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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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Viewing: all phenotypes

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 (2259 diseases)

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

Disease	Matching phenotypes	Source
Meckel Syndrome	Encephalocele, Ureteral duplication, Bowing of the long bones, Anophthalmia, Abnormal chorioretin...	ORPHA:564
Joubert Syndrome With Oculorenal Defect	Encephalocele, Low-set, posteriorly rotated ears, Renal insufficiency, Retinal dystrophy, Agangli...	ORPHA:2318
Meckel Syndrome, Type 6	Cleft upper lip, Postaxial hand polydactyly, Renal cyst, Horseshoe kidney, Cleft palate, Postaxia...	OMIM:612284
Coach Syndrome 2	Hypertension, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Highly arched eyebrow...	ORPHA:1454
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, S...	ORPHA:791
Joubert Syndrome 9	Encephalocele, Retinal dystrophy, Stage 5 chronic kidney disease, Ventriculomegaly	OMIM:612285
Retinitis Pigmentosa 93	Rod-cone dystrophy, Retinal dots	OMIM:619845

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

Disease	Matching phenotypes	Source
Gombo Syndrome	Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodact...	OMIM:233270
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnor...	ORPHA:294975
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Cleft palate, Renal cyst, Right aortic a...	OMIM:231060
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Limited elbow extension and supination, Brachydactyly, Ventricular sept...	ORPHA:401935
Heterotaxy, Visceral, 7, Autosomal	Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo...	OMIM:616749
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Cleft p...	ORPHA:2516
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal...	OMIM:614779
Cardioacrofacial Dysplasia 2	Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common atrium, Deep philtrum,...	OMIM:619143
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Verheij Syndrome	Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Short stature, Renal...	OMIM:615583
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Truncus arteriosus, Short dis...	OMIM:601355
Meckel Syndrome, Type 8	Anophthalmia, Cleft upper lip, Pericardial effusion, Cleft palate, Polydactyly, Talipes equinovar...	OMIM:613885
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ...	ORPHA:210122
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac...	OMIM:217085
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping fingers, Hypoplastic right heart, Ventricular septal def...	OMIM:618142
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Postaxi...	OMIM:619142
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Short stature, Cleft palate, Intrauterine growth retardation, Truncus a...	OMIM:611867
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery...	OMIM:619702
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Renal agenesis, Cleft upper lip, Complete atrioventricul...	OMIM:264480
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa...	OMIM:306955
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft p...	OMIM:615524
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Ventricul...	ORPHA:2008
Chime Syndrome	Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Abnormality of the kidney, A...	ORPHA:3474
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t...	OMIM:618845
Mmep Syndrome	Median cleft lip, Ventricular septal defect, Orofacial cleft, Split foot, Triphalangeal thumb, Mi...	ORPHA:3434
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Robinow Syndrome	Dental crowding, Orofacial cleft, Atrial septal defect, Webbed penis, Micropenis, Syndactyly, Mul...	ORPHA:97360
Adams-Oliver Syndrome 4	Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ...	OMIM:615297
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Tru...	OMIM:616589
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Hypospadias, Double outlet right ventricle, Cleft palate, ...	OMIM:220210
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Short stature, Patent ductus arteriosus, Hand polydactyly, Everted low...	OMIM:249670
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Postnatal grow...	OMIM:179613
Distal Deletion 19P	Long toe, Ventricular septal defect, Arachnodactyly, Cleft palate, Short philtrum, Tricuspid valv...	ORPHA:96129
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Abnormality of the kidn...	ORPHA:363444
Sandestig-Stefanova Syndrome	Bilateral single transverse palmar creases, Rocker bottom foot, Muscular ventricular septal defec...	OMIM:618804
Trisomy 13	Median cleft lip, Ventricular septal defect, Anophthalmia, Bilateral single transverse palmar cre...	ORPHA:3378
Double Outlet Right Ventricle	Ventricular septal defect, Intestinal malrotation, Short stature, Submucous cleft hard palate, Do...	ORPHA:3426
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microphthalmia, Syndromic 9	Anophthalmia, Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Single ventricle, Sh...	OMIM:601186
Eng-Strom Syndrome	Ventricular septal defect, Camptodactyly of finger, Short stature, Abnormal cardiac septum morpho...	ORPHA:1937
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Brachydactyly, Short stature, Single transverse palmar crease, Muscular ventricular septal defect...	OMIM:620062
Sonoda Syndrome	High axial triradius, Ventricular septal defect, Short stature, Narrow mouth	OMIM:270460
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Cleft lip, Patent ductus arteriosus, Dilated ca...	OMIM:619343
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec...	OMIM:265380
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Trisomy 17P	Hypoplasia of penis, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Short stature,...	ORPHA:261290
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport...	ORPHA:1354
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Joubert Syndrome 18	Trident pelvis, Bowing of the long bones, Ventricular septal defect, Postaxial polydactyly, Renal...	OMIM:614815
Down Syndrome	Single transverse palmar crease, Short palm, Hypoplastic iliac wing, Atrial septal defect, Atriov...	OMIM:190685
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial...	OMIM:608978
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Short stature, Renal hypoplasia/aplasia, Cleft palate, Tooth agenesis,...	ORPHA:1166
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Prominent fingertip pads, Sandal gap, High, narrow palate, Patent ductu...	OMIM:612863
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormal finger morphology, Atrial septal defect, Phocomelia, Microgastria, Multicy...	ORPHA:2538
Feingold Syndrome 2	Ventricular septal defect, Short stature, Postnatal growth retardation, Short middle phalanx of t...	OMIM:614326
8P23.1 Duplication Syndrome	Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtr...	ORPHA:251076
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary veno...	OMIM:617478
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypoplasti...	ORPHA:3316
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Atrial septal defect, Toe syndactyly, Ventricular septal defect, Intestinal malrotation, Dextroca...	OMIM:619657
Feingold Syndrome Type 1	Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Vesicoureteral reflux, Ne...	ORPHA:391641
Feingold Syndrome Type 2	Toe syndactyly, Ventricular septal defect, Jejunal atresia, Short stature, Short thumb, Short mid...	ORPHA:391646
Megabladder, Congenital	Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non...	OMIM:618719
Emanuel Syndrome	Recurrent urinary tract infections, Congenital hip dislocation, Dental crowding, Intestinal malro...	OMIM:609029
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Hepatic cysts, Situs inversus totalis, Femoral bowing, Aortic valve stenosis,...	OMIM:615415
Cardiac Valvular Dysplasia 1	Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s...	OMIM:212093
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Short stature, Esophageal atresia, Pulmonary artery stenosis, Tracheoe...	OMIM:301030
Catel-Manzke Syndrome	Ventricular septal defect, Short stature, Camptodactyly of finger, Metatarsus valgus, Radial devi...	ORPHA:1388
Meckel Syndrome, Type 4	Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Renal cyst, Clef...	OMIM:611134
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Absent thumb, Short thumb, Patent d...	OMIM:617516
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormal heart valve morphology, Dental crowding, Abnormality of the dentition, Disproportionate ...	ORPHA:2868
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricu...	OMIM:615996
Orofaciodigital Syndrome Xviii	Brachydactyly, Short stature, Urinary incontinence, Accessory oral frenulum, Single transverse pa...	OMIM:617927
Holzgreve Syndrome	Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic le...	OMIM:236110
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate	OMIM:261800
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosenceph...	OMIM:609637
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu...	OMIM:617063
Tricuspid Atresia	Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
Microcephaly-Cardiomyopathy Syndrome	Ventricular septal defect, Short stature, Sandal gap, High, narrow palate, Dilated cardiomyopathy...	ORPHA:2515
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Short stature, Urinary incontinence, Rocker bottom foot, Tapered finger, Carious teeth, Pericardi...	OMIM:620070
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney...	OMIM:173900
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Parachute mi...	OMIM:618316
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure...	OMIM:607323
Birk-Aharoni Syndrome	Duplicated collecting system, Muscular ventricular septal defect, Micropenis	OMIM:620071
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, High palate, Atrial septal defect, Micropenis, Bifid...	ORPHA:96170
Trisomy 1Q	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Arachnodactyly, Toe syndac...	ORPHA:261344
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Postaxial polydactyly, Cleft lip, Comp...	OMIM:617925
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Narrow mouth, Atrial septal defect,...	ORPHA:3469
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Dental crowding, Urinary incontinence, Abnormality of the hand, Abnormality of the de...	ORPHA:476126
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia...	OMIM:206920
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Monosomy 13Q34	Fetal pyelectasis, Postaxial hand polydactyly, Growth delay, Postaxial foot polydactyly, Pulmonic...	ORPHA:96168
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Patent ductus arteri...	ORPHA:3304
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Hip dislocation, Wide mouth, Abnormal cardiac septum morphology, Polycystic...	OMIM:608776
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dil...	ORPHA:314588
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology	ORPHA:1208
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu...	OMIM:263630
Mckusick-Kaufman Syndrome	Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ...	ORPHA:2473
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac...	OMIM:314390
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Short stat...	ORPHA:261330
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Short stature, Renal hypoplasia/aplasia, Long penis, Cleft...	ORPHA:1988
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Fanconi Anemia, Complementation Group O	Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Rectal atresia, Hypoplasia...	OMIM:613390
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgene...	ORPHA:3033
Hamamy Syndrome	Long toe, Thin upper lip vermilion, Syndactyly, Down-sloping shoulders, Tapered finger, Complete ...	OMIM:611174
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, San...	ORPHA:477817
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral renal hypoplas...	ORPHA:508488
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Joubert Syndrome 15	Retinal dystrophy, Preaxial polydactyly, Exencephaly, Nephronophthisis, Micropenis, Retinopathy	OMIM:614464
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Short stature, Distal urethral duplication, Renal hypoplasia/apl...	ORPHA:2549
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Growth delay, Short foot, Aplasia...	ORPHA:52056
Microhydranencephaly, X-Linked	Holoprosencephaly	OMIM:306990
Biemond Syndrome Type 2	Short stature, Hypospadias, Hydrocephalus, Preaxial polydactyly, Delayed puberty, Microphthalmia	ORPHA:141333
Phenobarbital Embryopathy	Hypospadias, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal mitral valve morpholog...	ORPHA:1919
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly...	OMIM:614091
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,...	ORPHA:508498
Maternal Phenylketonuria	Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Clinodactyly, A...	ORPHA:2209
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micropenis, Short stature, Humeroradial synostos...	OMIM:134780
Tetralogy Of Fallot	Thin vermilion border, Clinodactyly of the 5th finger, Intrauterine growth retardation, Tetralogy...	ORPHA:3303
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me...	OMIM:184260
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Esophageal atresia, Pa...	ORPHA:77298
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Orofaciodigital Syndrome Xvii	Median cleft lip, Short stature, Short middle phalanx of the 2nd finger, High, narrow palate, Cen...	OMIM:617926
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ...	ORPHA:2712
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary ...	OMIM:270100
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Clinodactyly, Pie...	OMIM:619980
Faciocardiorenal Syndrome	Narrow mouth, Cleft palate, Horseshoe kidney, Hypodontia, Tricuspid valve prolapse, Endocardial f...	ORPHA:1973
Heart Defects, Congenital, And Other Congenital Anomalies	Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept...	OMIM:600001
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St...	OMIM:613095
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Vesicoureteral reflux, Pulmonary artery atresia, Micropenis, Hypospadias, Short stature, Postaxia...	OMIM:301056
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Ventricular septal defect, Deep philtr...	ORPHA:261120
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Metaphyseal widening, Abnormal heart morphology, Short long bone, Na...	OMIM:263210
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:277740
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ...	ORPHA:261243
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Short stature, Thick lower lip vermilion, Ren...	OMIM:612946
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Hydrolethalus Syndrome 1	Median cleft lip, Hypospadias, Ventricular septal defect, Complete atrioventricular canal defect,...	OMIM:236680
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Prominent fingertip pads, Overlapping fingers, Ventricular septal defec...	OMIM:618494
Houge-Janssens Syndrome 3	Single transverse palmar crease, Muscular ventricular septal defect, High palate, Short philtrum,...	OMIM:618354
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Short stature, Sandal gap, Long philtrum, Atrial septal defect, Micropht...	OMIM:300887
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Oculocerebrocutaneous Syndrome	Alopecia, Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Microp...	OMIM:164180
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia...	OMIM:263520
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Cubitus valgus, Metatarsus adductus, Cleft palate, Abnormal hear...	OMIM:214110
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Leopard Syndrome 1	Scapular winging, Hypospadias, Short stature, Unilateral renal agenesis, Limited elbow movement, ...	OMIM:151100
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Ventricular septal defect, Polysyndactyly of hallux, Aganglionic megac...	OMIM:235750
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Short stature, Renal agenesis, Hamartoma of tongue, Renal hypo...	ORPHA:2754
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Holoprosencephaly	OMIM:617967
Nemaline Myopathy 9	Ventricular septal defect, High palate, Cleft palate	OMIM:615731
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Short thumb, Patent ductus a...	OMIM:612561
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly	OMIM:300706
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Polydactyly, Microphthalmia, Nephroblastoma, Smooth philtrum	OMIM:602501
Czeizel-Losonci Syndrome	Single transverse palmar crease, Spina bifida occulta, Prominent antitragus, Low-set, posteriorly...	ORPHA:2437
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Arachnodactyly, Minimal chan...	OMIM:616730
Mosaic Trisomy 20	Ventricular septal defect, Abnormality of the kidney, Down-sloping shoulders, Cleft lip, Dysplast...	ORPHA:1724
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Cat Eye Syndrome	Vesicoureteral reflux, Atrial septal defect, Short stature, Patent ductus arteriosus, Total anoma...	OMIM:115470
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Mosaic Trisomy 1	Single transverse palmar crease, Orofacial cleft, Renal cyst, Finger clinodactyly, Pulmonary arte...	ORPHA:1692
Kapur-Toriello Syndrome	Overlapping fingers, Ventricular septal defect, Intestinal malrotation, Single transverse palmar ...	OMIM:244300
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect, Tongue fasciculations	OMIM:253300
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Polyuria, Mesoaxial hand polydactyl...	OMIM:615994
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Abnormal ao...	ORPHA:1596
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Syndactyly, Short stature, Hamartoma of tongue, Cleft upper lip, S...	OMIM:311200
Holt-Oram Syndrome	Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o...	ORPHA:392
Temple-Baraitser Syndrome	Broad hallux, Proximal placement of thumb, Adducted thumb, Downturned corners of mouth, Wide mout...	OMIM:611816
3C Syndrome	Hypoplasia of penis, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, A...	ORPHA:7
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Prune Belly Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Intestinal malrotat...	ORPHA:2970
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus, Deep philtr...	OMIM:619717
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Abnormal metacarpal morphology, Abnormal pelvic girdle bone morphology, Abnormal c...	ORPHA:2370
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Postaxial hand polydactyly, Abnormal localization of kidney, Abnormal ...	ORPHA:83473
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, S...	OMIM:613091
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Single transverse palmar crease, High palate, Short stature, Arachno...	OMIM:618348
Sotos Syndrome	Atrial septal defect, Ventricular septal defect, Abnormality of the kidney, High, narrow palate, ...	OMIM:117550
Cardiac-Urogenital Syndrome	Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos...	OMIM:618280
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Atrial septal defect, M...	ORPHA:289
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal bones, Anodonti...	ORPHA:90652
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Santos Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu...	OMIM:613005
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia...	OMIM:619879
Li-Campeau Syndrome	Ventricular septal defect, Short stature, Single transverse palmar crease, Patent ductus arterios...	OMIM:619189
Methylmalonic Acidemia With Homocystinuria	Lethargy, Hydrocephalus, Retinopathy	ORPHA:26
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventricular septal d...	OMIM:220500
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Short stature, Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Muscular ventricula...	OMIM:619227
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, High, narrow palate, Deep philtrum, Downturned corners of mouth, Sho...	ORPHA:435638
Dislocation Of The Hip-Dysmorphism Syndrome	Congenital hip dislocation, Patent ductus arteriosus, Deviation of finger, Abnormal cardiac septu...	ORPHA:2412
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal hair morphology, Preaxial polydactyly, ...	ORPHA:64754
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Growth delay, Uraciluria, Microphthalmia, Lethargy	OMIM:274270
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contr...	OMIM:300166
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ...	ORPHA:439
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis	OMIM:178651
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Short stature, Coronal hypospadias, Short toe, Cleft palate, Abnorma...	ORPHA:921
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,...	ORPHA:261272
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnormality of the palmar crea...	OMIM:618652
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, High palate, Transposition of the great arteries, Atrial ...	ORPHA:1913
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Aortic ro...	OMIM:616652
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Short stature, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, ...	ORPHA:3098
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Ventricular septal defect, Epiphyseal stippling	OMIM:614876
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left...	OMIM:605376
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Ventricular septal defect, Rhizomelia, Proximal placement of thumb, Dow...	ORPHA:93267
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split hand, Intri...	OMIM:618569
Fryns Microphthalmia Syndrome	Anophthalmia, Abnormality of the ear, Neural tube defect, Microphthalmia, Macrotia	OMIM:600776
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
Gillespie Syndrome	Hypoplasia of the iris, Truncus arteriosus, Aniridia	OMIM:206700
Bardet-Biedl Syndrome 10	Renal insufficiency, Polydactyly, Renal cyst	OMIM:615987
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S...	OMIM:608227
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Short stature, Renal hypopl...	ORPHA:2863
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Tetralogy of Fallot	OMIM:187500
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Micromelia, Cryptorchidism, Postaxial hand polyd...	ORPHA:2189
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly	OMIM:615938
Frontonasal Dysplasia 1	Median cleft lip, Postaxial hand polydactyly, Widely-spaced maxillary central incisors, Pectoral ...	OMIM:136760
Frank-Ter Haar Syndrome	Abnormally large globe, Secundum atrial septal defect, High palate, Short palm, Atrial septal def...	OMIM:249420
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving ...	ORPHA:371428
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Short stature, Overlapping toe, Postaxial polydactyly, Tapered finger, ...	OMIM:613792
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Paten...	ORPHA:1120
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Genu valgum, Anal atresia, Tetr...	ORPHA:1381
Bardet-Biedl Syndrome 16	Renal insufficiency, Short stature, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, P...	OMIM:615993
Congenital Tricuspid Valve Dysplasia	Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a...	ORPHA:555874
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Short stature, Patent ductus ar...	OMIM:618330
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Ventricular septal defect	ORPHA:1918
Meckel Syndrome, Type 1	Lobulated tongue, Syndactyly, Cleft upper lip, Patent ductus arteriosus, Postaxial foot polydacty...	OMIM:249000
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Anteriorly placed anus, Micropenis, Distal shortening of limbs, Synda...	OMIM:146510
Vater/Vacterl Association	Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thumb, Vesicoureteral reflux,...	OMIM:192350
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, A...	OMIM:201000
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypopl...	ORPHA:94066
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Proteinuria, Abnormal palmar dermatoglyphics, Postnatal growth retardation,...	ORPHA:2728
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Short stature, Postaxial polydactyly, Preaxial polydactyly...	OMIM:615503
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Short stature, B...	OMIM:600987
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Intellectual Developmental Disorder, Autosomal Recessive 79	Thin upper lip vermilion, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of ...	OMIM:620393
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia...	ORPHA:899
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Joubert Syndrome 39	Postaxial polydactyly, Hypoplastic left heart, Joint contracture of the 5th finger, Polycystic ki...	OMIM:619562
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Accessory oral frenulum, Micromelia, Aplastic clavicle, Postaxial polydactyl...	OMIM:616546
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Polycystic kidney dysplasia, Vascular dilatation	OMIM:614859
Hartsfield Syndrome	Encephalocele, Microphthalmia, Lobar holoprosencephaly	ORPHA:2117
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Congenital Rubella Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Aplasia/Hypoplasia of the iri...	ORPHA:290
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Chromosome 18Q Deletion Syndrome	Proximal placement of thumb, Downturned corners of mouth, Short philtrum, Atrial septal defect, M...	OMIM:601808
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Oligodontia, Prominent palatine ridges, Cau...	OMIM:272950
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
8Q12 Microduplication Syndrome	Ventricular septal defect, Narrow mouth, Vesicoureteral reflux, Short foot, Everted lower lip ver...	ORPHA:228399
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias	OMIM:615542
Joubert Syndrome 14	Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Cleft palate, Renal...	OMIM:614424
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Short stature, Absent thumb, Short thumb, Shor...	OMIM:609053
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long toe, Tapered toe, Long-chain dic...	OMIM:608836
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Pancreatic cy...	OMIM:208540
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Short stature, Proximal placement of thumb, Tapered finger, Pa...	ORPHA:251071
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Cleft palate, Talipes equinovarus, Microphthalmia, Intrauterine growth retard...	OMIM:616570
Floating-Harbor Syndrome	Renal cyst, Nephrocalcinosis, Oligodontia, Humeral pseudarthrosis, Short philtrum, Atrial septal ...	ORPHA:2044
Lowry-Maclean Syndrome	Delayed eruption of teeth, Intrauterine growth retardation, Cleft palate, Abnormal heart morphology	OMIM:600252
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ...	OMIM:115197
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Muscular ventricular septal defect, Dilated cardiomyopathy, Perineal hypospa...	ORPHA:66634
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Dental malocclusi...	OMIM:606232
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Rh...	OMIM:616300
Alg12-Cdg	Thin upper lip vermilion, Overlapping fingers, Hypospadias, Intestinal malrotation, Sandal gap, U...	ORPHA:79324
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short stature, Short metatarsal, Atrial septal defect, Short 4th metacarpal, Type E brachydactyly	OMIM:113301
Filippi Syndrome	Ventricular septal defect, Single transverse palmar crease, Postnatal growth retardation, 2-4 toe...	OMIM:272440
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Polydactyly, Attenuation of retinal ...	OMIM:615990
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma	OMIM:616428
