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Gene: Qsox1 MGI:1330818

Gene Summary

Name:

quiescin Q6 sulfhydryl oxidase 1

Synonyms:

QSOX, 1300003H02Rik, Qscn6, b2b2673Clo

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased prepulse inhibition	Qsox1^{em1(IMPC)Kmpc}	HOM	Late adult	8.16×10^-06
decreased fasting circulating glucose level	Qsox1^{em1(IMPC)Kmpc}	HOM	Late adult	4.53×10^-06
increased grip strength	Qsox1^{em1(IMPC)Kmpc}	HOM	Late adult	4.10×10^-05
abnormal auditory brainstem response	Qsox1^{em1(IMPC)Kmpc}	HOM	Early adult	9.72×10^-05
increased heart weight	Qsox1^{em1(IMPC)Kmpc}	HOM	Late adult	6.20×10^-05
increased circulating lactate dehydrogenase level	Qsox1^{em1(IMPC)Kmpc}	HOM	Late adult	7.62×10^-07
abnormal skin coloration	Qsox1^{em1(IMPC)Kmpc}	HOM	Late adult	4.36×10^-05
abnormal coat/hair pigmentation	Qsox1^{em1(IMPC)Kmpc}	HOM	Late adult	1.64×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

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X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Lateral Orientation

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XRay Images Hind Leg and Hip

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XRay Images Whole Body Lateral Orientation

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XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Hind Leg and Hip

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

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Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Dorso Ventral

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Human diseases caused by Qsox1 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 Qsox1 (0 diseases)
Human diseases predicted to be associated with Qsox1 (1494 diseases)

