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Gene: Cdk20 MGI:2145349

Gene Summary

Name:

cyclin dependent kinase 20

Synonyms:

Ccrk, 4932702G04Rik

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	P Value
preweaning lethality, complete penetrance	Cdk20^em1(IMPC)Bay	HOM	Early adult	0.00
abnormal body wall morphology	Cdk20^em1(IMPC)Bay	HOM	E18.5	0.00
abnormal facial morphology	Cdk20^em1(IMPC)Bay	HOM	E18.5	0.00
polydactyly	Cdk20^em1(IMPC)Bay	HOM	E18.5	0.00
cleft palate	Cdk20^em1(IMPC)Bay	HOM	E18.5	0.00
prolonged PR interval	Cdk20^em1(IMPC)Bay	HET	Early adult	2.02×10^-38
facial cleft	Cdk20^em1(IMPC)Bay	HOM	E18.5	0.00
anophthalmia	Cdk20^em1(IMPC)Bay	HOM	E18.5	0.00
abnormal embryo size	Cdk20^em1(IMPC)Bay	HOM	E18.5	0.00

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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.

Eye Morphology

VIP of left eye

29 Images

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Eye Morphology

VIP of left fundus

29 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

VIP of right eye

29 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

VIP of right fundus

29 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Human diseases caused by Cdk20 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 Cdk20 (0 diseases)
Human diseases predicted to be associated with Cdk20 (1059 diseases)

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

The table below shows human diseases predicted to be associated to Cdk20 by phenotypic similarity.

