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Gene: Tbc1d32 MGI:2442827

Gene Summary

Name:

TBC1 domain family, member 32

Synonyms:

D630037F22Rik, C6orf170, Bromi, b2b2284Clo

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
polydactyly	Tbc1d32^em1(IMPC)J	HOM	E18.5
anophthalmia	Tbc1d32^em1(IMPC)J	HOM	E18.5
cleft palate	Tbc1d32^em1(IMPC)J	HOM	E18.5
abnormal embryo size	Tbc1d32^em1(IMPC)J	HOM	E18.5
preweaning lethality, complete penetrance	Tbc1d32^em1(IMPC)J	HOM	Early adult
abnormal body wall morphology	Tbc1d32^em1(IMPC)J	HOM	E18.5
hemorrhage	Tbc1d32^em1(IMPC)J	HOM	E18.5
edema	Tbc1d32^em1(IMPC)J	HOM	E18.5
facial cleft	Tbc1d32^em1(IMPC)J	HOM	E18.5
abnormal facial morphology	Tbc1d32^em1(IMPC)J	HOM	E18.5

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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X-ray

XRay Images Forepaw

7 Images

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Electroretinography 3

Fundus file

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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Gross Morphology Embryo E18.5

Images

4 Images

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Combined SHIRPA and Dysmorphology

Images

5 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Tbc1d32 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 Tbc1d32 (0 diseases)
Human diseases predicted to be associated with Tbc1d32 (2255 diseases)

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

The table below shows human diseases predicted to be associated to Tbc1d32 by phenotypic similarity.