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

The table below shows human diseases predicted to be associated to Qsox1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Broad nasal tip, Micrognathia, H...	OMIM:615524
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Brachydactyly, Thin upper lip vermilion, Truncus arterios...	ORPHA:401935
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Gombo Syndrome	Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:233270
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac sept...	ORPHA:294975
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,...	ORPHA:261272
Orofaciodigital Syndrome Xviii	Brachydactyly, Sandal gap, Single transverse palmar crease, Prominent nasal bridge, Postaxial pol...	OMIM:617927
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia...	OMIM:206920
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Cleft pa...	ORPHA:2516
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Truncus arte...	OMIM:611867
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Abnormality of the dentition, Micrognathia, High pa...	ORPHA:217340
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Ventricular septal defect, Orofacial cleft, Split foot, ...	ORPHA:3434
Verheij Syndrome	Thin upper lip vermilion, Anteverted nares, Optic nerve hypoplasia, Truncus arteriosus, Broad nas...	OMIM:615583
Meckel Syndrome, Type 8	Anophthalmia, Cleft upper lip, Pericardial effusion, Depressed nasal ridge, Cleft palate, Polydac...	OMIM:613885
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, Exaggerated cupid's bow, Micro...	ORPHA:261120
Genitopalatocardiac Syndrome	Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp...	OMIM:231060
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Foot ...	OMIM:616589
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Anteverted nares, Aganglionic megaco...	ORPHA:59315
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Underdeveloped nasal alae, Cleft palate, Truncus arteriosus, Short dis...	OMIM:601355
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Atr...	ORPHA:2538
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Hypoplastic right heart, Ventricu...	OMIM:618142
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Cubitus valgus, Clinodactyly,...	OMIM:300577
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Feingold Syndrome 1	Micrognathia, Asplenia, High palate, Accessory spleen, Anteverted nares, Short thumb, Short toe, ...	OMIM:164280
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Postaxial hand pol...	OMIM:136760
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Coarctation ...	ORPHA:268249
Methimazole Embryofetopathy	Ventricular septal defect, Choanal atresia, Esophageal atresia, Tracheoesophageal fistula, Coarct...	ORPHA:1923
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Camptodactyly of finger, Ventr...	ORPHA:2008
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Hydrolethalus	Tracheal atresia, Anophthalmia, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous c...	ORPHA:2189
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Anencephaly 2	Anophthalmia, Median cleft lip, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate	OMIM:619452
Temtamy Syndrome	Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Aortic aneurysm, Clinodactyly of ...	ORPHA:1777
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Wide nose, Rocker bottom foot, Wide nasal bridge, Dysphagia, Atrial septal def...	ORPHA:89844
Skraban-Deardorff Syndrome	Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's...	OMIM:617616
Adams-Oliver Syndrome 4	Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ...	OMIM:615297
Congenital Contractural Arachnodactyly	Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Tracheoesophageal fistula, Mitra...	ORPHA:115
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal mitral valve morp...	ORPHA:1277
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar...	ORPHA:228190
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac...	OMIM:314390
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ...	ORPHA:2712
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Microphthalmia	OMIM:616570
Double Outlet Right Ventricle	Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard p...	ORPHA:3426
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Microphthalmia, Syndromic 9	Anophthalmia, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Bilateral microp...	OMIM:601186
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short...	OMIM:604381
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Vascular ring, Atrial s...	OMIM:603387
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Optic disc hypoplasia, Aplastic anemia, Absent thumb, Esophageal atres...	OMIM:300514
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nasal bridge, Cleft...	OMIM:612913
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Esophageal atresia, Trac...	OMIM:619859
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Prominent nose, Micrognathia, High, narrow pa...	ORPHA:435638
Pierre Robin Syndrome	Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis	OMIM:261800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Anophthalmia, Ventricular septal defect, Esophageal atresia, Patent ductus arte...	ORPHA:77298
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Prominent no...	OMIM:251255
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Delpire-Mcneill Syndrome	Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia	OMIM:619083
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Abnormally large globe, Micrognathia, Hypoplasia of the maxilla, Widely...	ORPHA:363417
