detachme...	ORPHA:91495
Monosomy 9P	Abnormality of the dentition, Long philtrum, Abnormality of the tarsal bones, Ureteropelvic junct...	ORPHA:261112
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage 5 chronic kidney ...	OMIM:256100
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Growth delay, Renal agenesis, Ectrodacty...	OMIM:308205
Osteogenesis Imperfecta	Hearing impairment, Abnormal tibia morphology, Genu valgum, Mitral valve prolapse, Bowing of the ...	ORPHA:666
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Late-Onset Isolated Acth Deficiency	Vertigo, Lethargy, Hypotension, Orthostatic hypotension	ORPHA:199299
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Optic atrophy, Hearing impairment, Retinopathy, Hydrocephalus, Short stature	ORPHA:220295
Functioning Gonadotropic Adenoma	Abnormality of secondary sexual hair, Delayed puberty, Hydrocephalus, Oligozoospermia	ORPHA:91348
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Hydrocephalus	ORPHA:2969
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Arachnoiditis	Tinnitus, Hydrocephalus, Hearing impairment, Urinary bladder sphincter dysfunction	ORPHA:137817
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Lateral ventricle dilatation, Optic nerve compression, Femur fracture, Hydrocephal...	OMIM:612301
Ivic Syndrome	Severe short stature, Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand p...	ORPHA:2307
Argininosuccinic Aciduria	Aminoaciduria, Dry hair, Oroticaciduria, Trichorrhexis nodosa, Lethargy, Brittle hair, Elevated C...	OMIM:207900
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Ventriculomegaly, Azoospermia, Spontaneous, r...	ORPHA:2072
Proximal Spinal Muscular Atrophy	Distal upper limb muscle weakness, Elbow flexion contracture, Triceps weakness, Atrial septal def...	ORPHA:70
Autosomal Dominant Kenny-Caffey Syndrome	Growth delay, Bilateral microphthalmos, Postnatal growth retardation, Intrauterine growth retarda...	ORPHA:93325
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy	OMIM:237300
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst, Epiphyseal stippling	OMIM:614862
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Polydactyly	OMIM:616562
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anomalous origin of left subclavian artery, Abnormal heart morphology, Vesicoureteral reflux, Pat...	ORPHA:438213
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Lethargy, Increased urinary glycerol	OMIM:229700
Amelocerebrohypohidrotic Syndrome	Short stature, Hydrocephalus	ORPHA:1946
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Cubitus valgus, Thick vermilion border, Short stature, Pulmonic st...	OMIM:601321
Restrictive Dermopathy 1	Rocker bottom foot, Natal tooth, Overtubulated long bones, Intrauterine growth retardation, Narro...	OMIM:275210
Methylmalonic Aciduria, Cblb Type	Lethargy, Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria	OMIM:251110
Cole-Carpenter Syndrome	Intrauterine growth retardation, Bowing of the long bones, Short stature, Communicating hydroceph...	ORPHA:2050
Desmosterolosis	Low-set ears, Joint contracture of the hand, Rhizomelia, Cupped ear, Total anomalous pulmonary ve...	OMIM:602398
Oculopalatocerebral Syndrome	Short stature, Cleft palate, Microphthalmia	OMIM:257910
N-Acetylglutamate Synthase Deficiency	Lethargy	OMIM:237310
Ebola Hemorrhagic Fever	Lethargy, Gastrointestinal hemorrhage, Melena	ORPHA:319218
Hyperparathyroidism, Transient Neonatal	Low-set ears, Unilateral renal agenesis, Fractured rib, Ventriculomegaly, Metaphyseal spurs, Umbi...	OMIM:618188
Pierson Syndrome	Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Rieger anoma...	OMIM:609049
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Alopecia, Ketonuria, Organic aciduria, Lethargy	OMIM:210210
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hearing impairment, Chorioretinal coloboma, Genu valgum, Ventricular septal defect, Hematuria, Ta...	OMIM:619475
Culler-Jones Syndrome	Cleft upper lip, Postaxial polydactyly, Micropenis, Short stature, Cleft palate	OMIM:615849