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, High, narrow palate, Aplasia/Hypoplasia of the m...	ORPHA:96149
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Thick lower lip vermi...	OMIM:619103
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Ren...	ORPHA:139466
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Non-midline cleft lip, Postaxial hand polydactyly, Cle...	ORPHA:2075
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Macular dystrophy, Micropenis, Rod-cone dystrophy, Brachydactyly	OMIM:615983
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly	OMIM:615937
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P...	OMIM:175700
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Increased overbite,...	OMIM:618504
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hand monodactyly, A...	OMIM:214800
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Finger clinodactyly, High palate, Endocardial fibroelastosis, At...	ORPHA:99776
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Gastritis, Ventricular septal defect, Short stature, Pate...	ORPHA:84064
Burn-Mckeown Syndrome	Ventricular septal defect, Short stature, Unilateral renal agenesis, Cleft upper lip, Renal hypop...	OMIM:608572
Weill-Marchesani Syndrome	Short stature, Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, ...	ORPHA:3449
22Q11.2 Deletion Syndrome	Abnormal aortic arch morphology, Short philtrum, Atrial septal defect, Vesicoureteral reflux, Hyp...	ORPHA:567
Noonan Syndrome 11	Short stature, Thick vermilion border, Pulmonic stenosis, Palmoplantar cutis laxa, Atrial septal ...	OMIM:618499
Renpenning Syndrome	Severe short stature, Macrodontia, Hypospadias, Abnormal thumb morphology, High, narrow palate, C...	ORPHA:3242
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Single transverse palmar crease, Widely spaced teeth, High palate, Atrial ...	OMIM:612474
Microphthalmia With Limb Anomalies	Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodac...	ORPHA:1106
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Prominent fingertip pads, Tapered finger, High, narrow palate, 2-3 toe syndactyly,...	ORPHA:485405
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypospadias, Renal dysplasia, Postaxial polydactyly	OMIM:615985
Hajdu-Cheney Syndrome	Ventricular septal defect, Intestinal malrotation, Hypospadias, Short stature, Patent ductus arte...	OMIM:102500
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Cleft palate, Abnormal...	ORPHA:1926
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Cardiomyopathy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in u...	ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrau...	OMIM:620135
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha...	OMIM:113000
Kallmann Syndrome-Heart Disease Syndrome	Short lingual frenulum, Short stature, Renal agenesis, Anomalous origin of left coronary artery f...	ORPHA:2326
Rhizomelic Syndrome	Rhizomelia, Short stature, Bifid distal phalanx of the thumb, Hip dislocation, Pulmonic stenosis,...	OMIM:268250
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t...	ORPHA:3103
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Clinodactyly of the 5th finger, Intrauterine growth retardation, Cleft palate, Abnormal heart mor...	ORPHA:231147
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Polydactyly, Bra...	OMIM:615982
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Intrauterine growth ...	OMIM:616276
Beta-Mercaptolactate Cysteine Disulfiduria	Short stature, Arachnodactyly, Micromelia, Sandal gap, Abnormality of the ureter, Genu valgum, Hi...	ORPHA:1035
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia, Broad thumb, Smooth ...	OMIM:614526
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Short stature, Abnormal cardiac septum morphology, Short middle phalanx of finger, T...	OMIM:612626
Vissers-Bodmer Syndrome	Holoprosencephaly	OMIM:619033
Bresek Syndrome	Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Hearing impairment, Cryptorchidism, Post...	ORPHA:85284
Faciocardiomelic Syndrome	Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtru...	OMIM:612731
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, Renal hypoplasia, 2-3 toe syndactyly, Small thenar eminence, Joint con...	OMIM:618914
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Unilateral renal agenesis, 2-3 toe syndactyly, Growth delay, High pala...	ORPHA:3306
Lambert Syndrome	Wide mouth, Intrauterine growth retardation, Ventricular septal defect, Hypospadias	ORPHA:1296
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Pierre-Robin sequence, Downturned corners of mouth, Hip dyspl...	OMIM:611961
Suleiman-El-Hattab Syndrome	Thin upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Thick lower...	OMIM:618950
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Hand polydactyly, Patent ductus arteriosus, ...	ORPHA:250989
Tyshchenko Syndrome	Ventricular septal defect, Short stature, High, narrow palate, Cleft palate, Narrow palate, High ...	OMIM:615102
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Short stature, Bilateral microphthalmos, Unilateral microphthalmos, Horses...	OMIM:619318
Polyvalvular Heart Disease Syndrome	Dental crowding, Abnormal heart valve morphology, Short stature, Mitral valve prolapse, High pala...	ORPHA:228410
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Cleft lip, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, ...	OMIM:619123
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Brachydactyly, Ventricular septal defect, Abnormality of the philtrum, Short stature, Renal hypop...	ORPHA:1770
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Ventricular septal defect, Short stature, Tarsal synostosis, Muscular ventricu...	OMIM:157800
Congenital Heart Defects And Ectodermal Dysplasia	Premature loss of primary teeth, 2-3 toe cutaneous syndactyly, Widely spaced teeth, Microdontia, ...	OMIM:617364
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Retinal dystrophy, Proximal placement of thumb, Cryptorchidism, ...	ORPHA:139471
Joubert Syndrome With Ocular Defect	Encephalocele, Low-set, posteriorly rotated ears, Retinal dystrophy, Aganglionic megacolon, Highl...	ORPHA:220493
Transketolase Deficiency	Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P...	ORPHA:488618
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac...	OMIM:615981
Bifid Nose With Or Without Anorectal And Renal Anomalies	Short lingual frenulum, Renal agenesis, Unilateral renal agenesis, Ebstein anomaly of the tricusp...	OMIM:608980
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve, Bifid uvula, Cleft palate, Cleft upper lip	OMIM:300958
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Lambotte Syndrome	Intrauterine growth retardation, Ventricular septal defect, Preaxial foot polydactyly, Narrow mouth	OMIM:245552
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Kabuki Syndrome 2	Natal tooth, Prominent fingertip pads, Short stature, Postnatal growth retardation, Lower lip pit...	OMIM:300867
1Q21.1 Microduplication Syndrome	Hypospadias, Hip dislocation, Hip dysplasia, Talipes equinovarus, Tetralogy of Fallot	ORPHA:250994
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ...	ORPHA:40366
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Short stature, Pulmonary artery stenosis, Postaxial hand polydactyly, ...	ORPHA:75389
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus, Abnormality of the ear	OMIM:600257
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,...	ORPHA:2328
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Sparse body hair, Alopecia univers...	ORPHA:1008
Fryns Syndrome	Tented upper lip vermilion, Abnormal aortic arch morphology, High palate, Vesicoureteral reflux, ...	ORPHA:2059
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl...	ORPHA:404440
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Marden-Walker Syndrome	Hypospadias, Dextrocardia, Arachnodactyly, Postnatal growth retardation, High, narrow palate, Pyl...	OMIM:248700
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly, High palate, Widely spaced teeth, ...	ORPHA:66625
Vacterl With Hydrocephalus	Anophthalmia, Microtia, third degree, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocep...	ORPHA:3412
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Ventricular septal defect, Ham...	OMIM:174300
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Microphthalmia, Ventriculomegaly	ORPHA:324416
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Paternal Uniparental Disomy Of Chromosome 5	Abnormally large globe, Secundum atrial septal defect, Rhizomelic arm shortening, Abnormal fibula...	ORPHA:96190
Complete Atrioventricular Septal Defect	Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o...	ORPHA:1329
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Coffin-Siris Syndrome 5	Thin upper lip vermilion, Short stature, Arachnodactyly, Sandal gap, Thick lower lip vermilion, W...	OMIM:616938
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Short stature, Cleft lip, Cleft palate, Coarctation of aorta, Submucous...	OMIM:301022
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Intestinal malrotation,...	OMIM:617866
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ...	OMIM:620032
Mucolipidosis Type Iii	Abnormal heart valve morphology, Short stature, Cleft palate, Abnormal aortic valve morphology, A...	ORPHA:577
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri...	OMIM:619534
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Optic atrophy, Small hand, Low-set ears	OMIM:300884
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Dynein arm defect of respiratory mo...	OMIM:614679
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect, Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed erupt...	OMIM:618506
Tetrasomy 15Q26	Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High palate,...	OMIM:614846
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Short thumb...	OMIM:618821
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Cleft palate, Growth delay, Hypoplastic left heart,...	ORPHA:1727
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Downturned corners of mouth...	OMIM:618974
Vitamin K Antagonist Embryofetopathy	Hearing impairment, Myelomeningocele, Hydrocephalus, Optic atrophy, Epiphyseal stippling, Microti...	ORPHA:1914
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Short thumb,...	OMIM:612562
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total...	ORPHA:244
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Roifman Syndrome	Thin upper lip vermilion, Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defe...	OMIM:616651
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal gro...	ORPHA:3369
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Short stature, Interphalangeal joint contracture of finger, Preaxial ha...	OMIM:606242
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, O...	ORPHA:1528
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth...	ORPHA:2919
Peroxisome Biogenesis Disorder 5A (Zellweger)	Ventricular septal defect, Hypospadias, Single transverse palmar crease, Metatarsus adductus, Cub...	OMIM:614866
Noonan Syndrome 3	Ventricular septal defect, Short stature, Patent ductus arteriosus, Mitral valve prolapse, High p...	OMIM:609942
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double outlet right ventricle, Supravalva...	OMIM:618164
Ciliary Dyskinesia, Primary, 12	Situs inversus totalis, Short stature, Chronic otitis media, Abnormal central microtubular pair m...	OMIM:612650
Meckel Syndrome	Encephalocele, Ureteral duplication, Bowing of the long bones, Anophthalmia, Abnormal chorioretin...	ORPHA:564
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Patent ductus arteriosus, Renal tubular dysfunction, Growth delay, Atrial septal d...	OMIM:614886
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Short stature, Coxa valga, Carious teeth, Hypoplasia of teeth, Genu valgum, Pu...	OMIM:613312
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-brown urine, R...	ORPHA:228308
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Sh...	ORPHA:1507
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus, Hypoplasia of the...	ORPHA:1972
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Dislocated radial head, Syndactyly...	ORPHA:2839
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Short stature, Macular atrophy, Optic atrophy, Talipes equinovarus, Microphtha...	OMIM:616171
Char Syndrome	Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand polydactyly...	ORPHA:46627
Intellectual Developmental Disorder, Autosomal Dominant 21	Short stature, Single transverse palmar crease, Narrow mouth, Patent ductus arteriosus, Cleft pal...	OMIM:615502
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia affecting the eye, Anencephaly, Holoprosencephaly	ORPHA:1590
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota...	ORPHA:2255
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ...	ORPHA:3320
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Dental crowding, Short stature, Sandal gap, Short toe, Pierre-Robin seq...	OMIM:617877
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Brachydactyly, Short stature, Ventricular septal defect, Metaphy...	ORPHA:166035
Bardet-Biedl Syndrome 14	Renal insufficiency, Rod-cone dystrophy, Polydactyly	OMIM:615991
Fetal Encasement Syndrome	Upper limb undergrowth, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Low...	OMIM:613630
Warsaw Breakage Syndrome	Ventricular septal defect, Single transverse palmar crease, Postnatal growth retardation, 2-3 toe...	OMIM:613398
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Ureteral stenosis, Hypoplastic scapulae, Coxa valga, Fl...	OMIM:309350
Cat-Eye Syndrome	Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hip dysplasia, Micropht...	ORPHA:195
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hall...	OMIM:212780
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Spina bifida, Aplasia/Hypoplasia of the earlobes...	ORPHA:1104
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor...	ORPHA:2237
Bardet-Biedl Syndrome 11	Retinopathy, Polydactyly	OMIM:615988
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Abnormal respiratory motile cilium morphology, Chronic otitis media	OMIM:612518
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Tubular luminal dilatation...	OMIM:219730
Even-Plus Syndrome	Epiphyseal dysplasia, Recurrent urinary tract infections, Severe short stature, Vesicoureteral re...	OMIM:616854
Fetal Alcohol Syndrome	Thin upper lip vermilion, Atrial septal defect, Short stature, Non-midline cleft lip, Cleft palat...	ORPHA:1915
Desbuquois Syndrome	Severe short stature, Ventricular septal defect, Camptodactyly of finger, Coxa valga, Elbow dislo...	ORPHA:1425
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Bicuspid aortic valve, Short stature, Cleft upper lip, Postnatal growth...	OMIM:243310
Weill-Marchesani Syndrome 3	Short stature, Microspherophakia, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly	OMIM:614819
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Short stature, High palate, Broad alveolar ridges, Clinodactyly of the...	OMIM:314320
Monosomy 18Q	Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Downturned corners of mouth, High...	ORPHA:1600
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph...	ORPHA:980
Grange Syndrome	Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm	ORPHA:79094
Ciliary Dyskinesia, Primary, 14	Absent inner dynein arms, Situs inversus totalis, Abnormal axonemal organization of respiratory m...	OMIM:613807
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Overlapping toe, Short stature, Cryptorchidism, Optic atrophy, Low-set ...	OMIM:600118
Thiamine-Responsive Megaloblastic Anemia Syndrome	Retinal dystrophy, Short stature, Cardiac arrest, Ventricular septal defect, Congestive heart fai...	ORPHA:49827
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger...	ORPHA:959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Retinal dysplasia, Ventriculomegaly	OMIM:614830
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Micromelia, Hypoplastic left heart, Disproportion...	ORPHA:2772
Kury-Isidor Syndrome	Finger syndactyly, Tented upper lip vermilion, Ventricular septal defect, Rocker bottom foot, Pro...	OMIM:619762
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis, Pulmonic stenosis	OMIM:264140
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula	OMIM:619239
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Short stature, Cleft palate, Narrow mouth, Atrial septal defect	ORPHA:93946
Cerebrooculofacioskeletal Syndrome 4	Short stature, Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared meta...	OMIM:610758
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope...	OMIM:200990
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Hypospadias, Overlapping toe, Deep philtrum, Patent ductus arteriosus,...	ORPHA:163956
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Ventriculomegaly, Remnants of the hyaloid vascular system, Optic nerve...	OMIM:603671
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Hypoplasia of the ulna, Postnatal growth retardation, Ulnar bowing, Sho...	OMIM:619135
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Acromicria, Small hand, Abnormal heart morphology, Downturned corne...	ORPHA:254525
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, Cardiomyopathy, 3...	ORPHA:26791
Cohen Syndrome	High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Short sta...	ORPHA:193
Marden-Walker Syndrome	Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Ab...	ORPHA:2461
Tarp Syndrome	Single transverse palmar crease, Glossoptosis, High palate, Atrial septal defect, Deep palmar cre...	OMIM:311900
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Clinodactyly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of t...	OMIM:280000
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Postaxia...	OMIM:605627
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Broad ha...	OMIM:300963
Pineocytoma	Hearing abnormality, Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hearing impairment, Cardiomegaly, Hydrocephalus, Microphthal...	ORPHA:858
10Q22.3Q23.3 Microdeletion Syndrome	Intestinal polyposis, Curved middle phalanx of the 4th toe, Arachnodactyly, Patent ductus arterio...	ORPHA:276413
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Single transverse palmar crease, Renal hypoplasia, High palate, Microphthalmia, Hypert...	OMIM:619053
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Short stature, Hamartoma of tongue, Accessory oral ...	OMIM:277170
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val...	ORPHA:3405
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts...	OMIM:267010
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Abnormality of the hand, Downturned corners of mouth, Abnormality of th...	ORPHA:521308
Meckel Syndrome, Type 2	Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Renal cyst, Cleft p...	OMIM:603194
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Camptodactyly of finger, High, narrow palate, Ulnar deviation of finger, Talipes eq...	ORPHA:1101
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Paten...	OMIM:301043
Ciliary Dyskinesia, Primary, 38	Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Conductive hearing impa...	OMIM:618063
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse eyebrow, Sparse scalp hair, Abnormal respiratory motile cilium morphology, Nail dysplasia	OMIM:225050
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve	OMIM:619492
Pierpont Syndrome	Smooth philtrum, Short stature, Short toe, Broad palm, Micropenis, Prominent median palatal raphe...	OMIM:602342
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Short stature, Growth delay, Atrial septal defect, Intrauterine growth ret...	OMIM:617744
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea...	ORPHA:2091
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Apathy	ORPHA:99966
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Ventricular septal defect, Aplasi...	ORPHA:2256
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Eosinophilic infiltration of the esophagus, Malabsorption, Multiple muscular ventricular septal d...	OMIM:615508
Anencephaly 2	Anophthalmia, Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Rieger anomaly, Severe short stature, Ventricular septal defect, Short ...	OMIM:270450
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Congenital hip dislocation, Brittle hair, Anophthalmia, Osteop...	OMIM:305600
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Short stature,...	OMIM:250410
Congenital Hydrocephalus	Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment, Optic atrophy, Abnorma...	ORPHA:2185
Camptosynpolydactyly, Complex	Syndactyly, Cutaneous syndactyly, Polydactyly, Nail dysplasia, Camptodactyly, Small nail, Toenail...	OMIM:607539
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Overlapping fingers, Broad hallux, Overlapping toe, Short hallux, Triangular shape...	OMIM:618167
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Cleft soft palate, Accessory oral frenulum, Duplication of thumb ph...	ORPHA:2756
Nanophthalmos	Microphthalmia	ORPHA:35612
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, D...	OMIM:300855
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Ventricula...	ORPHA:2438
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Upper limb undergro...	OMIM:169400
C Syndrome	Short metacarpal, Toe syndactyly, Ventricular septal defect, Short stature, Accessory oral frenul...	OMIM:211750
Turnpenny-Fry Syndrome	Dental crowding, Prominent interphalangeal joints, Downturned corners of mouth, High palate, Wide...	OMIM:618371
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Dermatoglyphic ridges abnormal, Mitral valve prolapse, Small thenar em...	OMIM:211960
Distal 22Q11.2 Microduplication Syndrome	Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Unilateral renal agenesis, Ta...	ORPHA:261337
Ciliary Dyskinesia, Primary, 28	Situs inversus totalis, Recurrent otitis media, Dynein arm defect of respiratory motile cilia	OMIM:615505
Cofs Syndrome	Abnormality of retinal pigmentation, Short stature, Camptodactyly of finger, Sensorineural hearin...	ORPHA:1466
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Short stature, Ventricular septal defect, Postnatal growth re...	OMIM:620210
Pentalogy Of Cantrell	Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Renal agenesis, Non-midl...	ORPHA:1335
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Optic atrophy, Elbow flexion contracture, Small nail	OMIM:619470
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, C...	OMIM:619149
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Ventricular septal defect, Postaxial hand polydactyly, Chronic kidney disease, Oro...	OMIM:615630
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ...	OMIM:614976
Fanconi Anemia, Complementation Group F	Short stature, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-3...	OMIM:603467
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Congenital hip dislocation, Intestinal malrotation, Unilatera...	OMIM:113650
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac...	OMIM:619148
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Vesicoureteral reflux, Axial ...	OMIM:274000
Thoraco-Abdominal Enteric Duplication	Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis, Abnormal tricus...	ORPHA:1759
Orofaciodigital Syndrome Type 2	Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, Short tibia, Atriov...	ORPHA:2751
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower l...	OMIM:616920
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Aganglionic megacolon, Tapered finger, Patent ductus arteriosus, Inter...	OMIM:613870
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, High, narrow palate, Short philtrum,...	ORPHA:464738
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Branchial Arch Syndrome, X-Linked	High, narrow palate, Short stature, High palate, Pulmonic stenosis	OMIM:301950
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Hypospadias, Optic nerve hypoplasia...	OMIM:206900
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Synophrys, Holoprosencephaly, Chorioretinal coloboma, Dandy-Wa...	ORPHA:2162
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca...	ORPHA:1352
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ...	ORPHA:860
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Cleft palate	ORPHA:217
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Short stature, Mic...	ORPHA:1908
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis...	ORPHA:887
3Q29 Microduplication Syndrome	Toe syndactyly, Ventricular septal defect, Sandal gap, Abnormality of the dentition, Deep philtru...	ORPHA:251038
Lissencephaly 8	Occipital encephalocele, Optic atrophy, Talipes equinovarus, Microphthalmia, Ventriculomegaly	OMIM:617255
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Short stature, S...	OMIM:612530
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig...	OMIM:117650
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Wolcott-Rallison Syndrome	Metaphyseal dysplasia, Renal insufficiency, Short stature, Chronic kidney disease, Growth delay, ...	ORPHA:1667
Ciliary Dyskinesia, Primary, 32	Situs inversus totalis, Absent respiratory ciliary axoneme radial spokes, Recurrent otitis media	OMIM:616481
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H...	ORPHA:2872
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Abnormal tongue morphology, Abnormal heart morphology, Downturned c...	ORPHA:531151
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Trisomy 4P	Low-set, posteriorly rotated ears, Hypospadias, Camptodactyly of finger, Abnormal hair pattern, S...	ORPHA:1738
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Short stature, Abnormal morphology of ulna, Mitral valve prolapse, High palate, Abnormal metacarp...	ORPHA:2233
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Optic atrophy, Left ventricular hypertrophy, Lethargy, Hypertrophic cardiomyop...	OMIM:618228
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Short stature, Accessory oral frenulum, Osteolysis involving bones of the upper limbs...	ORPHA:88630
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Short stature, Hydrocephalus, Low posterior hairline, Mit...	ORPHA:2183
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Hypospadias, Single transverse palmar crea...	OMIM:616449
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Zechi-Ceide Syndrome	Sandal gap, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morphology, Downturned corn...	ORPHA:217017
Woods Syndrome	Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Thin...	OMIM:615236
Charge Syndrome	Anophthalmia, Abnormal tibia morphology, Vesicoureteral reflux, Clinodactyly of the 5th finger, M...	ORPHA:138
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Aminoaciduria, ...	OMIM:249270
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Kleefstra Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co...	ORPHA:261494
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short stature, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hy...	OMIM:615279
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Abnormal pulmonary valve morphology, Optic nerve hypoplasia, Thick lowe...	ORPHA:137634
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Cardiomyopath...	ORPHA:157
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Renal cyst, Cleft palate, ...	OMIM:611561
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent outer dy...	OMIM:616037
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Short Stature, Developmental Delay, And Congenital Heart Defects	Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d...	OMIM:617044
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short stature, Cleft lip, Patent ductus arteriosus, Cleft palate, Narrow palate, Contracture of t...	OMIM:618223
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short stature, Overlapping toe, Cleft lip, Deep philtrum, Cleft palate, Abnormal heart morphology...	OMIM:618571