Disease	Matching phenotypes	Source
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft upper lip, Cleft palate, Deep palmar crease, Microphthalmia	OMIM:600251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Fryns Microphthalmia Syndrome	Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia	OMIM:600776
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Retinal dysplasia	OMIM:615041
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft li...	ORPHA:1104
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Acrofacial Dysostosis, Weyers Type	Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Facial cleft...	ORPHA:952
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali...	ORPHA:1794
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss...	ORPHA:3104
Joubert Syndrome 15	Retinopathy, Retinal dystrophy, Preaxial polydactyly, Exencephaly	OMIM:614464
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Facial cl...	OMIM:601357
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Syngnathia	Cleft palate	OMIM:119550
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
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
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal...	ORPHA:1040
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Cerebrooculonasal Syndrome	Anophthalmia, Postaxial hand polydactyly, Facial cleft, High palate, Widely spaced teeth, Solitar...	ORPHA:66625
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Anencephaly 2	Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate	OMIM:619452
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft	OMIM:611638
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Facial cleft, Small thenar eminence, Short 5th...	OMIM:239800
Frontonasal Dysplasia 3	Microphthalmia, Facial cleft, Cleft palate	OMIM:613456
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Inguinal hernia, Abnormality of the dentition, Carious teeth, S...	ORPHA:1786
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f...	ORPHA:1837
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Prolonged PR interval	OMIM:108900
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia...	OMIM:206920
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Diprosopus	Abnormality of retinal pigmentation, Non-midline cleft lip, Anencephaly, Cleft palate	ORPHA:1681
Constricting Bands, Congenital	Omphalocele, Syndactyly, Encephalocele, Cleft upper lip, Facial cleft, Cleft palate, Hand polydac...	OMIM:217100
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Polydactyly, Attenuation of retinal ...	OMIM:615990
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Hydrolethalus Syndrome 2	Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly,...	OMIM:614120
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Cleft palate, Polydactyly,...	OMIM:613885
Acrorenal Syndrome	Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla...	ORPHA:971
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Acalvaria	Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Holoprosencephaly	ORPHA:945
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T...	OMIM:211960
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma...	ORPHA:1275
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Hydrocephalus...	ORPHA:380
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate	OMIM:172880
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,...	ORPHA:2756
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Micromelia, Postaxial polydactyl...	OMIM:617866
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus	OMIM:210350
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Spina bifida, Chorioretinal degeneration	OMIM:311000
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate	OMIM:615524
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Cleft palate, Microphthalmia	OMIM:164180
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Cryptorchidism, Preaxial hand polydactyly, Orofacial cleft, Large hands, Decreas...	ORPHA:85287
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Chorioretinal...	ORPHA:3265
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Encephalocele, Synostosis...	ORPHA:90652
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Macular dystrophy, Rod-cone dystrophy, Brachydactyly	OMIM:615983
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Eem Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Abnormal dental morphology, Selective too...	ORPHA:1897
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro...	ORPHA:2633
Hydrolethalus	Anophthalmia, Micromelia, Postaxial hand polydactyly, Submucous cleft hard palate, Anencephaly, G...	ORPHA:2189
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Holoprosencepha...	OMIM:612651
Bardet-Biedl Syndrome 11	Retinopathy, Polydactyly	OMIM:615988
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Frontofacionasal Dysplasia	Encephalocele, Non-midline cleft lip, Facial cleft, Cleft palate, Microphthalmia	ORPHA:1791
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper lim...	OMIM:607323
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe...	OMIM:613091
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal testis morphology, High palate, Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2233
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Cryptorchidism, Polydactyly, Rod-cone dystrophy, Retina...	OMIM:615982
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micromelia, Aplastic clavicle, Postaxial polydactyly, Accessory oral frenulum, Hydrocephalus, Ham...	OMIM:616546
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,...	OMIM:310300
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit...	ORPHA:2378
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Schisis Association	Encephalocele, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, Cleft palate, Un...	ORPHA:63862
Bardet-Biedl Syndrome 14	Rod-cone dystrophy, Polydactyly	OMIM:615991
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly	OMIM:615984
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Natal tooth, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Cleft lip, Cr...	OMIM:616300
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Abnormality of t...	ORPHA:1307
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le...	OMIM:249710
Mohr Syndrome	Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ...	OMIM:252100
Isolated Dandy-Walker Malformation	Encephalocele, Cleft palate	ORPHA:217
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Congenital Vertical Talus	Myelomeningocele, Rocker bottom foot, Equinus calcaneus	ORPHA:178382
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Supernumerary Nostril	Facial cleft	ORPHA:141096
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Postaxial foot ...	OMIM:607361
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Hydrocephalus,...	OMIM:175700
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Joubert Syndrome 16	Encephalocele, Retinal dystrophy, Polydactyly	OMIM:614465
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Lip pit, Tapered finger, Facial cleft, Hypodontia, Microphthalmia, Broad...	ORPHA:1236
Bardet-Biedl Syndrome 10	Rod-cone dystrophy, Retinal dystrophy, Polydactyly	OMIM:615987
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft...	OMIM:603671
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Non-midline cleft lip, Retinopathy	ORPHA:1995
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Acrodysostosis	Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r...	ORPHA:950
Trisomy 13	Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Postaxial hand...	ORPHA:3378
2q33.1 deletion syndrome	Inguinal hernia, High palate, Cleft palate	DECIPHER:51
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Cleft p...	OMIM:614815
3Mc Syndrome 3	Cleft upper lip, Preaxial polydactyly, Facial cleft, Cleft palate, Radioulnar synostosis, Clinoda...	OMIM:248340
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Narrow femoral neck, Congenital hip dislocation, Delayed phalangeal epiphyseal ossification, Long...	OMIM:603546
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:614500
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Intestinal malrotatio...	ORPHA:99776
Microcephaly-Cardiomyopathy Syndrome	Clinodactyly of the 5th finger, High, narrow palate, Sandal gap, Abnormality of retinal pigmentation	ORPHA:2515
Parietal Foramina 1	Encephalocele, Cleft palate, Cleft upper lip	OMIM:168500
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral...	ORPHA:93307
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod...	OMIM:602418
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Preaxi...	ORPHA:65759
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ...	ORPHA:1106
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia	OMIM:300484
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ...	OMIM:611134
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Abn...	ORPHA:1278
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, High pa...	ORPHA:139471
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, High...	OMIM:618142
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Preaxial hand polydactyly, Thin upper lip vermilion, Interphalangeal joint contracture of finger,...	OMIM:606242
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Blepharocheilodontic Syndrome 1	Conical tooth, Cleft upper lip, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl...	OMIM:119580
Bartsocas-Papas Syndrome 1	Hypoplastic iliac wing, Short phalanx of finger, Syndactyly, Short metacarpal, Cleft upper lip, S...	OMIM:263650