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft	OMIM:611638
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Br...	OMIM:601927
Braddock-Carey Syndrome 2	Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Retr...	OMIM:619981
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Acces Syndrome	Hip dislocation, Tracheoesophageal fistula, Hip dysplasia, Split foot, Ectrodactyly, Clinodactyly...	OMIM:619959
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Dextrocardia, Micrognathia, 2-3 finger syndact...	ORPHA:2437
You-Hoover-Fong Syndrome	Accessory oral frenulum, Cleft palate, Vascular ring, Coarctation of aorta, Clinodactyly, Double ...	OMIM:616954
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac...	OMIM:217085
Velocardiofacial Syndrome	Ventricular septal defect, Abnormality of the hand, Underdeveloped nasal alae, Bulbous nose, Velo...	OMIM:192430
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Symphalangism affecting the phal...	ORPHA:2547
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Abnormal nostril morphology, Narrow...	ORPHA:3469
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Abnormal car...	ORPHA:93941
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Absent thumb, Prominent nose, Short thumb, Patent ductus arteriosus, M...	OMIM:617516
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Anophthalmia Plus Syndrome	Anophthalmia, Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bi...	ORPHA:1104
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Accessory oral frenulum, Conical tooth, Complete atrioventricular canal de...	OMIM:619142
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi...	ORPHA:1278
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Arachnodac...	ORPHA:261330
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Cleft ala nasi, Anophthalmia, Cleft palate, Microphthalmia	OMIM:164180
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly	ORPHA:141333
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Narrow mouth, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal cardiac septum morp...	ORPHA:2370
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, High, nar...	ORPHA:2879
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Microphthalmia With Limb Anomalies	Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2n...	ORPHA:1106
Trisomy 1Q	Microretrognathia, Wide nose, Toe syndactyly, Arachnodactyly, Depressed nasal bridge, Camptodacty...	ORPHA:261344
Bardet-Biedl Syndrome 7	Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Mal...	OMIM:615984
Orofaciodigital Syndrome Xvii	Median cleft lip, Prominent nose, Short middle phalanx of the 2nd finger, High, narrow palate, Pa...	OMIM:617926
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, High palate, Everted lower lip vermilion, Short nose, Aplas...	ORPHA:1695
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Preaxial polydactyly, Absent nasal bridge, Narrow greater sciatic notch, Short tibi...	OMIM:617925
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Cerebrooculonasal Syndrome	Anophthalmia, Postaxial hand polydactyly, High palate, Widely spaced teeth, Solitary median maxil...	ORPHA:66625
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Dental crow...	OMIM:609029
Trisomy 13	Anophthalmia, Ventricular septal defect, Median cleft lip, Abnormality of the dentition, High, na...	ORPHA:3378
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Broad nasal tip, Preaxial hand polydactyly, Orofacial cleft, Large hands	ORPHA:85287
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia...	OMIM:616300
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Small ...	ORPHA:969
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Depressed nasal bridge, Micrognathia, Abnormality of the humerus, Prea...	ORPHA:3098
Stromme Syndrome	Accessory spleen, Jejunal atresia, Prominent nasal bridge, Optic nerve hypoplasia, Intestinal mal...	OMIM:243605
Schisis Association	Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia	ORPHA:63862
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Cerebral hemorrhage, Abnormal hand morphology, Moyamoya phenomenon, Dilated cardiomyop...	OMIM:300845
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Wide nasal bri...	OMIM:614083
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Leukopenia, Abnormality of the liver, High palate, Triph...	ORPHA:84
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Depressed nasal bridge, An...	ORPHA:404440
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Atri...	OMIM:265380
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Melanin pigment...	OMIM:607624
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Abn...	ORPHA:861
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Micr...	ORPHA:1388
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio...	OMIM:607323
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo...	OMIM:614078
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Hypoplastic spleen, Ank...	OMIM:602361
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, Polydactyly, High p...	OMIM:300484
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th f...	ORPHA:508498
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo...	OMIM:616749
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, High, narrow pala...	OMIM:180849
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, ...	ORPHA:96170
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis ...	ORPHA:90652
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth...	ORPHA:1832