Disease	Matching phenotypes	Source
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Thin upper lip vermilion, Atrial septal defect, Ventricul...	ORPHA:401935
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Abnormal lung morphology, Cleft palate, Upper limb phocomelia, Abnorm...	ORPHA:294975
Heterotaxy, Visceral, 2, Autosomal	Intestinal malrotation, Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Aspl...	OMIM:605376
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totali...	OMIM:616749
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Cleft palate, Renal cyst, Right aortic a...	OMIM:231060
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac...	OMIM:314390
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Hydranencephaly,...	OMIM:601355
Ritscher-Schinzel Syndrome 2	Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Protrud...	OMIM:300963
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g...	OMIM:306955
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Ventricular septal defect, Renal agenesis, Underdevel...	ORPHA:2516
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft upper lip, Cleft palate, Deep palmar crease, Microphthalmia	OMIM:600251
Fryns Microphthalmia Syndrome	Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia	OMIM:600776
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef...	OMIM:613885
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ...	OMIM:270100
Joubert Syndrome 15	Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Retinopathy	OMIM:614464
Holzgreve Syndrome	Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic le...	OMIM:236110
Biemond Syndrome Type 2	Microphthalmia, Hydrocephalus, Preaxial polydactyly, Coloboma	ORPHA:141333
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Abnormal lung lobation, Gast...	ORPHA:2538
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Dextrocardia, Spina bifida, Myelomeningocele, ...	ORPHA:2437
Verheij Syndrome	Thin upper lip vermilion, Truncus arteriosus, Ventricular septal defect, Optic nerve hypoplasia, ...	OMIM:615583
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,...	ORPHA:261272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Retinal dysplasia	OMIM:615041
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft p...	OMIM:615524
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati...	ORPHA:171844
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Double Outlet Right Ventricle	Ventricular septal defect, Intestinal malrotation, Depressed nasal bridge, Submucous cleft hard p...	ORPHA:3426
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ...	ORPHA:261243
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa...	ORPHA:185
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal...	OMIM:616589
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Truncus arteriosus, Smooth phi...	OMIM:611867
Gombo Syndrome	Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:233270
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Parachute mitral valve, Prominent nose, Short philtrum, Gastroesophageal reflux,...	OMIM:618316
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Polydactyly, Attenuation of retinal ...	OMIM:615990
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Kallmann Syndrome-Heart Disease Syndrome	Short lingual frenulum, Renal agenesis, Partial anosmia, Anomalous origin of left coronary artery...	ORPHA:2326
Mmep Syndrome	Median cleft lip, Ventricular septal defect, Orofacial cleft, Split foot, Triphalangeal thumb, Mi...	ORPHA:3434
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Broad nasal tip, Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Abnormal hear...	OMIM:239800
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Asplenia, Abnormal lung lobation, Finger clinodactyly, High pala...	ORPHA:99776
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Camptodac...	ORPHA:2008
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ven...	OMIM:618142
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Cardiac-Urogenital Syndrome	Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hypos...	OMIM:618280
Microphthalmia, Syndromic 9	Anophthalmia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Pelv...	OMIM:601186
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Hadziselimovic Syndrome	Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Anteverted nares, Promi...	OMIM:612946
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia...	OMIM:206920
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Orofaciodigital Syndrome Xviii	Brachydactyly, Sandal gap, Urinary incontinence, Prominent nasal bridge, Single transverse palmar...	OMIM:617927
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis...	ORPHA:887
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Skraban-Deardorff Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Absent cupid's bow, Cleft pa...	OMIM:617616
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft li...	ORPHA:1104
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Methimazole Embryofetopathy	Ventricular septal defect, Choanal atresia, Hypospadias, Esophageal atresia, Tracheoesophageal fi...	ORPHA:1923
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,...	OMIM:614779
Acrofacial Dysostosis, Weyers Type	Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Facial cleft...	ORPHA:952
Phenobarbital Embryopathy	Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Unilateral cleft lip,...	ORPHA:1919
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali...	ORPHA:1794
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery...	OMIM:619702
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Optic disc hypoplasia, Renal agenesis, Absent thumb, Aplastic anemia, ...	OMIM:300514
Renal Tubular Dysgenesis	Renotubular dysgenesis, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephrop...	ORPHA:3033
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus, Iris coloboma	OMIM:210350
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypoplasti...	ORPHA:3316
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Exaggerated cupid's bow, Ventricular septal defect, Depressed nasal bridge, Narro...	ORPHA:261120
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Atrial septal defect, Toe syndactyly, Thoracic aortic aneurysm, Intestinal malrotation, Ventricul...	OMIM:619657
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Re...	ORPHA:2863
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Schisis Association	Encephalocele, Renal agenesis, Micromelia, Spina bifida, Anencephaly, Tracheoesophageal fistula, ...	ORPHA:63862
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Abnorma...	OMIM:615415
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Ectopic kidney, Tracheoesophageal fistula, Orofacial cleft, Coarctatio...	ORPHA:268249
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Bifid nasal tip, Postaxial hand polydactyly, Tetralogy of Fall...	OMIM:136760
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Cataract, Spina bifida, Preaxial polydactyly, Spina bifida occ...	ORPHA:64754
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Chronic rhinitis	OMIM:617577
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle...	ORPHA:2631
Feingold Syndrome 1	Asplenia, High palate, Accessory spleen, Anteverted nares, Short thumb, Short toe, Esophageal atr...	OMIM:164280
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Facial cl...	OMIM:601357
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric...	ORPHA:210122
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upper lip, High, narrow palat...	OMIM:607597
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Abnormal atrial arrangement, Respiratory tract infection, Atele...	ORPHA:244
Orofaciodigital Syndrome Xvii	Median cleft lip, Prominent nose, Short middle phalanx of the 2nd finger, High, narrow palate, Pa...	OMIM:617926
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Patent ductus arteri...	ORPHA:3304
Cerebrooculonasal Syndrome	Anophthalmia, Postaxial hand polydactyly, Facial cleft, High palate, Widely spaced teeth, Solitar...	ORPHA:66625
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Trisomy 13	Anophthalmia, Median cleft lip, Ventricular septal defect, Displacement of the urethral meatus, A...	ORPHA:3378
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Esophageal atresia, Pa...	ORPHA:77298
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology	ORPHA:1208
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Br...	OMIM:601927
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de...	OMIM:265380
Congenital Contractural Arachnodactyly	Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Tracheoesophageal fistula, Aorti...	ORPHA:115
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,...	OMIM:600987
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly, Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Fryns Syndrome	Tented upper lip vermilion, Abnormal aortic arch morphology, High palate, Gastroesophageal reflux...	ORPHA:2059
Fetal Trimethadione Syndrome	Depressed nasal bridge, Ventricular septal defect, Hypospadias, Transposition of the great arteri...	ORPHA:1913
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners...	OMIM:136140
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Micr...	ORPHA:324416
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Cleft uppe...	OMIM:612561
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Anteverted nares, Depr...	OMIM:179613
Congenital Tracheomalacia	Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Broncho...	ORPHA:95430
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Anencephaly 2	Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate	OMIM:619452
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Floating-Harbor Syndrome	Long nose, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Oligodontia, Short philtrum, Gas...	ORPHA:2044
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Congenital Tracheal Stenosis	Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobation, Pulmonary artery at...	ORPHA:141127
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Atrial septal defect, Hepatomegaly, Pancytopenia, Dextrocardia, Homocys...	OMIM:277380
Mosaic Trisomy 1	Single transverse palmar crease, Orofacial cleft, Renal cyst, Finger clinodactyly, Pulmonary arte...	ORPHA:1692
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, High palate, Gastroesophageal reflux, Atrial septal ...	OMIM:609029
Esophageal Atresia	Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Laryngotracheomalacia, Gastroesophag...	ORPHA:1199
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t...	OMIM:618845
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Overriding aorta, Sandal gap, Bicuspid aortic valve, Ventricular septal...	ORPHA:477817
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Renal hypoplasia/aplasia, Tetralogy of Fallot, Cleft palate, Tooth age...	ORPHA:1166
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Bicuspid aortic valve, Abnormal hand morphology, Patent ductus ar...	ORPHA:228190
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Arachnodac...	ORPHA:261330
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ...	ORPHA:2712
Velocardiofacial Syndrome	Ventricular septal defect, Abnormality of the hand, Underdeveloped nasal alae, Velopharyngeal ins...	OMIM:192430
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Renal age...	ORPHA:1335
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Left superior vena cava drai...	OMIM:613759
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Atrial septal ...	OMIM:201000
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Cerebral hemorrhage, Abnormal hand morphology, Moyamoya phenomenon, Dilated cardiomyop...	OMIM:300845
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Bicuspid aortic valve, Short toe, Patent ductus arteriosus, Short...	OMIM:604381
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia	OMIM:611638
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Hypospadias, Cleft palate, Aortic ...	OMIM:220210
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Adams-Oliver Syndrome 4	Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ...	OMIM:615297
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno...	OMIM:617478
Maternal Phenylketonuria	Ventricular septal defect, Anteverted nares, Bifid distal phalanx of the thumb, Esophageal atresi...	ORPHA:2209
Trisomy 1Q	Wide nose, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, An...	ORPHA:261344
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio...	OMIM:607323
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Wide na...	OMIM:619995
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi...	ORPHA:2476
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Vascular ring, Atrial s...	OMIM:603387
Fanconi Anemia	Abnormal femur morphology, Leukopenia, Abnormality of the liver, High palate, Triphalangeal thumb...	ORPHA:84
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Postaxial hand polydactyly...	OMIM:241800
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly, Coloboma	OMIM:613094
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, High palate, Gastroesophageal reflux, Atrial septal ...	ORPHA:96170
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Femoral bowing, Macrogl...	OMIM:617022
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Preaxial ...	ORPHA:2549
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Anteverted nares, Esophageal atr...	ORPHA:59315
Nail-Patella Syndrome	Keratoconus, Biceps aplasia, Cataract, Glenoid fossa hypoplasia, Spina bifida, Triceps aplasia, P...	OMIM:161200
Opitz Gbbb Syndrome	High palate, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Recurrent aspirat...	ORPHA:2745
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H...	OMIM:611134
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Intellectual Disability, Wolff Type	Hypospadias, Camptodactyly of finger, Non-midline cleft lip, Thick lower lip vermilion, Bulbous n...	ORPHA:3080
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic...	OMIM:227646
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Hydrocephalus, Anorectal anomaly, Abnormality of the ureter, Tracheoeso...	ORPHA:1834
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysge...	OMIM:610023
Kapur-Toriello Syndrome	Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Cleft upper ...	OMIM:244300
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth...	ORPHA:2919
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac...	OMIM:619148
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Inguinal hernia, Abnormality of the dentition, Carious teeth, S...	ORPHA:1786
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Bardet-Biedl Syndrome 11	Polydactyly, Retinopathy	OMIM:615988
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Seckel Syndrome 9	Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ...	OMIM:616777
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Thakker-Donnai Syndrome	Ventricular septal defect, Anteverted nares, Bulbous nose, Tracheoesophageal fistula, Downturned ...	ORPHA:1780
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Micromelia, Situs ...	ORPHA:1908
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Absent thumb, Prominent nose, Short...	OMIM:617516
Delpire-Mcneill Syndrome	Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia	OMIM:619083
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Meacham Syndrome	Accessory spleen, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc...	OMIM:608978
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Macular dystrophy, Rod-cone dystrophy, Brachydactyly	OMIM:615983
Pallister-Hall Syndrome	Ectopic kidney, Abnormal lung lobation, Renal cyst, Anteriorly placed anus, Micropenis, Distal sh...	OMIM:146510
Intellectual Developmental Disorder, X-Linked 91	Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose	OMIM:300577
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Femoral retroversion, Fetal pyelectasis, Talipes equinovaru...	OMIM:616531
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Cleft upper lip, Complete...	OMIM:264480
You-Hoover-Fong Syndrome	Accessory oral frenulum, Cleft palate, Vascular ring, Coarctation of aorta, Clinodactyly, Double ...	OMIM:616954
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Prominent nasal bridge, Proximal placement of thumb, Tapered f...	ORPHA:251071
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Rena...	ORPHA:3186
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Sandal gap, Short toe, Perimembranous ventricular septal defect, Transposition ...	OMIM:617877
Burn-Mckeown Syndrome	Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Underdevelop...	OMIM:608572
Autosomal Recessive Amelia	Hypoplasia of penis, Non-midline cleft lip, Orofacial cleft, Aplasia/Hypoplasia of the lungs, Abn...	ORPHA:1027
Frontonasal Dysplasia 3	Microphthalmia, Facial cleft, Cleft palate	OMIM:613456
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums	ORPHA:401942
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos...	OMIM:614815
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, O...	OMIM:620025
Hydrolethalus	Tracheal atresia, Anophthalmia, Micromelia, Postaxial hand polydactyly, Submucous cleft hard pala...	ORPHA:2189
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate...	ORPHA:1200
Ring Chromosome 8 Syndrome	Anteverted nares, Abnormality of the ureter, Deviation of finger, Short nose, Hydronephrosis	ORPHA:1450
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Hydrocephalus, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the...	OMIM:253280
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
Vater/Vacterl Association	Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Paten...	OMIM:192350
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu...	ORPHA:1330
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Anteverted nares, Abnormality of the dentition, High palate, Short ph...	ORPHA:217340
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Joubert Syndrome 16	Encephalocele, Coloboma, Retinal dystrophy, Polydactyly	OMIM:614465
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent ductus ...	ORPHA:99050
Acces Syndrome	Recurrent respiratory infections, Hip dislocation, Tracheoesophageal fistula, Horseshoe kidney, H...	OMIM:619959
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ...	ORPHA:1791
Bardet-Biedl Syndrome 14	Rod-cone dystrophy, Polydactyly	OMIM:615991
Recombinant 8 Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Anteverted nares, Cleft...	ORPHA:96167
X-Linked Intellectual Disability, Siderius Type	Broad nasal tip, Cleft upper lip, Preaxial hand polydactyly, Orofacial cleft, Large hands	ORPHA:85287
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly...	OMIM:614091
Thoracoabdominal Syndrome	Hypospadias, Renal agenesis, Cleft upper lip, Patent ductus arteriosus, Hydrocephalus, Anencephal...	OMIM:313850
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal cardiac septum morphology, Hip dysplasia, Abnorm...	ORPHA:2370
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Lissencephaly Syndrome, Norman-Roberts Type	Wide nose, Rocker bottom foot, Wide nasal bridge, Dysphagia, Atrial septal defect, Hypoplastic sp...	ORPHA:89844
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Abnormality of th...	ORPHA:991
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Preaxial polydactyly, Narrow greater sciatic notch, Absent nasal bridge, Short tibia, Micropenis,...	OMIM:617925
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Keutel Syndrome	Ventricular septal defect, Recurrent bronchitis, Short hallux, Cartilaginous ossification of nose...	OMIM:245150
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad...	OMIM:120400
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a...	OMIM:619910
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Ventricular septal defect, Clef...	OMIM:612530
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,...	OMIM:616300
Constricting Bands, Congenital	Syndactyly, Cleft upper lip, Abnormal lung lobation, Facial cleft, Cleft palate, Hand polydactyly...	OMIM:217100
Renpenning Syndrome	Macrodontia, Hypospadias, Prominent nose, Abnormal thumb morphology, High, narrow palate, Cleft p...	ORPHA:3242
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia, Coloboma	OMIM:251505
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Prominent nose, High, narrow palate, Aortic ist...	OMIM:180849
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me...	OMIM:184260
Dextrocardia	Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnorma...	ORPHA:1666
Acromelic Frontonasal Dysostosis	Syndactyly, Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Cleft upper lip, Broad nasa...	OMIM:603671
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery at...	OMIM:616894
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Abnormal car...	ORPHA:93941
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,...	ORPHA:2257
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma...	OMIM:277170
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Gastroesophageal reflux, Micropenis, Humeroradia...	OMIM:134780
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly...	OMIM:615996
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Ventricular septal defect, Depressed nasal bridge, Esophageal atresia, Pulm...	OMIM:301030
Tetralogy Of Fallot	Abnormal nasal morphology, Thin vermilion border, Clinodactyly of the 5th finger, Tetralogy of Fa...	ORPHA:3303
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturned corners of mouth, Ar...	ORPHA:1110
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Prominent nose, High, narrow palate, Deep philtrum, Downturned corne...	ORPHA:435638
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hand monodactyly, P...	OMIM:214800
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Urethral stenosis, Depressed nasal ridge, Cleft palate, Apl...	ORPHA:1727
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr...	ORPHA:860
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Microphthalmia With Limb Anomalies	Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High pa...	ORPHA:1106
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis...	OMIM:609218
Marden-Walker Syndrome	Arachnodactyly, Dextrocardia, Hypospadias, High, narrow palate, Narrow mouth, Pyloric stenosis, R...	OMIM:248700
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Genu valgum, Cataract	ORPHA:1381
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Downturned corners of mouth, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly...	OMIM:220500
Mosaic Trisomy 16	Single transverse palmar crease, Abnormal lung morphology, Anteriorly placed anus, Atrial septal ...	ORPHA:1708
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, Polydactyly, High p...	OMIM:300484
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,...	ORPHA:508498
Catel-Manzke Syndrome	Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid...	OMIM:616145
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Bilobed right lung, Hydroce...	OMIM:612284
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Orofaciodigital Syndrome V	Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Sandal gap, Agangli...	OMIM:174300
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Cleft palate, Microphthalmia	OMIM:164180
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Chorioretinal...	ORPHA:3265
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Prominent no...	OMIM:251255
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrow...	ORPHA:1839
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac...	OMIM:217085
Ververi-Brady Syndrome	Wide nose, Broad nasal tip, Prominent nose, Bulbous nose, Transposition of the great arteries, Cl...	OMIM:617982
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Bulbous nose, Transposition of the great arteries, Talipes equinovarus, C...	OMIM:616789
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Facial cleft...	ORPHA:306542
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Tetralogy of Fallot	OMIM:187500
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormal optic disc mo...	ORPHA:65
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Prune Belly Syndrome	Congenital hip dislocation, Vesicoureteral reflux, Atrial septal defect, Multicystic kidney dyspl...	ORPHA:2970
Bardet-Biedl Syndrome 10	Polydactyly, Rod-cone dystrophy, Retinal dystrophy	OMIM:615987
Tetrasomy 15Q26	Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High palate,...	OMIM:614846
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Hydrocephalus, Spinal dysraphism, Abnormal aorti...	ORPHA:1926
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral renal hypoplas...	ORPHA:508488
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morpholog...	ORPHA:974
22Q11.2 Deletion Syndrome	Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Short philtrum, Gastr...	ORPHA:567
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Atrial septal defect, Promi...	OMIM:618494
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Ren...	ORPHA:139466
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Wide nose, Sandal gap, Bicuspid aortic valve, Ventricular septal defect...	OMIM:616652
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Treacher-Collins Syndrome	Hypoplasia of penis, Abnormal dental morphology, Abnormal dental enamel morphology, Choanal atres...	ORPHA:861
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea...	ORPHA:2091
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f...	OMIM:601349
Infantile Myofibromatosis	Neoplasm of the pancreas, Intestinal obstruction, Abnormality of the kidney, Gingival fibromatosi...	ORPHA:2591
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Esopha...	ORPHA:3412
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Hydroc...	OMIM:309801
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Split hand, Cl...	OMIM:600460
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Muscular ventricular septal defect...	OMIM:619227
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Esophageal atresia, Coronal hypospadia...	OMIM:619859
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Cleft ala nasi, Cutaneous finger ...	OMIM:219000
Mckusick-Kaufman Syndrome	Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ...	ORPHA:2473
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Bardet-Biedl Syndrome 9	Syndactyly, Bone spicule pigmentation of the retina, Cataract, Brachydactyly, Postaxial polydacty...	OMIM:615986
Townes-Brocks Syndrome 1	Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defect, Vesicourete...	OMIM:107480
Zaki Syndrome	Wide nose, Toe syndactyly, Anteverted nares, Renal agenesis, Long fingers, Patent ductus arterios...	OMIM:619648
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Depressed nasal bridge,...	ORPHA:2876
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Cleft upper lip, Duplication o...	OMIM:243310
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Single transverse palmar crea...	OMIM:618619
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect	OMIM:235750
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis	ORPHA:306550
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Alg3-Cdg	Abnormality of the gastrointestinal tract, Metaphyseal chondrodysplasia, Abnormal limb bone morph...	ORPHA:79321
Diprosopus	Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate	ORPHA:1681
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod...	OMIM:602418
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Vesicoureteral reflux, Pulmonary artery atresia, Micropenis, Hepatomegaly, Hypospadia...	OMIM:301056
Coffin-Siris Syndrome 4	Prominent interphalangeal joints, Short philtrum, Atrial septal defect, Pulmonary artery atresia,...	OMIM:614609