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate...	OMIM:258860
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Enlarged Parietal Foramina	Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Broad thumb	ORPHA:60015
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh...	ORPHA:2839
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Brachydactyly, Toe syndactyly, Scapular winging, Camptodactyly of finger, Spina bi...	ORPHA:1327
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Trisomy 4P	Smooth philtrum, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Preaxial h...	ORPHA:1738
Jeune Syndrome	Abnormality of retinal pigmentation, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Post...	ORPHA:474
Isolated Hemihyperplasia	Myelomeningocele, Abnormality of the dentition	ORPHA:2128
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Cleft palate, Split foot	OMIM:183700
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly, Retinal coloboma, Chorioretinal coloboma	ORPHA:2921
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma...	OMIM:277170
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Diaphanospondylodysostosis	Narrow pelvis bone, Myelomeningocele, Cleft palate	ORPHA:66637
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Down-sloping shoulders, Carious teeth, Abnormal retinal vasc...	ORPHA:1390
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis morpholo...	ORPHA:177910
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Bilateral cryptorchidism, Central Y-shape...	ORPHA:2754
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Shor...	ORPHA:411986
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the hand, Abnormality of the dentition, Super...	ORPHA:1264
Hartsfield Syndrome	Encephalocele, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/...	ORPHA:2117
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Retinal pigmen...	OMIM:617102
Mycophenolate Mofetil Embryopathy	Tracheoesophageal fistula, Orofacial cleft, Facial cleft, Foot polydactyly, Short palm, Microphth...	ORPHA:268249
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Cleft palate, Hy...	ORPHA:506353
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ...	ORPHA:3098
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Unilateral Ocular Duplication	Encephalocele, Midline facial cleft, Median cleft lip, Cleft palate	ORPHA:3374
Joubert Syndrome 17	Preaxial polydactyly, Abnormal retinal morphology, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Thin vermilio...	ORPHA:2631
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Retinal detachment, Broad hallux, Limited elbow extension, Short metatars...	ORPHA:1856
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Men...	ORPHA:1908
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Madelung deformity, Short femora...	OMIM:249700
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Orofaciodigital Syndrome Xi	Cleft palate, Postaxial polydactyly	OMIM:612913
Trisomy 1Q	Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Preaxial hand...	ORPHA:261344
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ...	ORPHA:861
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Meningocele, Camptodactyly of finger, Duodenal stenosis	ORPHA:1759
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft lip, Meningocele, Hip dislocation, Bilateral cleft lip and palate, Tooth agenesis	ORPHA:2003
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Facial cleft, Cleft palate, Finger clinodactyly, Pectoral muscle hypopla...	ORPHA:306542
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Widely-spaced maxillary central incisors, Partial duplication of the pr...	ORPHA:363417
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Cone-shaped epiphyses of the phalanges ...	OMIM:617781
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor...	ORPHA:321
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab...	ORPHA:2879
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Hammertoe	OMIM:619090
2Q31.1 Microdeletion Syndrome	Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, Clinodactyly o...	ORPHA:251014
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Hydrocephalus, Preaxial polydact...	OMIM:243605
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Hydrocephalus, Postaxial h...	OMIM:241800
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Cleft palate, Short distal phalanx of finger	OMIM:601355
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Postax...	OMIM:615986
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Thick l...	ORPHA:3219
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block	ORPHA:85447
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f...	OMIM:601349
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Solitary Median Maxillary Central Incisor	Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median m...	OMIM:147250
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, S...	OMIM:201000
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Macular coloboma, Coxa valga, Cleft palate, Contracture of the distal interphalang...	OMIM:216800
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:2091
Isolated Klippel-Feil Syndrome	Spina bifida, Cleft palate, Abnormal shoulder morphology, Ectopic anus, Anal atresia	ORPHA:2345
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio...	OMIM:617926
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc...	OMIM:181350
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Cryptorchidi...	OMIM:600325
Sirenomelia	Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia	ORPHA:3169
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Lip pit, Intestinal m...	OMIM:601707
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus, Optic atrophy, Epiphyseal stippling, Macroglossia, Short distal ...	ORPHA:1914
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polyda...	OMIM:605627
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog...	ORPHA:2878
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, L...	ORPHA:2211
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Cryptorchidism, Abnormal fibula morphology, Coxa vara, Oro...	ORPHA:1988
Joubert Syndrome 7	Encephalocele, Retinal dystrophy, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum	OMIM:611560
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Proximal placement of thumb, Spina bifida, Abnormal t...	ORPHA:1120
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine...	OMIM:200990
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastria, Aplastic clavicle, Hiatus her...	ORPHA:2538
Trisomy 8Q	Camptodactyly of finger, Cryptorchidism, Myelomeningocele, Non-midline cleft lip, Orofacial cleft...	ORPHA:1752
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Natal tooth, Broad hallux, Retinitis, Hamartoma of tongue, Cleft lip, Po...	OMIM:615948
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Cryptorchidism, Meningocele, Patellar hypoplasia, Wide mouth, Ta...	ORPHA:1827
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Polydactyly, Retinal degeneration	OMIM:615993
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha...	OMIM:177170
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Waardenburg Syndrome Type 1	Hypopigmentation of hair, Tented upper lip vermilion, Aganglionic megacolon, White eyelashes, Spi...	ORPHA:894
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gi...	ORPHA:1788
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hydrocephalus, Polydactyly, Smooth philtrum	OMIM:602501
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cleft palate, Hand polydactyly, Ab...	ORPHA:2167
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Distal Monosomy 7Q36	Cryptorchidism, Non-midline cleft lip, Optic atrophy, Cleft palate, Symphalangism affecting the p...	ORPHA:1636
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum...	OMIM:614091
Triploidy	Finger syndactyly, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Meningocele, Non-midlin...	ORPHA:3376
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia	ORPHA:63260
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Pelger-Huet Anomaly	Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd...	OMIM:169400
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio...	OMIM:615994
Joubert Syndrome 10	Deep philtrum, Rod-cone dystrophy, Thick vermilion border, Postaxial polydactyly	OMIM:300804
Lambotte Syndrome	Preaxial foot polydactyly, Narrow mouth, Semilobar holoprosencephaly	OMIM:245552
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:397951
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Everted lower lip vermilion, Camptodactyly of...	ORPHA:1466
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Abnormality of the dentition, Abnormal thumb morphology, Abnormal to...	ORPHA:94065
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Anophthalmia...	OMIM:219000
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Coxa valga, Holoprosencephaly, Clinodactyly of the 5th finge...	ORPHA:2163
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Cryptorchidism, Radioulnar synostos...	OMIM:194350
Vater/Vacterl Association	Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Esophageal atresia...	OMIM:192350
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Rod-cone dystrophy, Macular hypopigmentation, Polydactyly	OMIM:617119
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Hydrocephalus, Cleft palate, Halberd-shaped pelvis, Clinodac...	ORPHA:2635
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Arachnodactyly, Decreased palmar creases, Limited wrist exte...	OMIM:108145