Axial Mesodermal Dysplasia Spectrum	Micrognathia, Missing ribs, Abnormality of the spleen, Anorectal anomaly, Tracheoesophageal fistu...	ORPHA:1834
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Microphthalmia, Broad ...	OMIM:614526
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Anteverted nares, Prominent nasal bridge, Abnormal spaced incisors, Broad nasal tip...	ORPHA:411986
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Prominent nasal bridge, Hamartoma of tongue, Broad nasal tip, ...	ORPHA:2754
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Depressed nasal bridge, Ventricular septal defect, Esophageal atresia, Pulm...	OMIM:301030
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Mic...	ORPHA:93267
Congenital Tracheomalacia	Ventricular septal defect, Bronchomalacia, Tracheomalacia, Cardiomegaly, Anomalous tracheal carti...	ORPHA:95430
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Pierpont Syndrome	Wide nose, Broad nasal tip, Long upper lip, Short toe, Broad palm, Short foot, Broad philtrum, De...	OMIM:602342
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening	OMIM:183700
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Prominent nasal bridge, Tracheoesophageal fistula, Abnormal hip bone m...	ORPHA:3068
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Overriding aorta, Prominent nasal bridge, Carious teeth, Abnormal aortic a...	ORPHA:1110
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Vacterl/Vater Association	Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Abnormality of the pancreas,...	ORPHA:887
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Opitz Gbbb Syndrome	Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Anteverted nares, Cleft li...	ORPHA:2745
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Atrial septal defect, Promi...	OMIM:618494
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Gastroesophageal reflux, Humerorad...	OMIM:134780
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Interphalangeal joint contracture of finger, Preaxial hand polydactyly,...	OMIM:606242
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect, Anteverted nares, Rocker bottom foot, Exaggerated cupid's bow, Wide mo...	OMIM:618506
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Esophageal Atresia	Barrett esophagus, Ventricular septal defect, Choanal atresia, Intestinal malrotation, Cleft lip,...	ORPHA:1199
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Parachute mitral valve, Prominent nose, Short philtrum, Gastroesophageal reflux,...	OMIM:618316
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Hepatomegaly, Pancytopenia, Stomatitis, Dextrocardia, Megaloblastic ane...	OMIM:277380
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Prominent nose, Mi...	OMIM:612474
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Choanal atresia, Esophageal atresia, Muscular ventricular septal defect, Submucous cle...	OMIM:619227
Fanconi Anemia, Complementation Group D2	Pancytopenia, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplic...	OMIM:227646
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Non-Distal Duplication 13Q	Arachnodactyly, Abnormality of the dentition, Micrognathia, Postaxial hand polydactyly, Thin verm...	ORPHA:1702
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Downtur...	ORPHA:1895
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease, Cleft palate, Cleft upper lip	OMIM:600251
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate, Hepatomegaly	ORPHA:2432
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Fryns Syndrome	Tented upper lip vermilion, Micrognathia, Abnormal aortic arch morphology, High palate, Gastroeso...	ORPHA:2059
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Cholest...	OMIM:615415
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Cleft uppe...	OMIM:612561
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Abnormal cardiac septum mo...	ORPHA:1200
Chromosome 3Pter-P25 Deletion Syndrome	Micrognathia, Downturned corners of mouth, High palate, Gastroesophageal reflux, Atrioventricular...	OMIM:613792
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ...	OMIM:613091
Clark-Baraitser Syndrome	Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ...	OMIM:617752
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Bicuspid aortic valve, Cleft soft pa...	OMIM:618529
Thakker-Donnai Syndrome	Ventricular septal defect, Anteverted nares, Bulbous nose, Tracheoesophageal fistula, Downturned ...	ORPHA:1780
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li...	OMIM:147250
Charlie M Syndrome	Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Wide nasal brid...	ORPHA:1406
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of...	OMIM:155050
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Depressed nasal bridge, Camp...	ORPHA:1529
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Polydactyly, Microphthalmia, Leuke...	OMIM:602501
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Ventricular septal defect, Postaxial polydactyly, Pancreatic ...	OMIM:615503
Moebius Syndrome	Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed nasal bridge, Abnormality o...	OMIM:157900
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val...	ORPHA:166272
Acromelic Frontonasal Dysostosis	Syndactyly, Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Broad nasal tip, Bifid nasa...	OMIM:603671
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Atrial...	ORPHA:93946
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Micrognathia, Esophageal atresia, Hypoplasia of the radius, ...	ORPHA:3412
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Thin upper lip vermilion, Broad hallux, Overlapping toe, Sandal gap, Broad nasal tip, Prominent n...	OMIM:617755