Multiple Mitochondrial Dysfunctions Syndrome 7	Gingival overgrowth, Partial atrioventricular canal defect, Open mouth	OMIM:620423
Traboulsi Syndrome	Homocystinuria, Bifid uvula, Dental malocclusion, Broad hallux, Short finger, Arachnodactyly, Cub...	OMIM:601552
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatous colonic polyposis	OMIM:617100
Watson Syndrome	Short stature, Pulmonic stenosis	OMIM:193520
Beckwith-Wiedemann Syndrome	Nephropathy, Macroglossia, Hypertrophic cardiomyopathy, Vesicoureteral reflux, Nephroblastoma, Ne...	ORPHA:116
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Semilobar holoprosencephaly, Lobar holoprosencephaly	OMIM:618500
Johanson-Blizzard Syndrome	Ventricular septal defect, Micropenis, Atrial septal defect, Anal atresia, Rectovaginal fistula, ...	OMIM:243800
Kenny-Caffey Syndrome, Type 2	Severe short stature, Abnormality of the medullary cavity of the long bones, Thickened cortex of ...	OMIM:127000
Nephronophthisis 4	Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub...	OMIM:606966
Cirrhosis, Familial	Increased level of L-fucose in urine, Lethargy, Pulmonary arterial hypertension, Hypertension	OMIM:215600
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Severe short stature, Fibular overgrowth, Abnormal epiphysis mor...	ORPHA:93352
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Fetal Akinesia Deformation Sequence 1	Low-set ears, Slender long bone, Camptodactyly of finger, Small placenta, Ulnar deviation of the ...	OMIM:208150
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Depression, Growth delay	ORPHA:99832
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Bifid uvula, Sandal gap, Long philtrum, Ventricular septal defect, Hydronephros...	OMIM:620330
Alexander Disease	Hypotension, Depression, Sudden cardiac death, Abnormal autonomic nervous system physiology, Hydr...	ORPHA:58
Combined Immunodeficiency-Enteropathy Spectrum	Jejunoileal ulceration, Intestinal malrotation, Intrauterine growth retardation, Ventricular sept...	ORPHA:436252
Genitourinary And/Or Brain Malformation Syndrome	Holoprosencephaly	OMIM:618820
Cutis Laxa, Autosomal Dominant 1	Peripheral pulmonary artery stenosis, Long philtrum, Ventricular septal defect	OMIM:123700
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Equinus calcaneus, Thin upper lip vermilion, 2-3 toe syndactyly, Smooth philtrum, Atrial septal d...	ORPHA:522077
Gaucher Disease	Aortic valve calcification, Ventriculomegaly, Depression, Hearing impairment, Abnormal macular mo...	ORPHA:355
Neuroendocrine Neoplasm Of Appendix	Mechanical ileus, Ileal adenocarcinoma, Midgut malrotation, Adenocarcinoma of the colon, Tricuspi...	ORPHA:100079
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Clinodactyly, Small nail, Sparse eyelashes, Absent eyelashes, Talipes equinovarus, ...	OMIM:264090
Acrocephalopolydactylous Dysplasia	Micromelia, Hypoplastic colon, Postaxial hand polydactyly, Hypoplasia of the small intestine, Enl...	OMIM:200995
Basal Cell Nevus Syndrome 2	Vertigo, Palmar pits, Hydrocephalus	OMIM:620343
Proteus Syndrome	Carious teeth, Arteriovenous malformation, Finger syndactyly, Venous malformation, Open mouth, Ab...	ORPHA:744
Lymphatic Malformation 6	Intestinal lymphangiectasia, Short stature, Atrial septal defect, Varicose veins	OMIM:616843
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Hyphema, Buphthalmos, Phthisis bulbi, Remnants of the hyaloid vascular sys...	OMIM:221900
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Lethargy, Methylmalonic aciduria	OMIM:277410
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Unilateral renal agenesis, Communicating hydrocephalus, Short stature	ORPHA:1064
Icf Syndrome	Low-set ears, Communicating hydrocephalus, Short stature, Umbilical hernia	ORPHA:2268
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Chorioretinal hypopigmentation, Oroticaciduria, Lethargy, Chorioretinal atrophy	ORPHA:415
Sacral Defect With Anterior Meningocele	Urinary retention, Myelomeningocele, Myeloschisis, Neurogenic bladder, Hydrocephalus, Bilateral t...	OMIM:600145
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr...	OMIM:615751