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Wrist flexion contracture, Syndac...	OMIM:268300
Subaortic Stenosis-Short Stature Syndrome	Short stature, Bilateral single transverse palmar creases, Membranous subvalvular aortic stenosis...	ORPHA:3191
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cleft upper lip, Absent pulmonary artery, Patent ductus a...	OMIM:600460
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
2Q31.1 Microdeletion Syndrome	Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, Clinodactyly o...	ORPHA:251014
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Microphallus, T...	OMIM:612651
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Ventricular septal defect, Short stature, Disproportionate short-...	ORPHA:85194
3Q29 Microdeletion Syndrome	Dental crowding, Hypospadias, Abnormality of the dentition, Tapered finger, Patent ductus arterio...	ORPHA:65286
Noonan Syndrome 12	Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, Proximal placement of thumb	OMIM:618624
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Sparse scalp hair, Abnormal fingernail morphology, Short statu...	ORPHA:2701
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Otitis...	OMIM:606763
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Diets-Jongmans Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Short stature, Wide mouth, Hete...	OMIM:618846
Holoprosencephaly 11	Holoprosencephaly	OMIM:614226
Microcephaly-Capillary Malformation Syndrome	Brachydactyly, Ventricular septal defect, Short stature, Vesicoureteral reflux, Cleft palate, Atr...	OMIM:614261
Holt-Oram Syndrome	Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology...	OMIM:142900
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu...	OMIM:618901
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Facial palsy, Hydrocephalus, Abnormal left ventricular function, Cardiomyopath...	OMIM:613155
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio...	ORPHA:1923
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,...	OMIM:618460
Microcephaly-Microcornea Syndrome, Seemanova Type	Short stature, Growth delay, High palate, Narrow mouth, Microphthalmia	ORPHA:2528
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Absent outer dynein arms, Recurrent otitis media, Absent inner dynein arms	OMIM:613193
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Carious...	OMIM:613680
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Renal agenesis, Hypoplastic scapulae, Split hand, Abnorma...	OMIM:200980
Noonan Syndrome 9	Hydroureter, Short stature, Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis	OMIM:616559
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:614500
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Finger syndactyly, Multicystic kidney dy...	ORPHA:2092
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Alveolar ridge overgrowth...	OMIM:612938
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Shor...	ORPHA:411986
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Prominent fingertip pads, Bicuspid aortic valve, Short stature, Arachnodactyly, Tapered finger, P...	OMIM:619721
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Talipes equinovarus, Increased CSF lactate	OMIM:613710
Combined Oxidative Phosphorylation Deficiency 2	Mild fetal ventriculomegaly, Low-set ears, Neonatal death, Lethargy, Brachydactyly	OMIM:610498
Orofaciodigital Syndrome Xiv	Natal tooth, Ventricular septal defect, Broad hallux, Hamartoma of tongue, Cleft lip, Supernumera...	OMIM:615948
Joubert Syndrome 16	Encephalocele, Retinal dystrophy, Renal cyst, Polydactyly, Nephronophthisis, Dandy-Walker malform...	OMIM:614465
Hypotonia, Infantile, With Psychomotor Retardation	Open mouth, Ventricular septal defect	OMIM:616816
Joubert Syndrome 22	Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, Postaxial foot polydactyly, Mic...	OMIM:615665
Adams-Oliver Syndrome 2	Alopecia, Single transverse palmar crease, Hydrocephalus, Low anterior hairline, Optic atrophy, P...	OMIM:614219
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Pierpont Syndrome	Posteriorly rotated ears, Uplifted earlobe, Hearing impairment, Cryptorchidism, Short toe, Deep p...	ORPHA:487825
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Ventricular septal defect, Short stature, Abnormality of the hand, Clinodactyly, Bila...	ORPHA:369891
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ventricular septal defect, Short stature, Tapered finger, Patent ductus arte...	OMIM:617159
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Short stature, Unilateral microphthalmos, Bilateral cleft ...	OMIM:618874
Short Stature-Micrognathia Syndrome	Ventricular septal defect, Short stature, Rhizomelia, Bowing of the legs, Coxa valga, Broad femor...	OMIM:617164
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Ectopic kidney, Proximal placement of thumb, High, n...	OMIM:122470
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Single transverse pal...	ORPHA:329224
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morpho...	ORPHA:261197
Say Syndrome	Ulnar deviation of the 3rd finger, Short stature, Tapered finger, Proximal renal tubular acidosis...	OMIM:181180
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Temtamy Syndrome	Brachydactyly, Short toe, Thick lower lip vermilion, Genu varum, Clinodactyly of the 5th finger, ...	ORPHA:1777
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Rhizomelia	OMIM:166990
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Absent outer dynein arms, Pulmonary insufficiency, Chronic otitis media	OMIM:614017
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia,...	ORPHA:272
Severe Canavan Disease	Lethargy, Optic atrophy	ORPHA:314911
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Postnatal growth retardation, Abnormal heart morphology, ...	ORPHA:494344
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Short stature, Narrow mouth, Atrial septal defect, Broad thumb, Long philtrum	ORPHA:261295
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, High pa...	OMIM:608670
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Limited elbow movement, Proximal placemen...	OMIM:610759
Fried Syndrome	Hydrocephalus, Macrotia, Abnormal optic nerve morphology, Hearing impairment	ORPHA:85335
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia, Cryptorchidism, Synophrys, Clinoda...	OMIM:618067
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Severe short stature, Ventricular septal defect, Short sta...	ORPHA:3255
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell...	OMIM:618433
Boudin-Mortier Syndrome	Long toe, Mallet finger, Arachnodactyly, Long fingers, Pseudoepiphyses of the proximal phalanges ...	OMIM:619543
Stromme Syndrome	Optic nerve hypoplasia, Hydrocephalus, Bilateral renal hypoplasia, Preaxial polydactyly, Stillbir...	OMIM:243605
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def...	OMIM:613001
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus totalis, Mitral valve pro...	OMIM:609008
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Ventricular septal defect, Short stature, Single transverse palmar crease, Micr...	OMIM:618870
Seizures-Scoliosis-Macrocephaly Syndrome	Atrial septal defect, Overlapping toe, Abnormality of the kidney, Long philtrum	ORPHA:466926
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Short stature, Paten...	ORPHA:457193
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot, Abnormality of the philtrum, Hypospadias, Abnormality of the dentition	ORPHA:276422
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Holoprosencephaly	OMIM:147250
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Renal hypoplasia/aplasia, Cleft palate, Abnormal shoulder morphology, ...	ORPHA:2345
Aase-Smith Syndrome I	Ventricular septal defect, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate	ORPHA:2432
Jansen-De Vries Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Small ...	OMIM:617450
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Proportionate short stature, Cleft upper lip, Cleft palate, High palate	OMIM:609654
Mosaic Trisomy 16	Syndactyly, Single coronary artery origin, Ventricular septal defect, Hypospadias, Single transve...	ORPHA:1708
15Q14 Microdeletion Syndrome	Ventricular septal defect, Short stature, Abnormality of the dentition, Cleft palate, Short philt...	ORPHA:261190
Neonatal Marfan Syndrome	Long toe, Arachnodactyly, High, narrow palate, Abnormal cardiac ventricle morphology, Long finger...	ORPHA:284979
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Holoprosencephaly, Anterior encephalocele	OMIM:601357
Hypertelorism, Microtia, Facial Clefting Syndrome	Ectopic kidney, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Sma...	OMIM:239800
Sarcosinemia	Hypersarcosinuria, Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:3129
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Optic disc hypoplasia, Renal agenesis, Absent thumb, Esophageal atresi...	OMIM:300514
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropath...	OMIM:617056
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Tapered finger, Bilateral cleft lip and palate, Thin vermilion bord...	OMIM:618829
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Intestinal malrotation, Ventricular septal defect, Hypospadias, Carious teeth, S...	OMIM:617602
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Radioulnar synostosis,...	ORPHA:3270
Recombinant 8 Syndrome	Ventricular septal defect, Abnormality of the kidney, Bilateral single transverse palmar creases,...	ORPHA:96167
Methylcobalamin Deficiency Type Cble	Syndactyly, Hemolytic-uremic syndrome, Postnatal growth retardation, Hydrocephalus, Hypertension,...	ORPHA:2169
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Hypospadias, Postnatal growth retardation, Pierre-Robin sequence, Cleft palate, ...	OMIM:619184
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtr...	OMIM:615398
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplasti...	ORPHA:2876
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Ciliary Dyskinesia, Primary, 15	Situs inversus totalis, Nasal polyposis, Abnormal axonemal organization of respiratory motile cil...	OMIM:613808
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Short stature, Nephroblastoma, Postnatal growth retard...	OMIM:257300
Hypothyroidism, Congenital, Nongoitrous, 7	Growth delay, Lethargy, Short stature	OMIM:618573
Ogden Syndrome	Broad hallux, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Cardiogeni...	ORPHA:276432
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Hydroureter, Ventricular septal defect, Abnormal den...	ORPHA:1458
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Patent ductus arteriosus, Hip dislocation, Nephrocalcinosis, Buphthalmos, Limb und...	OMIM:618005
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Thin upper lip vermilion, Dental crowding, Ventricular septal defect, High, narrow...	ORPHA:466791
Seckel Syndrome 2	Hypospadias, Short stature, Ectopic kidney, Growth delay, Clinodactyly of the 5th finger, Microdo...	OMIM:606744
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Synophrys, Cryptorchidism, Low posterior hairline, Large hands, Decrea...	ORPHA:85287
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Ciliary Dyskinesia, Primary, 18	Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Recurrent otitis medi...	OMIM:614874
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Short stature, Cleft upper l...	OMIM:614294
Contractural Arachnodactyly, Congenital	Hip contracture, Bowing of the long bones, Bicuspid aortic valve, Ventricular septal defect, Arac...	OMIM:121050
Klippel-Trénaunay Syndrome	Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Upper limb asym...	ORPHA:90308
Frontoocular Syndrome	Narrow philtrum, High palate, Pulmonic stenosis, Narrow mouth, Atrial septal defect	OMIM:605321
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Chromosome 5Q12 Deletion Syndrome	Long toe, Ventricular septal defect, Postnatal growth retardation, Long fingers, Patent ductus ar...	OMIM:615668
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Recurr...	OMIM:615444
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Short stature, Submucous cleft hard palate, Vesicoureteral reflux, Renal hypoplasia, Aortic valve...	OMIM:617660
Megalencephaly	Atrial septal defect, Long penis, Genu valgum	ORPHA:2477
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D...	OMIM:617201
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:93274
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Arachnodactyly, Narrow mouth, Mitral valve prolapse, High palate, Bilateral tali...	OMIM:615539
Ververi-Brady Syndrome	Thin upper lip vermilion, Short stature, Wide mouth, Everted lower lip vermilion, High palate, Tr...	OMIM:617982
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Diencephalic Syndrome	Hydrocephalus, Long penis, Optic atrophy, Large hands, Macrotia	ORPHA:1672
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Congenital Myopathy 11	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619967
Marfan Syndrome	Bicuspid aortic valve, Dental crowding, Equinus calcaneus, Increased axial length of the globe, H...	OMIM:154700
Ciliary Dyskinesia, Primary, 11	Short stature, Abnormal central microtubular pair morphology of respiratory motile cilia	OMIM:612649
Gómez-López-Hernández Syndrome	Short stature, Hydrocephalus, Low-set ears, Alopecia of scalp, Toenail dysplasia	ORPHA:1532
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:214300
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Thanatophoric Dysplasia	Abnormality of the kidney, Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteri...	ORPHA:2655
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, Ascending aortic dissection, Hig...	OMIM:616166
Ciliary Dyskinesia, Primary, 50	Coiled sperm flagella, Short sperm flagella, Absent inner dynein arms	OMIM:620356
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Vascular ring, Atrial s...	OMIM:603387
Joubert Syndrome 10	Postaxial polydactyly, Growth delay, Low-set ears, Rod-cone dystrophy, Hirsutism	OMIM:300804
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureteral reflux, Micro...	ORPHA:2470
Skraban-Deardorff Syndrome	Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee...	OMIM:617616
Cardiomyopathy, Familial Hypertrophic, 21	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Triploidy	Hydrocephalus, Meningocele, Aplasia/Hypoplasia affecting the eye, Holoprosencephaly	ORPHA:3376
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Vesicoureteral reflux...	OMIM:300707
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Hyperextensibility of the finger joints, Toe syndactyly, Ventricular se...	ORPHA:505237
Monosomy 18P	Microphthalmia, Holoprosencephaly	ORPHA:1598
Masa Syndrome	Short stature, Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb	OMIM:303350
Ciliary Dyskinesia, Primary, 6	Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology	OMIM:610852
Timothy Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Cuta...	OMIM:601005
Potocki-Lupski Syndrome	Dental crowding, Short stature, Abnormal renal morphology, Dental malocclusion, Wide mouth, High ...	OMIM:610883
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Holoprosencephaly	ORPHA:2570
Ciliary Dyskinesia, Primary, 9	Situs inversus totalis, Absent outer dynein arms, Recurrent otitis media, Chronic otitis media	OMIM:612444
Congenital Disorder Of Glycosylation, Type Iil	Ventricular septal defect, Unilateral renal agenesis, Postaxial polydactyly, Patent ductus arteri...	OMIM:614576
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology...	ORPHA:1842
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ...	ORPHA:857
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
German Syndrome	Short stature, Camptodactyly of finger, Orofacial cleft, Abnormal cardiac septum morphology, Ever...	ORPHA:2077
Diprosopus	Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate	ORPHA:1681
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Patent foramen ovale, Hamartoma of tongue, Pate...	OMIM:269860
Zaki Syndrome	Toe syndactyly, Short stature, Renal agenesis, Long fingers, Patent ductus arteriosus, Wide mouth...	OMIM:619648
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Short stature, Pyloric stenosis, Patent ductus arteriosus...	OMIM:218350
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Chudley-Mccullough Syndrome	Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly	OMIM:604213
Chromosome 9P Deletion Syndrome	High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, Long toe, Hypo...	OMIM:158170
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Renal hypoplasia, Perimembranous ventricular se...	OMIM:611376
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Abnormal respiratory motile cilium morphology	OMIM:215520
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Atrial septal defect, Delayed eruption of permanent teeth, Narrow mo...	OMIM:619356
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Dental crowding, Single transverse palmar crease, Intern...	OMIM:619503
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete...	ORPHA:2911
Genitopatellar Syndrome	Delayed eruption of teeth, Short palm, Multicystic kidney dysplasia, Hip contracture, Short statu...	ORPHA:85201
Glut1 Deficiency Syndrome 1	Hypoglycorrhachia, Lethargy, Paroxysmal lethargy	OMIM:606777
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Thick lower lip vermilion, Wide mouth, Nephrocalcinosis, Atrial septal defect, Open mouth, Thick ...	OMIM:611087
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Short stature, Proximal placement of thumb, Esophageal atresia, Deep p...	OMIM:610536
Cousin Syndrome	Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac wing, Clinodactyly of the 5...	OMIM:260660
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Optic atrophy, Bilateral talipes equinovarus, Short stature	OMIM:618174
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Microdontia, Short phalanx...	OMIM:143095
Koolen-De Vries Syndrome	Bicuspid aortic valve, High palate, Widely spaced teeth, Prominent fingertip pads, Vesicoureteral...	OMIM:610443
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Hydrocephalus, Optic atrophy, Telangiectasia, Abnormal hea...	ORPHA:93400
Cardiospondylocarpofacial Syndrome	Brachydactyly, Severe short stature, High, narrow palate, Mitral valve prolapse, Short palm, Fail...	ORPHA:3238
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,...	OMIM:614609
Geleophysic Dysplasia 2	Short palm, Thin upper lip vermilion, Short stature, Tricuspid stenosis, Mitral valve prolapse, C...	OMIM:614185
Lujan-Fryns Syndrome	Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, High pala...	ORPHA:776
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Dextrocardia, Coarctation of aorta, Micropenis, High palate, Short phil...	OMIM:618929
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Ventricular septal defect, Bowing of the legs, Long hallux, Renal cyst, Mitral...	OMIM:617107
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Vesicoureteral reflux, Cleft palate, Furrowed t...	ORPHA:453499
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Ventricular septal defect, Hypospadias, Short stature, Cleft lip, Patent ductus arter...	OMIM:616975
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	OMIM:601794
Lowry-Maclean Syndrome	Hypospadias, Single transverse palmar crease, Delayed eruption of primary teeth, High, narrow pal...	ORPHA:2409
Coffin-Siris Syndrome 6	Short stature, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Atrial septal de...	OMIM:617808
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe, Split hand, Es...	ORPHA:974
Al-Raqad Syndrome	Thin upper lip vermilion, Sandal gap, Narrow mouth, Atrial septal defect, Brachydactyly	OMIM:616459
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Ventricular septal defect, Hypospadias, Fractured radius, Cardiomegaly, Decreased fi...	OMIM:616897
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Ventricular septal defect, Short stature, Overlapping toe, Tapered fing...	OMIM:617452
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Short stature, Dextrotransposition of the great arteries, High palate,...	OMIM:619995
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ulnar deviation of the hand, Ventricular septal defect, Short stature, Proximal placement of thum...	OMIM:620113
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Orofacial cleft, High palate, Atrial septal defect, Clinod...	OMIM:607872
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Rena...	OMIM:614175
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Clinodactyly, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great a...	OMIM:616789
Gabriele-De Vries Syndrome	Hallux valgus, Abnormality of upper lip vermillion, Sydney crease, Sandal gap, Abnormality of the...	ORPHA:506358
3Mc Syndrome 3	Short stature, Cleft upper lip, Clinodactyly, Preaxial polydactyly, Horseshoe kidney, Cleft palat...	OMIM:248340
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Ventricular septal defect, Short stature, Cleft lip, Patent ductus arte...	OMIM:618454
Wrinkly Skin Syndrome	Delayed eruption of teeth, Scapular winging, Congenital hip dislocation, Short stature, Carious t...	OMIM:278250
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Epispadias, Vitritis, Abnormality of the ear, Retinal dysp...	ORPHA:2556
Mitochondrial Complex I Deficiency, Nuclear Type 5	Growth delay, Lethargy, Optic atrophy, Increased CSF lactate	OMIM:618226
Autism Spectrum Disorder Due To Auts2 Deficiency	Short stature, Decreased palmar creases, Narrow palm, Abnormal heart morphology, Short philtrum, ...	ORPHA:352490
Trisomy 18	Atrial septal defect, Bilateral single transverse palmar creases, Short stature, Abnormality of t...	ORPHA:3380
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Ventriculomegaly, Short sta...	ORPHA:264200
Formiminoglutamic Aciduria	Atrial septal defect, Abnormal concentration of acylcarnitine in the urine	ORPHA:51208
Distal Duplication 5Q	Hypoplasia of the ulna, Hypospadias, Short stature, Ventricular septal defect, Absent thumb, Dext...	ORPHA:96097
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Short stature,...	ORPHA:3138
Buratti-Harel Syndrome	Dilation of Virchow-Robin spaces, Hypospadias, Broad hallux, Velopharyngeal insufficiency, Submuc...	OMIM:619314
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Short stature, Polycystic kidney dysplasia	OMIM:211890
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a...	OMIM:619910
Edinburgh Malformation Syndrome	Long fingers, Synophrys, Hydrocephalus, Generalized hirsutism, Ulnar deviation of finger, Low pos...	ORPHA:1895
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Short stature, Patent ductus ar...	OMIM:300712
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Micropenis, Clubbing of fingers, Gingival bleeding, Left ventricular hy...	ORPHA:335
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus, Short stature	OMIM:210350
Martsolf Syndrome 1	Short palm, Short metacarpal, Short stature, Metatarsus adductus, Slender ulna, Short toe, Osteop...	OMIM:212720
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Adams-Oliver Syndrome 1	Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arte...	OMIM:100300
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Narrow palate, Fe...	OMIM:617022
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Atrial septal defect, Advanced eruption of teet...	ORPHA:818
Delpire-Mcneill Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Hip dislocation	OMIM:619083
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia	ORPHA:66630
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place...	OMIM:229850
Contractures-Developmental Delay-Pierre Robin Syndrome	Hypospadias, Arachnodactyly, Overlapping toe, Metatarsus adductus, High, narrow palate, Short thu...	ORPHA:436003
Fanconi Anemia	Abnormal femur morphology, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly o...	ORPHA:84
Oculoauriculofrontonasal Syndrome	Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum	ORPHA:398156
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Ectopic kidney, Tracheoesophageal fistula, Orofacial cleft, Coarctatio...	ORPHA:268249
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent...	ORPHA:284169
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Scapular winging, Hypospadias, Abnormal pulmonary valve morpholo...	ORPHA:500
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Short stature, Thick ...	OMIM:618027
Johnson Neuroectodermal Syndrome	Severe short stature, Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, E...	ORPHA:2316
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Thin upper lip vermilion, Arachnodactyly, Intestinal malrotation, Hiatus hernia, Adducted thumb, ...	OMIM:601776
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Deep philtrum, Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Wide mo...	OMIM:617260
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Short stature, Abnormality of the kidney, Small hand, Cleft palate, Tubulointerstitial nephritis,...	ORPHA:459061
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Atrial septal defect, Abnormal ...	ORPHA:2475
Transaldolase Deficiency	Atrial septal defect, Biventricular hypertrophy, Abnormality of the kidney, Coarctation of aorta	ORPHA:101028
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral refl...	OMIM:616894
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Clinodactyly, Rod-cone dystrophy	OMIM:615984
Moebius Syndrome	Syndactyly, Brachydactyly, Abnormality of the dentition, Clinodactyly, Split hand, Abnormal pelvi...	OMIM:157900
Coffin-Lowry Syndrome	High palate, Widely spaced teeth, Abnormal tricuspid valve morphology, Advanced eruption of teeth...	ORPHA:192
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Abnormal...	ORPHA:500159
Geleophysic Dysplasia 1	Short palm, Short stature, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Hypoplasia of...	OMIM:231050
Schuurs-Hoeijmakers Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Patent ductus arteriosus, Downturned c...	OMIM:615009
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Short stature, Cleft palate, Glossoptosi...	ORPHA:1393
Tarp Syndrome	Single transverse palmar crease, Glossoptosis, Atrial septal defect, Finger syndactyly, Tetralogy...	ORPHA:2886
Hemochromatosis, Type 2A	Congestive heart failure, Dilated cardiomyopathy, Azoospermia, Cardiomyopathy, Lethargy, Arrhythmia	OMIM:602390
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short stature, Paten...	OMIM:605275
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Short stature, Cleft upper lip, Absent thumb, Shor...	OMIM:105650
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Exaggerated cupid's bow, Ventricular septal defect, Single transverse palm...	OMIM:618619
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Dextrocardia, Abnormal hair morphology, Hydrocephalu...	ORPHA:1571
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Optic atrophy, Hearing impairment	OMIM:615191
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly, Retinal coloboma, Chorioretinal coloboma	ORPHA:2921
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease, Cleft palate, Cleft upper lip	OMIM:600251
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia,...	OMIM:235510
Isolated Atp Synthase Deficiency	Short stature, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic atrophy, Renal hyp...	ORPHA:254913
Developmental And Epileptic Encephalopathy 40	Intrauterine growth retardation, Lethargy	OMIM:617065
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Paten...	ORPHA:141099
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Tented upper lip vermilion, Wide mouth, Nephrocalcinosis, Atrial septal defect, Open mouth	ORPHA:500533
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Postaxial hand polydactyly, Hydrocephalus, Chorioretinal atrophy, Low-s...	OMIM:220220
Al Kaissi Syndrome	Thin upper lip vermilion, Macrodontia, Short stature, Postnatal growth retardation, High, narrow ...	OMIM:617694
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal ...	OMIM:300863