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Edema, Cleft palate, Talipes equinovarus, Microphthalmia, Intrauterine growth...	OMIM:616570
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, Vesicouret...	ORPHA:353281
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Abnormal ao...	ORPHA:1596
Charge Syndrome	Anophthalmia, Abnormal tibia morphology, Gastroesophageal reflux, Clinodactyly of the 5th finger,...	ORPHA:138
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Anteverted nares, Depressed nasal bridge, Hig...	OMIM:616920
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Smooth philtrum, Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of th...	OMIM:620113
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Hypospadias, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, P...	OMIM:175700
20Q13.33 Microdeletion Syndrome	Hallux valgus, Dilation of Virchow-Robin spaces, Hypospadias, Narrow nose, Tapered finger, Abnorm...	ORPHA:261311
Feingold Syndrome Type 1	Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Ne...	ORPHA:391641
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Tapered finger, Clef...	OMIM:239300
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis of carpal bone...	ORPHA:90652
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Pulmonary hypoplasia, Intestinal malrotation	ORPHA:3032
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic t...	OMIM:600001
Hyperlysinemia	Argininuria, Recurrent pneumonia, Depressed nasal ridge, Cystinuria, Pulmonary artery hypoplasia,...	ORPHA:2203
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Hartsfield Syndrome	Encephalocele, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/...	ORPHA:2117
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H...	OMIM:613091
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis...	OMIM:615993
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistula, Fetal pyelectasis...	ORPHA:49
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Long philtrum, Atrial septal defect, Microphthalmia, Short n...	OMIM:300887
8P23.1 Duplication Syndrome	Wide nose, Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, ...	ORPHA:251076
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Narrow mouth, Atrial septal defect,...	ORPHA:3469
Tonne-Kalscheuer Syndrome	Hypospadias, Velopharyngeal insufficiency, Dysphagia, Abnormal heart morphology, Downturned corne...	OMIM:300978
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Charlie M Syndrome	Finger syndactyly, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilio...	ORPHA:1406
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pulmonary hypoplas...	OMIM:202650
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Anteverted nares, Patent ductus arteriosus, Abnormal cardiac ventricle mor...	ORPHA:2306
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Abnormal carpal morpho...	OMIM:216100
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Ventricular septal defect, Prominent nasal bridge, Tapered finger, Patent ...	OMIM:613870
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Renal agenesis, Prominent nasal bridge, Hamartoma of tongue, B...	ORPHA:2754
3C Syndrome	Hypoplasia of penis, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, G...	ORPHA:7
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Patent ductus arteriosus, Microphthalmia, Bulbous nose, Wid...	ORPHA:250989
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Bartsocas-Papas Syndrome 1	Ectopic kidney, Hypoplastic iliac wing, Micropenis, Patent foramen ovale, Short phalanx of finger...	OMIM:263650
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost...	ORPHA:2756
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope...	OMIM:200990
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dil...	ORPHA:314588
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Recurrent respiratory infections, Median cleft palate	ORPHA:2432
Renal Agenesis, Bilateral	Renal agenesis, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abno...	ORPHA:1848
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Atrial septal defect, Tented upper lip vermilion, Dental crowding, Rocker bottom foot,...	OMIM:612582
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Single transverse palmar crease, Prominent nose, Widely spaced teeth, High...	OMIM:612474
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Patent foramen ovale, Hamart...	OMIM:269860
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Radial club hand, Esophageal...	OMIM:617053
Triploidy	Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Non-midline cleft li...	ORPHA:3376
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Bicuspid aortic valve, High palate, Gastroesophageal reflux, Atrial septal defec...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Bicuspid aortic valve, High palate, Gastroesophageal reflux, Atrial septal defec...	ORPHA:353277
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation, Abnormality of the ...	ORPHA:1705
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Down Syndrome	Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Short palm, Atriov...	OMIM:190685
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Deep philtrum, Depressed nasal ridg...	ORPHA:2162
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular se...	OMIM:619980
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Ventricular septal defect, Hypospadias, Decreased fibular diameter...	OMIM:616897
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Broad hallux, Ag...	OMIM:614749
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Polyuri...	OMIM:615994
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal...	ORPHA:2007
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Long nose, Downturned corners of mouth, High palate, Atrial septal defect, Clino...	OMIM:617602
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Bilateral single transverse palmar creases, Ventricular septal defec...	ORPHA:1770
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Cleft p...	OMIM:256050
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair...	ORPHA:33445
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contr...	OMIM:300166
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Underdevel...	ORPHA:2378
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Meckel Syndrome, Type 1	Occipital encephalocele, Lobulated tongue, Syndactyly, Cleft upper lip, Patent ductus arteriosus,...	OMIM:249000
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Polydactyly, Bra...	OMIM:615982
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Prominent nasal bridge, Tracheoesophageal fistula, Abnormal hip bone morphol...	ORPHA:3068
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Recurrent urinary tract infections, Cleft upper lip, Vesi...	OMIM:244600
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate	OMIM:172880
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Hi...	ORPHA:2879
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t...	ORPHA:1354
Koolen-De Vries Syndrome	Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Prominent fingerti...	OMIM:610443
Joubert Syndrome 17	Preaxial polydactyly, Abnormal retinal morphology, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Thanatophoric Dysplasia	Atrial septal defect, Abnormality of the kidney, Micromelia, Abnormal sacroiliac joint morphology...	ORPHA:2655
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Hydrocephalus, Polydactyly, Microphthalmia, Nephroblastoma...	OMIM:602501
Temtamy Syndrome	Short toe, Thick lower lip vermilion, Genu varum, Aortic aneurysm, Clinodactyly of the 5th finger...	ORPHA:1777
Weill-Marchesani Syndrome 3	Shallow anterior chamber, Microspherophakia, Brachydactyly, Ectopia lentis	OMIM:614819
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnormal femur morphology, Abnormal...	ORPHA:969
3Mc Syndrome 3	Cleft upper lip, Preaxial polydactyly, Facial cleft, Cleft palate, Micropenis, Horseshoe kidney, ...	OMIM:248340
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu...	ORPHA:980
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Abn...	ORPHA:2847
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Chromosome 18Q Deletion Syndrome	Proximal placement of thumb, Prominent nose, Downturned corners of mouth, Short philtrum, Choanal...	OMIM:601808
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous synda...	OMIM:236500
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S...	ORPHA:85167
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preax...	ORPHA:1120
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Hypospadias, Conical tooth, Cleft upper lip,...	OMIM:106260
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Cone-shaped epiphyses of the phalanges ...	OMIM:617781
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th fing...	OMIM:614701
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Pulmonary artery stenosis, P...	ORPHA:75389
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Kniest Dysplasia	Retinal detachment, Enlarged epiphyses, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal de...	ORPHA:485
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Bifid nasal tip, Cleft lip, P...	OMIM:619343
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge...	ORPHA:284169
C Syndrome	Micromelia, Clinodactyly, High palate, Dislocated radial head, Hepatomegaly, Short metacarpal, An...	OMIM:211750
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Metaphyseal widening, Abnormal lung lobation, Abnormal heart morphol...	OMIM:263210
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria...	OMIM:610205
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fis...	OMIM:614083
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ...	OMIM:614976
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
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
Trisomy 17P	Hypoplasia of penis, Prominent nose, Orofacial cleft, High palate, Clinodactyly of the 5th finger...	ORPHA:261290
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Rectal atresia,...	OMIM:613390
Meckel Syndrome	Ureteral duplication, Anophthalmia, Asplenia, Depressed nasal ridge, Urethral atresia, Accessory ...	ORPHA:564
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Hydr...	OMIM:614424
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower lip vermilio...	OMIM:249670
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares, Hypospadias	ORPHA:1355
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He...	OMIM:613807
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Clinodactyly, Rod-cone dystrophy	OMIM:615984
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Deep philtrum, Downturned corners of mouth, Bifid uvula, Anteverted nares, Depressed nasal bridge...	ORPHA:404440
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Hepatic fibrosis, Syndactyly, Hamartoma of tongue, Cleft upper lip...	OMIM:311200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d...	ORPHA:163979
Sweeney-Cox Syndrome	Asplenia, High palate, Short philtrum, Gastroesophageal reflux, 2-5 toe syndactyly, Patent forame...	OMIM:617746
Kleefstra Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co...	ORPHA:261494
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h...	OMIM:619879
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongu...	OMIM:616546
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Sh...	ORPHA:1507
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Anteverted nares, Postaxial polydactyly, Tapered finge...	OMIM:613792
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxi...	OMIM:614175
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upp...	OMIM:614294
Tarp Syndrome	Single transverse palmar crease, Glossoptosis, Atrial septal defect, Finger syndactyly, Tetralogy...	ORPHA:2886
Spondylo-Ocular Syndrome	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation	ORPHA:85194
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip...	ORPHA:411986
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Atrial septal defect, Absent gallbladder, Ventricular septal defect, Ch...	OMIM:300712
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b...	OMIM:612916
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger,...	OMIM:280000
Congenital Hydrocephalus	Hydrocephalus, Optic atrophy, Macular hypoplasia, Iris coloboma	ORPHA:2185
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of finger	OMIM:155050
Cat Eye Syndrome	Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total anomalous pulmonary ...	OMIM:115470
Gillespie Syndrome	Hypoplasia of the iris, Truncus arteriosus, Aniridia	OMIM:206700
X-Linked Intellectual Disability, Nascimento Type	Deep philtrum, Downturned corners of mouth, Neutropenia, Vesicoureteral reflux, Micropenis, Paten...	ORPHA:163956
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Hypospadias, Underdeveloped nasal alae, Metatarsus adductus, Sho...	ORPHA:436003
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radi...	ORPHA:1388
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia...	OMIM:263520
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Hydrolethalus Syndrome 2	Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Postaxial polydactyly, Preaxial po...	OMIM:615503
Rhiny	Short nose, Anteverted nares	OMIM:180360
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Single transverse palmar crease, Oligodontia, High palate, Short philtrum, Atria...	OMIM:617061
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic...	ORPHA:2001
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Microphallus, T...	OMIM:612651
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Elbow flexion c...	OMIM:617468
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Gast...	OMIM:619534
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Short nose, Anteverted nares, Cleft palate	ORPHA:2015
Pierpont Syndrome	Wide nose, Broad nasal tip, Short toe, Short nose, Broad palm, Micropenis, Short foot, Broad phil...	OMIM:602342
Clark-Baraitser Syndrome	Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Anteverted nares, Depressed nasal ...	OMIM:617752
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Atelosteogenesis Type Ii	Micromelia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of...	ORPHA:56304
Monosomy 18Q	Abnormal palmar dermatoglyphics, Prominent nose, Secundum atrial septal defect, Downturned corner...	ORPHA:1600
Oligomeganephronia	Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag...	ORPHA:2260
Suleiman-El-Hattab Syndrome	Thin upper lip vermilion, Recurrent respiratory infections, Ventricular septal defect, Single tra...	OMIM:618950
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Stromme Syndrome	Accessory spleen, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Prominent nasa...	OMIM:243605
Igg4-Related Aortitis	Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol...	ORPHA:449400
Frank-Ter Haar Syndrome	Abnormally large globe, Secundum atrial septal defect, High palate, Short palm, Atrial septal def...	OMIM:249420
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Hypospadias, ...	ORPHA:171839
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Ventricular septal defect, Anteverted nares, Wide mo...	OMIM:618506
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss...	ORPHA:3104
Feingold Syndrome	Hallux valgus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Esophageal atresia, Pate...	ORPHA:1305
Even-Plus Syndrome	Epiphyseal dysplasia, Recurrent urinary tract infections, Bifid nasal tip, Depressed nasal ridge,...	OMIM:616854
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place...	OMIM:229850
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop...	OMIM:617895
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wide nasal bridg...	ORPHA:1278
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Coach Syndrome 1	Hepatomegaly, Anteverted nares, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Pos...	OMIM:216360
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Anteverted nares, Single transverse palmar crease, ...	ORPHA:915
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
1Q21.1 Microduplication Syndrome	Hypospadias, Hip dislocation, Hip dysplasia, Gastroesophageal reflux, Talipes equinovarus, Tetral...	ORPHA:250994
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal...	ORPHA:3429
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Tetraamelia Syndrome 2	Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso...	OMIM:618021
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va...	ORPHA:2831
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the hand, Juvenile cataract, Short 5th metaca...	ORPHA:1264
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Tracheomalacia...	OMIM:217980
Orofaciodigital Syndrome Type 2	Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity, Finger clinod...	ORPHA:2751
Distal Deletion 10P	Hypoplasia of penis, Non-midline cleft lip, Abnormality of the elbow, Wide nasal bridge, Cleft pa...	ORPHA:1580
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid...	ORPHA:2750
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Atrial septal defect, Hypospadias, Abnormality of the alv...	OMIM:225500
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Hydrocephalus,...	ORPHA:1865
Diets-Jongmans Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Broad nasal tip, Low hanging co...	OMIM:618846
Scleromyxedema	Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi...	ORPHA:167635
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect	OMIM:617021
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Complete atrioventricula...	OMIM:619142
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Hypoplastic ilia, Patel...	ORPHA:85201
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Interphalangeal joint contracture of finger, Preaxial hand polydactyly,...	OMIM:606242
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Laryngotracheomalacia, Renal cyst, Short philtrum, Microphallus, Cl...	OMIM:618454
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asplenia, Thrombocytopen...	OMIM:185070
Tarp Syndrome	Single transverse palmar crease, Glossoptosis, High palate, Atrial septal defect, Anteverted nare...	OMIM:311900
Bohring-Opitz Syndrome	Gastroesophageal reflux, Atrial septal defect, Vesicoureteral reflux, Dislocated radial head, Syn...	OMIM:605039
Jeune Syndrome	Abnormality of retinal pigmentation, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Post...	ORPHA:474
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron...	OMIM:615482
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia, Broad thumb, Smooth ...	OMIM:614526
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Anteverted nares, Depressed nasal bridge,...	ORPHA:513456
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Abnormal cerebral vascu...	ORPHA:2165
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Atrial septal defect, Anal stenosis, Ureteral duplication, Ureteral hypoplasia, ...	OMIM:614080
Lethal Congenital Contracture Syndrome 11	Elbow flexion contracture, Bilateral talipes equinovarus, Pulmonary hypoplasia, Camptodactyly, Fl...	OMIM:617194
Mohr Syndrome	Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Depressed ...	OMIM:252100
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Hypoglossia With Situs Inversus	Situs inversus totalis, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mouth, Microglossia	OMIM:612776
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Lip pit, Tapered finger, Facial cleft, Hypodontia, Microphthalmia, Broad...	ORPHA:1236
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Renal cyst, Short palm, Depressed nasal bridge, Urethrovaginal f...	ORPHA:93271
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Aplasia of the thymus, Broad nasal tip, Cleft lip, Patent ductus arterios...	OMIM:618223
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Postaxial polydactyly, Unilateral renal ag...	OMIM:614576
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia, Dysphagia	OMIM:616867
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Atrial septal defect, M...	ORPHA:289
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Bifid uvula, Dy...	OMIM:300958
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno...	ORPHA:2973
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Unilateral Ocular Duplication	Encephalocele, Median cleft lip, Polyhydramnios, Midline facial cleft, Cleft palate	ORPHA:3374
Keutel Syndrome	Recurrent respiratory infections, Wide nose, Ventricular septal defect, Depressed nasal bridge, U...	ORPHA:85202
Albinism, Oculocutaneous, Type V	Hypoplasia of the fovea, Albinism	OMIM:615312
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Abnormal lung lobation, Gastroesophageal reflux...	ORPHA:818
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Renal Hypodysplasia/Aplasia 4	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:619887
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Depressed nasal bridge, Abnormality of the humerus, Preaxial hand poly...	ORPHA:3098
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, High, n...	OMIM:122470
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Depressed nasal ridge, Tracheal calcification, Gastroesophageal reflux, At...	ORPHA:79345
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Atrial septal defect,...	OMIM:164200
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Postaxial hand polydactyly, Non-midline cleft lip, Abn...	ORPHA:2075
Renal Hypodysplasia/Aplasia 2	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:615721
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Anteverted nares, Preaxial hand polydactyly, Duplication o...	OMIM:263630
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabs...	ORPHA:379
Non-Distal Duplication 10Q	Depressed nasal bridge, Abnormality of the urinary system, Everted lower lip vermilion, High pala...	ORPHA:1695
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Paten...	OMIM:301043
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Patent ductus arteriosus, Postaxial hand polydacty...	ORPHA:65759
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Patent ductus art...	OMIM:618961
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Anteverted nares, Dextrocardia, Long fingers, High, narrow palate, Hip...	ORPHA:96092
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Tracheoesophageal fistula, Lymphadenopathy, Neoplasm of the lung, Dysph...	ORPHA:142
Matthew-Wood Syndrome	Anophthalmia, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Pu...	ORPHA:2470
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Hypoplasia of penis, Optic nerve hypoplasia, Esophageal atresia, Anosmia, ...	ORPHA:3157
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C...	OMIM:616108
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Anteverted nares, Tracheomala...	ORPHA:1001
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Arachnodactyly, Ventricular septal defect, Proteinuria, Minimal chan...	OMIM:616730
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Hypospadias, Tapered finger, Abnormality of the dentitio...	ORPHA:65286
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Osteopathia striata, High palate, Gastroesophageal reflux, Clinodactyly of the 5...	OMIM:300373
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,...	ORPHA:2924
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic...	ORPHA:1553
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide...	OMIM:601224
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Retinal dys...	OMIM:615665
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Anteverted nares, Depressed nasal bridge, Hydroureter,...	OMIM:615398
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, Small hand, Br...	OMIM:145420
Supernumerary Nostril	Facial cleft	ORPHA:141096
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Sirenomelia	Spina bifida, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasi...	ORPHA:3169
Retinitis Pigmentosa 89	Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatospl...	OMIM:618955
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly	OMIM:614096
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary hypoplasia, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria	OMIM:619003
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota...	OMIM:267010
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Umbilical hernia, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Dextrocardia, Wide nas...	OMIM:618067
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Narrow mouth, Pierre-Robin sequence, Downturned corners of mo...	OMIM:611961
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Broad na...	OMIM:258865
Arterial Tortuosity Syndrome	Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia...	ORPHA:3342
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Bulbous nose, Wide nasal bridge, Cleft palate, Gastroesophageal reflux	OMIM:612913
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Calcaneovalgus deformity, Patent foramen ovale, Finger syndactyly, Spina...	OMIM:256520
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Prominent nose, Atrial septal defect, Bifid uvula, Depressed nasal bridge, Tapered finger, Patent...	OMIM:300968
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Depressed nasal bridge, Camp...	ORPHA:1529
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly...	ORPHA:290
Multiple Pterygium Syndrome, X-Linked	Cleft upper lip, Cleft palate, Pulmonary hypoplasia, Hypoplastic heart, Short finger	OMIM:312150
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Pierpont Syndrome	Thin upper lip vermilion, Short toe, Broad philtrum, Deep palmar crease, Thin vermilion border, W...	ORPHA:487825
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Smith-Magenis Syndrome	Toe syndactyly, Tented upper lip vermilion, Anteverted nares, Delayed eruption of primary teeth, ...	ORPHA:819
Isolated Dandy-Walker Malformation	Encephalocele, Tetralogy of Fallot, Cleft palate	ORPHA:217
Microcephaly-Cardiomyopathy Syndrome	Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Sandal gap	ORPHA:2515
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Broad hallux, Cleft uppe...	OMIM:154400
Atelosteogenesis Type I	Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a...	ORPHA:1190
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Short nose, Convex nasal ridge	OMIM:200130
Dyskeratosis Congenita	Abnormality of neutrophils, Anorectal anomaly, Periodontitis, Hepatomegaly, Anemia, Esophageal st...	ORPHA:1775
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu...	OMIM:617063
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, High, narrow palate, Biliary atresia, Aplasia/Hy...	ORPHA:96149
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Hypoplastic spleen, Slender long bone, Aniridia, Microphthalmia, Mic...	OMIM:602361
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Abnormally large globe, Widely-spaced maxillary central incisors, Parti...	ORPHA:363417
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abno...	ORPHA:537
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Whim Syndrome 2	Tetralogy of Fallot, Chronic neutropenia	OMIM:619407
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le...	OMIM:249710
Digeorge Syndrome	High, narrow palate, Abnormal thymus morphology, High palate, Short philtrum, Gastroesophageal re...	OMIM:188400
Intellectual Developmental Disorder, Autosomal Dominant 21	Single transverse palmar crease, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Th...	OMIM:615502
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Atrial septal defect,...	OMIM:300707
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Underdeveloped nasal alae, Deep philtrum, Depressed nasal ridge, Wide nas...	ORPHA:77300
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Dextrocardia, Coarctation of aorta, Micropenis,...	OMIM:618929
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Renal hypoplasia/aplasia, Long penis, Abnormal fibula morp...	ORPHA:1988