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Joint contracture of the hand, Finger swelling, Wrist swelling, Camptodactyly of f...	OMIM:309000
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Elevated urine 3-hydroxypropionic acid level, Elevated urine 2...	OMIM:251100
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Pendred Syndrome	Nephropathy, Vertigo, Tracheal stenosis, Sensorineural hearing impairment, Enlarged vestibular aq...	ORPHA:705
Hypothyroidism, Congenital, Nongoitrous, 5	Growth delay, Patent foramen ovale	OMIM:225250
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Neurofibromatosis, Type I	Tibial pseudarthrosis, Genu valgum, Renal artery stenosis, Spina bifida, Hydrocephalus, Short sta...	OMIM:162200
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect	ORPHA:457351
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Postnatal growth retardation, Brachydactyly, Short stature, Communicating hydr...	ORPHA:168577
Isolated Posterior Meningocele	Enuresis, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube de...	ORPHA:268810
Neuromuscular Oculoauditory Syndrome	Talipes equinovarus, Wrist flexion contracture, Reduced renal corticomedullary differentiation, M...	OMIM:618733
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D...	OMIM:174000
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Renal hypoplasia/aplasia, Short s...	ORPHA:261265
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Ethylmalonic aciduria, Cardiomyopathy	OMIM:201470
Cole-Carpenter Syndrome 1	Short stature, Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff...	ORPHA:93111
Osteootohepatoenteric Syndrome	Hearing impairment, Avascular necrosis of the capital femoral epiphysis, Grade II vesicoureteral ...	OMIM:619377
Neurofibromatosis Type 1	Hearing impairment, Slender long bone, Chorioretinal coloboma, Abnormal hip bone morphology, Genu...	ORPHA:636
Immunodeficiency 96	Multicystic kidney dysplasia, Growth delay	OMIM:619774
Cryptococcosis	Abnormality of the outer ear, Abnormal optic nerve morphology, Abnormal cranial nerve morphology,...	ORPHA:1546
Lhermitte-Duclos Disease	Hand polydactyly, Hydrocephalus, Trichilemmoma	ORPHA:65285
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Hypoplasia of teeth, Microphthalmia, Micropenis, High palate, Hyp...	OMIM:603457
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Shock, Renal insufficiency, Capillary leak, Lethargy, In...	ORPHA:99826
Peroxisome Biogenesis Disorder 1B	Renal cyst, Hyperoxaluria, Epiphyseal stippling	OMIM:601539
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Tracheal stenosis, Tracheoesophageal fistula, Abnormal ca...	ORPHA:93941
Glutaric Acidemia I	Glutaric aciduria, Lateral ventricle dilatation, Ketonuria, Hydrocephalus	OMIM:231670
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Umbilical hernia, Growth delay, Bradycardia	OMIM:218700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Intrauterine growth retardation, Lethargy, 4-Hydroxyphenylpyruvic acidu...	OMIM:617156
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hydrocephalus, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Oxoglutaric Aciduria	Abnormal urine alpha-ketoglutarate concentration, Short stature, Hydrocephalus	ORPHA:31
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Tetralogy of Fallot, Ankyloglossia, Ventricular septal defect, Membranoprol...	OMIM:619525
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithi...	ORPHA:99880
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Tented philtrum, Long philtrum, Anteriorly placed anus, Renal cyst, Buphthalmos, Hypospadias, Opt...	ORPHA:495875
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Congestive heart failure, Abnormal heart morphology, Cerebral ischemia, High-output co...	ORPHA:137667
Sotos Syndrome	Hip contracture, Ventricular septal defect, Talipes equinovarus, Atrial septal defect, Large hand...	ORPHA:821
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	High palate, Growth delay, Ventricular septal defect	OMIM:619418
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatous colonic polypos...	ORPHA:220460