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Morning glory anomaly, Hydrocep...	OMIM:614424
Marshall Syndrome	Clinodactyly of the 5th finger, Small proximal tibial epiphyses, Thick upper lip vermilion, Bifid...	OMIM:154780
Atelosteogenesis, Type I	Short metatarsal, Tibial bowing, Encephalocele, Short metacarpal, Radial bowing, Club-shaped prox...	OMIM:108720
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Cleft upper lip, Triceps aplasia, Patella...	OMIM:161200
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Wildervanck Syndrome	Meningocele, Pseudopapilledema	ORPHA:3456
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ...	OMIM:147891
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Umbilical hernia, Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Alg3-Cdg	Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Neural tube defect, Macroglossia, Hi...	ORPHA:79321
Juvenile Paget Disease	Abnormality of retinal pigmentation, Bowing of the long bones, Abnormality of the dentition, Opti...	ORPHA:2801
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
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
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr...	ORPHA:358
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Triangular mouth, Flattened epiphysis, Gen...	OMIM:607131
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Inguinal hernia, Anophthalmia, Camptodactyly of finger, High, narrow palate, Ulnar deviation of f...	ORPHA:1101
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu...	ORPHA:1972
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Hydrocephalus, Metaphyseal...	OMIM:224400
Orofaciodigital Syndrome Type 2	Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity, Finger clinod...	ORPHA:2751
Retinitis Pigmentosa 6	Immotile cilia, Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, D...	OMIM:616108
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate	OMIM:610125
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Cockayne Syndrome Type 2	Anophthalmia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely spaced p...	ORPHA:90322
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin...	ORPHA:435638
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Poland Syndrome	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A...	ORPHA:2911
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Failure...	ORPHA:2250
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate, Holoprosence...	ORPHA:2165
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Dysspondyloenchondromatosis	Abnormal ulnar metaphysis morphology, Metaphyseal enchondromatosis, Abnormal fibula morphology, G...	ORPHA:85198
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly	OMIM:619981
Nephronophthisis 15	Polydactyly, Retinal degeneration	OMIM:614845
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy, Polydactyly, Abnormality of the hand	OMIM:245800
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, Postaxial polydactyly, Brachydactyly	OMIM:600151
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft palate, Genu ...	OMIM:614078
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Walker-Warburg Syndrome	Anophthalmia, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Microphthalmia, Bifid...	ORPHA:899
Heart Block, Congenital	Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria...	OMIM:234700
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Macular degeneration, Polydactyly, Rod-cone dystrophy, A...	OMIM:613464
Caudal Duplication	Cryptorchidism, Myelomeningocele, Intestinal duplication, Spina bifida	ORPHA:1756
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyly, Small placenta, Ectrodac...	ORPHA:397590
Kearns-Sayre Syndrome	Third degree atrioventricular block	ORPHA:480
Fanconi Anemia	Abnormal femur morphology, Abnormality of skin pigmentation, High palate, Triphalangeal thumb, Cl...	ORPHA:84
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalu...	ORPHA:59315
Oliver-Mcfarlane Syndrome	Cryptorchidism, Central heterochromia, Pigmentary retinopathy, Retinal degeneration	OMIM:275400
Senior-Loken Syndrome	Cone-shaped epiphysis, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Congenital Myopathy 24	Cardiomyopathy, First degree atrioventricular block	OMIM:617336
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Anteriorly place...	OMIM:305600
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Aase-Smith Syndrome I	Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Cohen Syndrome	High, narrow palate, Abnormality of skin pigmentation, Short philtrum, Clinodactyly of the 5th fi...	ORPHA:193
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra...	OMIM:210720
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Cryptorchidism, Pigmentary retinopathy, Retinal degeneration, Abnormality of the dentition	ORPHA:3363
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Ulnar deviation of ...	ORPHA:2876
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon	OMIM:235750
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Suleiman-El-Hattab Syndrome	Thin upper lip vermilion, Inguinal hernia, Single transverse palmar crease, Thick lower lip vermi...	OMIM:618950
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Inguinal hernia, Cleft palate, Tooth agenesis, High palate, Microphthalmia	ORPHA:1135
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Septooptic Dysplasia	Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger	OMIM:182230
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ...	OMIM:615761
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s...	ORPHA:404440
Pai Syndrome	Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula	ORPHA:1993
Frontonasal Dysplasia 2	Encephalocele, Tessier number 13 facial cleft, Conical tooth, Widely spaced teeth, Microphthalmia...	OMIM:613451
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact...	OMIM:614976
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Multiple Sulfatase Deficiency	Broad hallux phalanx, Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy, Broad th...	ORPHA:585
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Cleft palate, High palate	OMIM:616038
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Clinodactyly, Hypoplastic pubic bone,...	OMIM:184250
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:858
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial...	ORPHA:1553
Holoprosencephaly 11	Cleft lip, Holoprosencephaly, Cleft palate	OMIM:614226
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bifida, Tapered f...	OMIM:613776
Trisomy 18	Abnormality of retinal pigmentation, Camptodactyly of finger, Spina bifida, Esophageal atresia, P...	ORPHA:3380
Lowry-Wood Syndrome	Squared iliac bones, Hip dislocation, Limited elbow extension, Elbow flexion contracture, Irregul...	OMIM:226960
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Cleft upper lip, Hydr...	OMIM:612582
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Manitoba Oculotrichoanal Syndrome	Omphalocele, Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia	OMIM:248450
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polyda...	OMIM:615996
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Hydrocephalus, Ulnar b...	OMIM:100800
Danon Disease	Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac...	OMIM:300257
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ...	OMIM:165590
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Rhizomelia, Gingival overgro...	ORPHA:175
Lowry-Wood Syndrome	Epiphyseal dysplasia, Abnormality of retinal pigmentation, Elbow dislocation, Coxa vara, Irregula...	ORPHA:1824
Coffin-Lowry Syndrome	High palate, Widely spaced teeth, Advanced eruption of teeth, Short metacarpal, Pseudoepiphyses o...	ORPHA:192
Martsolf Syndrome 1	Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger...	OMIM:212720
Isolated Arrhinia	Microphthalmia, Facial cleft	ORPHA:1134
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Postaxial hand polydactyly, Agenesis of in...	OMIM:610829
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,...	OMIM:141400
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, De...	OMIM:616362
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Kniest Dysplasia	Hip contracture, Retinal detachment, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal os...	OMIM:156550
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Micromelia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossific...	ORPHA:93271
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Glossoptosis, Meningocele, Chorioretinal coloboma	ORPHA:2031
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cryptorchidism, Short toe, Decreased testicular size, Brachy...	ORPHA:3085
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Prea...	OMIM:617925
Vacterl With Hydrocephalus	Inguinal hernia, Anophthalmia, Spina bifida, Esophageal atresia, Hypoplasia of the radius, Hip di...	ORPHA:3412
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Meningocele, Cleft palate, Long philt...	ORPHA:2311
Vacterl/Vater Association	Occipital encephalocele, Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Cry...	ORPHA:887
Ring Chromosome 14 Syndrome	Pigmentary retinopathy, High palate	OMIM:616606
Cardiofaciocutaneous Syndrome	Generalized hyperpigmentation, Abnormal morphology of ulna, Cryptorchidism, Hydrocephalus, Submuc...	ORPHA:1340
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Limited elbow movement, Pierre-Robin sequence, Hip dislocation, Flattened epi...	OMIM:183900