Congenital Myopathy 17	Ureteropelvic junction obstruction, Tented upper lip vermilion, Overlapping toe, Tapered finger, ...	OMIM:618975
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial synostosis, Cleft pala...	OMIM:251230
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou...	OMIM:225060
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Dow...	ORPHA:93267
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Holt-Oram Syndrome	Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen...	ORPHA:392
Cardioacrofacial Dysplasia 2	Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common atrium, Postaxial hand...	OMIM:619143
Blepharocheilodontic Syndrome 1	Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl...	OMIM:119580
Trisomy 8P	Short fourth metatarsal, Single transverse palmar crease, Abnormal atrioventricular connection, F...	ORPHA:264450
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Depressed nasal bridge, Postaxial polydactyly, Accessory oral fre...	OMIM:617088
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Patent ductus arteriosus, Downturn...	OMIM:618652
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Eem Syndrome	Abnormality of retinal pigmentation, Finger syndactyly, Ectrodactyly, Macular dystrophy, Retinopathy	ORPHA:1897
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Iliac crest serration, Anteverted nares, Micromelia, Cardiomegaly, Wide distal femoral...	OMIM:613320
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con...	OMIM:618914
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Absent middle...	OMIM:308050
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Short toe, Limited elbow extension, W...	OMIM:614078
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Atrial septal defect, Exaggerated cupid's bow, Camptodactyly of finger,...	ORPHA:261236
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, T...	OMIM:618829
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:214300
Parietal Foramina 1	Encephalocele, Cleft palate, Cleft upper lip	OMIM:168500
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolysis involving ...	ORPHA:371428
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Prominent nose, Anteriorly placed anus, Promine...	OMIM:305450
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim...	ORPHA:93320
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Renal dysplasia, Pulmonary hypoplasia, Abnormal renal corticomedull...	OMIM:616733
Johnson Neuroectodermal Syndrome	Choanal atresia, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, Cleft palate, H...	ORPHA:2316
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Atrial septal defect, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe s...	ORPHA:485405
Chops Syndrome	Ventricular septal defect, Anteverted nares, High, narrow palate, Patent ductus arteriosus, Splen...	OMIM:616368
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Arteriosclerosis, Cirrhosis	ORPHA:75234
Odontochondrodysplasia	Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa valga, Patent ductus arteriosu...	ORPHA:166272
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypospadias, Renal dysplasia, Postaxial polydactyly	OMIM:615985
Solitary Median Maxillary Central Incisor	Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus...	OMIM:147250
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,...	OMIM:618460
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Prominent nose, Delayed epiphyseal ossification, Pre...	OMIM:210710
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Gastroesophageal reflux, Finger syndacty...	ORPHA:2092
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Fetal Alcohol Syndrome	Thin upper lip vermilion, Atrial septal defect, Anteverted nares, Non-midline cleft lip, Cleft pa...	ORPHA:1915
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, High pa...	ORPHA:139471
Senior-Loken Syndrome	Cone-shaped epiphysis, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy	ORPHA:3156
Opitz Gbbb Syndrome	Thin upper lip vermilion, Abnormal nasopharynx morphology, Ventricular septal defect, Anteverted ...	OMIM:300000
Lowry-Maclean Syndrome	Hypospadias, Single transverse palmar crease, Delayed eruption of primary teeth, Choanal atresia,...	ORPHA:2409
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Tibial bowing, Femoral bowing, Smooth tongue, Short tibia, Short...	OMIM:601559
Larsen Syndrome	Short metatarsal, Atrial septal defect, Short metacarpal, Bronchomalacia, Depressed nasal bridge,...	OMIM:150250
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Hypospad...	OMIM:619736
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Anteverted nares, Aplasia/hypoplasia invol...	ORPHA:40366
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Coarctation of aorta	OMIM:140850
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Ventricular...	OMIM:617201
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Hammertoe	OMIM:619090
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair	OMIM:113750
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve...	OMIM:619472
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, Buphthalmos, ...	OMIM:618005
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Pelger-Huet Anomaly	Ventricular septal defect, Depressed nasal bridge, Abnormality of neutrophils, Abnormality of the...	OMIM:169400
Tetraploidy	Renal hypoplasia/aplasia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the lungs, Short ...	ORPHA:3305
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary ...	ORPHA:2184
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
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Arachnodactyly, Dental crowding, Narrow mouth, Mitral valve prolapse, Long philtrum, Bilateral ta...	OMIM:615539
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominent nose, Patent ductus arteriosus, Wide nasal bridge, Renal tubular dysfunction, Atrial se...	OMIM:614886
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Hypospadi...	OMIM:164745
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Slender finger, ...	OMIM:613192
Galloway-Mowat Syndrome 7	Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Single transverse palmar crease, Vent...	OMIM:618348
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Anteverted nares, Aplasia/Hypoplasia of the tongue, Tracheal st...	ORPHA:1790
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Anteverted nares, Choanal a...	ORPHA:280200
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Distal Monosomy 7Q36	Hypoplasia of penis, Non-midline cleft lip, Cleft palate, Symphalangism affecting the phalanges o...	ORPHA:1636
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormality of the den...	ORPHA:2315
Distal Deletion 10Q	Single transverse palmar crease, Prominent nose, 2-3 toe cutaneous syndactyly, Functional abnorma...	ORPHA:96148
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Optic atrophy, Microphtha...	ORPHA:1466
Aland Island Eye Disease	Hypoplasia of the fovea, Astigmatism, Albinism	OMIM:300600
Trisomy 4P	Smooth philtrum, Depressed nasal bridge, Camptodactyly of finger, Hypospadias, Abnormality of the...	ORPHA:1738
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Hypertrophy of the urinary bladder, High palate, Gastroesophageal ref...	ORPHA:280633
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Abnormal heart morphology	DECIPHER:52
Peutz-Jeghers Syndrome	Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Stom...	ORPHA:2869
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Prominent nasal bridge, Cleft palate	ORPHA:85273
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Abnormality of the hand, Bulbous n...	ORPHA:369891
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Thin upper lip vermilion, Atrial septal defect, Contracture of the proximal interphalangeal joint...	OMIM:300998
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, High palate, Cleft palate, Cleft upper lip	OMIM:609654
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Cleft palate, Cleft upper lip	ORPHA:398189
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ...	OMIM:601612
Simpson-Golabi-Behmel Syndrome, Type 1	Abnormal lung lobation, Renal cyst, Narrow greater sciatic notch, Short palm, Atrial septal defec...	OMIM:312870
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul...	OMIM:108900
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Ventricular s...	OMIM:620210
Acrocephalopolydactyly	Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly	ORPHA:221054
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Down-sloping shoulders, Abnormal retinal vascular morphology...	ORPHA:1390
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Recurrent respiratory infections, Hepatomegaly, Tented upper lip vermilion, ...	OMIM:619383
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Renal insufficiency, Toe syndactyly, Renal agenesis, Mitral atresia, Ec...	ORPHA:140952
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate...	OMIM:258860
Renal Agenesis	Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Renal age...	ORPHA:411709
Oculodentodigital Dysplasia	Clinodactyly of the 5th finger, Broad columella, Finger syndactyly, Anteverted nares, Abnormal de...	ORPHA:2710
Gaucher Disease, Type Ii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Bronchi...	OMIM:230900
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy...	OMIM:601346
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Narrow mouth, Patent ductus arteriosus, Cardiomyopathy, High palat...	OMIM:616866
Maxillonasal Dysplasia	Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Depres...	ORPHA:1248
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Prominent nasal bridge, Abnormality of the dentition, Carious teeth...	ORPHA:3270
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect...	ORPHA:46627
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Rod-cone dystrophy, Macular hypopigmentation, Polydactyly	OMIM:617119
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Ciliary Dyskinesia, Primary, 7	Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis	OMIM:611884
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition, Bicuspid aortic valve,...	OMIM:618529
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor...	ORPHA:2357
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Choanal atresia, Secundu...	OMIM:612562
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Thin upper lip vermilion, Dental crowding, Single transverse palmar crease, Hy...	ORPHA:435938
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, High, narrow palate, Short philtrum,...	ORPHA:464738
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Abnormality of the tongue, Orofa...	ORPHA:2990
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningocele, Hydro...	ORPHA:1914
Systemic Sclerosis	Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux, Abnormal small intes...	ORPHA:90291
17P13.3 Microduplication Syndrome	Wide nose, Congenital hip dislocation, Hypoplasia of penis, High palate, Narrow mouth, Clinodacty...	ORPHA:217385
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,...	OMIM:607361
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cleft palate,...	OMIM:181180
Thrombocytopenia-Absent Radius Syndrome	Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger s...	ORPHA:3320
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias	OMIM:615542
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormal iliac wing mo...	ORPHA:3027
Trisomy 18	Holoprosencephaly, Atrial septal defect, Bilateral single transverse palmar creases, Abnormality ...	ORPHA:3380
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Chime Syndrome	Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, De...	ORPHA:3474
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Cleft lip, Cleft palate, Abdominal situs inversus, Pulmonic ...	OMIM:619123
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Single transverse palmar c...	OMIM:305400
Cutis Laxa, Autosomal Recessive, Type Ic	Sandal gap, Single transverse palmar crease, Bronchomalacia, Vascular dilatation, Pyloric stenosi...	OMIM:613177
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Bulbous nose, Pierre...	OMIM:613604
Cerebrooculonasal Syndrome	Anophthalmia, Anteverted nares, Optic nerve hypoplasia, Postaxial polydactyly, Proboscis, Promine...	OMIM:605627
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Cleft upper lip, Patent ductus a...	ORPHA:33001
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Metaphyseal widening, High palate, Microdontia, Renal neoplasm, Arachnodactyly, Repeated pneumoth...	ORPHA:536467
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Wide nose, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge...	ORPHA:1252
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Dextrocardia, Camptodactyly of finger, Duodenal stenosis, A...	ORPHA:1759
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig...	OMIM:117650
Moebius Syndrome	Syndactyly, Brachydactyly, Abnormality of the dentition, Microphthalmia, Split hand, Dysphagia, M...	OMIM:157900
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis	ORPHA:1259
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, High palate, Narrow mouth	ORPHA:2528
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Single transverse palmar crease, Abnormality of the kidney, Broad nasal tip, Recurrent upper resp...	ORPHA:391372
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Renal agenesis, Cleft uppe...	OMIM:164210
German Syndrome	Depressed nasal bridge, Camptodactyly of finger, Wide nasal bridge, Orofacial cleft, Abnormal car...	ORPHA:2077
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Dental crowding, Abnormal lung lobation, Orofacial cleft, Uret...	ORPHA:2052
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Non-midline cleft lip, Myelomeningocele, Orofacial ...	ORPHA:1752
Kagami-Ogata Syndrome	Atrial septal defect, Ventricular septal defect, Coxa valga, Long fingers, Patent ductus arterios...	OMIM:608149
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	3-Methylglutaconic aciduria, Pulmonary hypoplasia	OMIM:615228
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Hip dysplasia, Microphthalmia, Hydrone...	ORPHA:195
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Oligodontia, Prominent palatine ridges, Cau...	OMIM:272950
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, Postaxial polydactyly, Brachydactyly	OMIM:600151
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,...	OMIM:141400
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs...	OMIM:616037
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Unilateral renal agenesis, Broad nasal tip, 2-3 toe syndactyly, High p...	ORPHA:3306
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Nephrocalcinosis...	ORPHA:79500
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Abnormality of the elb...	ORPHA:2701
Diaphanospondylodysostosis	Narrow pelvis bone, Myelomeningocele, Multiple renal cysts, Cleft palate	ORPHA:66637
Ogden Syndrome	Everted upper lip vermilion, Broad hallux, Ventricular septal defect, Underdeveloped nasal alae, ...	ORPHA:276432
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Abnormality of the upper urinary tract, Abnormality of the urethra...	ORPHA:2145
Robinow Syndrome	Dental crowding, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Webbed penis, Mi...	ORPHA:97360
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Bilateral talipes equinovarus, Pulmonary hypoplasia	OMIM:618174
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy, Polydactyly, Abnormality of the hand	OMIM:245800
Diamond-Blackfan Anemia 1	Depressed nasal ridge, Reticulocytopenia, High palate, Triphalangeal thumb, Neutropenia, Atrial s...	OMIM:105650
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Brachydactyly	OMIM:618618
Acrofrontofacionasal Dysostosis	Hypospadias, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Cleft p...	ORPHA:1784
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Cleft palate, Horseshoe kidney, Narrow pelvis bone, Hammer...	OMIM:608022
Aspergillosis	Pneumonia, Abnormality of the kidney, Eosinophilia, Hypersensitivity pneumonitis, Bronchiectasis,...	ORPHA:1163
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, ...	ORPHA:397
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Squared iliac bones, Flared metaphysis, Advanced ossification...	OMIM:215045
H Syndrome	Hallux valgus, Abnormality of the kidney, Cleft upper lip, Malabsorption, Recurrent pharyngitis, ...	ORPHA:168569
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Anteverted nares, D...	OMIM:615761
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Choanal atresia, Preaxi...	OMIM:610536
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota...	ORPHA:99125
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum	ORPHA:46
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Anteverted nares, Nephroblastoma, High, narrow palate, Short n...	ORPHA:2849
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su...	OMIM:618164
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Broad nasal tip, Preaxial hand polydactyly, Deep ph...	ORPHA:1297
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r...	OMIM:614679
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastroint...	OMIM:270400
Åland Islands Eye Disease	Hypoplasia of the fovea, Astigmatism, Hypopigmentation of the fundus	ORPHA:178333
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Arachnodactyly, Decreased palmar creases, Limit...	OMIM:108145
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Anteverted nares, Narrow mouth, Short nose, Delayed eruption of permanent t...	OMIM:619356
Hydrolethalus Syndrome 1	Median cleft lip, Ventricular septal defect, Hypospadias, Preaxial hand polydactyly, Postaxial ha...	OMIM:236680
Chung-Jansen Syndrome	Anteverted nares, Tapered finger, Hip dysplasia, Thin vermilion border, High palate, Short philtr...	OMIM:617991
Fetal Encasement Syndrome	Bilateral trilobed lung, Upper limb undergrowth, Horseshoe kidney, Increased urinary 8-oxo-7,8-di...	OMIM:613630
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Overlapping toe, Cleft lip, Deep philtrum, Bulbous nose, Wide nasal bridge, Cleft palate, Abnorma...	OMIM:618571
3Mc Syndrome 1	Atrial septal defect, Dental crowding, Single interphalangeal crease of fifth finger, Ventricular...	OMIM:257920
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Intestinal malrotation, Pulmonary hypoplasia, Clinodactyly of the 5th...	OMIM:601163
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose vein...	OMIM:153400
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho...	ORPHA:971
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cleft palate, Ulnar deviation of fin...	ORPHA:921
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia	ORPHA:66630
Linear Verrucous Nevus Syndrome	Short metacarpal, Cataract, Toe syndactyly, Abnormal cornea morphology, Retinopathy, Iris colobom...	ORPHA:2611
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Hypospadias, Polydactyly, Short nose, Hypoplastic ischia	OMIM:616910
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Abnormality of the dentition, Pro...	ORPHA:363528
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Broad hallux, Single transver...	OMIM:614105
Bresek Syndrome	Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydact...	ORPHA:85284
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Wide nasal bridge, Epiphyseal stippling, Polycystic kidney dysplasia, Vascular dila...	OMIM:614859
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Micropenis, Tooth agenesis, Ectrodactyly...	OMIM:147950
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Narrow nasal bridge, Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Ab...	ORPHA:2511
Nephronophthisis 15	Polydactyly, Retinal degeneration	OMIM:614845
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Wide nose, Ventricular septal def...	OMIM:617506
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip,...	OMIM:100300
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r...	OMIM:613451
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Short nose, Spina bifida occulta	ORPHA:1514
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea	OMIM:251750
Loeys-Dietz Syndrome 1	Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Eosinophilic infiltration of the eso...	OMIM:609192
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, V...	ORPHA:90308
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, High, narrow palate, Aminoaciduria, High palate, Ulnar deviation...	OMIM:214100
Orofaciodigital Syndrome Xiv	Natal tooth, Broad hallux, Ventricular septal defect, Hamartoma of tongue, Cleft lip, Postaxial h...	OMIM:615948
Jacobsen Syndrome	Long hallux, Broad columella, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, M...	ORPHA:2308
Desmosterolosis	Depressed nasal bridge, Intestinal malrotation, Micromelia, Abnormality of the nose, Metatarsus a...	ORPHA:35107
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Depressed nasal bridge, Pericardial effusion, Hip dislocation, Hepatosplenomegaly, ...	OMIM:608776
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Anteriorly placed anus, High palate,...	ORPHA:1225
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Foot p...	ORPHA:210548
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Carotid artery dissection, Arachnodactyly, Convex nasal ridge, Hiatus he...	OMIM:208050
Marden-Walker Syndrome	Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Arachnodactyly,...	ORPHA:2461
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, High palate, Ascending aortic di...	OMIM:616166
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl...	ORPHA:94066
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger...	ORPHA:959
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Anteverted nares, Depressed nasal bridge, Coxa valga, Abnormality of the elbow, Flattened epiphys...	ORPHA:163649
Achondrogenesis Type 2	Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Pierre-Robin sequ...	ORPHA:93296
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g...	OMIM:253800
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist...	ORPHA:1234
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Prominent nose, Cleft lip, Bulbous nose, Wide n...	OMIM:301022
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, High, narrow palate, Abnormal lung lobation, Renal cyst, Downturned c...	ORPHA:369837
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Macular degeneration, Polydactyly, Rod-cone dystrophy, A...	OMIM:613464
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Renal hypoplasia/aplasia...	ORPHA:2166
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Broad nasal tip, Secundum atrial septal defect, Bifid nasal tip...	OMIM:619758
Enlarged Parietal Foramina	Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Abnormal cer...	ORPHA:60015
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metata...	OMIM:305600
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Cleft palate, Finger joint hypermobility, Micropenis	OMIM:244200
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth, Short nose, ...	ORPHA:1832
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Upper limb undergrowth	OMIM:613124
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricular septal defect, Dep...	OMIM:614114
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Hypospadi...	OMIM:616449
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Distal Duplication 18Q	Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Antever...	ORPHA:1716
Peters Plus Syndrome	Ureteral duplication, Micromelia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, W...	ORPHA:709
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Microcephaly-Capillary Malformation Syndrome	Wide nose, Ventricular septal defect, Vesicoureteral reflux, Cleft palate, Right ventricular hype...	OMIM:614261
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Alg9-Cdg	Villous atrophy, Abnormal lung lobation, Right ventricular dilatation, Narrow greater sciatic not...	ORPHA:79328
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Lymphedema, Triangular mouth, Flattened ep...	OMIM:607131
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,...	ORPHA:2328
Hamamy Syndrome	Microcytic anemia, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Long toe, S...	OMIM:611174
De Barsy Syndrome	Delayed eruption of teeth, Recurrent sinopulmonary infections, Congenital hip dislocation, Ventri...	ORPHA:2962
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Atria...	ORPHA:373
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Meta...	ORPHA:899
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Recurrent pneumonia, Gastroesophageal reflux, Narrow mouth, Short nose, ...	ORPHA:1495
Non-Distal Duplication 13Q	Arachnodactyly, Abnormality of the dentition, Postaxial hand polydactyly, Thin vermilion border, ...	ORPHA:1702
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Hematemesi...	OMIM:263200
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Al-Raqad Syndrome	Thin upper lip vermilion, Sandal gap, Narrow mouth, Atrial septal defect, Short nose, Brachydactyly	OMIM:616459
Septooptic Dysplasia	Polydactyly, Optic disc hypoplasia, Optic nerve hypoplasia, Short finger	OMIM:182230
Lambotte Syndrome	Preaxial foot polydactyly, Ventricular septal defect, Convex nasal ridge, Semilobar holoprosencep...	OMIM:245552
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Absent t...	ORPHA:96097
Von Willebrand Disease	Deviation of finger, Venous insufficiency, Abnormal mitral valve morphology	ORPHA:903
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:397951
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Noonan Syndrome 7	Depressed nasal bridge, Deep palmar crease, Thick vermilion border, Impaired oropharyngeal swallo...	OMIM:613706
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Timothy Syndrome	Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Depress...	OMIM:601005
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Stickler Syndrome Type 1	Cleft palate, Mitral valve prolapse, Abnormal epiphysis morphology, Long philtrum, Abnormal verte...	ORPHA:90653
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Spondylodysplastic Ehlers-Danlos Syndrome	Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Atrial septal ...	ORPHA:536471
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Cleft palate, Split foot	OMIM:183700
Multiple Pterygium Syndrome, Lethal Type	Cleft palate, Pulmonary hypoplasia, Hypoplastic heart, Short finger	OMIM:253290
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Multicystic kidney dysplasia, Hydrocephalus, Abnormal lung lobation, Orofa...	ORPHA:3301
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t...	ORPHA:3103
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Cleft palate, Thick vermilion border, Pulmonary hypoplasia, Talipes ...	ORPHA:250999
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Depressed nasal br...	OMIM:267000
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Single transverse palmar crease, Renal hypoplasia, High palate, Microphthalmia, Hypert...	OMIM:619053
Cranioectodermal Dysplasia 2	Cholangitis, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Mic...	OMIM:613610
Coffin-Siris Syndrome	Clinodactyly, Aspiration pneumonia, Hepatoblastoma, Atrial septal defect, Thick nasal alae, Antev...	ORPHA:1465
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Tapered finge...	OMIM:619721
Noonan Syndrome 12	Ventricular septal defect, Proximal placement of thumb, Tetralogy of Fallot, Anteriorly placed an...	OMIM:618624
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Metaphyseal cupping, Hydrocephalus, Depressed nasal ridge, Metaphyseal cupping of pro...	OMIM:300863
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ...	ORPHA:2557