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect, Urinary incontinence	OMIM:620094
X Small Rings	Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Taper...	ORPHA:96201
Noonan Syndrome 8	Ventricular septal defect, Short stature, Patent ductus arteriosus, Pulmonic stenosis, Palmoplant...	OMIM:615355
Tetraamelia Syndrome 2	Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso...	OMIM:618021
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Hypospadias, Toe syndac...	ORPHA:217346
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus, Depression, Lethargy, Tinnitus	ORPHA:73256
Dihydrolipoamide Dehydrogenase Deficiency	Increased CSF valine concentration, Increased CSF isoleucine concentration, Increased CSF leucine...	OMIM:246900
Weill-Marchesani Syndrome 1	Ventricular septal defect, Short stature, Proportionate short stature, Patent ductus arteriosus, ...	OMIM:277600
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Short stature, Hypoplastic ilia, Optic disc col...	OMIM:169550
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Short stature, Single transverse palmar...	OMIM:309801
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Hypospadias, Postnatal growth retardation, Dilated cardiomyopathy, ...	OMIM:610198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Ventriculomegaly, Hydrocephalus, Low anterior hairline, Left ventricular hype...	OMIM:613153
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Short stature, Renal agenesis, Ectopic kidney, Absent thumb, Short ...	OMIM:227650
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Short stature, Renal agenesis, Ectopic kidney, Absent thumb, Short ...	OMIM:600901
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Ventricular septal defect, Short stature, Unilateral renal ...	OMIM:188400
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Accessory oral frenulum, Preaxial hand polydactyly, Cleft palate, Atrial septal de...	ORPHA:79113
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Hydrocephalus, Ab...	ORPHA:1666
20Q13.33 Microdeletion Syndrome	Hallux valgus, Dilation of Virchow-Robin spaces, Hypospadias, Tapered finger, Abnormal cardiac ve...	ORPHA:261311
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Short stature, Ventricular septal defect, Renal agenesis, Ectopic k...	OMIM:227645
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Short stature, Hydrocephalus, Low-set ears, Clinodactyly of the 5th finger, Umbilical hernia, Ste...	ORPHA:1516
Spondylocostal Dysostosis 4, Autosomal Recessive	Neurogenic bladder, Short stature, Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydroc...	OMIM:613686
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal thumb morpho...	ORPHA:500095
Ring Chromosome 21 Syndrome	Holoprosencephaly	ORPHA:1445
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Short stature, Dental malocclusion, Wide mouth, ...	OMIM:610733
Distal Monosomy 7Q36	Holoprosencephaly	ORPHA:1636
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, High,...	ORPHA:3472
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc...	ORPHA:99947
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca...	OMIM:611878
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly	OMIM:601370
19P13.3 Microduplication Syndrome	Ventricular septal defect, Long fingers, Hip dislocation, Cleft palate, Growth delay, Hip dysplas...	ORPHA:447980
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Abn...	ORPHA:2847
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Optic nerve hypo...	OMIM:615879
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Hypospadias, Sandal g...	ORPHA:254346
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Hypospadias, Abnormal pin...	OMIM:607143
Atelis Syndrome 1	Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect	OMIM:620184
15q26 overgrowth syndrome	Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Tapered finger, Camptodactyl...	DECIPHER:81
Oculodentodigital Dysplasia	Atrial septal defect, Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teet...	OMIM:164200
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Anteriorly placed anus, High palate,...	ORPHA:1225
Mitral Valve Prolapse 1	High, narrow palate, High palate, Mitral valve prolapse	OMIM:157700
Chronic Atrial And Intestinal Dysrhythmia	Bicuspid aortic valve, Intestinal pseudo-obstruction, Left atrial enlargement, Pulmonic stenosis	OMIM:616201
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormal heart...	OMIM:184705
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Arachnodactyly, Aortic root aneurysm, Short philtrum, Talipes equinova...	OMIM:301039
Primary Pulmonary Hypoplasia	Ureteral stenosis, Dextrocardia, Secundum atrial septal defect, Cleft palate, Patellar hypoplasia...	ORPHA:2257
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Overriding aorta, Rena...	ORPHA:3186
Degcags Syndrome	Bilateral renal hypoplasia, High palate, Atrial septal defect, Patent foramen ovale, Syndactyly, ...	OMIM:619488
Catel-Manzke Syndrome	Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid...	OMIM:616145
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Renal agenesis, Cleft lip, Pul...	OMIM:611812
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia	OMIM:617091
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormality of the kidney, Abnormal pelvis bone ossi...	ORPHA:166119
Renpenning Syndrome 1	Thin upper lip vermilion, Macrodontia, Ventricular septal defect, Hypospadias, Phimosis, Situs in...	OMIM:309500
Microphthalmia, Syndromic 5	Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft palate, Microphthalmia, Micropenis	OMIM:610125
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic...	ORPHA:1553
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Short stature, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:610023
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Osteopathia striata, High palate, Clinodactyly of the 5th finger, Atrial septal ...	OMIM:300373
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Intraute...	OMIM:617751
Thakker-Donnai Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal f...	ORPHA:1780
Familial Nasal Acilia	Abnormal respiratory motile cilium morphology	ORPHA:922
Fraser Syndrome 1	Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowdi...	OMIM:219000
Dihydropyrimidinase Deficiency	Growth delay, Uraciluria, Talipes equinovarus, Lethargy, Short phalanx of finger	OMIM:222748
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Atrial septal defect, Intrauterine growth retardation, Patent foramen ovale, ...	ORPHA:89844
Cardiac Valvular Dysplasia, X-Linked	Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Mitral valve prolapse, Thi...	OMIM:314400
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon...	ORPHA:140976
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Overlapping...	OMIM:613884
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger...	ORPHA:896
Holoprosencephaly 14	Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl...	OMIM:619895
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Long eyelashes, Abnormality of peripheral nerve conductio...	ORPHA:48431
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Retinal detachment, Ventriculomegaly, Short stature, Posteriorly r...	OMIM:619833
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Scapular winging, Dental crowding, Ventricular septal defect, Single tr...	OMIM:617061
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Short stature, Nephroblastoma, Cleft palate, ...	ORPHA:1052
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology, Umb...	ORPHA:95717
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Thin upper lip vermilion, Dilation of Virchow-Robin spaces, Dental crowding, Ventricular septal d...	OMIM:300998
Chromosome 10Q26 Deletion Syndrome	Thin upper lip vermilion, Prominent fingertip pads, Congenital hip dislocation, Short stature, Si...	OMIM:609625
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega...	OMIM:614749
17Q23.1Q23.2 Microdeletion Syndrome	Long toe, Coxa magna, Short stature, Sandal gap, Long fingers, Patent ductus arteriosus, Patellar...	ORPHA:261279
Retinitis Pigmentosa 89	Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly	OMIM:618955
Intellectual Developmental Disorder, Autosomal Dominant 47	Wide mouth, Intrauterine growth retardation, Ventricular septal defect, Widely-spaced incisors	OMIM:617635
Ciliary Dyskinesia, Primary, 26	Situs inversus totalis, Absent outer dynein arms, Recurrent otitis media	OMIM:615500
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Optic nerve hypoplasia, Hy...	ORPHA:370959
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Bohring-Opitz Syndrome	Vesicoureteral reflux, Atrial septal defect, Dislocated radial head, Syndactyly, Short stature, C...	OMIM:605039
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Sandal gap, Renal hypoplasia/aplasia, Tapered finger, Thin vermilion borde...	ORPHA:1438
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Crumpled long bones, Short stature, Metaphyseal widening, Abnormal vitreous h...	ORPHA:2788
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Ventricular septal defect, Hypospadias, Unilateral renal agenesis,...	ORPHA:464306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Retinal detachment, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Short distal phalanx of toe, Abnormal mitral valve morphology, Short stature, Symphalangism affec...	ORPHA:1292
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Abnormality of the calcaneus...	ORPHA:163966
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Finger joint hypermob...	ORPHA:363705
Intellectual Developmental Disorder, Autosomal Recessive 47	Mitral valve prolapse	OMIM:616193
Neurocardiofaciodigital Syndrome	Syndactyly, Short stature, Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ven...	OMIM:619869
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr...	OMIM:619608
Arima Syndrome	Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chronic kidney disea...	OMIM:243910
Distal Deletion 3P	Short stature, Postaxial hand polydactyly, Cleft palate, Downturned corners of mouth, Thin vermil...	ORPHA:1620
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Short stature, Renal agenesis, Ectopic kidney, Absent thumb, Esopha...	OMIM:227646
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Renal ...	OMIM:615986
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f...	OMIM:601349
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Developmental And Epileptic Encephalopathy 90	Atrial septal defect, Fetal pyelectasis	OMIM:301058
Zellweger Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Short stature, Malabsorptio...	ORPHA:912
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Hypoplasia of deltoi...	OMIM:173800
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Genu v...	ORPHA:65759
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, High, narr...	OMIM:309800
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Tented upper lip vermilion, Dental crowding, Ventricular septal defect, Rocker bottom ...	OMIM:612582
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Short stature, Accessory oral frenulum, Postaxial polydactyly, Supernumerary to...	OMIM:617088
Joubert Syndrome 7	Encephalocele, Retinal dystrophy, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chro...	OMIM:611560
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, Arterial tortu...	OMIM:609192
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular acidosis, Tongue...	OMIM:614922
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hydroce...	OMIM:613330
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ...	OMIM:601927
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Smooth philtrum, Renal dysplasia, Short stature, Postaxial polydactyly, Abnormality of the dentit...	OMIM:300968
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Myhre Syndrome	Short philtrum, Hypoplastic iliac wing, Atrial septal defect, Short stature, Pericardial effusion...	OMIM:139210
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Hypospadias, Cleft upper lip, Conical tooth,...	OMIM:106260
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Ventricular septal defect, Abnormally large globe, Postnatal growth ret...	ORPHA:1655
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop...	OMIM:617895
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Renal insufficiency, Anophthalmia, Proteinuria, Postnatal gr...	ORPHA:90321
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst	OMIM:614970
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Microphthalmia, Retinal dysplasia	OMIM:615771
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Fused teeth, High palate, Atrial septal defect,...	ORPHA:93932
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Increased density of long bo...	OMIM:305620
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, H...	OMIM:241800
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Short stature, Arachnodactyly, Palmoplantar cutis gyrata, Abnormality of primary teeth,...	ORPHA:75496
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis	ORPHA:638
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Renal agenesis, Cleft uppe...	OMIM:164210
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly	OMIM:615433
Peroxisome Biogenesis Disorder 6A (Zellweger)	Epiphyseal stippling, Renal cyst	OMIM:614870
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypop...	ORPHA:171839
Histiocytosis-Lymphadenopathy Plus Syndrome	Hallux valgus, Ventricular septal defect, Short stature, Rocker bottom foot, Cardiomegaly, Campto...	OMIM:602782
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Short stature, Abnorma...	ORPHA:2315
Isolated Polycystic Liver Disease	Multiple renal cysts, Vascular dilatation	ORPHA:2924
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect, Growth delay, Short stature	OMIM:620211
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thin upper lip vermilion, Hiatus hernia, Pancreatic cysts, Renal cyst, Buphthalmos, Polycystic ki...	OMIM:610199
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Noonan Syndrome 13	Duplicated collecting system, Atrial septal defect, Overlapping toe, Tapered finger, Metatarsus a...	OMIM:619087
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep...	ORPHA:137675
Snijders Blok-Campeau Syndrome	Taurodontia, High palate, Widely spaced teeth, Perimembranous ventricular septal defect, Pulmonic...	OMIM:618205
Costello Syndrome	Ventricular septal defect, Abnormal dental enamel morphology, Short stature, Abnormality of the d...	ORPHA:3071
Lymphedema-Hypoparathyroidism Syndrome	Renal insufficiency, Short stature, Pulmonary lymphangiectasia, Mitral valve prolapse, Increased ...	OMIM:247410
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Renal cyst, Premature...	OMIM:113620
Cockayne Syndrome Type 2	Anophthalmia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely spaced p...	ORPHA:90322
Nephronophthisis 15	Polydactyly, Retinal degeneration, Nephronophthisis	OMIM:614845
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Dental crowding, Deep philtrum, Patent ductus arteriosus, Oligosacchariduria, Macroglossia, Campt...	ORPHA:397709
Diamond-Blackfan Anemia 21	Hallux valgus, Short stature, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial...	OMIM:620072
3Mc Syndrome 1	Dental crowding, Ventricular septal defect, Single interphalangeal crease of fifth finger, Cleft ...	OMIM:257920
Congenital Varicella Syndrome	Microphthalmia, Micromelia, Intrauterine growth retardation	ORPHA:291
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Ventricular septal defect, Proteinuria, Short stature, Hematuria, Tubulointerstitial...	OMIM:616901
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Ventricul...	OMIM:600373
Mass Syndrome	Arachnodactyly, Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse	OMIM:604308
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valga, Short distal ph...	OMIM:620073
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Short stature, Hydronephrosi...	OMIM:620141
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Ventricular septal defect, Hypospadias, Unilateral renal agenesis,...	ORPHA:464311
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis	OMIM:607598
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis	OMIM:185500
Lethal Infantile Mitochondrial Myopathy	Lethargy, Renal insufficiency, Cardiomyopathy	ORPHA:254857
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypoglycorrhachia, Lethargy	ORPHA:71277
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Hypospadias, Overlapping toe, Unilateral renal agenesis, Proximal place...	OMIM:616737
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, ...	OMIM:613404
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Leukoencephalopathy With Vanishing White Matter 1	Lethargy, Optic atrophy	OMIM:603896
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Postnatal growth retardation, Patent ductus arteriosus, Abnormal cardiac v...	ORPHA:2306
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Thin upper lip vermilion, Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syn...	OMIM:619121
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Shoulder dislocation, Atrial septal ...	OMIM:245600
Glycine Encephalopathy 1	Lethargy, Hyperglycinuria	OMIM:605899
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF ...	OMIM:616034
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve...	OMIM:619472
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Renal hypoplasia/aplasia, Postaxial han...	ORPHA:2166
Warburg Micro Syndrome 2	Overlapping toe, Asymmetry of the ears, Postnatal growth retardation, Cryptorchidism, Low anterio...	OMIM:614225
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Short stature, Tapered finger, Postnatal growt...	OMIM:605130
Trisomy X	Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Hip dysplasia, Renal hypoplasia/apl...	ORPHA:3375
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Optic atrophy, Hand...	ORPHA:60040
Incontinentia Pigmenti	Abnormal hand morphology, Abnormal toenail morphology, Spina bifida occulta, Abnormality of the n...	ORPHA:464
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose vein...	OMIM:153400
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi...	ORPHA:3078
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy	ORPHA:79283
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Posteriorly rotated ears, Optic nerve hypoplasia, Broad proximal phalanges of the hand, Abnormal ...	OMIM:607597
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Transaldolase Deficiency	Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Coarctation of aorta, Wide mo...	OMIM:606003
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Tibial bowing, High palate, Short philtrum, Clinodactyly of the 5th finger, Micr...	ORPHA:251028
Idiopathic Intracranial Hypertension	Papilledema, Pulsatile tinnitus, Vertigo, Depression, Lethargy	ORPHA:238624
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Patent ductus arteriosu...	ORPHA:369837
Stickler Syndrome Type 1	Cleft palate, Mitral valve prolapse, Abnormal epiphysis morphology, Long philtrum, Abnormal verte...	ORPHA:90653
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Hypoplastic ilia, A...	ORPHA:1860
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Joubert Syndrome 17	Preaxial polydactyly, Abnormal retinal morphology, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Noonan Syndrome 10	Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Mitral ...	OMIM:616564
6P22 Microdeletion Syndrome	Finger syndactyly, Hydrocephalus, Overfolded helix, Low-set ears, Clinodactyly, Hydronephrosis, H...	ORPHA:251046
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Hip dysplasia...	OMIM:208085
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Nephrocalcinosis...	ORPHA:79500
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Hypospadias, Short stature, External ear malformation, Cryptor...	ORPHA:2505
Feingold Syndrome 1	Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Esophageal atresia, Patent ductus...	OMIM:164280
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Short stature, Cleft palate, High palate, Polydactyly, Short tibia	OMIM:300484
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Sandal gap, Single ...	OMIM:619951
20P13 Microdeletion Syndrome	Finger syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Highly arched eyebrow, Sy...	ORPHA:313781
Temple Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Small hand, Short foo...	ORPHA:254516
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Retinal pigmen...	OMIM:617102
Distal Deletion 10Q	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Functional abnormality of the blad...	ORPHA:96148
Jacobsen Syndrome	Long hallux, Abnormality of the anus, Broad hallux phalanx, Multicystic kidney dysplasia, Finger ...	ORPHA:2308
Holoprosencephaly 9	Anophthalmia, Short stature, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, ...	OMIM:610829
Toriello-Carey Syndrome	Aganglionic megacolon, Short stature, Postnatal growth retardation, Patent ductus arteriosus, Cle...	ORPHA:3338
Refsum Disease	Renal insufficiency, Short metacarpal, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, ...	ORPHA:773
Temtamy Syndrome	Aortic regurgitation, Highly arched eyebrow, Hip dislocation, Short 2nd toe, Talipes equinovarus,...	OMIM:218340
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Optic atrophy, Renal tubular dysfunction, Growth delay, Lethargy	ORPHA:289916
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Abnormality of the elbow, Cleft palate, Oligosacchariduria, Downturned corners of mou...	ORPHA:163649
Mohr Syndrome	Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Short stat...	OMIM:252100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Lethargy, Renal insufficiency, Optic atrophy, Cardiomyopathy	ORPHA:79312
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cys...	OMIM:270400
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Dextrocardia, Frontal balding, Long fingers, Cryptorchidism, Synophrys...	ORPHA:96092
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dyst...	ORPHA:2526
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin upper lip vermilion, Tented upper lip vermilion, Single transverse palmar crease, Thick lowe...	OMIM:620075
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Short stature, Renal agenesis, Preaxial hand polydactyly, Deep phil...	ORPHA:1297
Meningococcal Meningitis	Shock, Papilledema, Renal insufficiency, CSF pleocytosis, Hypotension, Hypoglycorrhachia, Letharg...	ORPHA:33475
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy	OMIM:618683
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Dental Anomalies And Short Stature	Short stature, Mitral valve prolapse, Oligodontia, Widely spaced teeth, Microdontia, Amelogenesis...	OMIM:601216
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Tented upper lip vermilion, Exaggerated cupid's bow, Bicuspid aortic valve, Dilation of Virchow-R...	OMIM:619720
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Hypospadias, P...	ORPHA:2211
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, Atrial septal defect, 2-4 finger sy...	OMIM:107480
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Short stature, Broad hal...	OMIM:154400
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Diamond-Blackfan Anemia 5	Short stature, Ventricular septal defect, Hypospadias	OMIM:612528
Alagille Syndrome	Hypoplasia of the ulna, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the u...	ORPHA:52
Edinburgh Malformation Syndrome	Frontal hirsutism, Hydrocephalus	OMIM:129850
Joubert Syndrome With Oculorenal Defect	Encephalocele, Low-set, posteriorly rotated ears, Renal insufficiency, Retinal dystrophy, Agangli...	ORPHA:2318
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect	OMIM:619881
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Severe short stature, Short stature, Abnormal h...	OMIM:309900
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short metatarsal, Finger clinod...	OMIM:617137
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Calcaneovalgus deformity, Patent foramen ovale, Finger syndactyly, Cleft...	OMIM:256520
Oculodentodigital Dysplasia	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu...	ORPHA:2710
Microphthalmia, Syndromic 13	Anteverted ears, Microphthalmia, Short stature, Chorioretinal coloboma	OMIM:300915
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Sensorineural hearing impairment, Optic atrophy, Hematuria, Chorioretinal col...	ORPHA:1473
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventric...	OMIM:619909
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Situs inversus totalis, Absent outer dynein arms, C...	OMIM:244400
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Lethargy, Hypertrophic cardiomyopathy	OMIM:613561
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Severe short stature, Posteriorly rotated ears, Micromelia, Bowi...	ORPHA:1865
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Dental crowding, Abnormal heart valve morphology, Short stature, Sandal gap, Recur...	ORPHA:230851
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Postnatal growth retardation, Cryptorchidism, Short 5th finger, Polydact...	ORPHA:397590
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Hypoplasia of the ulna, Short stature, Bicuspid aortic valve, Unilateral ...	OMIM:614900
Albers-Schönberg Osteopetrosis	Short stature, Facial palsy, Hearing impairment, Hydrocephalus, Optic atrophy, Genu valgum, Abnor...	ORPHA:53
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Optic atrophy, Increased CSF glycine concentration, Lethargy, Hypertrophi...	OMIM:614299
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Thin upper lip vermilion, Hyperextensibility of the finger joints, Ventricular septal d...	ORPHA:163979
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Posteriorly rotated ears, Hydrocephalus, Undetectable visual evoked potentials,...	ORPHA:163961
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy, Decreased CSF homovanillic acid concentration, Talipes equinovarus	ORPHA:101150
Mend Syndrome	Overlapping fingers, Short stature, Broad hallux, Overlapping toe, Asymmetry of the mouth, Long f...	ORPHA:401973
Marcus-Gunn Syndrome	Postnatal growth retardation, Cleft lip, Nephrolithiasis, Cleft palate, Abnormal heart morphology	ORPHA:91412
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Cardiofaciocutaneous Syndrome 4	Short stature, Optic nerve hypoplasia, Ventricular septal hypertrophy, Palmoplantar hyperkeratosi...	OMIM:615280
Noonan Syndrome 5	Short stature, Wide mouth, Thick vermilion border, Pulmonic stenosis, Atrial septal defect, Cubit...	OMIM:611553
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Proximal femoral metaphyseal irregularity, Subretinal deposits, Early os...	ORPHA:397715
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Intrauteri...	OMIM:616910
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Abn...	OMIM:239300
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Postaxial hand polydactyly, Esop...	OMIM:216360
Microtia	Holoprosencephaly	ORPHA:83463
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Pierre-Robin sequence...	OMIM:620183
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Legius Syndrome	High, narrow palate, High palate, Supravalvar pulmonary stenosis	OMIM:611431
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Cleft palat...	OMIM:247200
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Renal insufficiency, Ketonuria, Macular coloboma, Pulmonary embolism, Hemolytic-uremic syndrome, ...	ORPHA:79282
Krabbe Disease	Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Hydrocephalus, Opti...	OMIM:245200
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agene...	OMIM:236500
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid...	ORPHA:2750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Ventriculomegaly, Remnants of the hyaloid vascular system, Opt...	OMIM:614643
Micro Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Shor...	ORPHA:2510