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Long philtrum, Atrial septal defect, Microphthalmia, Short n...	OMIM:300887
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na...	OMIM:619736
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Micrognathia, Bulbou...	OMIM:613604
Cerebrooculonasal Syndrome	U-Shaped upper lip vermilion, Anophthalmia, Anteverted nares, Prominent nasal bridge, Proboscis, ...	OMIM:605627
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Narrow mouth, Open mouth, Delayed eruption of permanent teeth, Sh...	OMIM:619356
Mosaic Trisomy 14	Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Wide nasal bridg...	ORPHA:1703
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Mosaic Trisomy 1	Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmonary artery atresia, ...	ORPHA:1692
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Retrognathia, High palate, Narrow mouth	ORPHA:2528
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septal defect, Hand ...	OMIM:214800
Trisomy 12P	Micrognathia, Wide nasal bridge, Cleft palate, Aplasia/Hypoplasia of the iris, Downturned corners...	ORPHA:1699
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de...	OMIM:235750
Pallister-Hall-Like Syndrome	Toe syndactyly, Depressed nasal bridge, Median cleft lip, Micromelia, Micrognathia, Postaxial han...	OMIM:241800
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aort...	OMIM:617478
Pierpont Syndrome	Thin upper lip vermilion, Wide nasal ridge, Short toe, Broad philtrum, Deep palmar crease, Thin v...	ORPHA:487825
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormal bronchus morphology, Abnormal stomach morphology, Ascending a...	ORPHA:141127
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Abnormality of the elbow, Fla...	ORPHA:163649
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Fetal Trimethadione Syndrome	Depressed nasal bridge, Ventricular septal defect, Micrognathia, High palate, Transposition of th...	ORPHA:1913
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Arachnodactyly, Camptodactyly of finge...	ORPHA:1716
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft maxillary alveolar...	ORPHA:508488
Infantile Myofibromatosis	Neoplasm of the pancreas, Intestinal obstruction, Gingival fibromatosis, Tracheoesophageal fistul...	ORPHA:2591
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip...	OMIM:619343
Stevenson-Carey Syndrome	Atrial septal defect, Anteverted nares, Underdeveloped nasal alae, Narrow mouth, Pierre-Robin seq...	OMIM:611961
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, T...	OMIM:612651
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Mi...	ORPHA:2863
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Depressed nasal bridge, Anteverted nares, Postaxial polydac...	OMIM:615761
Sweeney-Cox Syndrome	Micrognathia, Asplenia, High palate, Short philtrum, Gastroesophageal reflux, 2-5 toe syndactyly,...	OMIM:617746
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Oculomaxillofacial Dysostosis	Median cleft lip, Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the humerus,...	ORPHA:1794
Bardet-Biedl Syndrome 19	Atrial septal defect, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyl...	OMIM:615996
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication	OMIM:223200
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contr...	OMIM:300166
Seckel Syndrome 2	Microdontia, Prominent nose, Micrognathia, Clinodactyly of the 5th finger, Microphthalmia, Microg...	OMIM:606744
Cofs Syndrome	Camptodactyly of finger, Micrognathia, Abnormal nasal morphology, Wide nasal bridge, Everted lowe...	ORPHA:1466
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, High pa...	ORPHA:139471
Sandestig-Stefanova Syndrome	Rocker bottom foot, Muscular ventricular septal defect, Wide nasal bridge, Orofacial cleft, Perim...	OMIM:618804
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
C Syndrome	Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Hepatomegaly, Short ...	OMIM:211750
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance...	OMIM:215045
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri...	ORPHA:2831
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Atrial septal defect, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe s...	ORPHA:485405
Acrocephalopolydactyly	Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Limb undergrowth, Short nose, Brachyd...	ORPHA:221054
Holzgreve Syndrome	Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip	OMIM:236110
22Q11.2 Deletion Syndrome	Micrognathia, Anorectal anomaly, Abnormal aortic arch morphology, Short philtrum, Hypoplasia of t...	ORPHA:567
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia...	OMIM:258860
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology	ORPHA:1389
Hypoglossia With Situs Inversus	Micrognathia, Situs inversus totalis, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mout...	OMIM:612776
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Trisomy 4P	Depressed nasal bridge, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Pre...	ORPHA:1738
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Ventricular septal defect, Depressed nasal bridge, Micrognathia	ORPHA:1918
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose	ORPHA:1355
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Underdevel...	ORPHA:2378
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t...	ORPHA:94066
Charge Syndrome	Anophthalmia, Abnormal tibia morphology, Gastroesophageal reflux, Clinodactyly of the 5th finger,...	ORPHA:138