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Depressed nasal brid...	OMIM:613443
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Sandal gap, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter...	ORPHA:1046
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Ventricular septal defect, Underdeveloped nasal alae, Metaphysea...	ORPHA:166035
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Patent ductus art...	ORPHA:1112
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Rocker bottom foot,...	OMIM:618622
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Postaxial hand polydactyly, Agenesis of in...	OMIM:610829
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro...	ORPHA:2753
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Kleefstra Syndrome 1	Natal tooth, Recurrent respiratory infections, Anteverted nares, Single transverse palmar crease,...	OMIM:610253
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Wide nose, Overlapping toe, Anteverted nares, Unilateral...	OMIM:213980
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
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo...	OMIM:617102
Wolcott-Rallison Syndrome	Metaphyseal dysplasia, Renal insufficiency, Hepatomegaly, Jaundice, Chronic kidney disease, Iron ...	ORPHA:1667
Congenital Myopathy 12	Arachnodactyly, High, narrow palate, Pulmonary artery stenosis, High palate, Camptodactyly, Overl...	OMIM:612540
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Seckel Syndrome 2	Hypospadias, Microdontia, Ectopic kidney, Clinodactyly of the 5th finger, Microphthalmia, Microgl...	OMIM:606744
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cleft palate, Abnormal hea...	ORPHA:217017
Miller-Dieker Syndrome	Clinodactyly of the 5th finger, Nephropathy, Short nose, Anteverted nares	ORPHA:531
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Cardiac Valvular Dysplasia 1	Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s...	OMIM:212093
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Sandestig-Stefanova Syndrome	Rocker bottom foot, Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricul...	OMIM:618804
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Prader-Willi Syndrome Due To Translocation	Prominent nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Patent ...	ORPHA:177907
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Secundum atrial septal defect, Oral ulcer, Leukopenia, High pala...	OMIM:612541
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft upper lip, Palmar...	OMIM:109400
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly	OMIM:619981
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morpho...	ORPHA:261197
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Tubular lum...	OMIM:219730
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Atrial septal defect, Microdontia, Bifid...	OMIM:613458
Tetrasomy 9P	Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5t...	ORPHA:3310
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Recurrent respiratory infections, Proteinuria, Pancr...	OMIM:208500
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Nasal polyposis, Dextrocardia, Situs inversus totalis, Bronchie...	OMIM:615444
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Anteverted nares, Protruding tongue, Conotruncal defect...	ORPHA:96147
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Arachnodactyly, Hypospadias, Abnormality of the dentition, Apla...	ORPHA:1548
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge...	OMIM:274000
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Deep philtrum, Recurrent pn...	ORPHA:314655
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney...	OMIM:173900
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Martsolf Syndrome 1	Osteopathia striata, High palate, Short philtrum, Finger joint hypermobility, Short palm, Micrope...	OMIM:212720
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,...	OMIM:613686
Trisomy 12P	Wide nasal bridge, Cleft palate, Downturned corners of mouth, Aplasia/Hypoplasia of the iris, Lar...	ORPHA:1699
Microphthalmia, Syndromic 5	Anophthalmia, Optic nerve hypoplasia, Cleft palate, Microphthalmia, Micropenis	OMIM:610125
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Rhinitis, Bronchiectasis, Dextrocardia	OMIM:618063
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Abnormal tongue morphology, Gastrointestinal dysmotility, Abnormal heart morpho...	ORPHA:531151
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93260
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Downturned corners of mouth, Short philtrum, Atrial septal defect, Arach...	ORPHA:280
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Atrial septal defect, Wide nose, Multicystic kidney dysplasia, Abnormal lun...	ORPHA:1052
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Convex nasal ridge, Tibial bowing, High palate, Short philtrum, Microdontia, Cli...	ORPHA:251028
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Cleft palate	OMIM:601076
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Renal cyst, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Clinodactyly of the 5th ...	OMIM:616975
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Proteinuria, Abnormal palmar dermatoglyphics, Cleft palate, Hypoplasia of t...	ORPHA:2728
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Abnormality of the kidney, Protruding tongue, Respiratory ...	ORPHA:93400
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Prominent nasal brid...	ORPHA:457193
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Ventricular septal defect, Abnormality of the dentition, Deep philtru...	ORPHA:251038
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Camptodactyly of finger, High, narrow palate, Ulnar deviation of finger, Talipes eq...	ORPHA:1101
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Hip dysplasia	OMIM:618379
Vici Syndrome	Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, Neutropenia, Atrial septa...	OMIM:242840
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Antevert...	ORPHA:1327
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Campomelia, Cumming Type	Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Pancreatic cysts, Clubbing of...	ORPHA:1318
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Deep philtrum, Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Wide mouth, Talipes eq...	OMIM:617260
Acalvaria	Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Abnormal lung lobation, Cleft palate, Ho...	ORPHA:945
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym...	ORPHA:84064
Meckel Syndrome, Type 9	Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Bilateral single transverse ...	ORPHA:3253
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Split hand, Hypopla...	OMIM:200980
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial...	ORPHA:476126
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Congenital Toxoplasmosis	Microphthalmia, Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:858
Toriello-Carey Syndrome	Aganglionic megacolon, Patent ductus arteriosus, Short nose, Cleft palate, Coarctation of aorta, ...	ORPHA:3338
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Microphthalmia, Hydrocephalus, Cardiomyopathy	OMIM:613155
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Prominent nasal bridge, Broad nasal ti...	OMIM:613544
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger...	OMIM:300558
2Q31.1 Microdeletion Syndrome	Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, Clinodactyly o...	ORPHA:251014
Proteus Syndrome	Depressed nasal bridge, Splenomegaly, Lymphangioma, Open mouth, Venous malformation	OMIM:176920
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Brachydactyly, Epiphyseal dysplasia, Elbow dislocation, Coxa...	ORPHA:1824
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum	ORPHA:438178
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-cone dystrophy	OMIM:616562
Degcags Syndrome	Oral-pharyngeal dysphagia, Prominent nose, Bilateral renal hypoplasia, Leukopenia, Iron deficienc...	OMIM:619488
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ...	ORPHA:229
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact...	OMIM:601707
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Single transverse palmar c...	OMIM:247200
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Ventricular septal defect, Depressed nasal bridge, Hypospadia...	OMIM:619103
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Depressed nasal bridge, Hypospadias, Anteverted nares, Short metatarsal, Advanc...	OMIM:614613
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Dislocated radial head, Syndactyly...	ORPHA:2839
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Long fingers, Ulnar deviation of finger, Downturned corners of...	ORPHA:1895
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist...	OMIM:302950
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Atrial septal defect, Congenital hip dislocation, Long palm, Single tra...	OMIM:244450
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Temtamy Syndrome	Dental crowding, Hip dislocation, Aortic aneurysm, Hypoplasia of teeth, Short 2nd toe, Talipes eq...	OMIM:218340
Alagille Syndrome	Hypoplasia of the ulna, Atrial septal defect, Hepatomegaly, Ventricular septal defect, Renal hypo...	ORPHA:52
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis	OMIM:185500
Ciliary Dyskinesia, Primary, 2	Recurrent respiratory infections, Nasal polyposis, Dextrocardia, Situs inversus totalis, Bronchie...	OMIM:606763
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Abnormal nasal morphology, Non-midlin...	ORPHA:245
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Abnormality of t...	OMIM:263750
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal lung morphology, Abnormal femur morphology, Pericardial effusion, H...	ORPHA:464329
Naxos Disease	Cardiomyopathy, Palmoplantar keratoderma, Cleft upper lip	ORPHA:34217
Autosomal Dominant Omodysplasia	Short humerus, Hypoplasia of penis, Depressed nasal bridge, Rhizomelia, Elbow dislocation, Short ...	ORPHA:93328
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Hydranencephaly, Ventricular septal defect, Tracheomalacia, Spina b...	ORPHA:1393
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Intestinal malrotation, Aqueductal stenosis, Abnormal fi...	ORPHA:3035
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias...	OMIM:206900
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo...	OMIM:610759
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Recurrent respiratory infections, Short femur, Hypospadias, Hepatic steatosis, Abn...	ORPHA:17
Joubert Syndrome 7	Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,...	OMIM:611560
Pfeiffer Syndrome	Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal...	OMIM:101600
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Vesicou...	OMIM:617159
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal erosion, Macular dege...	ORPHA:816
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli...	ORPHA:199302
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm...	ORPHA:363705
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of the kidney, Micromelia, Patent ductus arteriosus, Hydrocephalus, Ap...	ORPHA:93274
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Sandal gap, Tapered finger, Renal hypoplasia/aplasia, Thin vermilion borde...	ORPHA:1438
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, Bicuspid aortic valve, High, narr...	OMIM:309800
Joubert Syndrome 10	Deep philtrum, Thick vermilion border, Wide nasal bridge, Postaxial polydactyly	OMIM:300804
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Tracheal atresia	ORPHA:3346
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Ulnar deviation of the wrist, Hydrocephalus, Wide nasal bridge, Clinodactyly, S...	OMIM:618577
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Wrist swelling, Retinal pigment epithelial mottling, Chor...	ORPHA:448237
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Depressed nasal bridge, Thrombocytopenia, ...	OMIM:606003
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Foot oligodactyly, Short philtrum, Synostosis of carpal bones, H...	ORPHA:3258
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Encephalocele, Hypospadias, E...	ORPHA:2211
Tetraamelia Syndrome 1	Renal agenesis, Cleft upper lip, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate...	OMIM:273395
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val...	ORPHA:3405
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot, Abnormality of the philtrum, Hypospadias, Abnormality of the dentition	ORPHA:276422
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93259
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Optic atrophy, Coloboma	OMIM:274270
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Oligodontia, Micropenis, Anteverted nares, Cleft soft palate, Depressed nasal br...	OMIM:616331
Peroxisome Biogenesis Disorder 6A (Zellweger)	Epiphyseal stippling, Wide nasal bridge, Renal cyst, Hepatomegaly	OMIM:614870
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Holoprosencephaly 1	Median cleft lip and palate, Proboscis, Facial cleft, Aplasia of the nose, Microphthalmia, Microp...	OMIM:236100
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Recurrent pharyngitis, V...	ORPHA:2331
Musculocontractural Ehlers-Danlos Syndrome	Thin upper lip vermilion, Abnormal heart valve morphology, Decreased palmar creases, Tapered fing...	ORPHA:2953
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Cardiospondylocarpofacial Syndrome	Pseudoepiphyses, Gastroesophageal reflux, Atrial septal defect, Vesicoureteral reflux, Patent for...	OMIM:157800
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Protrudin...	ORPHA:50945
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Portal vein thrombosis, Hypersplenism, Splenomegaly, Esophageal varix,...	OMIM:616028
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Proboscis, Choanal atresia, Unil...	ORPHA:141099
Raine Syndrome	Natal tooth, Bowing of the long bones, Hydroureter, Micromelia, Protruding tongue, Hydrocephalus,...	OMIM:259775
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Atrial septal defect, Ventricular septal defect, Prominent nasal bridge, Ectop...	ORPHA:1519
Tetrasomy 5P	Recurrent respiratory infections, Overlapping toe, Short hallux, Long fingers, Hydrocephalus, Hig...	ORPHA:3309
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomel...	ORPHA:93329
Ctcf-Related Neurodevelopmental Disorder	Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger, Gastroesoph...	ORPHA:363611
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Anteverted nares, De...	ORPHA:950
Hajdu-Cheney Syndrome	Wide nose, Ventricular septal defect, Intestinal malrotation, Anteverted nares, Hypospadias, Pate...	OMIM:102500
Marfan Syndrome	Mitral valve calcification, Dental crowding, Arachnodactyly, Protrusio acetabuli, Limited elbow m...	ORPHA:558
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Optic nerve hypoplasia, Anteverted nares, Depressed nasal bridge, Subm...	OMIM:222765
Down Syndrome	Depressed nasal ridge, Downturned corners of mouth, Clinodactyly of the 5th finger, Microdontia, ...	ORPHA:870
Baker-Gordon Syndrome	Thin upper lip vermilion, Gastroesophageal reflux, Prominent nasal tip, Short nose, Smooth philtrum	OMIM:618218
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs invers...	OMIM:613095
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p...	OMIM:615716
Rapp-Hodgkin Syndrome	Syndactyly, Depressed nasal bridge, Hypospadias, Conical tooth, Cleft upper lip, Carious teeth, 2...	OMIM:129400
Zimmermann-Laband Syndrome 1	Hyperextensibility of the finger joints, Downturned corners of mouth, High palate, Short philtrum...	OMIM:135500
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy, Postaxial polydactyly, Syndactyly	OMIM:605231
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c...	OMIM:619503
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Cardiomegaly, High palate, Macrovesicular hepatic steatosis, Antenatal intr...	OMIM:608836
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M...	OMIM:300855
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova...	ORPHA:2255
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Hypoplasia of deltoi...	OMIM:173800
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Dextrocardia, Anteverted nares, Prominent nasal bridge, Cleft palate, Orof...	ORPHA:220493
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Peho-Like Syndrome	Open mouth, Short nose, Tapered finger	OMIM:617507
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Atrial septal defect	ORPHA:93946
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Anteverted nares, Protruding tongue, Patent ductus arteriosus, Alveola...	OMIM:612938
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Abnormal coronary ar...	ORPHA:488618
Nicolaides-Baraitser Syndrome	Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P...	OMIM:601358
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Abnorm...	ORPHA:3121
Alagille Syndrome 1	Long nose, Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Hyp...	OMIM:118450
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, High palate, Pulmonary hypoplasia	OMIM:255320
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Total Anomalous Pulmonary Venous Return 1	Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return	OMIM:106700
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Multicystic kidney dysplasia, Anteverted nares, Depressed nasal bridge, Hypospadias, N...	OMIM:257300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, H...	ORPHA:163966
Fanconi Anemia, Complementation Group F	Pneumonia, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-3 fin...	OMIM:603467
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Hydrocephalus, Cleft palate, Aplasia/Hypoplasia of the lungs...	ORPHA:2635
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Enuresis, Short nose, Broad nasal tip	OMIM:613670
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Anemia, Focal segmental glomerulosclerosis, Neutropenia, Neph...	OMIM:617056
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Femoral retroversion, Cleft upper lip, Cleft palate, Pseudobulbar paralysis...	OMIM:607371
Fontaine Progeroid Syndrome	Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Oligodontia, Gastroesophageal...	OMIM:612289
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Bulbous nose, Den...	OMIM:606232
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Long nose, T lymphocytopenia, Narrow greater sciatic notch, Short phalanx...	ORPHA:508533
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, R...	OMIM:228520
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormal heart...	OMIM:184705
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ...	OMIM:610758
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Inguinal hernia, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Small pla...	ORPHA:397590
Alkuraya-Kucinskas Syndrome	Overlapping toe, Anteverted nares, Depressed nasal bridge, Pericardial effusion, Cutaneous syndac...	OMIM:617822
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Gastroesophage...	OMIM:301044
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thumb, Patent foramen oval...	OMIM:609053
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Ana...	OMIM:619318
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Optic atrophy, ...	OMIM:609033
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Schinzel-Giedion Syndrome	Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly placed anus, Short philtrum, Hi...	ORPHA:798
Neurocardiofaciodigital Syndrome	Syndactyly, Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ventricle, Thin ve...	OMIM:619869
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Prominent nose, Fused teeth, High palate, Gastr...	ORPHA:93932
Desmosterolosis	Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Patent ductus arteriosus, Alveolar ridge ...	OMIM:602398
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Hepa...	OMIM:602579
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Gastroesophageal reflux, Clinodactyly of t...	OMIM:616580
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Bronchomalacia, Thoracic aortic aneurysm, Ileal atresia, Patent ductus arteriosus, Megacy...	OMIM:619351
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Short nose, Downturned corn...	OMIM:614744
Holoprosencephaly 14	Median cleft lip, Ventricular septal defect, Anteverted nares, Proboscis, Cleft lip, Aortic valve...	OMIM:619895
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Panc...	OMIM:235255
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, High pa...	OMIM:608670
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Short toe, Cataract, Brachydactyly	ORPHA:3085
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega...	ORPHA:699
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Coxa valga, Holoprosencephaly, Clinodactyly of the 5th finge...	ORPHA:2163
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Widely-spaced maxillary central incisors, Gastroesophageal reflux, Micropenis, Anteverted nares, ...	OMIM:301040
Glomuvenous Malformation	Abnormality of the nasal cavity, Oral mucosa nodule, Abnormal renal morphology, Abnormal tracheal...	ORPHA:83454
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon...	ORPHA:140976
Multiple Pterygium Syndrome, Escobar Variant	Downturned corners of mouth, High palate, Camptodactyly of toe, Dislocated radial head, Syndactyl...	OMIM:265000
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard p...	ORPHA:2250
Loeys-Dietz Syndrome 4	Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Arterial tortuos...	OMIM:614816
Meester-Loeys Syndrome	Aortic dissection, Arachnodactyly, Gingival overgrowth, Mitral valve prolapse, Ascending tubular ...	OMIM:300989
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Trigonocephaly 1	High, narrow palate, Long penis, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum	OMIM:190440
Transaldolase Deficiency	Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarc...	ORPHA:101028
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Hypospadias, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 fin...	OMIM:615877
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal...	ORPHA:1389
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Micromelia, Short long bone, Talipes equinovar...	OMIM:224410
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Preaxial hand polydactyly, Cleft palate, Atrial septal defect, Short nose	ORPHA:79113
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypoplasia of penis, Brachydactyly, Anosmia, Genu valgum, Abnormal metacarpal morphology, Abnorma...	ORPHA:1295
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low...	OMIM:619854
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:1484
Okamoto Syndrome	Tented upper lip vermilion, Urinary incontinence, Abnormally large globe, Primum atrial septal de...	ORPHA:2729
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Crowded maxillary incisors, Abnormal lung lobation, Abnormal femur morphology, Upper limb asymmet...	ORPHA:2063
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of...	ORPHA:1606
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short metatarsal, Finger clinod...	OMIM:617137
Fibrochondrogenesis 2	Anteverted nares, Hypoplastic ischia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic b...	OMIM:614524
Kabuki Syndrome 2	Natal tooth, Atrial septal defect, Broad nasal tip, Lower lip pit, Hip dislocation, Dental malocc...	OMIM:300867
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar...	OMIM:187600
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Micropenis, Clubbing of fingers, Gingival bleeding, Left ventricular hy...	ORPHA:335
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Camptodactyly of finger, Cleft palate, Pulmonary hypoplasia, Absent palmar...	ORPHA:994
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Bilateral cleft lip and pal...	OMIM:619339
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Prominent nose, Hy...	OMIM:619268
Richieri-Costa/Guion-Almeida Syndrome	Cleft upper lip, Cleft palate, Palmoplantar cutis laxa, Spina bifida occulta, Abnormal digit morp...	OMIM:268850
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Narrow nasal tip, Promi...	ORPHA:464306
Pai Syndrome	Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula	ORPHA:1993
Hajdu-Cheney Syndrome	Downturned corners of mouth, Periodontitis, Partial absence of toe, Hepatomegaly, Anteverted nare...	ORPHA:955
Joubert Syndrome 37	Hepatomegaly, Wide nose, Anteverted nares, Postaxial polydactyly, Wide nasal bridge, High palate,...	OMIM:619185
Joubert Syndrome 20	4-5 toe syndactyly, Renal cyst, Postaxial polydactyly	OMIM:614970
Pde4D Haploinsufficiency Syndrome	Prominent nose, Short metatarsal, Short philtrum, Bilateral coxa valga, Short phalanx of finger, ...	ORPHA:439822
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, High palate, Anemia, Long philtrum	ORPHA:2598
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Short metatarsal, Renal cyst, Widely spaced teeth, High palate...	OMIM:266920
Cockayne Syndrome Type 2	Anophthalmia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely spaced p...	ORPHA:90322
Cholesteryl Ester Storage Disease	Hepatomegaly, Hepatic foam cells, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thr...	OMIM:278000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Asplenia, Calcan...	ORPHA:261537
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Microphthalmia, Pelvi...	OMIM:617244
Cohen Syndrome	High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Arachnoda...	ORPHA:193
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus totalis, Mitral valve pro...	OMIM:609008
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Wrist flexion contracture, Access...	OMIM:268300
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger	ORPHA:231140
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Broad hallux phalanx, Cataract, Corneal opacity, Hydrocephal...	ORPHA:585
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch...	OMIM:614099
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri...	OMIM:614207
Fetal Valproate Spectrum Disorder	Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi...	ORPHA:1906
Myhre Syndrome	Abnormal penis morphology, Brachydactyly, Hypospadias, Narrow mouth, Epispadias, Submucous cleft ...	ORPHA:2588
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, Microphthalmia, High palate, Cleft palate	ORPHA:1135
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou...	OMIM:236700
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, Depressed nasal ridge, Orofacial c...	OMIM:607872
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short philtrum, Short nose	ORPHA:2429
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Branchial cyst, Congenital hip dislocation, Branchial fistula...	OMIM:113650
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Birt-Hogg-Dube Syndrome 1	Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Renal cell carcin...	OMIM:135150
Lathosterolosis	Bilobate gallbladder, High palate, Thick upper lip vermilion, Anteverted nares, Increased mean pl...	OMIM:607330
Fg Syndrome 5	Depressed nasal bridge, Hypospadias, Anteverted nares, Short nose	OMIM:300581
Cutis Laxa, Autosomal Recessive, Type Ib	Arachnodactyly, Depressed nasal bridge, Arterial tortuosity, Bulbous nose, Emphysema, Aortic root...	OMIM:614437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Coloboma, Microphthalmia	OMIM:613153
Mowat-Wilson Syndrome	Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Asplenia, Gastro...	ORPHA:2152
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Atrial septal d...	ORPHA:857
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Abnormality of canin...	ORPHA:364577