Campomelia, Cumming Type	Multicystic kidney dysplasia, Bowing of the long bones, Micromelia, Pancreatic cysts, Cleft palat...	ORPHA:1318
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Syndactyly, Brachydactyly, Short stature, Intestinal malrotation, Singl...	OMIM:614701
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Vasculitis, Hematuria, Aortic dissection, Glossitis, Abdominal...	ORPHA:397
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia, Ventricular septal defect, Hypoplasia of teeth	OMIM:234050
Rabson-Mendenhall Syndrome	Atrial septal defect, Dental crowding, Ventricular septal defect, Short stature, Abnormality of t...	ORPHA:769
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Short stature, Rhizomelia, Single transverse palmar crease, Narrow mou...	OMIM:614114
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Sensorineural hearing impairment, Optic atr...	OMIM:615636
Epidermal Nevus Syndrome	Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent ductus arteriosus, Atrial septal defect, Intrauterine growth retardation, Patent foramen o...	OMIM:620327
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Trisomy 10P	Thumb contracture, Abnormality of the kidney, Abnormality of the hand, Short toe, Ulnar deviated ...	ORPHA:171929
Cerebellofaciodental Syndrome	Ventricular septal defect, Short stature, Single transverse palmar crease, Tapered finger, Dental...	OMIM:616202
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Atrial septal defect, Exaggerated median to...	OMIM:312870
Weill-Marchesani Syndrome 2	Short metatarsal, High palate, Broad metacarpals, Short metacarpal, Short stature, Patent ductus ...	OMIM:608328
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Recurrent otitis media, Dextrocardia	OMIM:611884
Leopard Syndrome 3	Short stature, Growth delay, Abnormal aortic valve morphology, Abnormal mitral valve morphology, ...	OMIM:613707
Neurooculorenal Syndrome	Mixed hearing impairment, Dextrocardia, Highly arched eyebrow, Short hallux, Aqueductal stenosis,...	OMIM:620305
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Protruding tongue, Conotruncal defect, Coarctation of a...	ORPHA:96147
Opitz Gbbb Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cleft upper lip, Rectourethral ...	OMIM:300000
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, Short stature,...	OMIM:145420
Renal Agenesis	Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Renal age...	ORPHA:411709
Alazami Syndrome	Postnatal growth retardation, Wide mouth, Slender long bone, Thick vermilion border, Short philtr...	ORPHA:319671
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi...	OMIM:619758
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy	OMIM:618805
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Retinal dystrophy, Postaxia...	OMIM:608091
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Pursed lips, Patent ductus arteriosus, Aglossia	OMIM:241310
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Alopecia, Cryptorchidism, Fine hair, Low-set ears, Microphthalmia, Intrauterine gr...	ORPHA:228390
Cranioectodermal Dysplasia 2	Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Microdontia, Pat...	OMIM:613610
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ...	ORPHA:457395
Laurence-Moon Syndrome	Short stature, Abnormality of the hand, Chorioretinal atrophy, Pigmentary retinopathy, Polydactyl...	OMIM:245800
Warburg Micro Syndrome 3	Postnatal growth retardation, Optic atrophy, Low anterior hairline, Clinodactyly of the 5th finge...	OMIM:614222
Chondrodysplasia Punctata 2, X-Linked Dominant	Ventriculomegaly, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Tracheal stenosis, Sparse ...	OMIM:302960
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolo...	ORPHA:59315
Velocardiofacial Syndrome	Ventricular septal defect, Short stature, Abnormality of the hand, Velopharyngeal insufficiency, ...	OMIM:192430
Seckel Syndrome 9	Recurrent urinary tract infections, Ventricular septal defect, Short stature, Pulmonary artery hy...	OMIM:616777
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Ventricular septal defect, Aganglionic megacolon, Malabsorption, Patent duct...	ORPHA:452
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Thoracoabdominal Syndrome	Hypospadias, Renal agenesis, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Transpositi...	OMIM:313850
Curry-Jones Syndrome	Ventriculomegaly, Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly,...	OMIM:601707
Kagami-Ogata Syndrome	Ventricular septal defect, Coxa valga, Long fingers, Patent ductus arteriosus, Limb undergrowth, ...	OMIM:608149
Temple Syndrome	Short stature, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Small hand, Short foot, R...	OMIM:616222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly	OMIM:253800
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hematuria, Intrauterine gr...	OMIM:617021
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Severe short stature, Short stature, Rhizomelia, Arachno...	ORPHA:3379
Intellectual Disability-Strabismus Syndrome	Hypospadias, Short stature, Rocker bottom foot, Abnormality of the dentition, Patent ductus arter...	ORPHA:363528
Cooper-Jabs Syndrome	Ventricular septal defect, Short stature, Proximal placement of thumb, Camptodactyly of finger, A...	ORPHA:1488
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Joubert Syndrome 3	Atrial septal defect, Open mouth, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d...	OMIM:619769
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Hyperextensibility of the finger joints, Dental crowding, Ventricular s...	OMIM:309520
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Short stature, Dextrocardia, Cystathioninuria, Tracheoesophageal fistula, Methylmalonic aciduria,...	OMIM:277380
Pallister-Hall Syndrome	Ectopic kidney, Atrial septal defect, Micropenis, Atrioventricular canal defect, Bifid uvula, Mes...	ORPHA:672
Tetrasomy 9P	Glue ear, Clinodactyly of the 5th finger, Micropenis, Patent foramen ovale, Dandy-Walker malforma...	ORPHA:3310
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Unilateral renal ag...	OMIM:617190
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Single transverse palmar crease, Abnormal medullary pyramid morphology...	ORPHA:79243
Joubert Syndrome 37	Short stature, Posteriorly rotated ears, Postaxial polydactyly, Cryptorchidism, Hydronephrosis, L...	OMIM:619185
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Prominent fingertip pads, Short stature, Arachnodactyly, Mitral valve prolapse, Wide mouth, Thick...	OMIM:300986
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphan...	OMIM:235255
Okamoto Syndrome	Tented upper lip vermilion, Urinary incontinence, Abnormally large globe, Primum atrial septal de...	ORPHA:2729
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, Growth delay, 3-Methylglutacon...	ORPHA:445038
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Cryptorchidism, Hydrocephalus, Long eyelashes, Clinodactyly, Ventri...	OMIM:618577
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Rod-cone dystrophy, Macular hypopigmentation, Polydactyly	OMIM:617119
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Noonan Syndrome 7	Short stature, Growth delay, Deep palmar crease, Thick vermilion border, Pulmonic stenosis, Atria...	OMIM:613706
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Patent ...	OMIM:616028
Infantile Sialic Acid Storage Disease	Cardiomegaly, Congestive heart failure, Hydrocephalus, Nephrotic syndrome, Fair hair, Metaphyseal...	OMIM:269920
Intellectual Developmental Disorder, Autosomal Dominant 43	Thin upper lip vermilion, Tapered finger, Gingival overgrowth, Hip dysplasia, High palate, Short ...	OMIM:616977
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Atrial septal defect, Short lingual frenulum, Ventricular septal defect...	OMIM:617360
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Atrial septal defect, Abnormal cerebral vascular morphology, Micromelia, Patent ductus arteriosus...	ORPHA:2637
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Severe short stature, Camptodactyly of finger, Micromelia, Hyd...	ORPHA:2635
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure, Hydrocephalus, Macroorchidism, Macrotia	OMIM:300886
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, High palate, Bilateral coxa valga, Atrial septal defect, Patent foram...	OMIM:615582
Kleeblattschaedel	Hydrocephalus, Elbow ankylosis	OMIM:148800
Multiple Sulfatase Deficiency	Broad hallux phalanx, Abnormality of retinal pigmentation, Short stature, Hydrocephalus, Sensorin...	ORPHA:585
2Q37 Microdeletion Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Short stature, Toe syndactyly,...	ORPHA:1001
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Short stature, Clef...	ORPHA:261236
Intellectual Developmental Disorder, Autosomal Recessive 65	Hypospadias, Secundum atrial septal defect, Contracture of the proximal interphalangeal joint of ...	OMIM:618109
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, Abnormal dental enamel morphology, Hypospadias, Abno...	ORPHA:96169
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Hypospadias, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 fin...	OMIM:615877
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Cyclic Vomiting Syndrome	Growth delay, Lethargy, Cardiomyopathy, Hearing impairment	OMIM:500007
Biotinidase Deficiency	Alopecia, Optic neuropathy, Myelopathy, Sensorineural hearing impairment, Optic atrophy, Organic ...	ORPHA:79241
Polydactyly, Postaxial, Type A8	Nail dysplasia, Short stature, Postaxial polydactyly, Genu valgum	OMIM:618123
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Broad hallux, Single transverse palmar crease, Retinal pi...	OMIM:614105
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased nerve conduction velocity, Chorioretinal atrophy, Lethargy, Homocitrullinuria, Hypopigm...	OMIM:238970
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Optic nerve hypoplasia, Submucous cleft hard palate, Disproportionate ...	OMIM:222765
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Sensorineural hearing impairment, Abnormal epip...	ORPHA:95716
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Short thumb, Nephroblastoma, Ventricular septal defect	OMIM:610832
Meckel Syndrome, Type 9	Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Hypospadias, Renal agenesis, Protruding tongue, Diastema, Postnatal gr...	OMIM:301040
Neurodevelopmental Disorder With Language Delay And Seizures	Growth delay, Ventricular septal defect	OMIM:619908
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Atrial septal de...	ORPHA:2519
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistula, Fetal pyelectasis...	ORPHA:49
Vitamin B12-Unresponsive Methylmalonic Acidemia	Lethargy, Renal insufficiency, Optic atrophy, Cardiomyopathy	ORPHA:27
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Short palm, Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-ob...	ORPHA:73246
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Rod-cone dystrophy, Bra...	OMIM:615633
Chops Syndrome	Ventricular septal defect, Short stature, High, narrow palate, Patent ductus arteriosus, Anomalou...	OMIM:616368
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Pulmonic stenosis	OMIM:619433
Dysosteosclerosis	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Short st...	ORPHA:1782
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate, Long philtrum, Open mouth	OMIM:618798
Cerebrooculofacioskeletal Syndrome 1	Ventriculomegaly, Rocker bottom foot, Coxa valga, Cryptorchidism, Sensorineural hearing impairmen...	OMIM:214150
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Short stature, Postnatal growth retardation, Upper limb asymmetry, Protruding ear, Polydactyly, C...	ORPHA:231140
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy, Ventriculomegaly, Increased CSF lactate	OMIM:312170
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Meta...	OMIM:224400
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Optic atrophy, Abnormal metacarpal morphology, Conductive hearing impairment, Brac...	ORPHA:93262
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect, Short stature, Short distal phalanx of finger	ORPHA:85202
Tetraploidy	Renal hypoplasia/aplasia, Radial club hand, Cleft palate, Short philtrum, Intrauterine growth ret...	ORPHA:3305
Kleefstra Syndrome 1	Natal tooth, Hypospadias, Single transverse palmar crease, Protruding tongue, Persistence of prim...	OMIM:610253
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Synophrys, Pulmonary arterial hypertension, Long eyelashes, Lethargy	OMIM:619064
Diaphanospondylodysostosis	Narrow pelvis bone, Multiple renal cysts, Cleft palate	ORPHA:66637
Diamond-Blackfan Anemia 10	Short stature, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Cleft palate,...	OMIM:613309
Diamond-Blackfan Anemia 12	Ventricular septal defect, Triphalangeal thumb	OMIM:615550
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia, Abnormal thumb morphology	OMIM:614082
Atelis Syndrome 2	Single transverse palmar crease, Diastema, Patent ductus arteriosus, Thick lower lip vermilion, S...	OMIM:620185
7Q31 Microdeletion Syndrome	Prominent fingertip pads, Postnatal growth retardation, Patent ductus arteriosus after birth at t...	ORPHA:251061
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Short thumb, Intrauterine growth retardation	OMIM:609054
Hajdu-Cheney Syndrome	Downturned corners of mouth, Periodontitis, Partial absence of toe, Hypospadias, Short stature, O...	ORPHA:955
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly	OMIM:619981
Holoprosencephaly-Caudal Dysgenesis Syndrome	Holoprosencephaly	ORPHA:2165
Hurler Syndrome	Short stature, Camptodactyly of finger, Angina pectoris, Abnormal heart valve morphology, Hydroce...	ORPHA:93473
Gabriele-De Vries Syndrome	Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Abnormality of the dentition, Long...	OMIM:617557
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Short stature, Metatarsus adductus, Patent ductus arteri...	ORPHA:293939
Mckusick-Kaufman Syndrome	Syndactyly, Hydroureter, Aganglionic megacolon, Congenital hip dislocation, Mesoaxial hand polyda...	OMIM:236700
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Urethral atresia, Conductive hearing impairment, Encephalocele...	ORPHA:2052
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Increased CSF lactate	OMIM:618225
Pontocerebellar Hypoplasia, Type 6	Lethargy, Increased CSF lactate	OMIM:611523
Ulbright-Hodes Syndrome	High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Humeroradial synostosis, Re...	ORPHA:3404
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,...	OMIM:607361
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Downturned corners of mouth, Short philtrum, Atrial septal defect, Hypos...	ORPHA:280
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Lacticaciduria, Aminoaciduria, Lethargy, Hypertrophic cardiomyopathy	OMIM:619386
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Arachnodactyly, Hydrocephalus, Shoulder dislocation, Umbilical hernia, Addu...	ORPHA:2181
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Syndactyly, Hypospadias, Short stature, Renal hypoplasia, Abn...	ORPHA:314679
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar holoprosencephaly, Holop...	OMIM:610828
Joubert Syndrome	Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Situs inversus totalis, Hydrocephalu...	ORPHA:475
Mitral Valve Prolapse 3	Mitral valve prolapse	OMIM:610840
Mitral Valve Prolapse 2	Mitral valve prolapse	OMIM:607829
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Pyruvate Dehydrogenase Deficiency	Ventriculomegaly, Osteolytic defects of the middle phalanx of the 4th toe, Growth delay, Intraute...	ORPHA:765
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyl...	OMIM:258860
King-Denborough Syndrome	Ventricular septal defect, Deep philtrum, High palate, Short stature	OMIM:619542
Jacobsen Syndrome	Brachydactyly, Ventricular septal defect, Hypospadias, Pyloric stenosis, Macular hypoplasia, Clin...	OMIM:147791
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation	ORPHA:3032
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Cleft palate, High palate	ORPHA:52055
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Synophrys, Shoulder dislocation, Conductive he...	ORPHA:536545
Trisomy 20P	Low anterior hairline, Protruding ear, Coarse hair, Low-set, posteriorly rotated ears, Finger syn...	ORPHA:261318
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Hydrocephalus, Optic atrophy...	ORPHA:3301
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, ...	ORPHA:79284
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Prominent superficial veins, Cor triatriatum, Recurrent urinary tract infections, Single transver...	OMIM:612541
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Clino...	ORPHA:373
Myhre Syndrome	Abnormal penis morphology, Short palm, Brachydactyly, Severe short stature, Hypospadias, Epispadi...	ORPHA:2588
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Abn...	ORPHA:1278
Bartsocas-Papas Syndrome 1	Ectopic kidney, Hypoplastic iliac wing, Micropenis, Short phalanx of finger, Patent foramen ovale...	OMIM:263650
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal...	ORPHA:2041
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Methylmalonic aciduria, Growth delay, Pulmonary arterial hypertension, Atrial sep...	OMIM:614857
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276556
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Broad metatarsal, Short metatarsal, 2-3 toe syndactyly, Sym...	ORPHA:1540
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Increased CSF...	OMIM:605711
Diamond-Blackfan Anemia 4	Atrial septal defect, Growth delay, Short stature	OMIM:612527
Optic Pathway Glioma	Papilledema, Hydrocephalus, Vertigo, Optic atrophy, Growth delay	ORPHA:2086
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Mild postnatal growth retardation, Short stature, Unilateral ren...	OMIM:101800
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Finger syndactyly, Ventricular septal defect, Ectopic kidney, Patent ductus...	ORPHA:1519
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Post...	ORPHA:1465
Peters Plus Syndrome	Ureteral duplication, Micromelia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, W...	ORPHA:709
Dahlberg-Borer-Newcomer Syndrome	Renal insufficiency, Brachydactyly, Short stature, Mitral valve prolapse, Nephropathy, Short dist...	ORPHA:1563
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectasia, Hydroc...	OMIM:620157
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Short stature, Arachnodactyly, Hiatus hernia, Hip dislo...	OMIM:617729
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata...	OMIM:611773
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Recurrent otitis media, Dextrocardia	OMIM:615482
Atrial Septal Defect 9	Secundum atrial septal defect, Bicuspid aortic valve	OMIM:614475
Cerebrooculofacioskeletal Syndrome 2	Rocker bottom foot, Camptodactyly of finger, Growth delay, Microphthalmia, Micropenis, Intrauteri...	OMIM:610756
Mucopolysaccharidosis Type 1	Short stature, Abnormal heart valve morphology, Congestive heart failure, Hydrocephalus, Split ha...	ORPHA:579
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Narrow greater sciatic notch, Short phalanx of finger, Broad metacarpals,...	ORPHA:508533
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Ventricu...	ORPHA:1647
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation,...	OMIM:614080
Hurler Syndrome	Aortic regurgitation, Hypoplasia of the femoral head, Short stature, Coxa valga, Heparan sulfate ...	OMIM:607014
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Dental malocclusion, Abnormal shoulder...	ORPHA:2115
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor...	OMIM:120330
Central Precocious Puberty In Male	Hydrocephalus, Abnormality of secondary sexual hair, Abnormality of the testis size	ORPHA:649929
Agnathia-Otocephaly Complex	Holoprosencephaly	OMIM:202650
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Fai...	ORPHA:2250
Thyroid Dyshormonogenesis 1	Growth delay, Umbilical hernia, Lethargy	OMIM:274400
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Cubitus valgus, Widely spaced teeth, Camptodactyly, Microdontia, Micropht...	OMIM:619694
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Short stature, Cryptorchidism, Optic atrophy, Low ante...	OMIM:615663
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276575
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Single ...	ORPHA:444072
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atrial septal defect, High palate, Pulmonic stenosis, Abnormality of the dentition	OMIM:618282
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligod...	OMIM:602418
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Vasculitis, Cheilitis, S...	ORPHA:2331
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitati...	OMIM:212140
Dural Sinus Malformation	Papilledema, Pulsatile tinnitus, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydroc...	ORPHA:97339
Microform Holoprosencephaly	Hypoplasia of penis, Tented upper lip vermilion, Short stature, Renal agenesis, Cleft palate, Oro...	ORPHA:280200
1Q41Q42 Microdeletion Syndrome	Holoprosencephaly	ORPHA:250999
Cardiofaciocutaneous Syndrome	Brittle hair, Thickened helices, Sparse hair, Atrial septal defect, Dystrophic fingernails, Low-s...	ORPHA:1340
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276580
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Coxa valga, Hydrocephalus, Se...	OMIM:109120
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma...	ORPHA:3121
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar...	ORPHA:2396
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Abnormal dental morpholog...	ORPHA:568
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Secundum atrial septal defect, High palate, Broad thumb, Clinodactyly, Long hallux	OMIM:620194
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Tapered finger, Patent ductus arteriosus, Small hand, Renal hypoplasia, Sev...	OMIM:620005
Donnai-Barrow Syndrome	Ventricular septal defect, Intestinal malrotation, Proteinuria	ORPHA:2143
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Downturned corners of mouth, Widely...	ORPHA:199
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Macular degeneration, Polydactyly, Rod-cone dystrophy, A...	OMIM:613464
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Thin upper lip vermilion, Secundum atrial septal defect, Postnatal growth retardation, 2-3 toe cu...	OMIM:620242
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Postaxial polydactyly, Renal hypoplasia, Pigmentary retinopathy, Rod-con...	OMIM:600151
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Abnormal hair whorl, Hydrocephalu...	OMIM:616362
Septooptic Dysplasia	Optic disc hypoplasia, Short stature, Optic nerve hypoplasia, Polydactyly, Short finger	OMIM:182230
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dental crowding, Vascular dilatation, Long fingers, Varicose veins, Thin vermilion border, Short ...	OMIM:618343
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Lethargy, Increased CSF lactate	OMIM:615838
Noonan Syndrome 14	Scapular winging, Short stature, High, narrow palate, Clinodactyly, Mitral valve prolapse, Wide m...	OMIM:619745
8P11.2 Deletion Syndrome	Hypoplasia of penis, Short stature, Patent ductus arteriosus, Mitral valve prolapse, Growth delay...	ORPHA:251066
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Pigmentary retinopathy, Car...	ORPHA:746
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Short stature, Cryptorchidism, 2-3 toe syndactyly, Anterior creases of earlobe...	ORPHA:314389
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Congenital Disorder Of Glycosylation, Type It	Ventricular septal defect, Short stature, Cardiomegaly, Dilated cardiomyopathy, Pierre-Robin sequ...	OMIM:614921
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Hi...	OMIM:271640
Classical Ehlers-Danlos Syndrome	Phalangeal dislocation, Hiatus hernia, Rectal prolapse, Hip dislocation, Mitral valve prolapse, B...	ORPHA:287
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:457279
Hydrocephaly-Low Insertion Umbilicus Syndrome	Abnormality of the urinary system, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmo...	ORPHA:2184
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, 3-Methylglutaconic aciduria, Short stature, Dilated cardiomyopathy	OMIM:618120
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Ectopic kidney, Triphalangeal thumb, Chor...	ORPHA:233
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Mend Syndrome	Crossed fused renal ectopia, Short stature, Broad hallux, Overlapping toe, Long fingers, 2-3 toe ...	OMIM:300960
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cardiac arrest, Hypoplastic toenails, Myofiber disarray, Increased CSF lactate, Lethargy, Hypertr...	OMIM:604377
Alexander Disease	Hydrocephalus, Increased CSF protein concentration, Apathy	OMIM:203450
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Patent ductus arteriosus, Mitral valve prolapse, High pal...	OMIM:104350
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Hypospadias, Proximal placement of thumb, Patent ductus arteriosus, Pierre-Robin sequ...	OMIM:217980
Aicardi-Goutieres Syndrome 4	Hydrocephalus, CSF lymphocytic pleiocytosis, Low-set ears, Intrauterine growth retardation, Ventr...	OMIM:610333
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Patent ductus arteriosus, 2-3 toe syndactyly, Irregular...	OMIM:618162
Bardet-Biedl Syndrome 20	Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal...	OMIM:619471
Trichohepatoenteric Syndrome 1	Villous atrophy, Ventricular septal defect, Hypospadias, Short stature, Avascular necrosis of the...	OMIM:222470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Hydrocephalus, Sensorineural hearing impairment, Microphthalmia, Retinal ...	OMIM:615249
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Highly ...	OMIM:613776
Cockayne Syndrome B	Dry hair, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Square pelvis bon...	OMIM:133540
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Tatton-Brown-Rahman Syndrome	Proportionate short stature, Deep philtrum, Patent ductus arteriosus, Short toe, Widely-spaced ma...	ORPHA:404443
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of mouth, Nephr...	OMIM:136140
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
White-Sutton Syndrome	Duplicated collecting system, Short stature, Optic nerve hypoplasia, Patent ductus arteriosus, Cl...	OMIM:616364
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Dental crowding, Hypospadias, Sandal gap, Postaxial polydactyly, Downtu...	OMIM:615761
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Short stature, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia	OMIM:614583
Microphthalmia, Syndromic 6	Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Protruding ear, Clinodactyly of ...	OMIM:607932
Williams-Beuren Region Duplication Syndrome	Short stature, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Long eyelashes, Horizont...	OMIM:609757
Mucopolysaccharidosis, Type Vii	Coarse hair, Narrow greater sciatic notch, Large iliac wing, Proximal tapering of metacarpals, Sh...	OMIM:253220
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Secundum...	ORPHA:2260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Retinal atrophy, Ventriculomegaly, Optic nerve hypop...	OMIM:236670
Cartilage-Hair Hypoplasia	Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Sparse hair, Lo...	ORPHA:175
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Abnormality of the hand, Spina bifida, Sparse eyebrow, Crypt...	OMIM:234100
Pseudoaminopterin Syndrome	Brachydactyly, Short stature, Single transverse palmar crease, Limited elbow movement, Overlappin...	ORPHA:221120
Larsen Syndrome	Short metacarpal, Ventricular septal defect, Short stature, Spatulate thumbs, Cleft upper lip, El...	OMIM:150250
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Abnormal pinna morphology, Hydrocephalus, Vertigo, Hypoplasia of the iris, Sev...	OMIM:614195
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Cleft pal...	OMIM:616367