Temtamy Syndrome	Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Aortic aneurysm, Short 2nd t...	OMIM:218340
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Malabsorption, Pyloric stenos...	ORPHA:379
Chung-Jansen Syndrome	Anteverted nares, Tapered finger, Micrognathia, Hip dysplasia, Thin vermilion border, High palate...	OMIM:617991
Hartsfield Syndrome	Depressed nasal bridge, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of th...	ORPHA:2117
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Anteverted nares, Down-sloping shoulders, Microdontia, Micrognathia, Widely spaced tee...	OMIM:619694
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Ventricular septal defect, Abnormality...	ORPHA:369891
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p...	OMIM:617061
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Meckel Syndrome	Accessory spleen, Bowing of the long bones, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypoplasia...	ORPHA:564
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Patent ductus arterios...	ORPHA:65759
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Cleft...	OMIM:614815
Kapur-Toriello Syndrome	Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Camptodactyly o...	OMIM:244300
Perlman Syndrome	Hepatomegaly, Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Abnormal pancreas ...	ORPHA:2849
Heart And Brain Malformation Syndrome	Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Ventricular septal defect, Hig...	OMIM:616920
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Anteverted nares, Sandal gap, Dental crowding, Short ...	OMIM:617877
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Microg...	ORPHA:251071
Pelger-Huet Anomaly	Depressed nasal bridge, Ventricular septal defect, Abnormality of neutrophils, Abnormality of the...	OMIM:169400
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Depressed nasal bridge, Sandal gap, Proximal placement of thumb, Short ...	ORPHA:90650
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Feingold Syndrome	Hallux valgus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Esophageal...	ORPHA:1305
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide...	OMIM:601224
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,...	ORPHA:2751
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Ventricular septal defect, Microg...	OMIM:610536
Congenital Heart Defects And Skeletal Malformations Syndrome	Smooth philtrum, Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular septal defect, Den...	OMIM:617602
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Dextrocard...	OMIM:619657
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of...	ORPHA:1135
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Chronic rhinitis	OMIM:617577
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Prominent nose, Carious teeth, Micrognathia, Ta...	OMIM:613684
3C Syndrome	Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Gastroes...	ORPHA:7
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, A...	ORPHA:2001
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Orofacial clef...	ORPHA:2549
Ring Chromosome 10 Syndrome	Sandal gap, Aganglionic megacolon, Tapered finger, Micrognathia, Wide nasal bridge, Thin vermilio...	ORPHA:1438
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Jaundice, Patent ductus ...	ORPHA:290
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen...	OMIM:618961
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Na...	OMIM:277720
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Micrognathia, Gastroesophageal reflux, Narrow mouth, Short nose, Abnorma...	ORPHA:1495
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th fing...	OMIM:614701
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ...	OMIM:300863
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Tapered finger, Bulbous...	OMIM:613870
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Patent foramen ovale, Patent duc...	OMIM:618652
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Holoprosencephaly	Anophthalmia, Abnormality of the spleen, Deep philtrum, Depressed nasal ridge, Absent nares, Gast...	ORPHA:2162
17P13.3 Microduplication Syndrome	Wide nose, Congenital hip dislocation, High palate, Narrow mouth, Clinodactyly of the 5th finger,...	ORPHA:217385
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Esophageal atresia, Anosmia, Tracheoesophageal fis...	ORPHA:3157
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Vater/Vacterl Association	Syndactyly, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia, Absent r...	OMIM:192350
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventric...	OMIM:264480
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A...	OMIM:619148
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Micrognathia, Depressed nasal ridge, Cleft palate, Hypoplas...	ORPHA:1727
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Cleft palate, Malar flattening, Short no...	ORPHA:2145
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th...	ORPHA:2631
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower lip vermilio...	OMIM:249670
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, ...	OMIM:217980
White Forelock With Malformations	Atrial septal defect, White forelock, Poliosis	OMIM:277740
Hereditary Mucoepithelial Dysplasia	Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Single transverse palmar ...	OMIM:618950
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Anteverted nares, Bicuspid aortic valve, Cleft upper lip, Duplication o...	OMIM:243310
Pentasomy X	Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Wide nasal bridge, S...	ORPHA:11