Large Congenital Melanocytic Nevus	Generalized hirsutism, Hydrocephalus	ORPHA:626
Parathyroid Carcinoma	Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithi...	ORPHA:143
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Facial paralysis, Hypopigmentation of the fundus, Hypoplasia of the iris, Retinal arteriolar tort...	OMIM:175780
Multiple Endocrine Neoplasia Type 1	Depression, Shortened QT interval, Cranial nerve compression, Nephrolithiasis, Lethargy, Hypercal...	ORPHA:652
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
17Q11 Microdeletion Syndrome	Hypertrophic cardiomyopathy, Abnormal heart morphology, Dilatation of the cerebral artery, Abnorm...	ORPHA:97685
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Tracheal stenosis, Mitral regurgitation, Limited elbow movement, Limb under...	OMIM:617809
Transcobalamin Ii Deficiency	Lethargy, Methylmalonic aciduria	OMIM:275350
Hereditary Fructose Intolerance	Chronic kidney disease, Lethargy, Renal insufficiency, Growth delay	ORPHA:469
Joubert Syndrome 9	Ventriculomegaly, Stage 5 chronic kidney disease, Encephalocele, Retinal dystrophy	OMIM:612285
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Nasal mucosa vasculitis, Tracheal stenosis, Retinal hemorrhage, Loca...	OMIM:608710
Tetraamelia Syndrome 1	Renal agenesis, Cleft upper lip, Hypoplastic pelvis, Urethral atresia, Microphthalmia, Anal atres...	OMIM:273395
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage, Optic nerve compression, Hydrocephalus	ORPHA:91350
Gorlin Syndrome	Palmar pits, Cardiac fibroma, Arachnodactyly, Brachydactyly, Hydrocephalus	ORPHA:377
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Lysinuric Protein Intolerance	Renal fibrosis, Hyperlysinuria, Oroticaciduria, Abnormal heart morphology, Decreased glomerular f...	ORPHA:470
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Renal cortical cysts	OMIM:609180
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Acute kidney injury, Sinus tachycardia, Oliguria, Abnormal ...	ORPHA:466650
Liver Disease, Severe Congenital	Aminoaciduria, Protein-losing enteropathy, Recurrent urinary tract infections, Hyperechogenic kid...	OMIM:619991
Glycerol Kinase Deficiency	Low-set ears, Increased urinary glycerol, Lethargy, Short stature, Growth delay	OMIM:307030
Plasminogen Deficiency, Type I	Nephritis, Ventriculomegaly, Nephrolithiasis, Hydrocephalus, Dandy-Walker malformation	OMIM:217090
Kufor-Rakeb Syndrome	Urinary incontinence, Lethargy, Apathy, Abnormal finger morphology, Bradykinesia	ORPHA:306674
Mpdu1-Cdg	Thin vermilion border, Renal cortical cysts	ORPHA:79323
Linear Nevus Sebaceus Syndrome	Ventriculomegaly, Alopecia, Microphthalmia, Growth delay, Dandy-Walker malformation	ORPHA:2612
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolit...	OMIM:600740
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Pineoblastoma	Lethargy, Papilledema, Retinoblastoma	ORPHA:251909
Mayer-Rokitansky-Kuster-Hauser Syndrome	Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,...	OMIM:277000
Beemer-Ertbruggen Syndrome	Low-set, posteriorly rotated ears, Communicating hydrocephalus	ORPHA:1237
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Low-set ears, Sparse eyebrow, Ventriculomegaly, Arachnodactyly, Large hands, Communicating hydroc...	OMIM:617011
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Semilobar holoprosencephaly	OMIM:129900
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Noncommunicating hydrocephalus	OMIM:618699
Norrie Disease	Optic atrophy, Abnormal helix morphology, Abnormal chorioretinal morphology, Hypoplasia of the ir...	ORPHA:649
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Lethargy, Renal Fanconi syndrome, Hypercalciuria, Complex organic acid...	OMIM:557000
Gaucher Disease, Type Iiic	Aortic valve calcification, Mitral stenosis, Cardiomegaly, Mitral valve calcification, Hydrocephalus	OMIM:231005
Meningioma	Tinnitus, Ear pain, Papilledema, Syncope, Hydrocephalus, Cerebral hemorrhage, Urinary incontinenc...	ORPHA:2495
Oeis Complex	Congenital hip dislocation, Hydroureter, Myelomeningocele, Hydronephrosis, Talipes equinovarus, H...	OMIM:258040