Nijmegen Breakage Syndrome	Anal stenosis, Recurrent urinary tract infections, Sandal gap, Recurrent bronchitis, Choanal atre...	OMIM:251260
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Orofacial cleft, Downturned corners of mouth, Short philtrum, Ga...	OMIM:194190
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Arachnodactyly, Thoracic aortic aneurysm, Var...	OMIM:619656
Acromelic Frontonasal Dysplasia	Median cleft lip, Broad nasal tip, Bifid nasal tip, Patellar hypoplasia, Wide mouth, Talipes equi...	ORPHA:1827
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo...	ORPHA:261183
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Hypoplastic ilia, A...	ORPHA:1860
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prominent superficial veins, Dental crowding, Narrow nasal ridge, Stage 5 chronic kidney disease,...	OMIM:608612
Pallister-Hall Syndrome	Ectopic kidney, Abnormal lung lobation, Depressed nasal ridge, Atrial septal defect, Atrioventric...	ORPHA:672
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Hypospadias, Hypercalciuria,...	OMIM:614732
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Weill-Marchesani Syndrome 2	Iridodonesis, Short metacarpal, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Short...	OMIM:608328
Neurooculorenal Syndrome	Hypoplasia of the bladder, Intestinal malrotation, Short hallux, Dextrocardia, Unilateral renal a...	OMIM:620305
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Renal hypoplasia, Short foo...	ORPHA:264200
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Renal malrotation, Anteverted nares, Depressed nasal bridge, Underdeve...	OMIM:615866
Waardenburg Syndrome Type 1	Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underdeveloped nasal alae, Wi...	ORPHA:894
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border...	ORPHA:544254
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph...	ORPHA:884
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, High palate, Atrial septal defect, Bilateral coxa valga, Patent foram...	OMIM:615582
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Renal malrotation, Transient neutropenia, Ventricular septal defect, Bowing of t...	OMIM:617107
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Depressed nasal bridge, Hy...	ORPHA:912
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Cleft palate, Abnormal shoulde...	ORPHA:2345
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, High,...	ORPHA:3472
Limb Body Wall Complex	Atrial septal defect, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones...	ORPHA:2369
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata...	OMIM:611773
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Osteogenesis Imperfecta	Abnormality of dental color, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Fe...	ORPHA:666
Trisomy 10P	Orofacial cleft, High palate, Gastroesophageal reflux, Abnormal hip joint morphology, Absent gall...	ORPHA:171929
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abd...	ORPHA:91387
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Gingival overgrowth, Wide nasal b...	OMIM:619179
Trisomy 20P	Downturned corners of mouth, Short philtrum, Microdontia, Finger syndactyly, Anteverted nares, Hy...	ORPHA:261318
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and palate,...	OMIM:618874
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Micromelia, Postaxial hand polydactyly, Hypoplasia of the small intestine, Pul...	OMIM:200995
Pulmonary Hypertension, Primary, 1	Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros...	OMIM:178600
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Anemia	ORPHA:75233
Monosomy 18P	Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodontia, Holoprosenc...	ORPHA:1598
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Tibial bowing, Long hallux, Multicystic kidney dysplasia, Varicose veins, ...	ORPHA:500095
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Renal cyst, Pulmonary hypoplasia, Dysphagia...	OMIM:615636
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Ventricular septal defect, Depressed nasal...	OMIM:258315
Marfan Syndrome	Dental crowding, Bicuspid aortic valve, Equinus calcaneus, Increased axial length of the globe, H...	OMIM:154700
Arthrogryposis, Distal, Type 2A	Dental crowding, High palate, Wrist flexion contracture, Ulnar deviation of the hand or of finger...	OMIM:193700
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Cubitus valgus, Widely spaced teeth, Camptodactyly, Microdontia, Micropht...	OMIM:619694
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Vascular dilatation,...	OMIM:616307
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Underdeveloped nasal alae, Me...	OMIM:250410
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Congenital hepatic fib...	ORPHA:2031
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Cataract	OMIM:614307
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hydrocephalus, Hypoplasia of the iris, Subvalvular aortic stenosis, At...	OMIM:613001
Macrocephaly/Autism Syndrome	Hepatomegaly, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Penile freckling, Splenom...	OMIM:605309
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Carious teeth, Recurrent pneumonia, El...	OMIM:214150
Trisomy X	Clinodactyly of the 5th finger, Hip dysplasia, Multicystic kidney dysplasia, Renal hypoplasia/apl...	ORPHA:3375
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Anteverted nares, Unilateral renal a...	ORPHA:457284
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Nephrocalcinosis, Short palm, Micropenis, Duplicatio...	OMIM:268310
Coffin-Siris Syndrome 11	Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Small hand, Downturn...	OMIM:618779
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanoc...	ORPHA:54
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Joubert Syndrome 23	Coloboma, Polydactyly	OMIM:616490
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m...	ORPHA:1071
3Mc Syndrome 2	Hypospadias, Prominent nasal bridge, Limited elbow movement, Cleft upper lip, Hip dislocation, Wi...	OMIM:265050
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Aplasia of the pectoralis major muscle, Pierr...	ORPHA:1358
Chromosome 19Q13.11 Deletion Syndrome, Distal	Overlapping toe, Anteverted nares, Hypospadias, Underdeveloped nasal alae, Carious teeth, Wide na...	OMIM:613026
Knobloch Syndrome	Depressed nasal bridge, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Vesicoureteral ...	ORPHA:1571
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal bridge, Bulbous nose, Vesicourete...	OMIM:618828
Warburg Micro Syndrome 1	Microphthalmia, Thin vermilion border, Overlapping toe, Narrow mouth	OMIM:600118
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation	ORPHA:2743
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:457279
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Asplenia, Orofacial cleft, High palate, ...	ORPHA:221120
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Dental crowding, Narrow nasal ridge, Underdeveloped nasal alae, Vascular dilat...	OMIM:618343
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Single transverse palmar crease, Metatarsus adduct...	OMIM:214110
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Optic di...	ORPHA:233
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Hydrocep...	OMIM:100800
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, M...	OMIM:613457
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Pneumothorax, Glandular hypospadias, Talipes equinovarus, Pulmonary hy...	OMIM:620306
Glycogen Storage Disease Iv	Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Tubulointer...	OMIM:232500
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Dilatation of the renal pelvis, Inflammation of the large...	OMIM:619708
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h...	OMIM:602782
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Prominent nasal bridge, Hypospadias, Oral-pharyngeal dysphagia, Long nose, Trach...	OMIM:619184
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Ulnar bowing, Shortening of all distal phalange...	OMIM:619135
Ohdo Syndrome	Anteverted nares, Depressed nasal bridge, Proteinuria, Wide nasal bridge, Hypoplasia of teeth, Th...	OMIM:249620
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Xerostomia, O...	OMIM:129900
Warsaw Breakage Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Wide mouth, High ...	OMIM:613398
Subaortic Stenosis-Short Stature Syndrome	Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microdontia, Microphthalmia,...	ORPHA:3191
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Optic nerve hypoplasia, Short philtrum, Open mouth, Short nose	ORPHA:228384
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Wide nose, Neurogenic bladder, Protruding tongue, Secundum atrial septal defect, Sp...	OMIM:608779
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Pneumonia, Depressed nasal bridge, Recurrent upper respiratory tract infections...	OMIM:614069
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Anteverted nares, Depressed nasal bridge, Intraventricular hemorrhage, Wide nasal bri...	OMIM:616430
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ...	OMIM:147891
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Tetrasomy 18P	Large hands, Thin vermilion border, Narrow mouth, Achalasia, Short nose, Long philtrum	ORPHA:3307
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Sponastrime Dysplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip...	ORPHA:93357
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl...	ORPHA:246
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Prominent nasal bridge, ...	ORPHA:313781
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus	OMIM:300500
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Respiratory tract infection, Long fingers, 2-3 toe syndactyly, Wide nasal bridge,...	OMIM:218000
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Prominent nose, Abnormal periodontium morphology, High palate, Atrial...	ORPHA:480880
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Limited elbow move...	OMIM:261540
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Anosmia, Bronchiectasi...	OMIM:244400
Marshall-Smith Syndrome	Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto...	OMIM:602535
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Marshall Syndrome	Clinodactyly of the 5th finger, Small proximal tibial epiphyses, Thick upper lip vermilion, Bifid...	OMIM:154780
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Asplenia, Calcan...	ORPHA:261552
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Cardiomyopathy, Short philtrum, Prolonged neonatal jaundice,...	OMIM:618437
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Bilateral single transverse palmar ...	ORPHA:44
Mowat-Wilson Syndrome	Delayed eruption of teeth, Prominent nasal tip, Aganglionic megacolon, Pulmonary artery sling, Ve...	OMIM:235730
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Vesicoureteral reflux, Microdon...	ORPHA:96169
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Hepatosplenomeg...	ORPHA:505248
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral...	ORPHA:93307
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Donnai-Barrow Syndrome	Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Proteinuria, Short nose	ORPHA:2143
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Recurrent upper respir...	ORPHA:3078
Achondrogenesis Type 1A	Short palm, Anteverted nares, Micromelia, Short foot, Aplasia/Hypoplasia of the lungs, Long philt...	ORPHA:93299
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo...	ORPHA:453504
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Pulmonary hypoplasia	OMIM:245650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo...	ORPHA:352665
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, High, narrow palate, Supernumerary tooth, Small hand, Oligodontia, Unilateral ...	ORPHA:1787
Nanophthalmos 4	Microphthalmia	OMIM:615972
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus	ORPHA:1528
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Short foot, Aplasia/Hypoplasia of the lungs, Talipes equinovarus, L...	ORPHA:93298
Fibromuscular Dysplasia, Multifocal	Tortuous cerebral arteries, Dental crowding, Narrow nose, Hiatus hernia, Vertebral artery tortuos...	OMIM:619329
Juvenile Paget Disease	Abnormality of retinal pigmentation, Bowing of the long bones, Optic atrophy, Melanocytic nevus, ...	ORPHA:2801
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Prominent superficial veins, Aplasia/hypoplasia involving ...	ORPHA:75508
Lowry-Wood Syndrome	Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Pigment...	OMIM:226960
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Single transverse palmar crease, Urinary incontinence, Long nose, Downturned ...	OMIM:619522
Renpenning Syndrome 1	High palate, Short philtrum, Atrial septal defect, Clinodactyly of the 5th finger, Hypospadias, W...	OMIM:309500
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
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Slender nose, Wide mouth, Gastroesophageal reflux, Short nose, Smooth p...	OMIM:615419
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia, Acetabu...	OMIM:201180
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
Aase-Smith Syndrome I	Ventricular septal defect, Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender ...	OMIM:147800
Laurin-Sandrow Syndrome	Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact...	OMIM:135750
Geleophysic Dysplasia 1	Short palm, Hepatomegaly, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valg...	OMIM:231050
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Wide nose, Anteverted nares, Down-sloping shoulders, Deviation of the 5...	ORPHA:391408
Zttk Syndrome	Unilateral lung agenesis, Downturned corners of mouth, High palate, Short philtrum, Atrial septal...	OMIM:617140
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Hiatus hernia, Narrow mouth, Hip disloc...	OMIM:617729
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia	OMIM:614583
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, A...	ORPHA:73246
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Finger syndactyly, Patchy atrophy of the retinal pigment epi...	ORPHA:1433
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hydro...	OMIM:616362
Werner Syndrome	Renal neoplasm, Rocker bottom foot, Abnormal cerebral vascular morphology, Convex nasal ridge, Pu...	ORPHA:902
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Accessory spleen, Rhizomelia, Overlapping toe, Arachnoda...	ORPHA:3379
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Gastroesophageal reflux...	OMIM:615873
Radio-Renal Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Depressed nasal bridge, Renal agenesis, Micromelia...	ORPHA:3015
Congenital Disorder Of Glycosylation, Type Ia	Thin upper lip vermilion, Villous atrophy, Pericarditis, Depressed nasal bridge, Proteinuria, Hep...	OMIM:212065
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Tapered finger, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum...	OMIM:620250
Jacobsen Syndrome	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Anteverted nar...	OMIM:147791
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Hydroureter, Abnormal dental morphology, Camptodact...	ORPHA:568
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Xerostomia, A...	OMIM:604292
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Aminoaciduria, Thick vermilion border, Long philtrum	ORPHA:833
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Prominent nasal bridge, Hypospadias, Tapered finger, Unilateral renal ...	ORPHA:464311
Greenberg Dysplasia	Micromelia, Abnormal lung lobation, Tetraphocomelia, Tracheal calcification, Hypoplasia of the ca...	OMIM:215140
Joubert Syndrome 2	Encephalocele, Renal insufficiency, Postaxial hand polydactyly, Hydrocephalus, Renal cyst, Postax...	OMIM:608091
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st...	OMIM:620067
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Median cleft lip, High palate, Bifid uvula	OMIM:155145
Joubert Syndrome 39	Occipital encephalocele, Postaxial polydactyly, Hypoplastic left heart, Joint contracture of the ...	OMIM:619562
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract	OMIM:616722
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Talipes equinovarus	OMIM:616171
Lethal Congenital Contracture Syndrome Type 1	Slender long bone, Abnormality of the elbow, Pulmonary hypoplasia, Abnormal hip bone morphology	ORPHA:1486
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Tented upper lip vermilion, Tapered toe, Shoulder flexion cont...	OMIM:620369
Cystic Echinococcosis	Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Eosinophi...	ORPHA:400
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Anteverted nares, Choanal atresia, Abnormal renal morpho...	ORPHA:83
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Clinodactyly, Hypoplastic pubic bone,...	OMIM:184250
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Ventricular septal de...	OMIM:613884
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Occipital meningocele, Bilateral cleft lip, Alobar holo...	OMIM:610828
Fanconi Anemia, Complementation Group S	Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Microphthalmia, Cli...	OMIM:617883
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology	ORPHA:370091
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Underdevelop...	ORPHA:2083
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypospadias, Cleft upper lip, Abnormality o...	OMIM:304110
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis	ORPHA:2111
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Downturned corners of mouth, Glossoptosis, High palate, Gastroesophageal reflux, Aspiration pneum...	ORPHA:444077
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Rod-cone dystrophy, Postaxial polydactyly, Brachydactyly	OMIM:615633
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Pulmonary hypoplasia, Talipes equinovarus, Renal dysplasia	OMIM:191830
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ...	OMIM:612394
Senior-Loken Syndrome 9	Retinal dystrophy, Hypoplasia of the femoral head, Macular degeneration, Polydactyly, Rod-cone dy...	OMIM:616629
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Dental crowding, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ...	OMIM:617168
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Myhre Syndrome	Short philtrum, Hypoplastic iliac wing, Atrial septal defect, Pericardial effusion, Cleft lip, Sh...	OMIM:139210
Ramon Syndrome	Abnormality of retinal pigmentation, Abnormal anterior chamber morphology	ORPHA:3019
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose, Multiple palmar creases	OMIM:611936
Abruzzo-Erickson Syndrome	Coloboma	OMIM:302905
Genitopatellar Syndrome	Congenital hip dislocation, Anteriorly placed anus, Atrial septal defect, Micropenis, Short phala...	OMIM:606170
Severe Congenital Nemaline Myopathy	Hypospadias, Pulmonary hypoplasia, Dysphagia, Micropenis, Adducted thumb	ORPHA:171430
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar...	OMIM:175050
Microphthalmia, Syndromic 13	Microphthalmia, Widely-spaced incisors	OMIM:300915
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
2P15P16.1 Microdeletion Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of fing...	ORPHA:261349
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Renal artery aneurysm, Pancytopenia, Portal hypertension, Splenomegaly, Aphthous ul...	OMIM:615688
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Cockayne Syndrome Type 1	Renal insufficiency, Anophthalmia, Proteinuria, Delayed eruption of primary teeth, Abnormality of...	ORPHA:90321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphth...	OMIM:613150
Trisomy 9P	Dental crowding, Bilateral single transverse palmar creases, Abnormal nasal morphology, Non-midli...	ORPHA:236
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Tapered...	OMIM:618430
Restrictive Dermopathy	Natal tooth, Ureteral duplication, Hypospadias, Camptodactyly of finger, Dextrocardia, Large plac...	ORPHA:1662
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Thin upper lip vermilion, Atrial septal defect, Toe syndactyly, Ventricular septal defect, Single...	ORPHA:459070
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Renal cyst, Gastroeso...	OMIM:113620
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Anteverted nares, Pneumonia, Depressed nasal bridge, Malabsorption, Protruding tongue, Bronchiect...	OMIM:242860
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Melanocytic Nevus Syndrome, Congenital	Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion...	OMIM:137550
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T...	ORPHA:1307
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Micromelia, Wide nasa...	OMIM:610015
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Preaxial hand polydactyly, Respiratory infections in early life...	ORPHA:96179
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus	OMIM:614830
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Achondrogenesis	Anteverted nares, Micromelia, Aplasia/Hypoplasia of the lungs, Long philtrum, Short nose	ORPHA:932
Neu-Laxova Syndrome	Abnormality of the philtrum, Micromelia, Spina bifida, Submucous cleft hard palate, Cleft palate,...	ORPHA:2671
Manitoba Oculotrichoanal Syndrome	Omphalocele, Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia	OMIM:248450
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Triphal...	ORPHA:124
Ring Chromosome 7 Syndrome	Anteverted nares, Single transverse palmar crease, Prominent nasal bridge, Hypospadias, Situs inv...	ORPHA:1449
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft lip, Meningocele, Hip dislocation, Bilateral cleft lip and palate, Tooth agenesis	ORPHA:2003
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thin upper lip vermilion, Hepatomegaly, Depressed nasal bridge, Choanal atresia, Portal hypertens...	OMIM:610199
Coach Syndrome 2	Coloboma, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Pro...	OMIM:200600
Opsismodysplasia	Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Abnormal epi...	ORPHA:2746
Frontorhiny	Encephalocele, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Basal encephalocele, C...	ORPHA:391474
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Deep philtrum, High palate, Gastroesophageal reflux, Atr...	OMIM:115150
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia, Intestinal malrotation	ORPHA:2140
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Prominent superficial veins, Aplasia of the nasal bone,...	OMIM:601812
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Occipital encephalocele, Cataract, Optic nerve hypoplasia, Hydrocephalus, Opt...	ORPHA:370959
X-Linked Intellectual Disability, Cantagrel Type	Gastroesophageal reflux, Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anophthalmia, Anteverted nares, Wide nasal bridge, Thick vermilion border, Chylothorax...	ORPHA:2526
Stickler Syndrome	Depressed nasal ridge, Glossoptosis, Gastroesophageal reflux, Advanced eruption of teeth, Arachno...	ORPHA:828
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, A...	OMIM:617092
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Hypospadias...	ORPHA:2311
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Cardiomegaly, Narrow mouth, Everted lower lip vermilion, Pulmonary h...	OMIM:608013
Mulibrey Nanism	Corneal dystrophy, Single transverse palmar crease, Thickened cortex of long bones, Pigmentary re...	OMIM:253250
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Narrow pa...	ORPHA:109
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Coxa valga, Deep phi...	OMIM:619833
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dilated cardiomyopathy, D...	ORPHA:89842
Pterygium Colli, Isolated	Short nose	OMIM:177990
Congenital Varicella Syndrome	Microphthalmia, Micromelia	ORPHA:291
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Oligodontia, Hi...	ORPHA:453499
Pierson Syndrome	Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu...	OMIM:609049
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip	OMIM:616994
Achondrogenesis, Type Ii	Broad long bones, Edema, Short tubular bones of the hand, Abnormally large globe, Polyhydramnios,...	OMIM:200610
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Weill-Marchesani Syndrome 1	Cataract, Ectopia lentis, Microspherophakia, Broad palm, Shallow anterior chamber, Broad phalange...	OMIM:277600
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Increased density of long bone diaphyses, High ...	OMIM:305620
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Abnormality of the dentition, Esophageal stric...	OMIM:613989
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda...	OMIM:257850
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Dysphagia, Anemi...	OMIM:226600
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, High iliac wing, Cle...	ORPHA:2780
Refsum Disease	Abnormality of retinal pigmentation, Short metacarpal, Cataract, Hammertoe, Abnormal epiphysis mo...	ORPHA:773
16P11.2P12.2 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Long nose...	ORPHA:261211
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Cleft pa...	ORPHA:2167
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Abnormal heart morphology, Hip dysplasia, Gastroesophagea...	ORPHA:494344
Familial Benign Copper Deficiency	Diaphyseal thickening, Aplasia/Hypoplasia of the fovea	ORPHA:1551
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat...	OMIM:180700
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Shoulder dislocation, Microdontia, A...	OMIM:245600
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Venous insufficiency, Abn...	ORPHA:33276
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Autoimmune thrombocytopenia, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urin...	OMIM:601389
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent urinary tract infections, Pyloric stenosis, Dilat...	ORPHA:90349
Classical-Like Ehlers-Danlos Syndrome Type 2	Equinus calcaneus, Prominent veins on trunk, Shoulder dislocation, High palate, Periodontitis, Pr...	ORPHA:536532
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Stroke-like episode, Renal ...	ORPHA:137675
Intellectual Developmental Disorder, Autosomal Dominant 1	Prominent nose, Depressed nasal ridge, Downturned corners of mouth, Widely spaced teeth, Gastroes...	OMIM:156200
Immunodeficiency 23	Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, All...	OMIM:615816
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Long nose, Dental malocclusion, Abnorm...	ORPHA:2115
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl...	OMIM:119800
Aymé-Gripp Syndrome	Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Rocker bottom foot, Proteinuria, ...	ORPHA:1272
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Short nose, Hip dysplasia	OMIM:617183
Joubert Syndrome 27	Dilatation of the renal pelvis, Thick lower lip vermilion, Polydactyly	OMIM:617120
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Transient is...	ORPHA:774
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Arachnodactyly, Bicuspid aortic valve, Abnormality of the hand, Cereb...	ORPHA:536545
Culler-Jones Syndrome	Cleft palate, Micropenis, Postaxial polydactyly, Cleft upper lip	OMIM:615849
Mend Syndrome	Overlapping toe, Broad hallux, Asymmetry of the mouth, Long fingers, Hydrocephalus, 2-3 toe synda...	ORPHA:401973
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of finger, Abnorma...	ORPHA:284160
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger	ORPHA:2521
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Vascular dilatation	OMIM:277320
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Sandal gap, Optic nerve hypoplasia, Anteverted nares, Depressed nasal b...	ORPHA:357001