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia,...	ORPHA:171839
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Orofa...	ORPHA:1988
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo...	OMIM:611561
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cl...	OMIM:618571
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Hypoplasia of the maxilla, Depressed nasal ridge, Tracheal calcification, ...	ORPHA:79345
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Atria...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Atria...	ORPHA:353277
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Epiphyseal stippling, M...	ORPHA:1914
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Depressed nasal bridge, A...	ORPHA:1327
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Depressed nasal bridge, Ant...	OMIM:616331
Fanconi Anemia, Complementation Group S	Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped nasal alae,...	OMIM:617883
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Microdontia, Micrognathia, Non-midline cleft lip, Cle...	ORPHA:1915
Retinitis Pigmentosa 89	Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatospl...	OMIM:618955
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Prominent nasal bridge, Broad nasal ti...	OMIM:613544
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Cario...	OMIM:617102
Aase-Smith Syndrome	Camptodactyly of finger, Trismus, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinov...	ORPHA:916
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Micrognathia, Patent...	ORPHA:3304
Stickler Syndrome, Type Ii	Arachnodactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Long fingers, High, narro...	OMIM:604841
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Micrognathia, Cleft palate, Tooth agenesis, Abnormal aortic morphology...	ORPHA:1166
Phaver Syndrome	Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Ventricular septal defect,...	ORPHA:2876
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Carious teeth, Deep philtrum, Abnormality of the elbow, Thick lower lip vermili...	ORPHA:2701
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Cleft palate, Mitral valve prolapse, Abnormal epiphysis morphology, Lo...	ORPHA:90653
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, High palate, Long philtrum, Short nose, Anemia	ORPHA:2598
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular sept...	OMIM:145420
Char Syndrome	Toe syndactyly, Depressed nasal bridge, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, V...	ORPHA:46627
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Anteverted nares, Prominent nasal bridge, Arachnodactyly, Dental crowding, ...	ORPHA:251019
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata...	ORPHA:950
Peho-Like Syndrome	Short nose, Retrognathia, Open mouth, Tapered finger	OMIM:617507
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum	ORPHA:46
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asplenia, Thrombocytopen...	OMIM:185070
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Dental crowding, Gastroesophageal reflux, Atrial septal defect, Broad hall...	ORPHA:353281
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine...	ORPHA:364577
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Small hand, Bilateral cle...	OMIM:619339
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Holoprosencephaly 9	Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft...	OMIM:610829
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Abnormal dental p...	ORPHA:2791
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Thrombocytopenia, Neutropenia, Microphthalmia, Leukemia, Anemia	OMIM:614082
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Short palm, M...	ORPHA:93328
Burn-Mckeown Syndrome	Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underd...	OMIM:608572
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preax...	ORPHA:1120
Townes-Brocks Syndrome 1	Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defect, 2-4 finger ...	OMIM:107480
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, High palate...	OMIM:614846
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia, Lymphadenopathy	ORPHA:142
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Lympho...	ORPHA:210548
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, ...	OMIM:600987
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Pulmo...	OMIM:616894
Warburg Micro Syndrome 1	Overlapping toe, Anteverted nares, Micrognathia, Wide nasal bridge, Thin vermilion border, Narrow...	OMIM:600118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Micrognathia, Talipes equinovarus, Prominent nose	OMIM:616171
Renal Agenesis, Bilateral	Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomeli...	ORPHA:1848
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, ...	ORPHA:250989
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Nasal polyposis, Abnormal atrial arrangement, Intestinal malrotation, Sit...	ORPHA:244
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Hepatome...	ORPHA:1775
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Monosomy 18Q	Mandibular prognathia, Abnormal palmar dermatoglyphics, Prominent nose, Secundum atrial septal de...	ORPHA:1600
Lowry-Maclean Syndrome	Choanal atresia, Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia...	ORPHA:2409
Sirenomelia	Absence of the sacrum, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, ...	ORPHA:3169
Mirage Syndrome	Rocker bottom foot, Radial club hand, Esophageal stricture, Thrombocytopenia, Patent ductus arter...	OMIM:617053