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Aganglionic megacolon, Ventriculomegaly, Dislocated radial head	OMIM:304100
Intellectual Developmental Disorder, Autosomal Recessive 68	Synophrys, Hydrocephalus, Broad eyebrow, Protruding ear	OMIM:618302
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Short palm, Thin upper lip vermilion, Postnatal growth retardation, Small hand, Short foot, Thin ...	OMIM:241410
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, Arterial tortu...	OMIM:614816
Ring Chromosome 12 Syndrome	Syndactyly, Secundum atrial septal defect, High, narrow palate, Abnormal 5th finger morphology, G...	ORPHA:1439
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Acetabular dysplasia, Patent ductus arteriosus, Metaphyseal widening, Clubbing, Macr...	OMIM:617303
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyop...	ORPHA:158687
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop...	OMIM:615474
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Lethargy, Hyperlysinuria, Growth delay	OMIM:238750
Cystic Echinococcosis	Renal cyst, Abnormal heart morphology, Membranous nephropathy, Ovarian cyst, Hepatic cysts	ORPHA:400
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Cryptorchidism, Small hand, Short foot, Hip dysplasia, Chorioretinal hy...	ORPHA:398079
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Short stature, Abnormal hair pattern, Abnormal pinna morphology, Sparse eyebrow...	ORPHA:35173
Congenital Contractural Arachnodactyly	Arachnodactyly, Intestinal malrotation, Camptodactyly of finger, Tracheoesophageal fistula, Mitra...	ORPHA:115
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology,...	ORPHA:85438
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Distal Deletion 6P	Abnormality of the dentition, Orofacial cleft, Downturned corners of mouth, Hypoplasia of the iri...	ORPHA:96125
Trisomy 8P	Short fourth metatarsal, Abnormal atrioventricular connection, Single transverse palmar crease, F...	ORPHA:264450
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Hydrocephalus, Macrotia, Short stature	OMIM:300558
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Protruding tongue, Abnormal thumb morphology, Abnormal atrioventricular valve morph...	ORPHA:324410
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Severe short stature, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosu...	ORPHA:3047
Achondroplasia	Rhizomelia, Hearing impairment, Hip joint hypermobility, Bowing of the legs, Short proximal phala...	ORPHA:15
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Short stature, Cryptorchidism, Small hand, Short foot, Hip dysplasia, C...	ORPHA:398069
1Q44 Microdeletion Syndrome	Optic disc hypoplasia, Short stature, Synophrys, Hydrocephalus, Horseshoe kidney, Growth delay, A...	ORPHA:238769
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Agenesis of permanent teeth, Growth delay, Microphthalmia, Pelvic...	OMIM:617244
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Short stature, Abnormal morpho...	ORPHA:1307
Axial Mesodermal Dysplasia Spectrum	Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Tracheoesophageal fistula, Re...	ORPHA:1834
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Patent ductus arteriosus, Hypoplasia of the iris, Hypodontia, Microdontia	OMIM:602482
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cryptorchidism, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, High, narrow palate, Aortic isthmus hypoplasia,...	OMIM:180849
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Short 4th toe, Atrial s...	OMIM:615873
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ...	ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Intestinal malrotation, Genu valgum, Wide mouth, Growth d...	OMIM:617798
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Hypertrophy of the urinary bladder, High palate, Atrial septal defect...	ORPHA:280633
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Congenital Pulmonary Lymphangiectasia	Growth delay, Pulmonic stenosis, Chylopericardium	ORPHA:2414
Classic Galactosemia	Cryptorchidism, Depression, Lethargy, Delayed puberty	ORPHA:79239
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Tachycardia	ORPHA:276608
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria	OMIM:258900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Bicuspid aortic valve, High palate, Atrial septal defect, Vesicoureteral reflux,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Bicuspid aortic valve, High palate, Atrial septal defect, Vesicoureteral reflux,...	ORPHA:353277
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Cleft palate	OMIM:243440
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Dilated cardiomyo...	ORPHA:261250
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Hydrocephalus, Met...	OMIM:277400
Frontorhiny	Encephalocele, Low-set, posteriorly rotated ears, Camptodactyly of finger, Widow's peak, Finger c...	ORPHA:391474
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Abnormal renal morphology, Humeroradial synosto...	OMIM:207410
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis, Nasal polyposis, Recurrent otitis media, Absent inner and outer dynein arms	OMIM:614935
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Micropenis, Retinal...	OMIM:209900
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Renal dysplasia, Short femur, Dental crowdin...	OMIM:300990
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia, Proportionate short sta...	ORPHA:79345
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Portal hypertension, Cardiomegaly, Congestive hear...	ORPHA:465508
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial synostosis, Forearm un...	OMIM:251230
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Hypospadias,...	ORPHA:353281
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormal finger flexion crea...	ORPHA:314585
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Short stature, Pancreatic cysts, Chroni...	OMIM:208500
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Acromelic Frontonasal Dysplasia	Encephalocele, Cryptorchidism, Meningocele, Choroid plexus cyst, Patellar hypoplasia, Talipes equ...	ORPHA:1827
Opitz Gbbb Syndrome	High palate, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Hypospadias, Shor...	ORPHA:2745
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy, Tachycardia, Syncope, Palpitations	ORPHA:324575
Congenital Disorder Of Glycosylation, Type Iia	Macrodontia, Ventricular septal defect, Short stature, Protruding tongue, Diastema, Postnatal gro...	OMIM:212066
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Renal insufficiency, Toe syndactyly, Short stature, Mitral atresia, Ren...	ORPHA:140952
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Unilateral renal agenesis, Hiatus hernia, Mitral valve prolapse, Vesic...	OMIM:606408
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Holoprosencephaly	ORPHA:990
Intellectual Developmental Disorder, Autosomal Dominant 65	Posteriorly rotated ears, Single transverse palmar crease, Synophrys, Noncommunicating hydrocepha...	OMIM:619320
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Lethargy, Abnormal cardiac ventricular functio...	ORPHA:2394
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Neoplasm of the heart, Megacys...	ORPHA:2241
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Orofacial cleft, Downturned corners of mouth, Short philtrum, At...	OMIM:194190
Holoprosencephaly-Craniosynostosis Syndrome	Holoprosencephaly	ORPHA:2163
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Abnormal tricuspid val...	ORPHA:199276
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agene...	OMIM:617914
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Nephronophthisis 18	Retinitis, Hydrocephalus, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hypertens...	OMIM:615862
Fanconi Anemia, Complementation Group S	Macrodontia, Short stature, Proximal placement of thumb, Dental malocclusion, Narrow palate, Micr...	OMIM:617883
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Hypoplastic acetabulae, Fe...	OMIM:620076
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly, Hypospadias, Renal cyst	OMIM:605231
L1 Syndrome	Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Depression, Adducted thumb	ORPHA:275543
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Short metatarsal, Renal cyst, Widely spaced teeth, High palate, Nephronopht...	OMIM:266920
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Tooth agenesis, High palate, Cleft palate	ORPHA:1135
Phace Syndrome	Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho...	ORPHA:42775
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Hypospadias, Short stature, Camptodactyly of finger, Abnormality of the ureter...	ORPHA:2311
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Hypoplastic iliac wing, Tricuspid regurgitation, Short stature, Split hand,...	OMIM:253200
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Abnormal humer...	ORPHA:464329
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral...	ORPHA:93307
Multiple Sulfatase Deficiency	Ventriculomegaly, Broad hallux, Short stature, Hydrocephalus, Mucopolysacchariduria, Increased CS...	OMIM:272200
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Ventricular septal defect, Optic ...	OMIM:617506
Spondylodysplastic Ehlers-Danlos Syndrome	Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Atrial septal ...	ORPHA:536471
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border...	ORPHA:544254
Lateral Meningocele Syndrome	Neurogenic bladder, Dental crowding, Bicuspid aortic valve, Ventricular septal defect, Short stat...	OMIM:130720
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Short statur...	ORPHA:261323
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Overlapping fingers, Short stature, Protruding tongue, Secundum atrial septal...	OMIM:608779
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Deep philtrum, Abnormal heart morphology, Polydactyly, High palate	ORPHA:314655
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
X-Linked Mandibulofacial Dysostosis	Abnormal mitral valve morphology, Short stature, High palate, Pulmonic stenosis	ORPHA:1131
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Hypoplastic toenails, Low anterior...	ORPHA:235
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Downturned corners of mouth, Widely spaced teeth, Short philtrum, Atrial septal ...	OMIM:301044
Marshall-Smith Syndrome	Brittle hair, Bilateral cryptorchidism, Synophrys, Distal widening of metacarpals, Coxa vara, Cli...	OMIM:602535
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impai...	OMIM:615219
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Dilated cardiomyopathy	ORPHA:79230
Senior-Loken Syndrome 9	Retinal dystrophy, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Macular degene...	OMIM:616629
Diaphanospondylodysostosis	Nephrogenic rest, Disproportionate short-trunk short stature, Nephroblastomatosis, Cleft palate, ...	OMIM:608022
Multicentric Osteolysis, Nodulosis, And Arthropathy	Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro...	OMIM:259600
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:614300
Opitz-Kaveggia Syndrome	Single transverse palmar crease, Sparse hair, Prominent fingertip pads, Simple ear, Syndactyly, B...	OMIM:305450
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Aplasia/Hypoplasia of the bladde...	ORPHA:79404
Nance-Horan Syndrome	Microphthalmia, Retinal detachment, Short metacarpal, Protruding ear	ORPHA:627
Fibrochondrogenesis 1	Short palm, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypopl...	OMIM:228520
Monosomy 9Q22.3	Palmar pits, Hydrocephalus, Cardiac fibroma, Polydactyly, Low-set ears, Microphthalmia, Umbilical...	ORPHA:77301
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Short stature, Abnormality of the dentition, Secundum atrial septal defect, Wide mouth, Pulmonic ...	OMIM:615802
Constricting Bands, Congenital	Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, Ectopia cordis,...	OMIM:217100
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Tented upper lip vermilion, Overlapping toe, Thick vermilion border, High palate, Long philtrum, ...	OMIM:619383
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Ventricular septal defect, Hypospadias, Single transverse palmar cre...	OMIM:214100
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Protruding ear...	OMIM:152950
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Dicarboxylic aciduria, Proportionate short stature, Dilated cardiomyopathy...	ORPHA:71212
Idiopathic Uveal Effusion Syndrome	Subretinal fluid, Exudative retinal detachment, Microphthalmia, Increased CSF protein concentrati...	ORPHA:209956
Kabuki Syndrome	Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den...	ORPHA:2322
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Intrauterine growth retardation, Hypertrophic ca...	OMIM:618775
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Optic atrophy, Lethargy, Homocystinuria, Ventriculomegaly	ORPHA:395
Hydranencephaly	Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Postnatal growth retardation, Dilatat...	ORPHA:2177
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Hypertrophic cardiomyopathy, Patent foramen ovale	OMIM:614582
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Toe clinodactyly, Sandal gap, Optic nerve hypoplasia, Camptodactyly...	ORPHA:261349
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Overlapping toe, Posteriorly rotated ears, Pericardial effusion, Hydrocephalus,...	OMIM:617822
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper lip, Palmar pits, Hamarto...	OMIM:109400
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Hypospadias, Short stature, ...	ORPHA:124
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Pigmentary retinopathy, Arrhythmia, Lethargy, M...	OMIM:609015
Ciliary Dyskinesia, Primary, 45	Absent inner and outer dynein arms	OMIM:618801
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Bilateral cleft lip and pal...	OMIM:619339
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Prader-Willi Syndrome Due To Translocation	Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Patent foramen ovale, B...	ORPHA:177907
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Tented upper lip vermilion, Patent foramen ovale, Talipes equinovarus	OMIM:614961
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Conductive hearing impairment, Narrow internal auditory canal, Hear...	ORPHA:207
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Congenital malformation of the left heart, Wide penis, Downturned corners ...	ORPHA:3455
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m...	ORPHA:1071
1P36 Deletion Syndrome	Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Abnormality of the anus, Hypospa...	ORPHA:1606
Mucopolysaccharidosis Type 3	Cardiomegaly, Synophrys, Atrioventricular block, Coarse hair, Otitis media, Conductive hearing im...	ORPHA:581
Cutis Laxa, Autosomal Recessive, Type Iic	Prominent superficial veins, Dental crowding, Short stature, Overlapping toe, Pyloric stenosis, H...	OMIM:617402
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Tapered finger, High, narro...	OMIM:619312
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Dental crowding, Short stature, Fifth finger distal ...	OMIM:257850
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia, Micropenis	OMIM:308350
49,Xxxxy Syndrome	Holoprosencephaly	ORPHA:96264
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Facial palsy, Cryptorchidism, Hydrocephalus, Slender toe, Dandy-Walker malformation	OMIM:310400
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Abnormality of the dentition, Cleft palate, Mitral valve prolapse,...	ORPHA:90354
Meckel Syndrome, Type 6	Cleft upper lip, Postaxial hand polydactyly, Renal cyst, Horseshoe kidney, Cleft palate, Postaxia...	OMIM:612284
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Fanconi Anemia, Complementation Group Q	Short stature, Absent thumb, Esophageal atresia, Primum atrial septal defect, Anteriorly placed a...	OMIM:615272
47,Xyy Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Finger clinodactyly, Azoospermia, Mi...	ORPHA:8
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,...	OMIM:250220
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Camptodactyly of finger, Wrist swelling, Coxa vara, Mitral valve prolapse, Short fe...	ORPHA:2848
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Short stature, Renal cyst, Glossoptosis, Clinodactyly of the 5th fi...	ORPHA:2031
Propionic Acidemia	Increased level of hippuric acid in urine, Short stature, Cerebellar hemorrhage, Hyperglycinuria,...	OMIM:606054
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Cardiomegaly, Lethargy, Arrhythmia	ORPHA:42
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma,...	OMIM:191100
Bdv Syndrome	Atrial septal defect, Micropenis, Delayed puberty	OMIM:619326
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Ventricular septal defect, Tapered finger, Increased femoral anteversion, ...	OMIM:609460
Tetrasomy 5P	Overlapping toe, Posteriorly rotated ears, Short hallux, Postnatal growth retardation, Long finge...	ORPHA:3309
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Short stature, Ventricular septal defect, Tarsal synostosis, Elbow flexion contr...	OMIM:178110
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri...	ORPHA:447788
Typhoid	Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Lethargy, Arrhythmia	ORPHA:99745
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Cleft palate	OMIM:612913
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st...	OMIM:620067
Isolated Complex I Deficiency	Optic disc pallor, Optic neuropathy, Sensorineural hearing impairment, Increased CSF lactate, Pro...	ORPHA:2609
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Palmoplantar cutis gyrata, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the earlobes, Opt...	ORPHA:1555
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Single transverse palmar crease, Cryptorchidism, Synophrys, Hydrocephalus, Opti...	OMIM:614969
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Short stature, Cleft palate, Sh...	OMIM:614207
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Tricuspid regurgitation, Decreased CSF copper concentration, Cardiomegaly, Glandular...	OMIM:620306
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Lateral ventricle dilatation, Bradycardia, Ab...	OMIM:617397
Congenital Disorder Of Glycosylation, Type Ia	Thin upper lip vermilion, Villous atrophy, Pericarditis, Proteinuria, Pericardial effusion, Renal...	OMIM:212065
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Vascular dilatation,...	OMIM:616307
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Conductive hearing i...	OMIM:304120
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Ventricular septal defect, Intestinal malro...	OMIM:244450
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Long eyelashes, B...	OMIM:617523
Braddock Syndrome	Short stature, Posteriorly rotated ears, Unilateral renal agenesis, Abnormal hair pattern, Preaxi...	ORPHA:52047
Atelosteogenesis Type I	Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a...	ORPHA:1190
Aicardi Syndrome	Retinal detachment, Proximal placement of thumb, Spina bifida, Postnatal growth retardation, Chor...	OMIM:304050
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, G...	OMIM:614230
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Joubert Syndrome With Renal Defect	Encephalocele, Low-set, posteriorly rotated ears, Renal insufficiency, Aganglionic megacolon, Hig...	ORPHA:220497
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Depigmented fundus, Abnormal morphology ...	ORPHA:352731
Alagille Syndrome 1	Duplicated collecting system, Hypoplasia of the ulna, Ventricular septal defect, Multiple small m...	OMIM:118450
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Long fingers, Velopharyngeal insufficienc...	OMIM:617746
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar...	OMIM:187600
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Frontonasal Dysplasia 2	Encephalocele, Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine...	OMIM:613451
Diphallia	Atrial septal defect, Ureteral duplication, Rectoperineal fistula, Hypospadias, Renal malrotation...	ORPHA:227
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Proportionate short stature, Narrow mouth, Patent ductus arteriosus, G...	OMIM:613457
De Barsy Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Short stature, ...	ORPHA:2962
Holoprosencephaly 4	Semilobar holoprosencephaly	OMIM:142946
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruc...	OMIM:601389
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Aminoaciduria, Tetralogy of Fallot	OMIM:250620
Spondyloocular Syndrome	Long toe, Duodenal ulcer, Short stature, Arachnodactyly, Abnormality of the dentition, Femur frac...	OMIM:605822
Cockayne Syndrome A	Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win...	OMIM:216400
Coach Syndrome 2	Hypertension, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
Incontinentia Pigmenti	Ridged nail, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Hypoplasia of the fovea, Alopec...	OMIM:308300
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Patent ductus arteriosus, Arteri...	ORPHA:1556
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Hypospadias, Abnormal renal collecting system morphology, Patent duct...	ORPHA:17
Riboflavin Deficiency	Lethargy, Dicarboxylic aciduria	OMIM:615026
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, High palate, Coronary-pulmonary artery fistula	OMIM:619699
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Highly arched eyebrow...	ORPHA:1454
Radio-Renal Syndrome	Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Micromelia, Renal hypoplasia/...	ORPHA:3015
Gracile Bone Dysplasia	Short stature, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Micropenis, Ankylo...	OMIM:602361
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Ventriculomegaly, Proteinuria, Short stature, M...	OMIM:251300
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Increased CSF phenylalanine concentration	OMIM:233910
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Sparse hair, Clinodactyly of the 5th finger, Atrial sept...	OMIM:115150
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, Cleft palate, Narrow mouth, Atrial se...	ORPHA:1790
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Renal Hypoplasia, Bilateral	Proteinuria, Short stature, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst,...	ORPHA:97362
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Short stature, Renal hypoplasia/aplasia, Abnormal tibia morphology, Ab...	ORPHA:363700
Aica-Ribosuria Due To Atic Deficiency	Wide mouth, Thin upper lip vermilion, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside le...	OMIM:608688
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Single transverse palmar crease, Downturned corners of ...	OMIM:619522
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Dicarboxylic aciduria, Cardiac arrest, Ventricular tachycardia, Atrioven...	OMIM:212138
Juvenile Polyposis Of Infancy	Short stature, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Patent ductus...	ORPHA:79076
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Cleft palate, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, M...	ORPHA:306542
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Vesicoureteral reflux, Conductive hearing impairment, Abnormality of the wrist, M...	ORPHA:95699
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Short...	OMIM:619268
Laubry-Pezzi Syndrome	Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se...	ORPHA:99094
Noonan Syndrome 6	Growth delay, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis	OMIM:613224
Gm1 Gangliosidosis	Ventricular septal defect, Short stature, Camptodactyly of finger, Narrow mouth, Patent ductus ar...	ORPHA:354
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea, Lymph...	OMIM:602579
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Atrial septal defect, Microdontia, Bifid...	OMIM:613458
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Optic nerve hypoplasia, Delayed proximal femoral epiphyseal ossification, Sen...	ORPHA:226307
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa...	ORPHA:1215
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hydrocephalus, Sensorineural hearing impairment, Con...	ORPHA:53271
Vacterl Association With Hydrocephalus	Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormal he...	OMIM:276950
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Single transverse palmar crease, Conductive hearing impairment, Severe sensorineu...	OMIM:620186
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Ectopic kidney, Prominent interphalangeal joints,...	OMIM:135900
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal...	OMIM:612109
Semilobar Holoprosencephaly	Short stature, Hydrocephalus, Sensorineural hearing impairment, Hip dislocation, Depression, Grow...	ORPHA:220386
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Exaggerated cupid's bow, Single transverse palmar crease, Cleft lip, Deep philtrum, 2-3 toe synda...	OMIM:620098
Alobar Holoprosencephaly	Short stature, Hydrocephalus, Sensorineural hearing impairment, Hip dislocation, Depression, Grow...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Hydrocephalus, Sensorineural hearing impairment, Hip dislocation, Depression, Grow...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Hydrocephalus, Sensorineural hearing impairment, Hip dislocation, Depression, Grow...	ORPHA:93924
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Brachydactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasi...	ORPHA:364577
Griscelli Syndrome	Encephalocele, Abnormal eyebrow morphology, Short stature, Abnormal eyelash morphology, Silver-gr...	ORPHA:381
Donnai-Barrow Syndrome	Ventricular septal defect, Intestinal malrotation, Proteinuria, Non-acidotic proximal tubulopathy...	OMIM:222448
Alg9-Cdg	Villous atrophy, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology...	ORPHA:79328
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Short stature, Patent ductus arteriosus, High palate, Bifid uvula	OMIM:300472
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Atrial septal defect, Dental crowding, Left ventricular noncompaction cardiomyopat...	OMIM:300967
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly, Abnormal neuron morphology	ORPHA:163681
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Limited elbow move...	OMIM:261540
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Pagod Syndrome	Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Situs inversus totalis, Pu...	ORPHA:991
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy	ORPHA:30925
Chromosome 17Q12 Deletion Syndrome	Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect...	OMIM:614527
Limb Body Wall Complex	Encephalocele, Atrial septal defect, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia ...	ORPHA:2369
Medulloblastoma	Vertigo, Hydrocephalus, Cerebellar hemorrhage, Bilateral sensorineural hearing impairment, Lethar...	ORPHA:616
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Diminished motivation, Facial palsy, Urinary inc...	ORPHA:2356
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Penile freckling, Preaxial hand polydactyly, Foot polydactyly, Lymphoid nod...	ORPHA:210548
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Intracranial hemorrhage, Ventricular hypertrophy, Ventricular septal defect, Nephrolithiasis	ORPHA:369929
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect, Short stature	OMIM:619115
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy, Renal insufficiency	ORPHA:28
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Schinzel-Giedion Syndrome	Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly placed anus, Short philtrum, Hi...	ORPHA:798
Crigler-Najjar Syndrome	Lethargy, Vertigo, Hearing impairment	ORPHA:205
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy, Homocystinuria, Methylmalonic aciduria	OMIM:236270