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Thin upper lip vermilion, Intestinal malrotation, Single transverse palmar crease, Ve...	OMIM:614701
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Cerebrocostomandibular Syndrome	Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Clinodactyly of the 5th ...	ORPHA:1393
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Cryptorchidism, Short long bone, Rod-cone dystrophy, Brachydactyly	OMIM:615633
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Cohen Syndrome	Short metacarpal, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Single transv...	OMIM:216550
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Downturned corn...	OMIM:613792
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus, Anal atresia	OMIM:312190
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Joubert Syndrome 39	Occipital encephalocele, Retinal dystrophy, Joint contracture of the 5th finger, Postaxial polyda...	OMIM:619562
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Downturned corn...	ORPHA:264200
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Oligodontia, Cleft soft palate, Cryptorchidism, Gingival overgrowth, Mesomelia, ...	OMIM:616331
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate...	ORPHA:544254
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Cryptorchidism, Hip dislocation, Pigmentary retinopathy	ORPHA:370968
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa...	OMIM:258865
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hydrocephalus, Myelomeningocele, Ane...	ORPHA:63259
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Trisomy 20P	Finger syndactyly, Macroorchidism, Camptodactyly of finger, Spina bifida, Abnormality of the dent...	ORPHA:261318
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem...	OMIM:600920
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact...	OMIM:174300
Acrocraniofacial Dysostosis	Tapered finger, Coxa valga, Cleft palate, Ulnar deviation of finger, Genu valgum, Flared iliac wi...	ORPHA:949
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt...	OMIM:619142
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl...	ORPHA:313781
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Retinitis Pigmentosa 89	Retinal thinning, Postaxial polydactyly, Esophageal varix, Hyperautofluorescent retinal lesion, R...	OMIM:618955
Cleidocranial Dysplasia	High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodactyly of the 5th ...	ORPHA:1452
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Optic di...	ORPHA:233
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Furrowed tongue	ORPHA:2743
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Oculodentodigital Dysplasia	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu...	ORPHA:2710
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Matthew-Wood Syndrome	Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis	ORPHA:2470
Isotretinoin Syndrome	Spina bifida occulta, Cleft palate	ORPHA:2305
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Hydrocephalus, Humeroradial synostosis, Ulnar bowing, Femoral...	OMIM:207410
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Cryptorchidism, Ulnar bowing, Shortening of all...	OMIM:619135
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Meckel Syndrome	Encephalocele, Bowing of the long bones, Anophthalmia, Aplasia/Hypoplasia of the tongue, Preaxial...	ORPHA:564
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Ramon Syndrome	Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology...	ORPHA:3019
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Myelomeningocele...	OMIM:311200
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Split hand, Anencephaly, Abnormal tibia morphology, Orofacial cleft...	ORPHA:1335
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho...	ORPHA:816
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Microphthalmia	ORPHA:261272
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Joubert Syndrome 27	Retinopathy, Thick lower lip vermilion, Polydactyly	OMIM:617120
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Hydrocephalus, Postaxial hand polydactyly, Anencephaly,...	OMIM:612284
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Cryptorchidism, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Drumst...	OMIM:612938
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism...	ORPHA:1865
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Holoprosencephaly	Omphalocele, Encephalocele, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, A...	ORPHA:2162
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Esophageal atresia, Anophthalmia, Tracheoesophageal fistula	ORPHA:77298
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia	OMIM:616910
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Intestinal malrotation, Aqueductal stenosis, Abnormal fi...	ORPHA:3035
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp...	ORPHA:989
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal...	OMIM:300166
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Protruding tongue, Hydrocephalus, Cherry red spot of the macula, Optic a...	ORPHA:93400
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra...	OMIM:304120
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Orofacial clef...	ORPHA:2549
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Spina bifida, Myelomeningocele, Blue irides, Or...	OMIM:193500
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Bardet-Biedl Syndrome 6	Syndactyly, Rod-cone dystrophy, Pigmentary retinopathy, Postaxial polydactyly	OMIM:605231
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Intestinal pseudo-ob...	OMIM:309900
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi...	ORPHA:1765
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Rothmund-Thomson Syndrome Type 2	Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Hypopigmentation of the s...	ORPHA:221016
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Preaxial hand polydactyly, Foot polydactyly, Lymphoid nodular hyperplasia, ...	ORPHA:210548
Joubert Syndrome 20	4-5 toe syndactyly, Retinopathy, Postaxial polydactyly	OMIM:614970
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Abnormality of skin pigmentation, Chorioretinal coloboma, Finger...	ORPHA:2092
Mulibrey Nanism	Dental crowding, Single transverse palmar crease, Enamel hypoplasia, Dental malocclusion, Pigment...	OMIM:253250
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Forearm undergrowth	OMIM:602200
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
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar...	OMIM:601005
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ov...	OMIM:616738
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the...	ORPHA:2369
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor...	ORPHA:1328
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Orofacial cleft, Cleft pa...	ORPHA:220493
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Flexion contracture of finger, Rod-cone dystrophy, Optic...	OMIM:609033
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Cryptorchidism, Non-midline cleft lip, Abnormal femur morph...	ORPHA:3429
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cryptorchidism, Hip dislocation, Macroglossia, Pigmentary retinopathy, Open mouth	OMIM:613156
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epi...	ORPHA:1433
Bardet-Biedl Syndrome 1	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Dental...	OMIM:209900
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hypoplasia of the tarsal bones, Phocomeli...	OMIM:276820
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Broad hallux, Single transverse palmar crease, Retinal pigment epithe...	OMIM:614105
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft upper lip, Palmar...	OMIM:109400
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ...	ORPHA:2010
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia...	OMIM:114290
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the r...	OMIM:617895
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Pyloric s...	ORPHA:3138
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Humeroradial synostosis, Cleft pala...	OMIM:251230
Amish Lethal Microcephaly	Optic atrophy, Cleft soft palate, Spina bifida	ORPHA:99742
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A...	ORPHA:1677
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec...	ORPHA:398124
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Retinal colobo...	OMIM:184705
W Syndrome	Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Elbow dislocation, Submu...	ORPHA:2804
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy, Abnormal palate morphology, Bilateral single ...	ORPHA:44
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn...	ORPHA:249
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni...	ORPHA:897
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Abnormal testis morpho...	ORPHA:791
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Joubert Syndrome 8	Occipital encephalocele, Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Frontorhiny	Encephalocele, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Basal encephalocele, C...	ORPHA:391474
Bardet-Biedl Syndrome 8	Rod-cone dystrophy, Postaxial polydactyly	OMIM:615985
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Senior-Loken Syndrome 9	Retinal dystrophy, Hypoplasia of the femoral head, Macular degeneration, Polydactyly, Rod-cone dy...	OMIM:616629
Waardenburg Syndrome	Intestinal obstruction, Hypopigmentation of hair, Aplasia/Hypoplasia of the colon, Aganglionic me...	ORPHA:3440