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Coloboma, Clinodactyly of the 5th finger, M...	OMIM:617306
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Abnormality of retinal pigmentation	ORPHA:1496
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef...	ORPHA:107
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Macular hypoplasia, Chorioretinal colo...	OMIM:615219
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Ventricular septal defect, Anteverted...	OMIM:609942
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, T...	OMIM:616638
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Small hand, Short foot, Thin vermilion border, Short palm, Microphthalm...	OMIM:241410
Cerebellar Ataxia-Hypogonadism Syndrome	Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Myoclonic-Astatic Epilepsy	Syndactyly, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro...	ORPHA:1942
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology	ORPHA:3222
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Microdontia, Hiatus hernia, Short thumb, Micropenis...	OMIM:300895
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Single transverse palma...	OMIM:614866
Bainbridge-Ropers Syndrome	Dental crowding, Contracture of the proximal interphalangeal joint of the 4th finger, High palate...	OMIM:615485
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port...	ORPHA:64743
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo...	OMIM:618727
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Pulmonary ...	OMIM:617237
Fetal Hydantoin Syndrome	Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Triphalangeal thumb...	ORPHA:1912
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Non-midlin...	ORPHA:1300
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Camptodactyly of finger, Abnormal pleura morphology, Renal hypoplasia/aplasia, Aplasia/Hypoplasia...	ORPHA:2570
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Gastrointestinal inflammation, A...	ORPHA:79404
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Atrial septal ...	OMIM:194050
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Talipes equinovarus	OMIM:617255
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr...	ORPHA:897
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Osteoglophonic Dysplasia	Short metatarsal, Eruption failure, High palate, Short palm, Short phalanx of finger, Pseudoarthr...	OMIM:166250
Trichohepatoenteric Syndrome 1	Villous atrophy, Depressed nasal ridge, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Anteverted n...	OMIM:222470
Intellectual Developmental Disorder, X-Linked 98	Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, Depressed nasal br...	OMIM:300912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Meningoencephalocele, Hydroceph...	OMIM:236670
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery, Aganglionic megacolon, Abnormality of the kidney	ORPHA:895
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of...	OMIM:610682
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular acidosis, Tongue...	OMIM:614922
X-Linked Dominant Chondrodysplasia Punctata	Anomalous tracheal cartilage, Abnormal lung morphology, Neonatal epiphyseal stippling, Hip disloc...	ORPHA:35173
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Short metatarsal, Oligodontia, High palate, Short palm, Clinodactyly of the 5th ...	OMIM:170390
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Impaired myocardial cont...	ORPHA:158687
X-Linked Mandibulofacial Dysostosis	Prominent nasal bridge, High palate, Pulmonic stenosis, Abnormal mitral valve morphology, Abnorma...	ORPHA:1131
Fanconi Anemia, Complementation Group Q	Absent thumb, Esophageal atresia, Biliary atresia, Primum atrial septal defect, Anteriorly placed...	OMIM:615272
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Gastroesophageal reflux, Short nose	OMIM:620292
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty...	OMIM:620072
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Mixed astigmatism, Attenuation of re...	OMIM:617023
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Proteinur...	ORPHA:1018
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Palmoplantar keratoderma, Spotty hyperp...	ORPHA:324737
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Donnai-Barrow Syndrome	Ventricular septal defect, Intestinal malrotation, Depressed nasal bridge, Broad nasal tip, Prote...	OMIM:222448
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Sandal gap, Single transverse palmar crease, Short hallux, Tapered fing...	OMIM:608156
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ove...	OMIM:616738
Noonan Syndrome	Hepatomegaly, Abnormal pulmonary valve morphology, Abnormality of the spleen, Pulmonary artery st...	ORPHA:648
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Hydrocephalus, Coloboma, Microphthalmia, Retinal degeneration	OMIM:615249
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Short nose, High palate	OMIM:615042
Atelosteogenesis, Type I	Short metatarsal, Tibial bowing, Encephalocele, Short metacarpal, Radial bowing, Depressed nasal ...	OMIM:108720
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Short nose, Promine...	ORPHA:357074
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Prolidase Deficiency	Hepatomegaly, Depressed nasal bridge, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Rec...	OMIM:170100
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Sandal gap, Abnormal retinal vascular morphology, ...	ORPHA:2715
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Narrow mouth, Humeroradial synostosis...	ORPHA:3404
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth,...	OMIM:614230
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Arachnodactyly, Bulbous nose, Thin vermilion border, Long philtrum, Short nose,...	OMIM:616420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae...	OMIM:613154
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Cleft palate	OMIM:243440
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Aortic...	ORPHA:2072
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension	OMIM:617068
Restrictive Dermopathy 1	Natal tooth, Ureteral duplication, Hypospadias, Rocker bottom foot, Patent ductus arteriosus, Sub...	OMIM:275210
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, High, ...	OMIM:208150
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced t...	OMIM:617865
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Absent thumb, Absent radius, Short thumb, Ectopic k...	OMIM:227650
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Anteverted nares, Intrahepatic cholestasis, Po...	ORPHA:46059
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Patent ductus arteriosus, Arteri...	ORPHA:1556
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Hydroce...	ORPHA:77301
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Cataract, Rem...	OMIM:619539
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormality of the urinary system, Abnormal limb bone morphology, Aplasia/Hypop...	ORPHA:2204
Rabson-Mendenhall Syndrome	Atrial septal defect, Wide nose, Dental crowding, Ventricular septal defect, Anteverted nares, Ab...	ORPHA:769
Kabuki Syndrome	Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den...	ORPHA:2322
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Stage 5 chronic kidney disease, Brachydactyly	OMIM:613819
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c...	OMIM:616788
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Wide nose, Anophthalmia, Hypospadias, Abnormal dental enamel morpholog...	ORPHA:2556
Atelis Syndrome 2	Single transverse palmar crease, Diastema, Patent ductus arteriosus, Thick lower lip vermilion, S...	OMIM:620185
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy, Broad palm, Subcapsular cataract	OMIM:268020
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Abnormality of the liver...	ORPHA:2911
Joubert Syndrome 8	Optic disc pallor, Occipital encephalocele, Pigmentary retinopathy	OMIM:612291
Mend Syndrome	Crossed fused renal ectopia, Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe ...	OMIM:300960
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Occipital encephalocele, Band keratopathy, Chorioretinal a...	OMIM:267750
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Absent thumb, Absent radius, Short thumb, Ectopic k...	OMIM:600901
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Depressed na...	ORPHA:647
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease...	OMIM:269150
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Recurrent pneumonia, Hip dislocation, Elbow flexion contracture, Mitral valv...	ORPHA:1900
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Femoral bowing, Anteriorly placed anus, Gastroesophageal reflux, Choanal ste...	ORPHA:95699
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Abnormal morphology o...	ORPHA:1340
Geleophysic Dysplasia 2	Mitral stenosis, Tricuspid stenosis, Mitral valve prolapse, Cone-shaped epiphysis, Short foot, Ao...	OMIM:614185
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Downturned corners of mouth, Widely...	ORPHA:199
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn...	DECIPHER:81
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Patent ductus arteriosus, Cle...	ORPHA:52055
Maternal Uniparental Disomy Of Chromosome 6	Slender long bone, Thrombocytopenia, Cleft palate, Cleft upper lip	ORPHA:96181
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, High, narrow palate, Abnormality of the gingiva, Epispadias, Cox...	ORPHA:3107
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Palmoplantar keratoderma, Retinopathy, Corneal opacity	ORPHA:578
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Hip dislocation	ORPHA:370968
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Hypoplasia of penis, Spina bifida occulta, Genu valgum	ORPHA:2983
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp...	ORPHA:989
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Sandal gap, Anteverted nares, Depressed nasal bridge, Underdeve...	OMIM:616835
Meckel Syndrome 13	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:617562
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, Abnormality of the kid...	OMIM:209900
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose	OMIM:618774
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Occipital Horn Syndrome	Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Sho...	ORPHA:198
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Abnormality of the dentition, Cleft upper lip	OMIM:273400
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Kinsship Syndrome	Single transverse palmar crease, Downturned corners of mouth, Short philtrum, Widely spaced teeth...	OMIM:619297
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
Familial Visceral Myopathy	Hydroureter, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Anteverted nares, Pr...	ORPHA:2604
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile duct morpholo...	ORPHA:731
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, Femoral bowin...	OMIM:616723
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Overlapping toe, Arachnodactyly, Single transverse palmar crease, Contracture of the distal inter...	ORPHA:83617
Alport Syndrome	Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi...	ORPHA:63
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Pigmentary reti...	ORPHA:88628
20Q11.2 Microduplication Syndrome	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Tented philtrum, Gingival o...	ORPHA:363659
Cutis Laxa, Autosomal Recessive, Type Iic	Dental crowding, Nephrocalcinosis, High palate, Atrial septal defect, Micropenis, Patent foramen ...	OMIM:617402
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Left atrial enlargement, Clubbing of toes, Right ventricular di...	ORPHA:99106
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Esophageal varix, Hepatosplenomegaly, ...	ORPHA:367
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutacon...	ORPHA:445038
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Slender long bone, Cubitus valgus, Short nose, Spina bifida occulta	ORPHA:1185
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic nerve hypoplasia, Hip dysplasia, 3-Methylglutaconic aciduria, Hypertrophic cardiomyopathy, ...	ORPHA:496790
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Rieger anomaly, Tented upper lip vermilion, Abnormality of the kidney, Tapered finger, Vertebroba...	ORPHA:521445
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Duplicated collecting system, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot...	ORPHA:488642
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Anteverted nares, Prominent nasa...	ORPHA:1454
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Renal cy...	OMIM:601803
Dermotrichic Syndrome	Depressed nasal bridge, Aganglionic megacolon, Aminoaciduria, Short nose, Anemia	ORPHA:99688
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Pulmonary hypoplasia	OMIM:267430
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Cerebrofaciothoracic Dysplasia	Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum	ORPHA:1394
Distal Deletion 9P	Hypospadias, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, ...	ORPHA:1642
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal ...	ORPHA:79409
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Hydrocephalus, Red...	ORPHA:228308
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia,...	ORPHA:175
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Aicardi Syndrome	Intestinal polyposis, Cleft upper lip, Hiatus hernia, Malabsorption, Small hand, Cleft palate, Hi...	ORPHA:50
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis, Dysphagia	OMIM:308350
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas...	OMIM:617666
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Thin upper lip vermilion, Arachnodactyly, Intestinal malrotation, Hiatus hernia, Narrow mouth, Pn...	OMIM:601776
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Hepatomega...	ORPHA:667
Hartsfield Syndrome	Syndactyly, Median cleft lip, Hypospadias, Cleft upper lip, Alobar holoprosencephaly, Cleft palat...	OMIM:615465
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Scapular winging, Acute pancreatitis, Depressed nasal bridge, Glutaric aciduria, La...	ORPHA:26791
Peroxisome Biogenesis Disorder 11A (Zellweger)	Depressed nasal bridge, Multiple renal cysts, Anteverted nares, Renal cyst	OMIM:614883
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Gastrointestinal dysmotility, Downturned corners of mouth, Short philtr...	ORPHA:500150
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Arachnodactyly, Dental crowding, Esophageal varix, Gen...	ORPHA:394
Peho Syndrome	Open mouth, Tented upper lip vermilion, Short nose, Tapered finger	OMIM:260565
Foxg1 Syndrome Due To 14Q12 Microdeletion	Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglossia, Everted lower lip...	ORPHA:261144
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, Depressed nasal bridge, High, narrow...	OMIM:619575
Nance-Horan Syndrome	Supernumerary tooth, Microphthalmia, Short metacarpal, Abnormality of the dentition	ORPHA:627
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Neutropenia, Genu varum, Rhizomelia, Ante...	OMIM:271510
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Ce...	OMIM:614034
Hypertelorism-Microtia-Facial Clefting Syndrome	Thenar muscle atrophy, Bifid nasal tip, Horseshoe kidney, Bifid nose, Crossed fused renal ectopia...	ORPHA:2213
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Recurrent respiratory infections, Anteverted nares, Cleft soft palate, Hypospadias, Patent ductus...	ORPHA:2282
Chromosome 17Q12 Deletion Syndrome	Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect...	OMIM:614527
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Ectopic kidney, Prominent interphalangeal joints,...	OMIM:135900
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chroni...	OMIM:243910
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Myelomeningocele...	ORPHA:94065
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Tapered finger, Intraventricular hemorrhage, Wide nasal bridge, Short colu...	OMIM:613603
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ...	ORPHA:2241
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Tracheal calcification, Epiphyseal stippling, Abnormal pelvic ...	OMIM:302960
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Gingivitis, Gastroin...	ORPHA:286
Faciocardiorenal Syndrome	Underdeveloped nasal alae, Narrow mouth, Wide nasal bridge, Cleft palate, Horseshoe kidney, Hypod...	ORPHA:1973
Immunodeficiency 12	Abnormal lymphocyte count, Esophageal stricture, Clubbing, Cheilitis, Bronchiectasis, Recurrent a...	OMIM:615468
Leopard Syndrome 1	Scapular winging, Hypospadias, Limited elbow movement, Unilateral renal agenesis, Complete atriov...	OMIM:151100
Toluene Embryopathy	Tapered finger, Abnormal localization of kidney, Thin vermilion border, Short nose, Hydronephrosi...	ORPHA:1920
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Scapular winging, Hypospadias, Abnormal pulmonary valve morpholo...	ORPHA:500
Multiple Benign Circumferential Skin Creases On Limbs	Hypospadias, Cleft palate, Upper limb asymmetry, Umbilical hernia, Long philtrum, Microphthalmia	ORPHA:2505
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, ...	ORPHA:534
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Pulmonary cyst, Abnormal pericardium morphology, Liver abscess, ...	ORPHA:284
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy	OMIM:618805
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Dysphagia, Recurrent lower respiratory tract infections, Vol...	OMIM:617802
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,...	ORPHA:2788
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Tapered finger, Hip dysplasia, Hypodontia, Finger joint hypermobility, Metac...	ORPHA:544503
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Abnormality of the dentition, Conical tooth, Microphthalmia, Broad philtrum	ORPHA:228390
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract	OMIM:613763
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Cln3 Disease	Pigmentary retinopathy, Cataract, Optic atrophy, Bull's eye maculopathy	ORPHA:228346
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Tapered finger, Underdeveloped nasal alae, Bulbous nose, Wide nasal bri...	OMIM:615803
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Congenital hip dislocation, Depressed nasal bridge, Tapered finger, Underdeveloped nasal alae, De...	OMIM:616007
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect	OMIM:126320
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Choanal atresia, Ectopic kidney, Patent ductus arte...	OMIM:613309
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Widely spaced teeth, Gastroesophageal reflux, Micropenis, Hypospadias, Cleft soft palate, Tapered...	ORPHA:268261
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Depressed nasal bridge, Antever...	OMIM:618161
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De...	ORPHA:87
Opsismodysplasia	Recurrent respiratory infections, Short metacarpal, Rhizomelia, Anteverted nares, Depressed nasal...	OMIM:258480
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Camptodactyly of finger	ORPHA:48431
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Single transverse palmar cre...	ORPHA:521426
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Anteverted nares, Submucous cleft hard palate, Unilateral cleft lip, Unilateral...	OMIM:619122
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Micro Syndrome	Hypoplasia of penis, Anteverted nares, Wide nasal bridge, Abnormal localization of kidney, High p...	ORPHA:2510
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Clinodactyly, Intracranial hemorrhage, Short ph...	OMIM:613406
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Bronchiectasis, Long philtrum, Emphysema, Convex nasal ridge, Peripher...	OMIM:123700
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Hypochromic microcytic anemia...	ORPHA:54028
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Hallermann-Streiff Syndrome	Natal tooth, Recurrent respiratory infections, Selective tooth agenesis, Abnormality of the hand,...	OMIM:234100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Esophageal varix, Hepatocellular a...	ORPHA:264580
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta...	OMIM:119500
Developmental And Epileptic Encephalopathy 83	Hypoplasia of the fovea, Genu valgum	OMIM:618744
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal phalanges of the ...	OMIM:271665
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long philtrum, Microphthalmia	OMIM:152950
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Thick lower lip vermilion...	ORPHA:560
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Meckel diverticulum, Thick nasal alae, Dysphagia	ORPHA:163961
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Short metacarpal, Bull's eye ma...	OMIM:216550
Intellectual Developmental Disorder, X-Linked 21	Open mouth, Tented upper lip vermilion, Dental crowding, Short nose	OMIM:300143
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Preaxial polydactyly	ORPHA:163681
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Short nose, Short distal phalanx of finger	OMIM:277450
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Bardet-Biedl Syndrome 20	Papilledema, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Astigmatism, ...	OMIM:619471
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Tapered finger, Broad nasal tip, Cyst of the ductus choledochus, Patent ...	OMIM:619480
Lymphatic Malformation 5	Facial edema, Predominantly lower limb lymphedema, Cleft palate	OMIM:153200
C Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Micromeli...	ORPHA:1308
Warburg Micro Syndrome 3	Narrow palate, Micropenis, Downturned corners of mouth, Clinodactyly of the 5th finger, Microphth...	OMIM:614222
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem...	OMIM:600920
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Hip dislocation	OMIM:619059
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Momo Syndrome	Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi...	ORPHA:2563
Semilobar Holoprosencephaly	Median cleft lip, Proboscis, Hip dislocation, Depressed nasal ridge, Cleft palate, Abnormal heart...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Proboscis, Hip dislocation, Depressed nasal ridge, Cleft palate, Abnormal heart...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Proboscis, Hip dislocation, Depressed nasal ridge, Cleft palate, Abnormal heart...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Proboscis, Hip dislocation, Depressed nasal ridge, Cleft palate, Abnormal heart...	ORPHA:93924
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, Recurrent respiratory infections, Hepatomegaly, Deep philtrum, Dental m...	ORPHA:329178
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Depressed nasal bridge, Hypospadias, Bulbous nose, Dilated cardiomyopat...	OMIM:603736
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Dilatation of the ventricular cavity, Hip dislocation, Bronchiectasis,...	ORPHA:90348
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda...	OMIM:617527
Joubert Syndrome 1	Protruding tongue, Postaxial hand polydactyly, Renal cyst, Occipital myelomeningocele, Postaxial ...	OMIM:213300
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Mic...	ORPHA:42775
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Oligodontia, C...	OMIM:601701
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a...	OMIM:613795
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndactyly, Abnormality of the lymph...	ORPHA:276280
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Camptodactyly of finger, Micropenis, Rocker bottom foot	OMIM:610756
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Epiphyseal stippling, Pulmonary hypoplasia, Talipes equinovarus, Short distal p...	ORPHA:86822
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Esophageal varix, Hepatic fibrosi...	OMIM:617341
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Renal cys...	ORPHA:79303
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ureteral stenosis, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Abnormal thumb morph...	ORPHA:2719
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Metatarsus adductus...	OMIM:227330
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar...	OMIM:216900
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel diverticulum	OMIM:616395
D-Bifunctional Protein Deficiency	Hepatomegaly, Depressed nasal bridge, Splenomegaly, Split hand, Renal cyst, Cholestasis, Hammerto...	OMIM:261515
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpa...	ORPHA:192
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat...	ORPHA:2929
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrow...	ORPHA:561
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri...	OMIM:302350
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom...	ORPHA:199241
Adams-Oliver Syndrome 2	Single transverse palmar crease, Hydrocephalus, Absent distal phalanges, Short middle phalanx of ...	OMIM:614219
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Ren...	OMIM:615560
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Ventricular septal defect, Renal agenesis, Absent thumb, Absent rad...	OMIM:227645
Clapo Syndrome	Macrodactyly, Hemihypertrophy of upper limb, Varicose veins, Capillary malformation of the lip, L...	ORPHA:168984
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Thin vermilion border, High palate, Short nose, Smooth philtrum	OMIM:601853
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp...	ORPHA:131
Malan Syndrome	Coxa valga, Long fingers, Gingival overgrowth, Everted lower lip vermilion, Narrow mouth, Advance...	OMIM:614753
Hermansky-Pudlak Syndrome 6	Albinism, Ocular albinism, Absent foveal reflex, Macular hypoplasia, Hypopigmentation of the skin	OMIM:614075
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia...	OMIM:114290
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypopigmentation of the skin, Abnor...	ORPHA:1493
Aicardi Syndrome	Proximal placement of thumb, Hiatus hernia, Cleft upper lip, Spina bifida, Recurrent pneumonia, C...	OMIM:304050
Kabuki Syndrome 1	Congenital hip dislocation, High palate, Atrial septal defect, Prominent fingertip pads, Micropen...	OMIM:147920
Gapo Syndrome	Prominent scalp veins, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Retinal arteriolar...	OMIM:230740
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Microcephaly, Amish Type	Hypoplasia of the fovea, Optic atrophy	OMIM:607196
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hiatus hernia, Hypoplasia of the i...	OMIM:251300
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
X-Linked Intellectual Disability, Armfield Type	Depressed nasal bridge, Patent ductus arteriosus, Abnormality of the elbow, Small hand, Cleft pal...	ORPHA:85276
Whim Syndrome	Abnormal small intestine morphology, Lymphopenia, Severe periodontitis, Pneumonia, Respiratory tr...	ORPHA:51636
Mucopolysaccharidosis Type 2, Severe Form	Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Abnormal dental m...	ORPHA:217085
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Open bite, D...	ORPHA:1974
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormal urinary color, Renal neop...	ORPHA:538
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly, Short nose	OMIM:618087
Non-Syndromic Posterior Hypospadias	Esophageal atresia, Ventral shortening of foreskin, Cleft palate, Urethral diverticulum, Displace...	ORPHA:95706
Proteus Syndrome	Neoplasm of the thymus, Abnormal finger morphology, Abnormal lung lobation, Renal cyst, Clinodact...	ORPHA:744