Citrullinemia, Classic	Oroticaciduria, Lethargy	OMIM:215700
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Oroticaciduria, Lethargy	OMIM:311250
Blepharophimosis, Ptosis, And Epicanthus Inversus	Highly arched eyebrow, Sparse pubic hair, Cupped ear, Microphthalmia	OMIM:110100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Downturned corners of mouth, Long philtrum, Renal cortical cysts, Vesicoureteral reflux, Thin upp...	OMIM:618548
Frontofacionasal Dysplasia	Cranium bifidum occultum, Absent inner eyelashes, Microphthalmia	OMIM:229400
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Conductive hearing impairment, Hip contracture, Anonychia, Hydrocephalus, Narrow iliac wing, Shor...	ORPHA:3042
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hyperphos...	OMIM:229600
Xeroderma Pigmentosum, Complementation Group D	Telangiectasia, Microphthalmia, Corneal neovascularization, Sensorineural hearing impairment	OMIM:278730
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Sparse eyebrow, Ventriculomegaly, Low-set, posteriorly rotated ears, Arachnodactyly, Broad eyebro...	ORPHA:457359
Jung Syndrome	Low posterior hairline, Tracheal stenosis	ORPHA:2321
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Horseshoe kidney, Abnormality of the ureter, Abnorma...	ORPHA:322
Von Hippel-Lindau Syndrome	Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma	OMIM:193300
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Acute kidney injury, Pulmonary embolism, Glycosuria, Budd-Chiari syndrome...	ORPHA:447
Retinitis Pigmentosa	Optic atrophy, Conductive hearing impairment, Attenuation of retinal blood vessels, Abnormality o...	ORPHA:791
Choanal Atresia	Polydactyly	ORPHA:137914
Mounier-Kühn Syndrome	Tracheal stenosis	ORPHA:3347
Congenital Respiratory-Biliary Fistula	Tracheal stenosis	ORPHA:2040
Pmm2-Cdg	Long philtrum, Hypertrophic cardiomyopathy, Proteinuria, Thin upper lip vermilion, Abnormal renal...	ORPHA:79318
Isolated Arrhinia	Tessier cleft, Microphthalmia	ORPHA:1134
Tracheobronchopathia Osteochondroplastica	Tracheal stenosis	ORPHA:3348
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Hypoplasminogenemia	Abnormality of the middle ear, Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis	ORPHA:722
Glycine Encephalopathy	Lethargy	ORPHA:407
Igg4-Related Thyroid Disease	Tracheal stenosis	ORPHA:64744
Retinitis Pigmentosa 93	Retinal dots, Rod-cone dystrophy	OMIM:619845

Histopathology

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

There is no histopathology data for Cc2d2a

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Cc2d2a.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Detailed characterizations of cranial nerve anatomy in E14.5 mouse embryos/fetuses and their use as reference for diagnosing subtle, but potentially lethal malformations in mutants.	Frontiers in cell and developmental biology (November 2022)	Cc2d2a^{tm1a(EUCOMM)Wtsi}	PMC9682249
Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.	Genes (November 2021)	Cc2d2a^{tm1a(EUCOMM)Wtsi}	PMC8623546
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Cc2d2a^{tm1a(EUCOMM)Wtsi}	PMC7263671
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.	Cells (April 2020)	Cc2d2a^{tm1c(EUCOMM)Wtsi}	32290105
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Cc2d2a^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Cc2d2a^{tm1a(EUCOMM)Wtsi}	PMC6459510
Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone.	FASEB journal : official publication of the Federation of American Societies for Experimental Biology (August 2018)	Cc2d2a^{tm1c(EUCOMM)Wtsi} Cc2d2a^{tm1a(EUCOMM)Wtsi}	30133325

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Cc2d2a^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cc2d2a^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Cc2d2a^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cc2d2a^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cc2d2a^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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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