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Atrioventricular block	OMIM:614407
Cockayne Syndrome Type 1	Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely spaced prim...	ORPHA:90321
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia	OMIM:616812
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Arachnodactyly, Abnormality of retinal pigmentation	ORPHA:171844
Fraser Syndrome	Omphalocele, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Anophthalmia, Enc...	ORPHA:2052
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge...	OMIM:619721
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Cryptorchidism, Cleft palate, Downturned c...	OMIM:614230
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc...	OMIM:218600
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Absent thumb, Unilateral radial aplasia, Hypoplas...	OMIM:614900
Holoprosencephaly 1	Microphthalmia, Facial cleft, Median cleft lip and palate	OMIM:236100
Genitopalatocardiac Syndrome	Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Non-midline cleft lip, Cleft palate, D...	ORPHA:2075
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Abnormal acetabulum morphology, Retinal dystrophy, Postaxial polydactyly...	ORPHA:397715
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Scapular winging, Bowed humerus, Tarsa...	OMIM:272460
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Abnormality of retinal pigmentation	ORPHA:1496
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Cloacal Exstrophy	Intestinal malrotation, Spina bifida, Myelomeningocele, Abnormal tibia morphology, Hip dislocatio...	ORPHA:93929
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Hypopigmentation of the skin, Short metacarpal, Hyperpigmentation of t...	ORPHA:221008
Cerebellar Ataxia-Hypogonadism Syndrome	Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental...	ORPHA:2750
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilateral talipes...	OMIM:600145
Lathosterolosis	Toe syndactyly, Postaxial hand polydactyly, Meningocele, Gingival overgrowth, Postaxial foot poly...	ORPHA:46059
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Cleft palate	OMIM:243440
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Metatarsus adductus, Cryptorchidism, Brushfield spots, Optic ner...	OMIM:214110
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Jalili Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo...	ORPHA:1873
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Reticulated skin pigmentation, Cleft palate, Osteolytic defect...	ORPHA:50815
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Spina bifida, Abnormality of the hand, High, narrow palate...	OMIM:234100
Johnson Neuroectodermal Syndrome	Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, Everted lower lip vermi...	ORPHA:2316
Joubert Syndrome 1	Optic disc pallor, Retinal dystrophy, Protruding tongue, Postaxial hand polydactyly, Optic disc c...	OMIM:213300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thin upper lip vermilion, Broad hallux, Overlapping toe, Spina bifida, Abnormality of the hand, O...	ORPHA:508498
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short palm, Duplication of the distal phalanx of han...	OMIM:268310
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Sandal gap, Abnormal retinal vascular morphology, Optic atro...	ORPHA:2715
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Abnormal metaphysis morphology	ORPHA:290
Branchio-Oculo-Facial Syndrome	Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Premature grayi...	ORPHA:1297
3Mc Syndrome	Bilateral cryptorchidism, Hip dislocation, Limited pronation/supination of forearm, Orofacial cle...	ORPHA:293843
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, First degree atrioventricular block	OMIM:160900
Mend Syndrome	Broad hallux, Overlapping toe, Long fingers, Hydrocephalus, Cryptorchidism, 2-3 toe syndactyly, S...	OMIM:300960
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Retinal dystrophy, Intestinal malrotation, Hamartoma of tongue, Preaxial hand p...	OMIM:263520
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Single transve...	OMIM:247200
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial h...	OMIM:619879
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro...	OMIM:154400
Joubert Syndrome 23	Polydactyly	OMIM:616490
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Selective tooth agenesis, Abnormal dental enam...	ORPHA:2909
Joubert Syndrome 37	Microphthalmia, High palate, Postaxial polydactyly	OMIM:619185
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, High palate	ORPHA:329336
Refsum Disease	Abnormality of retinal pigmentation, Short metacarpal, Hammertoe, Abnormal epiphysis morphology, ...	ORPHA:773
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyly, Limited e...	ORPHA:221120
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, Lipomyelomeningocele, Dental ...	OMIM:616580
Lyme Disease	Arrhythmia, Atrioventricular block	ORPHA:91546
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Genu valgum, Cli...	OMIM:620072
Microphthalmia, Syndromic 9	Intrauterine growth retardation, Inguinal hernia, Anophthalmia, Bilateral microphthalmos	OMIM:601186
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Hydroce...	ORPHA:77301
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Hydrocephalus, Esophageal varix, Optic atrophy, Hip dysplasia, Inflammatio...	OMIM:614576
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro...	ORPHA:2753
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Microdontia, Short phalanx...	OMIM:143095
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Palmoplantar keratoderma, Everted lower lip vermilion, Micro...	ORPHA:578
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa...	ORPHA:98855
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:98853
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block	ORPHA:392
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Wrist swelling, Retinal pigment epithelial mottling, Chor...	ORPHA:448237
Popliteal Pterygium Syndrome	Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finge...	OMIM:119500
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Hip dislocation	OMIM:619059
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Abnorm...	ORPHA:138
Lateral Meningocele Syndrome	Dental crowding, High, narrow palate, Cryptorchidism, Meningocele, High palate, Umbilical hernia,...	ORPHA:2789
Catel-Manzke Syndrome	Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid...	OMIM:616145
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Prolidase Deficiency	Abnormality of retinal pigmentation, Arachnodactyly, Carious teeth, Genu valgum, Palmoplantar ker...	ORPHA:742
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Meckel Syndrome, Type 1	Occipital encephalocele, Lobulated tongue, Syndactyly, Cleft upper lip, Cryptorchidism, Postaxial...	OMIM:249000
Lateral Meningocele Syndrome	Dental crowding, Cryptorchidism, Hydrocephalus, Meningocele, Cleft palate, High palate, Long phil...	OMIM:130720
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait ...	ORPHA:1969
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Chorioretinal coloboma, 2-4 finger synd...	OMIM:107480
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Abnormal tongue morphology, Downturned corners of mouth, Hip dysplasia, Polydactyly	ORPHA:531151
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Downturned corners of mouth, Widely spaced teeth, High p...	ORPHA:199
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola...	OMIM:309800
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Cr...	ORPHA:2886
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl...	ORPHA:98863
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, High palate, Clinodactyly of the 5t...	ORPHA:3103
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Narrow greater sciatic notch, Short phalanx of finger, Broad metacarpals,...	ORPHA:508533
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric...	ORPHA:26793
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Hydrocephalus, Partial dupli...	OMIM:227646
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micromelia, Swollen lip, Lon...	OMIM:256520
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ...	OMIM:608670
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Postaxial polydactyly	OMIM:603387
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Hand monodactyly, Hypoplasia of the ulna, Cleft up...	OMIM:214800
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Polydactyly, Pigmentary retinopathy	OMIM:616562
Bardet-Biedl Syndrome	Finger syndactyly, Postaxial hand polydactyly, Pigmentary retinopathy, Cryptorchidism	ORPHA:110
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Retinal pigment epithelial mottling	OMIM:619517
Mandibulofacial Dysostosis-Microcephaly Syndrome	Preaxial hand polydactyly, Cleft palate, Accessory oral frenulum	ORPHA:79113
Neu-Laxova Syndrome	Abnormality of the philtrum, Spina bifida, Micromelia, Submucous cleft hard palate, Cleft palate,...	ORPHA:2671
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Postaxial polydactyly	OMIM:219730
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Phakomatosis Pigmentokeratotica	Hemiatrophy, Cryptorchidism, Spina bifida, Melanocytic nevus	ORPHA:2874
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Intestinal malrotation, Spina bifida, Py...	ORPHA:2308
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crea...	OMIM:214100
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, ...	OMIM:180849