Peroxisomal Acyl-Coa Oxidase Deficiency	Sensorineural hearing impairment, Optic atrophy, Hand polydactyly, Low-set ears, Abnormality of v...	ORPHA:2971
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus d...	ORPHA:261537
Noonan Syndrome 1	Ventricular septal defect, Hypospadias, Short stature, Postnatal growth retardation, High, narrow...	OMIM:163950
Joubert Syndrome 27	Retinopathy, Polydactyly	OMIM:617120
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Ventricular septal defe...	OMIM:235730
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Optic disc pallor, Hypospadias, Optic neuropathy, Sensorineural h...	OMIM:252010
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of finger, Abnorma...	ORPHA:284160
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Central Diabetes Insipidus	Lethargy, Nocturia, Depression	ORPHA:178029
Trichothiodystrophy 3, Photosensitive	Brittle hair, Short stature, Hearing impairment, Bilateral cryptorchidism, Low-set ears, Micropht...	OMIM:616395
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Recurrent urinary tract infections, Ventricular s...	OMIM:619229
Susac Syndrome	Vertigo, Sensorineural hearing impairment, Apathy, Lethargy, Tinnitus	ORPHA:838
Mowat-Wilson Syndrome	Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus d...	ORPHA:2152
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brach...	OMIM:613819
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer	OMIM:135150
Joubert Syndrome 35	Recurrent urinary tract infections, Multicystic kidney dysplasia, Single transverse palmar crease...	OMIM:618161
Hec Syndrome	Communicating hydrocephalus, Abnormal retinal vascular morphology, Vaginal hydrocele, Cardiomyopa...	ORPHA:2119
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Widely spaced teeth, Micropenis, Hypospadias, Cleft soft palate, Short stature, Tapered finger, S...	ORPHA:268261
Arboleda-Tham Syndrome	Secundum atrial septal defect, Downturned corners of mouth, Short philtrum, Atrial septal defect,...	OMIM:616268
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Short philtrum, High palate, Atrial sept...	ORPHA:96121
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Hypospadias, Short stature, Submucous cleft hard palate, Aortic root aneurysm, Chordee, Delayed p...	OMIM:618891
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Nephrotic syndrome, Deep pal...	ORPHA:505248
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Tapered finger, Cyst of the ductus choledochus, Patent ductus arteriosus...	OMIM:619480
Zttk Syndrome	Ventricular septal defect, Polyuria, Unilateral renal agenesis, Abnormality of the dentition, Sho...	OMIM:617140
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed proximal femoral epiphyseal ossification, Depression, Growth delay, Abnormal epiphysis mo...	ORPHA:90674
Papillary Tumor Of The Pineal Region	Hearing abnormality, Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Trichothiodystrophy	Ridged nail, Brittle hair, Protruding ear, Macular degeneration, Fragile nails, Tiger tail bandin...	ORPHA:33364
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Lethargy	OMIM:617105
Ileal Neuroendocrine Tumor	Hydronephrosis, Intestinal fistula, Tricuspid stenosis, Pulmonic stenosis	ORPHA:100078
Carnitine Palmitoyl Transferase 1A Deficiency	Sudden cardiac death, Renal tubular acidosis, Arrhythmia, Lethargy, Hypertrophic cardiomyopathy	ORPHA:156
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Cryptorchidism, Synophrys, Sensorineural hearing impairment, Proximal rena...	OMIM:615824
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Ventricular septa...	OMIM:243150
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Abnormal pericardium morphology, Pancreatic cysts, Renal cyst, A...	ORPHA:284
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect, Short stature	OMIM:618325
Fontaine Progeroid Syndrome	Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Oligodontia, Atrial septal de...	OMIM:612289
Tbck-Related Intellectual Disability Syndrome	Broad toe, Neurogenic bladder, Tented upper lip vermilion, Ventricular septal defect, High, narro...	ORPHA:488632
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Hypospadias, Dilated cardiomyopathy, Cleft palate, Microdontia, Long th...	OMIM:603736
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Bicuspid aortic valve, Patent ductus arteriosus, Thick lower lip vermilion, Narrow palate, Mitral...	ORPHA:555877
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Short stature, Unilateral renal agenesis, Patent ductus arteriosus, Co...	OMIM:620024
Myopathy With Extrapyramidal Signs	Growth delay, Tented upper lip vermilion, Ventricular septal defect	OMIM:615673
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Esophageal varix, Olig...	ORPHA:731
Hardikar Syndrome	Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Short statu...	OMIM:301068
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Bilateral cryptorchidism, Preaxial hand polydactyly, Postnatal ...	ORPHA:96179
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Optic atrophy, Low-set ears, Hypertrichosis	OMIM:612379
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Bicuspid aortic valve, Hydrocephalus, Aortic valve stenosis	OMIM:615599
Congenital Tricuspid Stenosis	Tricuspid stenosis, Bacterial endocarditis	ORPHA:95459
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Hiatus hernia, Short thumb, Clinodactyly, Long thum...	OMIM:300895
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Optic disc hypoplas...	OMIM:619306
Gorlin Syndrome	Arachnodactyly, Palmar pits, Cryptorchidism, Hydrocephalus, Brachydactyly	ORPHA:377
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Lethargy, Medullary nephrocalcinosis	OMIM:143880
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, 2-ethylhydracylic aciduria	OMIM:610006
Orofaciodigital Syndrome Type 14	Ventricular septal defect, Broad hallux, Accessory oral frenulum, Hamartoma of tongue, Deviation ...	ORPHA:434179
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Low-set ears...	OMIM:607131
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Short stature, Small hand, Short foo...	ORPHA:2714
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Gingival fibromatosis, Renal cyst, Cardiac rha...	OMIM:613254
Frontofacionasal Dysplasia	Encephalocele, Short stature, Microphthalmia, Absent inner eyelashes, Aplasia/Hypoplasia of the e...	ORPHA:1791
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93259
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro...	ORPHA:1942
N-Acetylglutamate Synthase Deficiency	Lethargy	OMIM:237310
Legius Syndrome	Short stature, Nephrolithiasis, Mitral valve prolapse, Diaphyseal dysplasia, Male urethral meatus...	ORPHA:137605
Esophageal Atresia	Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Renal agenesis, Cleft lip, ...	ORPHA:1199
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Se...	ORPHA:87
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc...	OMIM:618727
Intellectual Developmental Disorder, Autosomal Dominant 45	Arachnodactyly, Pulmonic stenosis	OMIM:617600
Cranioectodermal Dysplasia 3	Short stature, Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, Stage 5 chronic...	OMIM:614099
X-Linked Intellectual Disability, Armfield Type	Short stature, Patent ductus arteriosus, Abnormality of the elbow, Small hand, Cleft palate, Down...	ORPHA:85276
Craniotubular Dysplasia, Ikegawa Type	Short palm, Metaphyseal dysplasia, Ventricular septal defect, Short stature, Thick lower lip verm...	OMIM:619727
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Epiphyseal dysplasia, Bicuspid aortic valve, Hypospadias, Short stature...	OMIM:611962
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro...	ORPHA:2753
Aymé-Gripp Syndrome	Clinodactyly of the 5th finger, Short stature, Tapered finger, Pericardial effusion, Cryptorchidi...	ORPHA:1272
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Tapered finger, Arteria lusoria, 2-3 toe syndactyly, Anteriorly placed anus, Hig...	OMIM:618653
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Hypospadias, Short stature, Megacystis, Vesicoureteral reflux, Growth ...	ORPHA:209905
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Thickened helices, Protruding ...	ORPHA:1587
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Lethargy, Cerebral ischemia	ORPHA:927
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Metaphyseal widening, Hydrocephalus, Optic atrophy, Diaphyseal sclerosis, Long ...	OMIM:618476
Adnp Syndrome	Single transverse palmar crease, Urinary incontinence, Abnormal finger morphology, Protruding ear...	ORPHA:404448
Mucopolysaccharidosis Type 2, Severe Form	Abnormal dental morphology, Abnormal heart valve morphology, Abnormal pulmonary valve morphology,...	ORPHA:217085
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hyp...	OMIM:620025
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Autosomal Dominant Progressive External Ophthalmoplegia	Bipolar affective disorder, Ventricular arrhythmia, Facial palsy, Atrial fibrillation, Dilated ca...	ORPHA:254892
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H...	OMIM:618748
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Facial palsy, Hydrocephalus, Optic atrophy, Flared metaphysis, Coxa vara, Facial ...	OMIM:259700
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Premature graying of hair, Short palm, Sparse hair, Absent eyebrow, A...	OMIM:268400
Osteopetrosis, Autosomal Recessive 2	Cranial nerve compression, Hydrocephalus, Optic atrophy, Diaphyseal sclerosis, Genu valgum, Facia...	OMIM:259710
Pancreatic Agenesis-Holoprosencephaly Syndrome	Holoprosencephaly, Semilobar holoprosencephaly	ORPHA:556955
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Short stature, Hydrocephalus, White hair, Ocular albinism, Abnormal hip bone morp...	ORPHA:2720
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Synophrys, Hydrocephalus, Growth delay, Colpocephaly, Low-set ears, Ventriculomegaly, Brachydactyly	OMIM:620156
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Hydrocep...	OMIM:100800
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Decreased nerve conduction velocity, Sensorineural hearing impairment, Methylmalon...	ORPHA:1933
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Ventriculomegaly, Sandal gap, Supernumerary nipple, Cryptorchidism, Hydrocep...	ORPHA:1812
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Pulmonic stenosis, Protruding tongue	OMIM:614325
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Bilateral talipes equinovarus	OMIM:616521
Rabin-Pappas Syndrome	Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectasia, Hydroc...	OMIM:620155
Holoprosencephaly 1	Median cleft lip and palate, Short stature, Microphthalmia, Micropenis, Single ventricle	OMIM:236100
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Sudden cardiac death, Exercise-induced myoglobinuria, Cardiomegaly, Reduce...	OMIM:201475
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Ureteral duplication, Absent thumb, Absent radius, Ectopic kidney, Hydroceph...	OMIM:602200
Holocarboxylase Synthetase Deficiency	Growth delay, Lethargy, Alopecia, Organic aciduria	ORPHA:79242
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Growth delay, High palate, Talipes equinovarus, Hand clenching, Intrau...	OMIM:614653
Omodysplasia 1	Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Pulmonary arter...	OMIM:258315
H Syndrome	Hallux valgus, Abnormal eyebrow morphology, Alopecia, Short stature, Hearing impairment, Hydrocep...	ORPHA:168569
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal dental morphology, Abnormal heart valve morphology, Abnormal pulmonary valve morphology,...	ORPHA:217093
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Atrial septal defect, Microdontia, Vesi...	OMIM:194050
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Sandal gap, Low-set ears, Brachydactyly	ORPHA:2180
Trichinellosis	Facial palsy, Abnormal cerebrospinal fluid morphology, Vertigo, Retinal hemorrhage, Central retin...	ORPHA:863
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib...	OMIM:114290
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar...	ORPHA:97214
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Ventricular septal defect, Short stature, Deep palmar crease, High ...	OMIM:607721
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Lethargy, Arrhythmia	OMIM:255120
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Postaxial ha...	ORPHA:110
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus d...	ORPHA:261552
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Atrial septal defect, Congenital hip dislocation, Retinal dystrophy, Posteriorly rotated ears, Aq...	OMIM:619512
Mandibuloacral Dysplasia Progeroid Syndrome	Palmoplantar hyperkeratosis, High palate, Short philtrum, Patent foramen ovale, Short stature, De...	OMIM:619127
Pseudoxanthoma Elasticum, Forme Fruste	Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag...	OMIM:177850
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Urinary incontinence, Congestive heart failure, Hydrocephalus, ...	OMIM:616482
Isovaleric Acidemia	Lethargy, Cerebellar hemorrhage, Hyperglycinuria	OMIM:243500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia, Ventriculomegaly	OMIM:616538
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card...	ORPHA:26793
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Multicystic kidney dysplasia, Ventricu...	OMIM:606170
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Postnatal growth retardation, Dil...	OMIM:242840
Meester-Loeys Syndrome	Short stature, Arachnodactyly, Gingival overgrowth, Mitral valve prolapse, Ascending tubular aort...	OMIM:300989
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Hear...	ORPHA:141
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Ren...	OMIM:615560
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Abnormal periodontium morphology, High palate, Atrial septal defect, ...	ORPHA:480880
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect, Macroglossia, Growth delay, Short stature	ORPHA:93947
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a...	OMIM:613795
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Posteriorly rotated ears, Hydrocephalus, Optic atrophy, Right bundle branch block, Slender long b...	OMIM:618590
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri...	OMIM:612098
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morphology, Ascending aort...	ORPHA:141127
Dubowitz Syndrome	Syndactyly, Sparse scalp hair, Hypospadias, Single transverse palmar crease, Short stature, Postn...	OMIM:223370
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Short stature, Nephrocalcinosis, Distal renal tubular acidosis, Lethargy	OMIM:611590
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Short stature, Facial palsy, Hydrocephalus, Optic atrophy, Flared metaphysis, ...	OMIM:259720
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fis...	OMIM:614083
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short stature, Overlapping toe, Unilateral renal agenesi...	OMIM:213980
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr...	ORPHA:90065
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Thick eyebrow, Congenital hip dislocation, Short stature, Telangiectasia of the skin, Tapered fin...	OMIM:616007
Hemangioblastoma	Vertigo, Retinal capillary hemangioma, Hydrocephalus, Neurogenic bladder	ORPHA:252054
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Protruding ear, Vesicourete...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Protruding ear, Vesicourete...	ORPHA:363958
Mirage Syndrome	Hypospadias, Rocker bottom foot, Short stature, Radial club hand, Cryptorchidism, Hydrocephalus, ...	OMIM:617053
Peho Syndrome	Tapered finger, External ear malformation, Hydrocephalus, Optic atrophy, Macrotia, Ventriculomegaly	ORPHA:2836
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Widow's peak, Cupped ear, Low-set ears, Clinodactyly of the 5th finger, Microphth...	OMIM:167730
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis of the small joints of the hand, Arterial dissection, Arachnodactyly, Protrusio ac...	ORPHA:284984
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Abnormal eyelash morphology, Widow's peak, Bilateral microphthalmos, Abnormality ...	ORPHA:2399
Pseudoxanthoma Elasticum	Accelerated atherosclerosis, Renovascular hypertension, Mitral valve prolapse, White oral mucosal...	OMIM:264800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Lateral ventricle dilatat...	OMIM:613154
Biotinidase Deficiency	Alopecia, Sensorineural hearing impairment, Optic atrophy, Organic aciduria, Lethargy	OMIM:253260
Cockayne Syndrome Type 3	Renal insufficiency, Neurogenic bladder, Hydroureter, Mild postnatal growth retardation, Unilater...	ORPHA:90324
Caroli Disease	Esophageal varix, Polycystic kidney dysplasia	ORPHA:53035
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial...	OMIM:251000
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Hypospadias, Single transver...	ORPHA:459070
Evans Syndrome	Lethargy, Syncope, Epistaxis	ORPHA:1959
Restrictive Dermopathy	Ureteral duplication, Atrial septal defect, Hypospadias, Camptodactyly of finger, Short nail, Dex...	ORPHA:1662
Mogs-Cdg	Absent brainstem auditory responses, Alopecia, Atrial septal defect, Left ventricular hypertrophy...	ORPHA:79330
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	OMIM:248450
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, ...	ORPHA:534
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia	OMIM:614833
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductus arteriosus, ...	ORPHA:96191
Insulinoma	Hearing abnormality, Palpitations, Lethargy	ORPHA:97279
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Kabuki Syndrome 1	Congenital hip dislocation, High palate, Prominent fingertip pads, Atrial septal defect, Micropen...	OMIM:147920
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Delayed eruption of primary ...	OMIM:300952
17Q24.2 Microdeletion Syndrome	Thin upper lip vermilion, Abnormality of the wrist, Patent ductus arteriosus after birth at term,...	ORPHA:529962
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Short stature, Paronychia, Lethargy, Alopecia of scalp, Decreased testicular size	OMIM:201100
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Ventricular septal defect, Overlapping toe, Short foot, Patent ductus arteriosus...	OMIM:618268
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Lethargy	ORPHA:99828
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Congenital hip dislocation, Ventriculomegaly	OMIM:616355
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Metatarsus adductus, Postnatal growth retardation, Sensorineural hearing ...	ORPHA:300570
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Short stature, Fine hair, Protruding ear, Telangiectasia, Fragile na...	OMIM:601675
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico...	ORPHA:107
Nasu-Hakola Disease	Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly	ORPHA:2770
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Halperin-Birk Syndrome	Umbilical hernia, Semilobar holoprosencephaly	OMIM:618651
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Short stature, Patent ductus ar...	ORPHA:444077
Beare-Stevenson Cutis Gyrata Syndrome	Overlapping toe, Hypospadias, Posteriorly rotated ears, Hydrocephalus, Optic atrophy, Hypertensio...	OMIM:123790
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Abnormal ...	ORPHA:457284
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an...	ORPHA:95430
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil...	OMIM:119800
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Hydrocephalus, Optic atrophy,...	OMIM:619321
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr...	OMIM:212550
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hallux valgus, Bowing of the long bones, Mixed hearing impairment, Arachnodactyly, Phalangeal dis...	ORPHA:536467
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Mixed hearing impairment, Short stature, Long eyebrows, Widow's peak, Optic atr...	OMIM:201180
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Bilateral sensorineural hearing impairment, Left ventricular...	OMIM:618321
Shprintzen-Goldberg Craniosynostosis Syndrome	Arachnodactyly, Posteriorly rotated ears, Abnormal pinna morphology, Metatarsus adductus, Cryptor...	OMIM:182212
Peutz-Jeghers Syndrome	Intestinal obstruction, Esophageal neoplasm, Enlarged polycystic ovaries, Rectal prolapse, Abnorm...	ORPHA:2869
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, 2-5 finger syndactyly, Optic disc pallor, Severe short stature...	ORPHA:468631
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Familial Hypoaldosteronism	Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolemia, Proximal r...	ORPHA:427
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Increased density of long bones, Single transverse p...	OMIM:269150
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Short stature...	OMIM:619539
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Bicuspid aortic valve, Short stature, Secundum atrial septal defect, Postnatal growth r...	OMIM:613355
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb	OMIM:307000
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Short stature, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Mi...	OMIM:259770
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Cryptorchidism, Hydrocephalus, Small hand, Short foot, Hip dysplasia, Micropenis, ...	ORPHA:500055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg...	OMIM:615287
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Hypertrophic cardio...	ORPHA:96
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker malformation, Ventr...	OMIM:225790
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Scrub Typhus	Myocarditis, Lethargy, Renal insufficiency, Hypotension	ORPHA:83317
Keutel Syndrome	Ventricular septal defect, Short hallux, Premature fusion of phalangeal epiphyses, Deep philtrum,...	OMIM:245150
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper...	OMIM:216340
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Cystic renal dysplasia, Postaxial foot polydactyly, Poly...	OMIM:615989
Hypothyroidism Due To Tsh Receptor Mutations	Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology, Umb...	ORPHA:90673
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Perianal ...	OMIM:619573
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormality of the hand, Optic neuropathy, Abnormal retinal vascular morpholog...	ORPHA:909
Costello Syndrome	Hyperextensibility of the finger joints, Renal insufficiency, Ventricular septal defect, Short st...	OMIM:218040
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Abnormal tricuspid valve morphology, Conductive hearing impairment, ...	ORPHA:580
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas...	OMIM:617666
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb...	ORPHA:2108
Joubert Syndrome 1	Protruding tongue, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Macrogloss...	OMIM:213300
Posterior Urethral Valve	Renal insufficiency, Urinary incontinence, Dysuria, Postnatal growth retardation, Urethral stenos...	ORPHA:93110
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Tented upper lip vermilion, Single transverse palmar crease, Deep philtrum, Abnormal aortic arch ...	ORPHA:96334
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Low-set ears, Microphthalmia, Macrotia	OMIM:615145
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Xeroderma Pigmentosum, Complementation Group B	Short stature, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrop...	OMIM:610651
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Ta...	OMIM:601455
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Tapered finger, Intraventricular hemorrhage, Hydrocephalus, Hydrocele test...	OMIM:613603
Ramos-Arroyo Syndrome	Severe short stature, Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia,...	ORPHA:1051
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Supernumerary nipple, Cryptorchidism, Sensori...	OMIM:616580
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Abnormal pulmonary valve morphology, Abnormality of hair texture, Hydro...	ORPHA:667
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Proteinuria, Renal Fanconi syndrome, Glycosuria, Lethargy	ORPHA:263455
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, P...	ORPHA:2462
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Short fourth metatarsal, Septo-optic dysplasia, Single transverse pa...	OMIM:619841
Momo Syndrome	Delayed eruption of teeth, Short stature, Thick lower lip vermilion, Dental malocclusion, Bilater...	ORPHA:2563
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Umbilical hernia, Hearing ...	OMIM:601499
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Infla...	ORPHA:881
Lateral Meningocele Syndrome	Ventricular septal defect, Dental crowding, High, narrow palate, High palate, Smooth philtrum	ORPHA:2789
Infantile Liver Failure Syndrome 2	Lethargy, Cardiomyopathy	OMIM:616483
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Atrial septal defect, Prominent fingertip pads, Broad hallux phalanx, S...	ORPHA:363611
Witteveen-Kolk Syndrome	Glue ear, Proximal placement of thumb, Uplifted earlobe, Clinodactyly, Protruding ear, Intracrani...	OMIM:613406
Necrotizing Enterocolitis	Shock, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy	ORPHA:391673
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno...	OMIM:616914
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Pearson Syndrome	Renal insufficiency, Proteinuria, Postnatal growth retardation, Lacticaciduria, Renal cyst, Abnor...	ORPHA:699
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Combined Oxidative Phosphorylation Deficiency 15	Short stature, Ventricular septal defect, Single transverse palmar crease, Small hand, Ventricula...	OMIM:614947
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Exaggerated cupid's bow, Vesicovaginal fistula, Fused teeth, ...	OMIM:300896
Kinsship Syndrome	Thin upper lip vermilion, Short stature, Single transverse palmar crease, Coxa valga, Thick lower...	OMIM:619297
Developmental And Epileptic Encephalopathy 49	Thick eyebrow, Ventriculomegaly, Hydrocephalus, Optic atrophy, Long eyelashes, Macrotia, Dandy-Wa...	OMIM:617281
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, Optic atrop...	ORPHA:485421
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Ventricular tachycardia, Oliguria, Cardiomyopathy, Hypotension, Lethargy, ...	ORPHA:159
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Pulmonary embolism, Abnormal retinal vascular mo...	ORPHA:3205
Desmosterolosis	Low-set, posteriorly rotated ears, Severe short stature, Micromelia, Metatarsus adductus, Hydroce...	ORPHA:35107
Treacher Collins Syndrome 1	Cleft soft palate, Bilateral microphthalmos, Cleft palate, Abnormal heart morphology, Wide mouth,...	OMIM:154500
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Sensorineural hearing impairment, Optic atrophy, Dandy-Walker...	OMIM:304340
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia...	OMIM:616682
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Conductive hearing impairment, Spina bifida occulta,...	OMIM:218600
Citrullinemia Type I	Lethargy	ORPHA:247525
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Postnatal growth retardation, Renal cyst, Steatorrhea, Fat malabsorption	ORPHA:79303
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Sensorineural hearing impairment, Hypermyelinated retinal nerve fibers, Palmoplant...	OMIM:601812
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Renal cy...	OMIM:601803
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Thin upper lip vermilion, Hypospadias, Abnormality of canine, Tapered finger, Short thumb, Chorde...	ORPHA:477993
Holoprosencephaly 2	Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly	OMIM:157170
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Short stature, Conductive hearing impairment, Limb undergrowth, Abno...	ORPHA:1861
Osteogenesis Imperfecta, Type I	Femoral bowing, Mitral valve prolapse, Hip dysplasia, Finger joint hypermobility, Dentinogenesis ...	OMIM:166200