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal dysplasia, Recurrent respiratory infections, Renal insufficiency, Abnormal acetabulum morph...	ORPHA:397715
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Recurrent bronchopulmonary infe...	OMIM:604173
Skin Creases, Congenital Symmetric Circumferential, 1	Long fingers, Cleft palate, High palate, Narrow mouth, Microphthalmia, Long philtrum	OMIM:156610
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Lymphangioma, Arteriovenous malformation, Upper limb asymmetry	ORPHA:137608
Monosomy 9P	Ureteropelvic junction obstruction, Anteverted nares, Depressed nasal bridge, Proximal placement ...	ORPHA:261112
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Narrow mout...	OMIM:601353
Wolfram Syndrome 1	Pigmentary retinopathy, Cataract, Optic atrophy, Limited mobility of proximal interphalangeal joint	OMIM:222300
Peho Syndrome	Recurrent respiratory infections, Anteverted nares, Tapered finger, Short nose, Gingival overgrow...	ORPHA:2836
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma,...	OMIM:191100
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Abnormal dental m...	ORPHA:217093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Slender...	OMIM:618590
Holoprosencephaly 4	Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Med...	OMIM:142946
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Anal stenosis,...	OMIM:250250
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Ventricular septal defect, Hypoplasia of teeth, Microphthalmia, Short nose	OMIM:234050
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Short nose, Renal hypoplasia, Horseshoe kidney	OMIM:266810
Proteus-Like Syndrome	Thymus hyperplasia, Anteverted nares, Open bite, Venous insufficiency, Splenomegaly, Polycystic o...	ORPHA:2969
Adnp Syndrome	Thin upper lip vermilion, Recurrent urinary tract infections, Broad hallux, Single transverse pal...	ORPHA:404448
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bridge, Short thumb, Super...	OMIM:268400
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def...	OMIM:619172
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Lysosomal Acid Lipase Deficiency	Precocious atherosclerosis, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic st...	ORPHA:275761
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Rectal prolapse, Thick ...	OMIM:303600
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Cleft...	ORPHA:1812
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Rhizomelia, Abnormality of the hand, Tapered finger, Abnormality of the...	ORPHA:319182
Menke-Hennekam Syndrome 1	Deep philtrum, Depressed nasal ridge, Cutaneous syndactyly of toes, High palate, Short philtrum, ...	OMIM:618332
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Emphysema, Intracranial hemorrhage, Papillar...	ORPHA:363618
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Hip dislocation	OMIM:613156
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Prominent nasal bridge, Pos...	ORPHA:110
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Tapered finger, Patent ductus arteriosus, Small hand, Renal hypoplasia, Hip...	OMIM:620005
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Peripheral arteriovenous fistula, Cerebral arteriovenous ...	ORPHA:90307
Frontofacionasal Dysplasia	Cleft upper lip, Underdeveloped nasal alae, Orofacial cleft, Midline defect of the nose, Bifid no...	OMIM:229400
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Cystic renal dysplasia, Postaxial foot polydactyly, Poly...	OMIM:615989
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Splenomegaly, Renal hypoplasia, Nephroblastoma, Venous malformation	OMIM:612918
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Optic atrophy, Abnormality of skin pigmentation, Coloboma, Microphthalmia	OMIM:612379
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp...	ORPHA:93929
Craniofacial-Deafness-Hand Syndrome	Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris	OMIM:122880
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Dental crowding, Anteverted nares, Depressed na...	OMIM:619005
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Conjunctival hyperemia, Coloboma	OMIM:167730
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Periodontitis, Finger joint hypermobility, Emphysema, Prematur...	OMIM:130050
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, G...	ORPHA:522077
Ayme-Gripp Syndrome	Smooth philtrum, Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Tapered finger, ...	OMIM:601088
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha...	OMIM:617914
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor...	ORPHA:2237
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Renal hypoplasia, Narrow mouth, Vesicoureteral reflux...	OMIM:613735
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Anteverted nares, Carious teeth, Narrow mouth, High palate, Long phil...	OMIM:219200
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly	ORPHA:1129
Lethal Congenital Contracture Syndrome 9	Thin upper lip vermilion, Ulnar deviation of the hand, Talipes equinovarus, Pulmonary hypoplasia,...	OMIM:616503
Dyskeratosis Congenita, Autosomal Dominant 6	Pancytopenia, Esophageal stenosis, Aplastic anemia, Abnormality of the dentition, Bone marrow hyp...	OMIM:616553
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Leukocytosis...	ORPHA:2307
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Orofaciodigital Syndrome Type 14	Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of tongue, Ventricular ...	ORPHA:434179
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, H...	OMIM:619426
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic nerve hypoplasia, Prominent nasal bridge, Abnormally large globe, Broad nasal tip, Wide nas...	OMIM:300749
Microlissencephaly-Micromelia Syndrome	Bilateral single transverse palmar creases, Micromelia, Fetal pyelectasis, Long philtrum, Short n...	ORPHA:50810
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Oligodontia, High palate, Short philtrum, Micropenis, Depressed nasal bridge, Hypospadias, Tapere...	OMIM:309590
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea...	ORPHA:805
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of finger, Protrusi...	ORPHA:284984
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Capillary malformation of the lip, Macrodactyly, Venous malformation	OMIM:613089
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Esophageal stricture, Palmoplantar keratoderma, Hypodontia, Dysphagia,...	OMIM:616029
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis...	ORPHA:157
Warburg Micro Syndrome 4	Microphthalmia, Long philtrum, Micropenis, Narrow mouth	OMIM:615663
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Gastr...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Gastr...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Gastr...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Gastr...	ORPHA:881
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Micropenis, Short nose, Clinodactyly of the 4th toe, Cli...	OMIM:614225
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Lymphadenitis, Sterile pyur...	ORPHA:449395
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Ocular albinism, Albinism	OMIM:614073
Faciocardiomelic Syndrome	Anteverted nares, Depressed nasal bridge, Dental malocclusion, Wide mouth, Slender long bone, Pol...	OMIM:612731
Caroli Disease	Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Thin upper lip vermilion, Sandal gap, Ventricular septal defect, Optic nerve hypoplasia, Broad na...	OMIM:620330
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Narrow mouth	OMIM:614833
Familial Multiple Nevi Flammei	Venous insufficiency, Arteriovenous malformation, Abnormality of the upper limb, Intracranial hem...	ORPHA:624
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Gingival fibromatosis, Renal cyst, Cardiac rha...	OMIM:613254
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Carious teeth, Esophageal stricture, Palmoplantar hyperkeratosis, ...	OMIM:224230
Hallermann-Streiff Syndrome	Natal tooth, Tracheomalacia, Abnormality of the dentition, High, narrow palate, Supernumerary too...	ORPHA:2108
Lethal Congenital Contracture Syndrome 1	Pulmonary hypoplasia	OMIM:253310
Melnick-Needles Syndrome	Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses of the phalanges of the hand, Short clavi...	OMIM:309350
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Recurrent urinary tract infections, Dental crowding, Anteverted nares, Depresse...	OMIM:617157
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Atrial septal defect...	OMIM:304120
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Hypospadias, Single transverse palmar crease, Carious teet...	OMIM:223370
Kindler Epidermolysis Bullosa	Urethral stricture, Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Shor...	ORPHA:2908
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Ocula...	OMIM:614077
Braddock Syndrome	Preaxial hand polydactyly, Pulmonary fibrosis, Unilateral renal agenesis	ORPHA:52047
Epidermal Nevus Syndrome	Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hydrocephalus, Split hand, Umbilical hernia	OMIM:309900
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Recurrent respiratory infections, Broad ha...	OMIM:620186
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abno...	ORPHA:36426
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Cockayne Syndrome Type 3	Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Carious teeth, S...	ORPHA:90324
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus	OMIM:601794
Prolidase Deficiency	Abnormality of retinal pigmentation, Arachnodactyly, Genu valgum, White forelock, Palmoplantar ke...	ORPHA:742
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Hypospadias, Tapered finger, Microdontia, Long fingers, Narrow mouth, C...	OMIM:616734
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H...	OMIM:618748
Menkes Disease	Gastrointestinal hemorrhage, Bowing of the long bones, Tarsal synostosis, Malabsorption, Venous i...	ORPHA:565
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters	OMIM:619817
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Short philtrum, High...	OMIM:619475
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia	ORPHA:1203
Gabriele-De Vries Syndrome	Hallux valgus, Abnormality of upper lip vermillion, Sydney crease, Sandal gap, Abnormality of the...	ORPHA:506358
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Coffin-Siris Syndrome 12	High palate, Gastroesophageal reflux, Patent foramen ovale, Anteverted nares, Depressed nasal bri...	OMIM:619325
Gjc2-Related Late-Onset Primary Lymphedema	Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ...	ORPHA:568051
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy...	OMIM:163950
Deeah Syndrome	Prominent nasal tip, Decreased hemoglobin concentration, Hepatomegaly, Malabsorption, Exocrine pa...	OMIM:619004
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:743
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Clinodactyly of the 5th finger, Mi...	ORPHA:2399
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Gastrointestinal inflammation, Iron deficiency anemia, Gastroesophageal reflu...	ORPHA:79408
Mucopolysaccharidosis Type 2	Hepatomegaly, Wide nose, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Sp...	ORPHA:580
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Benign Schwannoma	Intestinal polyposis, Nasal polyposis, Abnormal fibula morphology, Abnormality of the liver, Abno...	ORPHA:252164
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Leukocytosis, Renal hypoplasia...	OMIM:619321
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Aganglionic megacolon, Anteverted nares, Hypospadias, Epispadias, Abno...	ORPHA:3339
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst	OMIM:617100
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Nephrocalcinosis, Cholelit...	OMIM:240300
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Rajab Interstitial Lung Disease With Brain Calcifications 1	Recurrent urinary tract infections, Pancytopenia, Intestinal malrotation, Portal hypertension, Es...	OMIM:613658
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar...	ORPHA:2396
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios	OMIM:615824
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum	OMIM:103050
Mosaic Trisomy 20	Ventricular septal defect, Down-sloping shoulders, Abnormality of the kidney, Cleft lip, Dysplast...	ORPHA:1724
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Pulmonary hypoplasia, Hydronephrosis, Anal atresia	OMIM:271520
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:464
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes...	OMIM:187300
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper...	OMIM:216340
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a...	ORPHA:1329
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
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Choanal stenosi...	OMIM:218600
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Hy...	ORPHA:636
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia	ORPHA:2714
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Iris transillumination defect, Ocular albinism, Albinism	OMIM:614074
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Xeroderma Pigmentosum, Complementation Group B	Cataract, Freckling, Optic atrophy, Pigmentary retinopathy, Microphthalmia	OMIM:610651
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, A...	ORPHA:227990
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Finger syndactyly, Melanocytic nevus, Multiple cafe-au-lait ...	ORPHA:1969
Telangiectasia, Hereditary Hemorrhagic, Type 4	Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebral arteriovenous malformation,...	OMIM:610655
Atypical Werner Syndrome	Abnormal cerebral vascular morphology, Finger clinodactyly, Premature arteriosclerosis, Short pal...	ORPHA:79474
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Portal hypertension, Jaundice, Esophageal varix, Cholestasis, Sclerosing cholangiti...	OMIM:619662
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Campomelia, Cumming Type	Bowing of the long bones, Polycystic liver disease, Pancreatic cysts, Polysplenia, Polycystic kid...	OMIM:211890
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Urethrovesical occlusion, ...	OMIM:226730
Dend Syndrome	Anteverted nares, Elevated hemoglobin A1c, Downturned corners of mouth, Long philtrum, Clinodacty...	ORPHA:79134
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Anteverted nares, Optic nerve hypoplasia, Depressed nasal bridge, Broad nasal tip, Hypospadias, T...	ORPHA:495875
Wilson Disease	Aminoaciduria, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Atypical or prolonged hepatitis...	OMIM:277900
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Jaundice, Macroglossia, Concave nasal ridge, Prolonged ...	OMIM:613038
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Orofacial...	ORPHA:60030
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, A...	ORPHA:227982
Rodrigues Blindness	Microphthalmia, Tooth malposition	OMIM:268320
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Esophageal var...	ORPHA:309854
Mandibuloacral Dysplasia With Type B Lipodystrophy	Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Osteolytic defects of t...	ORPHA:90154
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Delayed eruption of primary ...	OMIM:300952
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Nephrolithiasis, Desmoid tumors, Mitral ...	ORPHA:137605
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Broad hallux, Arachnodactyly, Cubitus valgus, Dental malocclusion, High palate, Short finger, Mic...	OMIM:601552
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Cataract	ORPHA:79095
Jaberi-Elahi Syndrome	Depressed nasal bridge, Talipes equinovarus, Hand clenching, Triangular mouth, Short nose	OMIM:617988
Lymphatic Malformation 6	Splenomegaly, Varicose veins, Pleural effusion, Gastroesophageal reflux, Chylothorax, Atrial sept...	OMIM:616843
Dpagt1-Cdg	Arachnodactyly, Stroke-like episode, Intracranial hemorrhage, Pulmonary hypoplasia, Camptodactyly...	ORPHA:86309
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia, Abnormality of the pulmonary artery	ORPHA:1065
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Membranoproliferativ...	OMIM:619525
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Esophageal stenosis, Colitis, Bone marrow hypocellularity	OMIM:615190
Holoprosencephaly 2	Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cleft lip and palate, Semilobar ...	OMIM:157170
Hughes-Stovin Syndrome	Pulmonary artery aneurysm, Vasculitis, Arterial stenosis	ORPHA:228116
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Microphthalmia, Triangular mouth, Short nose	OMIM:601675
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Choanal Atresia	Tracheomalacia, Recurrent respiratory infections, Polydactyly, Nasal congestion	ORPHA:137914
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Depressed nasal bridge, Renal cyst, Hepatomegaly	OMIM:614862
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Depressed nasal bridge, Hypospadias, Urolithiasis, Hyperuricosuria, Wide mou...	OMIM:300661
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cerebral arteriovenous malformation, Tongue telangiectasia, Gastrointestinal arteriovenous malfor...	OMIM:600376
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri...	OMIM:252150
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Esophageal stenosis, Prominent nose, Downturned corners of mouth, Short philtrum, Dysphagia, Acha...	OMIM:615510
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Wide nasal bridge, Renal cyst, Epiphyseal stippling, Hepatic fibrosi...	OMIM:601539
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto...	OMIM:620133
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As...	ORPHA:402075
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P...	ORPHA:93111
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture, Abnormality of the elbow, Palmoplantar hyperkeratosis	ORPHA:158673
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Recurrent respiratory infections, Abnormality of the dentition	ORPHA:1806
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, Micr...	OMIM:603457
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Esophageal varix, Biliary cirrhosis, Increased level of L-fucos...	OMIM:215600
Milroy Disease	Varicose veins, Abnormal venous morphology	ORPHA:79452
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Hypospadias, Optic nerve hypoplasia, Camptodactyly of finger, Unilateral r...	ORPHA:468631
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Long philtrum	OMIM:615145
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Ma...	OMIM:214500
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Aspartylglucosaminuria	Recurrent respiratory infections, Hepatomegaly, Aspartylglucosaminuria, Abnormal morphology of ul...	ORPHA:93
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Scapular winging	OMIM:600462
Axial Osteomalacia	Renal cyst	OMIM:109130
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Polycythe...	ORPHA:116
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Phimosis, Carious teeth, Urethral stenosis, Palmoplantar hype...	OMIM:173650
Usher Syndrome	Abnormality of retinal pigmentation, Astigmatism, Cataract	ORPHA:886
Hypermobile Ehlers-Danlos Syndrome	Arterial dissection, Abnormality of the dentition, Elbow dislocation, Malabsorption, Abnormality ...	ORPHA:285
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Treacher Collins Syndrome 1	Cleft soft palate, Bilateral microphthalmos, Cleft palate, Abnormal heart morphology, Wide mouth,...	OMIM:154500
Cockayne Syndrome	Urinary incontinence, Retinal arteriolar constriction, Gastroesophageal reflux, Abnormal dental m...	ORPHA:191
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity, Abnormal toe morphology, Abnormal finger morphology, Coloboma, Hypopigmentation ...	OMIM:163200
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Neurodegeneration With Brain Iron Accumulation 2A	Short nose	OMIM:256600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of retinal pigmentation, Proximal muscle weakness in upper limbs, Cataract, Flexion c...	ORPHA:466768
Cockayne Syndrome B	Optic atrophy, Ivory epiphyses of the phalanges of the hand, Developmental cataract, Hypoplasia o...	OMIM:133540
Progeroid Short Stature With Pigmented Nevi	Irregular dentition, Bicuspid aortic valve, Allergic rhinitis, Hypospadias, Chordee, Aortic valve...	OMIM:176690
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilateral talipes...	OMIM:600145
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Unilateral renal agenesis, Rena...	OMIM:308205
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine...	OMIM:252160
Chronic Graft Versus Host Disease	Pancytopenia, Phimosis, Urinary bladder inflammation, Esophageal stricture, Pneumothorax, Xerosto...	ORPHA:99921
Cockayne Syndrome A	Hip contracture, Retinal atrophy, Cataract, Retinal pigment epithelial mottling, Optic atrophy, I...	OMIM:216400
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy, Subcapsular cataract, Abnormality of the hand	OMIM:203800
Mody	Abnormality of the kidney, Elevated hemoglobin A1c, Hepatocellular adenoma, Renal cyst, Glycosuri...	ORPHA:552
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulcer, Nephrolithiasis, R...	ORPHA:99880
Phakomatosis Pigmentokeratotica	Hemiatrophy, Coloboma, Spina bifida, Melanocytic nevus	ORPHA:2874
Foix-Alajouanine Syndrome	Neurogenic bladder, Urinary incontinence, Functional abnormality of the bladder, Urinary retentio...	ORPHA:79093
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Op...	ORPHA:581
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulcer, Nephrolithiasis, R...	ORPHA:143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Adducted thumb	OMIM:614643
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short nose	OMIM:615851
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Hypospadias, Ileal atresia, Micropenis, C...	OMIM:618820
Lipodystrophy, Familial Partial, Type 7	Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation, Narrow nasal ridge, Nar...	OMIM:606721
Joubert Syndrome 5	Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re...	OMIM:610188
Livedoid Vasculopathy	Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ...	ORPHA:542643
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Retinal vascular proliferation, Keratitis,...	OMIM:308300
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Fractures of the long bones, Optic atrophy, Pigmentary retinopathy, Retin...	ORPHA:157850
Trichothiodystrophy	Ventricular septal defect, Carious teeth, High, narrow palate, Recurrent bronchopulmonary infecti...	ORPHA:33364
Familial Multiple Lipomatosis	Chorioretinitis, Bowing of the long bones, Coloboma	ORPHA:199276
Unilateral Polymicrogyria	Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Pseudobulbar paralysi...	ORPHA:268943
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux	OMIM:120200
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Wrist flexion contracture, Talipes equinovarus, Retinal pigment epithelial...	OMIM:618733
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Micromelia, Microcornea, Deep palmar crease, Astigmatism, Macular hypoplasia	ORPHA:1675
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormali...	ORPHA:1677
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ho...	ORPHA:1587
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Conical too...	OMIM:305100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Congenital hip dislocation, Coxa valga, Optic atrophy...	ORPHA:404454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Hydrocephalus	OMIM:616538
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Retina...	ORPHA:790
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pi...	ORPHA:79282
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Clubbing,...	ORPHA:97214
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Carious teeth, Thrombocytopenia, Eso...	OMIM:305000
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Wrist swelling, Hip dislocation,...	OMIM:309000
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Renal cell carci...	OMIM:193300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ...	OMIM:269200
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Renal cortical cysts	OMIM:609180
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Mpdu1-Cdg	Thin vermilion border, Renal cortical cysts	ORPHA:79323
Beckwith-Wiedemann Syndrome	Cardiomegaly, Vesicoureteral reflux, Renal cortical cysts, Nephrolithiasis, Nephrocalcinosis, Mac...	OMIM:130650
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Equinus calcaneus	ORPHA:746
Cadds	Short nose	ORPHA:369942
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Abetalipoproteinemia	Abnormality of retinal pigmentation, Keratoconjunctivitis sicca, Corneal ulceration, Talipes equi...	ORPHA:14
Peroxisome Biogenesis Disorder 4B	Short nose, Single transverse palmar crease, Ureterocele	OMIM:614863
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia	OMIM:259770
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Renal cortical cysts, Downturned cor...	OMIM:618548
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Immunodeficiency 96	Recurrent lower respiratory tract infections, Multicystic kidney dysplasia	OMIM:619774
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Hydrocephalus	OMIM:277400
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Pmm2-Cdg	Thin upper lip vermilion, Pericarditis, Anteverted nares, Prominent nasal bridge, Proteinuria, Pr...	ORPHA:79318
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:220110
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Anterio...	ORPHA:91500
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Barrett Esophagus	Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus, Esophageal ulceration	OMIM:614266
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Scapular winging, Cataract	OMIM:607459
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl...	ORPHA:167
Alström Syndrome	Abnormality of dental color, Urinary incontinence, Functional abnormality of the bladder, Gingivi...	ORPHA:64
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Cystinosis, Nephropathic	Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Meta...	OMIM:219800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus...	OMIM:615287
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Holoprosencephaly, Abnormal digit mor...	ORPHA:95494
Melas	Pigmentary retinopathy, Optic atrophy, Vitiligo	ORPHA:550
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Cataract, Optic disc hypoplasia, Corneal opacity, Camptodactyly of finge...	ORPHA:3455
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b...	OMIM:127000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
1P21.3 Microdeletion Syndrome	Short nose, Broad nasal tip	ORPHA:293948
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal...	OMIM:175780
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Hyperpigmentation of the skin	OMIM:234200
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061

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 Tbc1d32

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 Tbc1d32.

No publications found that use IMPC mice or data for Tbc1d32.

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MGI Allele	Allele Type	Produced
Tbc1d32^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tbc1d32 MGI:2442827

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E18.5

X-ray

X-ray

Electroretinography 3

X-ray

X-ray

Gross Morphology Embryo E18.5

Combined SHIRPA and Dysmorphology

Eye Morphology

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Tbc1d32 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data