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Preaxial hand polydactyly, Deep philtrum, Esophageal atresia, Cleft ...	OMIM:610536
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Anal stenosis, Bowing of the legs, Aplasia/Hypoplasia of the patella, Prea...	OMIM:617063
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Cleft upper lip, Malr...	OMIM:113620
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, Microphthalmia	OMIM:206900
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Bardet-Biedl Syndrome 20	Papilledema, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe...	OMIM:619471
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand, Hip dislocation,...	OMIM:300968
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Aicardi Syndrome	Intestinal polyposis, Retinal detachment, Abnormality of retinal pigmentation, Cleft upper lip, H...	ORPHA:50
Hydrolethalus Syndrome 1	Median cleft lip, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx o...	OMIM:236680
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Abnormality of the hum...	ORPHA:3186
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, High palate, Hypopigmentation of the skin, Ab...	ORPHA:1493
Desmoid Tumor	Intestinal polyposis, Abnormality of retinal pigmentation, Intestinal obstruction, Malabsorption	ORPHA:873
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Cleft palate, Cleft upper lip	OMIM:313850
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Talipes equinovarus, Anal atresia	OMIM:601389
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly,...	ORPHA:2166
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Aloba...	OMIM:610828
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Flexion contracture of finger, Pigmentary retinopathy, C...	ORPHA:88628
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Aicardi Syndrome	Retinal detachment, Proximal placement of thumb, Hiatus hernia, Spina bifida, Cleft upper lip, Ch...	OMIM:304050
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux	OMIM:263630
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi...	OMIM:602080
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Senior-Loken Syndrome 8	Rod-cone dystrophy, Retinal dystrophy, Polydactyly, Macular atrophy	OMIM:616307
Kinsship Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Thick lower lip vermilion,...	OMIM:619297
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Lumbar Syndrome	Spina bifida, Cryptorchidism, Myelomeningocele, Ectopic anus, Anal atresia	ORPHA:83628
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Wolfram Syndrome 1	Pigmentary retinopathy, Optic atrophy, Limited mobility of proximal interphalangeal joint, Testic...	OMIM:222300
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Orofacial cleft, Downturned corners of mouth, Short philtrum, Ps...	OMIM:194190
Werner Syndrome	Abnormality of retinal pigmentation, Rocker bottom foot, Small hand, Premature graying of hair, W...	ORPHA:902
Aspartylglucosaminuria	Abnormal morphology of ulna, Abnormality of the dentition, Carious teeth, Malabsorption, Gingival...	ORPHA:93
Neurofibromatosis, Type I	Inguinal freckling, Spina bifida, Aqueductal stenosis, Hydrocephalus, Axillary freckling, Tibial ...	OMIM:162200
Adnp Syndrome	Thin upper lip vermilion, Broad hallux, Sandal gap, Single transverse palmar crease, Abnormal toe...	ORPHA:404448
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Micro Syndrome	Abnormality of retinal pigmentation, Cryptorchidism, Optic atrophy, High palate, Short philtrum, ...	ORPHA:2510
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension	OMIM:617021
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Cln3 Disease	Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy	ORPHA:228346
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block	ORPHA:589821
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Abnormal optic n...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Abnormal optic n...	ORPHA:352665
Culler-Jones Syndrome	Cleft palate, Postaxial polydactyly, Cleft upper lip	OMIM:615849
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,...	OMIM:615873
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Arachnodactyly, Dental crowding, Esophag...	ORPHA:394
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Joubert Syndrome 3	Pigmentary retinopathy, Open mouth, Retinal dystrophy	OMIM:608629
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ...	OMIM:620076
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Agenesis of canine, Orofacial cleft, High palate, Long phil...	ORPHA:141099
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Hypoplasia...	OMIM:614099
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Third degree atrioventricular block	OMIM:530000
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Scapular winging, High palate	OMIM:600462
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Hydrocephalus, Optic atrophy, Retinal dysplasia	OMIM:613154
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Abnormality of the tongue	ORPHA:216866
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Lathosterolosis	Toe syndactyly, Myelomeningocele, Postaxial hand polydactyly, Gingival overgrowth, Postaxial foot...	OMIM:607330
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Thick vermilion border, Long philtrum	ORPHA:2526
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly	ORPHA:314655
Arima Syndrome	Retinal dystrophy, Postaxial hand polydactyly, Esophageal varix, Optic atrophy, Postaxial foot po...	OMIM:243910
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinod...	ORPHA:457284
Cockayne Syndrome A	Hip contracture, Retinal atrophy, Delayed eruption of primary teeth, Carious teeth, Cryptorchidis...	OMIM:216400
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Peroxisome Biogenesis Disorder 5A (Zellweger)	Single transverse palmar crease, Metatarsus adductus, Cryptorchidism, Brushfield spots, Optic ner...	OMIM:614866
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Polyd...	OMIM:301022
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Cryptorchidism, Hydrocephalus...	ORPHA:636
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ...	OMIM:302960
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Spina bifida, Tapered finger, Thick vermilion border, Narrow mouth, Bifi...	OMIM:619480
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Low-output conge...	ORPHA:308552
Hartsfield Syndrome	Syndactyly, Median cleft lip, Alobar holoprosencephaly, Cleft upper lip, Cryptorchidism, Cleft pa...	OMIM:615465
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at...	ORPHA:79102
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar c...	OMIM:617527
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy, Broad palm	OMIM:268020
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Rod-cone dystrophy, Polydactyly	OMIM:615989
Proteus Syndrome	Central heterochromia, Abnormal finger morphology, Abnormality of skin pigmentation, Chorioretina...	ORPHA:744
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Arachnodactyly, Abnormality of the philtrum, Short hallux, Cleft upper l...	ORPHA:280
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal dental morphology, Camptodactyly of fi...	ORPHA:217085
Mucopolysaccharidosis Type 3	Abnormality of the dentition, Avascular necrosis of the capital femoral epiphysis, Malabsorption,...	ORPHA:581
Braddock Syndrome	Preaxial hand polydactyly	ORPHA:52047
Cranioectodermal Dysplasia 2	Syndactyly, Inguinal hernia, Rhizomelia, Postaxial hand polydactyly, Cleft palate, Broad philtrum...	OMIM:613610
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Abnormal foveal mo...	ORPHA:580
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal dental morphology, Camptodactyly of fi...	ORPHA:217093
Linear Skin Defects With Multiple Congenital Anomalies 1	Single transverse palmar crease, Hydrocephalus, Cleft palate, Anteriorly placed anus, Pigmentary ...	OMIM:309801
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia	OMIM:615636
22Q11.2 Deletion Syndrome	Short philtrum, Arachnodactyly, Abnormal dental enamel morphology, Spina bifida, Cryptorchidism, ...	ORPHA:567
Marfan Syndrome	Retinal detachment, Dental crowding, Arachnodactyly, Protrusio acetabuli, Limited elbow movement,...	ORPHA:558
Pallister-Hall Syndrome	Holoprosencephaly, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cl...	ORPHA:672
Maternal Uniparental Disomy Of Chromosome 2	Clinodactyly of the 5th finger, Preaxial hand polydactyly, Retinal degeneration, Bilateral crypto...	ORPHA:96179
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal...	OMIM:300578
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly	OMIM:615824
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension	OMIM:615474
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Flexion contracture of finger, Meningocele, Palmoplantar keratoderma	ORPHA:1010
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Cleft upper lip, Partial duplication of thumb phalanx, Cle...	OMIM:164210
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Atrioventricular block	ORPHA:371428
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy, Macroglossia, Deep palmar crea...	ORPHA:505248
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Rabson-Mendenhall Syndrome	Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia...	ORPHA:769
Knobloch Syndrome 1	Occipital encephalocele, Retinal detachment, Optic disc pallor, Pyloric stenosis, Chorioretinal a...	OMIM:267750
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Nijmegen Breakage Syndrome	Anal stenosis, Sandal gap, Cleft upper lip, Retinal pigment epithelial mottling, Deep philtrum, 2...	OMIM:251260