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Prominent fingertip pads, Optic atrophy, Low anterior hairline, Abnormality of visual evoked pote...	OMIM:616875
Cutis Laxa, Autosomal Recessive, Type Iib	Bowing of the long bones, Congenital hip dislocation, Hydrocephalus, Protruding ear, Intrauterine...	OMIM:612940
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri...	OMIM:302350
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Brittle hair, Sensorineural hearing impairment, Nephrocalcinosis, Gr...	OMIM:616084
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Small hand, Optic a...	ORPHA:50
Holoprosencephaly 3	Holoprosencephaly	OMIM:142945
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Finger syndactyly, Hypoplastic fingernail, Severe short stature, Hypos...	ORPHA:2658
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atrioventricular block...	ORPHA:398124
Acquired Von Willebrand Syndrome	Gastrointestinal angiodysplasia, Intracranial hemorrhage, Hematuria, Pulmonic stenosis, Aortic va...	ORPHA:99147
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Ketonuria, Short stature, Glycosuria	ORPHA:2089
Joubert Syndrome 23	Sensorineural hearing impairment, Polydactyly	OMIM:616490
Craniopharyngioma	Papilledema, Proportionate short stature, Myocardial infarction, Postnatal growth retardation, Hy...	ORPHA:54595
Caroli Syndrome	Esophageal varix, Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Atrial septal defect, Hip contracture, Bilateral fetal pyelectasis,...	OMIM:300868
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ...	OMIM:165590
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Cockayne Syndrome	Dry hair, Urinary incontinence, Retinal arteriolar constriction, Retinal degeneration, Retinal at...	ORPHA:191
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Short stature, Uplifted earlobe, Tapered finger, Posteriorly rotated ears, Long fing...	OMIM:616734
Isolated Exencephaly	Holoprosencephaly	ORPHA:563612
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials, Postaxial hand polydactyly, Short stature	ORPHA:1389
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Short stature, High, narrow palate, Renal tubular acidosis, Short phil...	OMIM:619575
Rodrigues Blindness	Short stature, Protruding ear, Fine hair, Sparse hair, Microphthalmia	OMIM:268320
Fraser Syndrome 3	Hypoplasia of penis, Short toe, Hydrocephalus, Cutaneous syndactyly, Ureteral agenesis, Stillbirt...	OMIM:617667
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Cleft palate, Ureterocele, Broad finger, Short finger, Micropenis, Ren...	ORPHA:1934
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Sandal gap, Single transverse palmar crease, Pyloric stenos...	OMIM:613177
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short ...	ORPHA:93325
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno...	ORPHA:2973
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Hypoplasia of penis, Absent eyelashes, Cryptorchidism, Abnormal...	ORPHA:861
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Metatarsus adductus, Absent cupid's bow, ...	ORPHA:513456
Coccidioidomycosis	Renal insufficiency, Pericarditis, Abnormal retinal morphology, CSF pleocytosis, Hydrocephalus, V...	ORPHA:228123
Mgat2-Cdg	Ventricular septal defect, Dental crowding, Patent ductus arteriosus, Abnormal heart morphology, ...	ORPHA:79329
C Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Short stature, Bilateral single transverse palmar c...	ORPHA:1308
Ring Chromosome 7 Syndrome	Hypospadias, Short stature, Single transverse palmar crease, Situs inversus totalis, Slender fing...	ORPHA:1449
Raine Syndrome	Bowing of the long bones, Hydroureter, Short stature, Mixed hearing impairment, Highly arched eye...	OMIM:259775
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Ventriculomegaly, Posteriorly rotated ears, Rocker bottom foot, Single transverse palmar crease, ...	OMIM:617527
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Staphylococcal Necrotizing Pneumonia	Shock, Lethargy, Hypotension	ORPHA:36238
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy, Facial palsy	OMIM:607483
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Secundum atrial septal defect, Metaphyseal widening, Subarterial ventricular septal defect, D-2-h...	ORPHA:99646
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus	ORPHA:398189
Skin Creases, Congenital Symmetric Circumferential, 1	Narrow mouth, Long fingers, Cleft palate, High palate, Long philtrum, Microphthalmia	OMIM:156610
Norrie Disease	Retinal detachment, Sensorineural hearing impairment, Optic atrophy, Hypoplasia of the iris, Buph...	OMIM:310600
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Short stature, Partial duplic...	OMIM:101400
B4Galt1-Cdg	Low-set ears, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Tenorio Syndrome	Thick eyebrow, Raynaud phenomenon, Hydrocephalus, Enuresis, Syncope, Ventriculomegaly, Hypertrich...	OMIM:616260
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Retinal atrophy, Hydrocephalus, Optic atrophy, Buphthalmos, Hypoplasia of the r...	OMIM:253280
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Axial Osteomalacia	Renal cyst	OMIM:109130
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Optic atrophy, Facial palsy	OMIM:615085
Coffin-Siris Syndrome 12	Synophrys, Low anterior hairline, Protruding ear, Patent foramen ovale, Simple ear, Hypospadias, ...	OMIM:619325
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Hear...	OMIM:256600
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen...	OMIM:601152
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Buphthalmos, Microphthalmia, Ventriculomegaly	OMIM:613150
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Severe intrauterine growth retardation, Overlapping fingers, Optic...	OMIM:609069
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Oculoectodermal Syndrome	Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Atrial s...	OMIM:600268
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Cardiomyopathy, Renal cell c...	ORPHA:892
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormal pinna morphology, Optic atrophy, Low anterior hairline, Prominent fingertip pads, Abnorm...	ORPHA:480898
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Leigh Syndrome	Ventricular septal defect, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Ren...	ORPHA:506
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Synophrys, Normal pressure hydrocepha...	OMIM:620351
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Cardiac arrest, Dilated cardiomyopathy, 3-Methylglutaric aciduria, Apathy, Hypotension...	ORPHA:20
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Hydrocephalus, Narrow iliac wing, Short stature	OMIM:616294
Proximal Spinal Muscular Atrophy	Hip dislocation, Elbow flexion contracture, Distal upper limb muscle weakness, Tongue fasciculati...	ORPHA:70
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Pituitary dwarfism, Optic nerve hypoplasia, Growth delay, Polydactyly, Abn...	ORPHA:95494
Distal Renal Tubular Acidosis	Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne...	ORPHA:18
Cholera	Tachycardia, Abnormality of renal excretion, Hypovolemic shock, Hypotension, Palmoplantar cutis l...	ORPHA:173
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Urinary incontinence, Lacunar stroke, Abnormality of visual evoked potentials, Nonarteritic anter...	OMIM:125310
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral renal agenesis, Shor...	OMIM:308205
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of visual evok...	ORPHA:320401
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hydrocephalus, Pericarditis	ORPHA:163596
Hartsfield Syndrome	Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly	OMIM:615465
Glutaric Acidemia Type 3	Glutaric aciduria, Ketonuria, Lethargy	ORPHA:35706
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Short stature, Fine hair, Protruding ear, Sparse hair, Microphtha...	ORPHA:1806
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Mitral valve prolapse, Pulmonary arterial hypertension, Recurrent otitis...	OMIM:620233
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, Hydrocephalus...	OMIM:261740
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Watson Syndrome	Short stature, Pulmonic stenosis	OMIM:193520
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Optic disc pallor, Mixed hearing impairment, Aortic regurgitation, H...	ORPHA:309282
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Posteriorly rotated ears, Short stature, Congenital sensorineural hearing impairment, Clinodactyl...	OMIM:617306
Lymphatic Malformation 7	Pericardial effusion, Varicose veins, Atrial septal defect	OMIM:617300
Encephalitis Lethargica	Lethargy, Bradycardia, Increased CSF protein concentration, Urinary incontinence	ORPHA:83600
Crouzon Syndrome	Conductive hearing impairment, Hydrocephalus, Optic atrophy, Atresia of the external auditory canal	OMIM:123500
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus, Penile hypospadias	OMIM:312190
Neurofibromatosis-Noonan Syndrome	Short stature, Secundum atrial septal defect, Thick vermilion border, Pulmonic stenosis, Cubitus ...	OMIM:601321
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Hip dislocation, Micropenis, Ascending tubular aorta aneurysm, Hip dyspl...	OMIM:617403
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Facial palsy, Abnormal cerebrospinal fluid morphology, CSF lymphocytic pleio...	ORPHA:68
Lymphatic Malformation 13	Patent ductus arteriosus, Long philtrum, Atrial septal defect, Patent foramen ovale, Smooth philtrum	OMIM:620244
Monosomy 9P	Hypospadias, Thin nail, Proximal placement of thumb, Highly arched eyebrow, Abnormality of the ta...	ORPHA:261112
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Dep...	ORPHA:3452
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Short stature, Deep philtrum, Anomalous origin ...	ORPHA:438213
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy, Decreased CSF homovanillic acid concentration, Hypotension	OMIM:608643
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Hypoplasia of penis, Urethrovaginal fistula, Cleft upper lip, Micromelia, Esophageal ...	ORPHA:93271
Mody	Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Intrauterine growth retardation	ORPHA:552
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Chylopericardium, Hematuria, Multiple renal cysts, Renal ...	ORPHA:538
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria	OMIM:201450
Friedreich Ataxia	Abnormal EKG, Congestive heart failure, Optic atrophy, Abnormality of visual evoked potentials, H...	OMIM:229300
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Downturned corners of mouth, Short philtrum, Atrial septal defect, Bifid uvula, Arachnodactyly, I...	ORPHA:500150
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric a...	OMIM:253270
Gaucher Disease	Ventriculomegaly, Mitral valve calcification, Proteinuria, Short stature, Abnormal pericardium mo...	ORPHA:355
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Posteriorly rotated ears, Rocker bottom foot, Campt...	OMIM:208150
Citrullinemia Type Ii	Enuresis, Delayed menarche, Mania, Lethargy	ORPHA:247585
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Glutaric aciduria, Vertigo, Chronic kidney disease, Subdural hemorrh...	ORPHA:25
D-Bifunctional Protein Deficiency	Split hand, Renal cyst, Hammertoe, High palate, Talipes equinovarus, Long philtrum	OMIM:261515
Genetic Transient Congenital Hypothyroidism	Umbilical hernia, Lethargy	ORPHA:226316
Neuroendocrine Neoplasm Of Appendix	Mechanical ileus, Tricuspid stenosis, Midgut malrotation, Adenocarcinoma of the colon, Ileal aden...	ORPHA:100079
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Hydrocephalus, Optic atrophy, Growth delay, Lateral ventricle dilatation, Optic n...	OMIM:612301
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous...	OMIM:175050
Beckwith-Wiedemann Syndrome	Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Macroglossia, Cardiomyopat...	OMIM:130650
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials, Optic atrophy, Short stature, Hearing impairment	ORPHA:702
Osteogenesis Imperfecta	Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Femoral bowing, Abnormal long b...	ORPHA:666
Maple Syrup Urine Disease	Lethargy, Increased level of hippuric acid in urine	OMIM:248600
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Hydrocephalus, Oligozoospermia, Abnormality of secondary sexual hai...	ORPHA:91348
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Hydrocephalus, Optic atrophy, Retinopathy, Hearing impairment	ORPHA:220295
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria, Lethargy	OMIM:210200
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Short stature, Hearing impairment, C...	ORPHA:636
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
Argininosuccinic Aciduria	Dry hair, Brittle hair, Aminoaciduria, Lethargy, Oroticaciduria, Trichorrhexis nodosa, Elevated C...	OMIM:207900
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction, Tinnitus, Hearing impairment	ORPHA:137817
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Renal cyst	OMIM:614862
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Hydrocephalus	ORPHA:2969
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Lip pit, Tapered finger, Hypodontia, Microphthalmia, Broad thumb, Abnorm...	ORPHA:1236
Ivic Syndrome	Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th...	ORPHA:2307
Late-Onset Isolated Acth Deficiency	Vertigo, Lethargy, Orthostatic hypotension, Hypotension	ORPHA:199299
Restrictive Dermopathy 1	Natal tooth, Ureteral duplication, Hypospadias, Rocker bottom foot, Congenital pseudoarthrosis of...	OMIM:275210
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic ...	ORPHA:2072
Mepan Syndrome	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:508093
Amelocerebrohypohidrotic Syndrome	Hydrocephalus, Short stature	ORPHA:1946
Kenny-Caffey Syndrome, Type 2	Papilledema, Severe short stature, Short stature, Retinal calcification, Microphthalmia, Thickene...	OMIM:127000
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Polydactyly, Pigmentary retinopathy	OMIM:616562
Fructose-1,6-Bisphosphatase Deficiency	Lethargy, Tachycardia, Increased urinary glycerol	OMIM:229700
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Ketonuria, Hyperglycinuria, Organic aciduria, Lethargy	OMIM:210210
Johanson-Blizzard Syndrome	Single transverse palmar crease, Anteriorly placed anus, Downturned corners of mouth, Atrial sept...	OMIM:243800
Desmosterolosis	Rhizomelia, Posteriorly rotated ears, Hydrocephalus, Cupped ear, Bilateral talipes equinovarus, T...	OMIM:602398
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy	OMIM:237300
Oculopalatocerebral Syndrome	Microphthalmia, Short stature, Cleft palate	OMIM:257910
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst	OMIM:617100
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Small earlobe, Dandy-Walker malformation, Genu varum, Long toe, Ab...	OMIM:264090
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ...	OMIM:609049
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly, Short femur, Metaphyseal spurs, Unilateral renal a...	OMIM:618188
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Single transverse palmar crease, Synophrys, Protruding ear, Chorioretinal ...	OMIM:619475
Beckwith-Wiedemann Syndrome	Ureteral duplication, Nephroblastoma, Cardiomegaly, Nephrolithiasis, Cleft palate, Hypercalciuria...	ORPHA:116
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Depression, Bilateral s...	ORPHA:309271
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Semilobar holoprosencephaly, Lobar holoprosencephaly	OMIM:618500
Infantile Neuroaxonal Dystrophy	Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol...	ORPHA:35069
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Peripheral pulmonary artery stenosis, Long philtrum	OMIM:123700
Cole-Carpenter Syndrome	Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Short stature, Intrau...	ORPHA:2050
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re...	ORPHA:168491
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Arachnodactyly, Broad hallux, Cubitus valgus, Dental malocclusion, High palate, Short finger, Mic...	OMIM:601552
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Intrau...	ORPHA:436252
Ebola Hemorrhagic Fever	Melena, Lethargy, Gastrointestinal hemorrhage	ORPHA:319218
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, A...	ORPHA:522077
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac...	OMIM:600145
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Alexander Disease	Facial palsy, Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Depression, Hypertension,...	ORPHA:58
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Thin upper lip vermilion, Toe clinodactyly, Ventricular septal defect, Optic nerve hypoplasia, Sa...	OMIM:620330
Genitourinary And/Or Brain Malformation Syndrome	Holoprosencephaly	OMIM:618820
Cirrhosis, Familial	Lethargy, Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine	OMIM:215600
Culler-Jones Syndrome	Short stature, Postaxial polydactyly, Cleft upper lip, Cleft palate, Micropenis	OMIM:615849
Lymphatic Malformation 6	Atrial septal defect, Varicose veins, Intestinal lymphangiectasia, Short stature	OMIM:616843
Proteus Syndrome	Hallux valgus, Finger syndactyly, Abnormal dental enamel morphology, Macrodactyly, Metatarsus val...	ORPHA:744
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Increased CS...	ORPHA:206443
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Micromelia, Postaxial hand polydactyly, Hypoplasia of the small intestine, Cys...	OMIM:200995
Resistance To Thyrotropin-Releasing Hormone Syndrome	Growth delay, Lethargy, Depression	ORPHA:99832
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Enuresis, Occipital meningo...	ORPHA:268810
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Short stature, Optic atrophy, Palmoplantar hyperkeratosis, Abnormal auto...	OMIM:231550
Basal Cell Nevus Syndrome 2	Palmar pits, Hydrocephalus, Vertigo	OMIM:620343
Neurofibromatosis, Type I	Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valg...	OMIM:162200
Marburg Hemorrhagic Fever	Shock, Renal insufficiency, Tachycardia, Pericarditis, Orchitis, Hypovolemia, Capillary leak, Sub...	ORPHA:99826
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Short stature, Aniridia, Unilateral renal agenesis	ORPHA:1064
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Chorioretinal hypopigmentation, Oroticaciduria, Chorioretinal atrophy	ORPHA:415
Hypothyroidism, Congenital, Nongoitrous, 5	Growth delay, Patent foramen ovale	OMIM:225250
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Short stature, Camptodactyly of finger, Postnatal growth ...	OMIM:309000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Retinal nonattachment, Buphthal...	OMIM:221900
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural...	ORPHA:309256
Icf Syndrome	Communicating hydrocephalus, Umbilical hernia, Short stature, Low-set ears	ORPHA:2268
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism, Low-set, posteriorly rotated ears	ORPHA:1237
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Lacticaciduria, Elevated urine acetoacetic aci...	OMIM:615751
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect	ORPHA:457351
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Glycerol Kinase Deficiency	Increased urinary glycerol, Short stature, Cryptorchidism, Growth delay, Low-set ears, Lethargy	OMIM:307030
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy, Homocystinuria, Methylmalonic aciduria	OMIM:277410
17Q11 Microdeletion Syndrome	Short stature, Bowing of the legs, Gastrointestinal stroma tumor, Abnormal internal carotid arter...	ORPHA:97685
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural...	ORPHA:309263
Methylmalonic Aciduria, Cbla Type	Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Elevated urine 2...	OMIM:251100
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Tufted hai...	ORPHA:573278
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Urete...	ORPHA:261265
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Short stature, Postnatal growth retardation, Hypoglycorrhachia, Macr...	ORPHA:168577
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Ethylmalonic aciduria, Cardiomyopathy	OMIM:201470
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Wrist flexion contracture, Multiple renal cysts, ...	OMIM:618733
Methylmalonic Aciduria, Cblb Type	Lethargy, Ketonuria, Methylmalonic aciduria	OMIM:251110
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P...	ORPHA:93111
Lhermitte-Duclos Disease	Trichilemmoma, Hydrocephalus, Hand polydactyly	ORPHA:65285
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, Micr...	OMIM:603457
Cryptococcosis	Abnormal retinal morphology, Hydrocephalus, Vitritis, Abnormal optic nerve morphology, Abnormalit...	ORPHA:1546
Osteootohepatoenteric Syndrome	Proteinuria, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Grade II vesicou...	OMIM:619377
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus, Short stature	OMIM:112240
Immunodeficiency 96	Growth delay, Multicystic kidney dysplasia	OMIM:619774
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Hypothyroidism, Congenital, Nongoitrous, 2	Growth delay, Umbilical hernia, Bradycardia, Lethargy	OMIM:218700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	4-hydroxyphenylacetic aciduria, Congestive heart failure, 4-Hydroxyphenylpyruvic aciduria, Intrau...	OMIM:617156
Glutaric Acidemia I	Glutaric aciduria, Hydrocephalus, Ketonuria, Lateral ventricle dilatation	OMIM:231670
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Growth delay, Ventricular septal defect, High palate	OMIM:619418
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Optic nerve hypoplasia, Tented philtrum, Renal cyst, Anteriorly placed anus, Buphtha...	ORPHA:495875
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst, Epiphyseal stippling	OMIM:601539
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Hypopigmentation of hair, Epistaxis, Ocular alb...	ORPHA:79430
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal cyst, Hypercalciuria, ...	ORPHA:99880
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Tetraamelia Syndrome 1	Renal agenesis, Cleft upper lip, Cleft palate, Urethral atresia, Hypoplastic pelvis, Microphthalm...	OMIM:273395
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, S...	ORPHA:791
Sotos Syndrome	Ureteral duplication, No permanent dentition, Vesicoureteral reflux, Atrial septal defect, Hyposp...	ORPHA:821
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hematuria, Moder...	OMIM:619525
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Peptic ulcer, Nephrolithiasis, Renal cyst, Hypercalciuria, ...	ORPHA:143
Oxoglutaric Aciduria	Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration, Short stature	ORPHA:31
Large Congenital Melanocytic Nevus	Hydrocephalus, Generalized hirsutism	ORPHA:626
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Epistaxis, High-output congestive heart failure, Hydrocephalus, Congestive he...	ORPHA:137667
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Transcobalamin Ii Deficiency	Lethargy, Methylmalonic aciduria	OMIM:275350
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephalus, Retinal hemorrhage, Hypoplasia...	OMIM:175780
Multiple Endocrine Neoplasia Type 1	Hematemesis, Shortened QT interval, Cranial nerve compression, Hypercalciuria, Nephrolithiasis, D...	ORPHA:652
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Hereditary Fructose Intolerance	Growth delay, Lethargy, Renal insufficiency, Chronic kidney disease	ORPHA:469
Joubert Syndrome 9	Encephalocele, Retinal dystrophy, Stage 5 chronic kidney disease, Ventriculomegaly	OMIM:612285
Oeis Complex	Congenital hip dislocation, Hydroureter, Cryptorchidism, Myelomeningocele, Hydrocephalus, Epispad...	OMIM:258040
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage, Hydrocephalus, Optic nerve compression	ORPHA:91350
Liver Disease, Severe Congenital	Chronic gastritis, Recurrent urinary tract infections, Ventricular septal defect, Left atrial enl...	OMIM:619991
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Bilateral cryptorchidis...	ORPHA:3042
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Growth delay, Abnormality of visual evoked potentials	OMIM:614457
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Renal cortical cysts	OMIM:609180
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Abnormal heart morphology, Tubulointe...	ORPHA:470
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Vertigo, Oliguria, Abnormal T-wave, ST segment depressi...	ORPHA:466650
Mpdu1-Cdg	Thin vermilion border, Renal cortical cysts	ORPHA:79323
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Linear Nevus Sebaceus Syndrome	Alopecia, Growth delay, Microphthalmia, Dandy-Walker malformation, Ventriculomegaly	ORPHA:2612
Kufor-Rakeb Syndrome	Urinary incontinence, Abnormal finger morphology, Bradykinesia, Apathy, Lethargy	ORPHA:306674
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Nephrolithiasis, Nephritis, Dandy-Walker malformation	OMIM:217090
Pineoblastoma	Papilledema, Retinoblastoma, Lethargy	ORPHA:251909
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Arachnodactyly, Posteriorly rotated ears, Sparse eyebrow, Large hand...	OMIM:617011
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials	OMIM:609304
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Noncommunicating hydrocephalus	OMIM:618699
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Semilobar holoprosencephaly	OMIM:129900
Gaucher Disease, Type Iiic	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Mitral stenosis	OMIM:231005
Pearson Marrow-Pancreas Syndrome	Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Leth...	OMIM:557000
Blepharophimosis, Ptosis, And Epicanthus Inversus	Sparse pubic hair, Microphthalmia, Cupped ear, Highly arched eyebrow	OMIM:110100
Meningioma	Papilledema, Urinary incontinence, Facial palsy, Cerebral hemorrhage, Ear pain, Hydrocephalus, Sy...	ORPHA:2495
Exstrophy-Epispadias Complex	Renal insufficiency, Urinary incontinence, Spina bifida, Cryptorchidism, Hydrocephalus, Epispadia...	ORPHA:322
Citrullinemia, Classic	Lethargy, Oroticaciduria	OMIM:215700
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy, Oroticaciduria	OMIM:311250
Cln5 Disease	Abnormality of visual evoked potentials	ORPHA:228360
Frontofacionasal Dysplasia	Cranium bifidum occultum, Absent inner eyelashes, Microphthalmia	OMIM:229400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Renal cortical cysts, Downturned corners of mouth, Long philtrum, Vesic...	OMIM:618548
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal...	OMIM:229600
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft...	OMIM:610188
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Sensorineural hearing impairment, Corneal neovascularization, Telangiectasia	OMIM:278730
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Facial palsy, Cardiomyopathy, Reduced left ventricular ejection fraction, Abnormality of visual e...	ORPHA:258
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Low-set, posteriorly rotated ears, Ventriculomegaly, Arachnodactyly,...	ORPHA:457359
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr...	ORPHA:447
Choanal Atresia	Polydactyly	ORPHA:137914
Pmm2-Cdg	Thin upper lip vermilion, Pericarditis, Proteinuria, Pericardial effusion, Long fingers, Wide mou...	ORPHA:79318
Metachromatic Leukodystrophy	Urinary incontinence, Decreased nerve conduction velocity, Abnormality of visual evoked potential...	ORPHA:512
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Hypoplasminogenemia	Hydrocephalus, Abnormality of the middle ear, Nephrolithiasis, Dandy-Walker malformation	ORPHA:722
Glycine Encephalopathy	Lethargy	ORPHA:407
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Abnormality of visual evoked potent...	OMIM:203700
Retinitis Pigmentosa 93	Rod-cone dystrophy, Retinal dots	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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