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Abnormal dental enamel morphology, Abnormal rectum morphology, Microphthalmia, Abno...	ORPHA:2556
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Smooth philtrum, Macular coloboma, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Abnormal...	ORPHA:79282
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Narrow mouth, Cryptorchidism, Humeroradial synostosis, Hypoplasi...	ORPHA:3404
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Pagod Syndrome	Encephalocele, Spina bifida, Meningocele, Optic atrophy, Abnormal testis morphology	ORPHA:991
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, High palate, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of th...	OMIM:268300
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Overlapping fingers, Overlapping toe, Aganglionic megacolon, Abnormali...	ORPHA:798
Cockayne Syndrome B	Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Dental malocclusion, Optic atro...	OMIM:133540
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Atrial Septal Defect 1	Second degree atrioventricular block, Aortic valve stenosis	OMIM:108800
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval	OMIM:614947
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in upper limbs, Tongue atrophy, Abnormality of retinal pigmentation, Han...	ORPHA:466768
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Anomaly of lower limb diaphyses, Fair hair, Arachnodactyly, Abnormal dental ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Anomaly of lower limb diaphyses, Fair hair, Arachnodactyly, Abnormal dental ...	ORPHA:363958
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Cryptorchidism, Gingi...	OMIM:312870
Alstrom Syndrome	Cone/cone-rod dystrophy, Abnormality of the hand, Abnormality of the dentition, Gingivitis, Pigme...	OMIM:203800
Usher Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo...	ORPHA:886
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Hydrocephalus, Smooth philtrum	OMIM:277400
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Abnormal dental morpholo...	ORPHA:191
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Hyperoxaluria, Primary, Type I	Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication	OMIM:259900
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Fractures of the long bones, Optic atrophy, Pigmentary retinopathy, Retin...	ORPHA:157850
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup...	OMIM:617088
Degcags Syndrome	Smooth philtrum, Syndactyly, Toe syndactyly, Jejunal atresia, Protruding tongue, Hiatus hernia, S...	OMIM:619488
Okamoto Syndrome	Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intesti...	ORPHA:2729
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Postaxial polydactyly, Triangular mouth, Pigmentary retinopathy, Clin...	OMIM:618460
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas	OMIM:560000
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Holoprosencephaly, Abnormal digit mor...	ORPHA:95494
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophilic infiltration...	OMIM:610168
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Pyloric stenosis, Polydactyly, Acromesomelia, Clin...	ORPHA:464306
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Wrist flexion contracture, Talipes equinovarus, Retinal pigment epithelial...	OMIM:618733
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Talipe...	ORPHA:573278
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, High palate, Pigmentary retinopathy	ORPHA:502423
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Downturned corners of mouth, Short philtrum, Premature loss of teeth, Long...	ORPHA:3455
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Inguinal hernia, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pylor...	ORPHA:268261
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Abnormality of the dentition	ORPHA:2235
Alobar Holoprosencephaly	Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ...	ORPHA:93924
Semilobar Holoprosencephaly	Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Neural tube defect, High palate, ...	ORPHA:220386
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Equinus calcaneus	ORPHA:746
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Thin upper lip vermilion, Congenital hip dislocation, Overlapping toe, Postaxial p...	ORPHA:480880
Faciocardiomelic Syndrome	Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtrum	OMIM:612731
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Malabsorption, Perifoveal ring of hyperautofluorescence, Pigmentary retinopat...	OMIM:240300
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Abnormal mitochondrial shape, Short femur, Orofacial cleft, Polydactyly	ORPHA:17
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, High palate	OMIM:220110
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, High palate	OMIM:617675
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talon cusp, Widened ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talon cusp, Widened ...	ORPHA:353277
Glycogen Storage Disease Due To Acid Maltase Deficiency	Transient ischemic attack, Vasculitis, Shortened PR interval, Left ventricular outflow tract obst...	ORPHA:365
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Congenital hip dislocation, Coxa valga, Optic atrophy...	ORPHA:404454
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Oeis Complex	Congenital hip dislocation, Intestinal malrotation, Cryptorchidism, Myelomeningocele, Hydrocephal...	OMIM:258040
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Rectoperineal fistula, Preaxial hand polydactyly, Partial d...	ORPHA:857
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl...	ORPHA:167
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Abetalipoproteinemia	Abnormality of retinal pigmentation, Talipes equinovarus, Steatorrhea, Fat malabsorption, Rod-con...	ORPHA:14
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Choanal Atresia	Polydactyly	ORPHA:137914
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Rocker bottom foot, Patchy hypo- and hyperpigmentation, Oste...	ORPHA:79474
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ...	OMIM:301068
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Neurocardiofaciodigital Syndrome	Syndactyly, Optic disc pallor, Thin vermilion border, High palate, Polydactyly	OMIM:619869
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Fat malabsorption, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Cleft palate, Reti...	ORPHA:790
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Leopard Syndrome 1	Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s...	OMIM:151100
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Scapular winging, Intestinal pseudo-obstruction	OMIM:607459
Legius Syndrome	Inguinal freckling, Axillary freckling, Multiple cafe-au-lait spots, Diaphyseal dysplasia, Polyda...	ORPHA:137605
Xeroderma Pigmentosum, Complementation Group B	Freckling, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Melas	Pigmentary retinopathy, Optic atrophy, Intestinal pseudo-obstruction, Vitiligo	ORPHA:550
Cystinosis, Nephropathic	Hypopigmentation of hair, Retinal pigment epithelial mottling, Metaphyseal widening, Genu valgum,...	OMIM:219800
Ramon Syndrome	Delayed eruption of teeth, Optic disc pallor, Gingival fibromatosis, Narrow palate, Pigmentary re...	OMIM:266270
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Cryptorchidism, Ulnar bowing, Humeroradial...	OMIM:201750
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Alagille Syndrome 1	Hypoplasia of the ulna, Chorioretinal atrophy, Pigmentary retinopathy, Short distal phalanx of fi...	OMIM:118450
Immunodeficiency 87 And Autoimmunity	Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp...	OMIM:619573
Leptospirosis	Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage...	ORPHA:509
Exstrophy-Epispadias Complex	Anal stenosis, Spina bifida, Cryptorchidism, Hydrocephalus, Anal atresia	ORPHA:322
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
African Trypanosomiasis	Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular...	ORPHA:3385
Pearson Syndrome	Pigmentary retinopathy, Steatorrhea, Cafe-au-lait spot, Hyperpigmentation of the skin, Median cle...	ORPHA:699
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Postaxial polydactyly, Aqueductal stenosis, Hydrocephalus, Broad first metatarsal, Es...	OMIM:619534
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Hyperpigmentation of the skin, Retinal degeneration	OMIM:234200
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Narrow mouth	OMIM:606721

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 Cdk20

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 Cdk20.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Cell Cycle-Related Kinase (CCRK) regulates ciliogenesis and Hedgehog signaling in mice.	PLoS genetics (August 2017)	Cdk20^{tm1a(KOMP)Wtsi}	PMC5574612

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MGI Allele	Allele Type	Produced
Cdk20^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cdk20^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Cdk20^em1(IMPC)Bay	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: Cdk20 MGI:2145349

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

MicroCT E18.5

X-ray

X-ray

Eye Morphology

X-ray

Eye Morphology

Electrocardiogram (ECG)

X-ray

X-ray

Human diseases caused by Cdk20 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data