Subaortic Stenosis-Short Stature Syndrome	Anteverted nares, Micrognathia, Biliary tract abnormality, Membranous subvalvular aortic stenosis...	ORPHA:3191
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Abnormality of the dentition, Pr...	ORPHA:627
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ...	ORPHA:1458
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Gillespie Syndrome	Hypoplasia of the iris, Truncus arteriosus, Aniridia	OMIM:206700
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Hamamy Syndrome	Microcytic anemia, Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th finge...	OMIM:611174
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,...	OMIM:601680
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ...	OMIM:614976
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Arachnodactyly, Broad nasal tip, Cleft lip, Cleft palate, Large hands	OMIM:300263
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Arachnodactyly, Dental crowding, Narrow mouth, Mitral valve prolapse, Long philtrum, Bilateral ta...	OMIM:615539
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Hypoplasia of the primary te...	OMIM:257850
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Asplenia, Cleft lip, Cleft palate, Abdominal situs inver...	OMIM:619123
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomel...	ORPHA:93329
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Intestinal malrotati...	OMIM:600001
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g...	OMIM:306955
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Meckel Syndrome, Type 2	Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd...	OMIM:603194
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Atrial septal defect,...	OMIM:164200
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Wide nasal bridge, Broad philtrum, ...	OMIM:618577
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Iliac crest serration, Metaphyse...	OMIM:613320
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Enlarged epiphyses, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Pierre-Robin ...	OMIM:184840
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef...	ORPHA:79113
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Single transverse palmar crease, Broad nasal tip, Clinodactyly, Recurrent ...	ORPHA:391372
Tetraploidy	Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the thymus, Short philtrum, A...	ORPHA:3305
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D...	OMIM:614744
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malocclusion, Wide ...	OMIM:618727
Even-Plus Syndrome	Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, High palate, Hypodontia, Atrial sep...	OMIM:616854
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Anosmia, Singl...	ORPHA:2250
Cat Eye Syndrome	Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis...	OMIM:115470
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar crea...	OMIM:613443
Cerebrooculofacioskeletal Syndrome 4	Prominent nasal bridge, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted thumb...	OMIM:610758
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Abnormal ...	ORPHA:1507
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,...	ORPHA:439822
Fibrochondrogenesis 2	Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypop...	OMIM:614524
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Ventricular septal defect, Abnormality of the dentition, Deep philtru...	ORPHA:251038
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Malar flattening, Short nose, Retrognathia, Open mouth	OMIM:613670
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Clinod...	ORPHA:193
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu...	ORPHA:284169
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cle...	ORPHA:217017
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Broad hallux, Ag...	OMIM:614749
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Atrial septal defect, A...	OMIM:311900
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ...	ORPHA:261243
Joubert Syndrome 10	Deep philtrum, Thick vermilion border, Wide nasal bridge, Postaxial polydactyly	OMIM:300804
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh...	OMIM:300244
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ...	OMIM:618914
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Wide nasal bridge, Flattened epiphy...	OMIM:607131
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morpholog...	ORPHA:974
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar cr...	OMIM:614105
Pallister-Hall Syndrome	Anteriorly placed anus, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly, Depre...	OMIM:146510
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Craniofacioskeletal Syndrome	Atrial septal defect, Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Ch...	OMIM:300712
20Q13.33 Microdeletion Syndrome	Hallux valgus, Smooth philtrum, Dilation of Virchow-Robin spaces, Tapered finger, Bulbous nose, A...	ORPHA:261311
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial pol...	OMIM:619721
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger...	OMIM:212720
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ...	ORPHA:457395
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, M...	ORPHA:2872
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ventricular septal defect,...	ORPHA:513456
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Broad nasal tip, Cleft hard palate, Micrognathia...	ORPHA:166016
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph...	OMIM:154780
Lambotte Syndrome	Ventricular septal defect, Narrow mouth, Preaxial foot polydactyly, Retrognathia, Convex nasal ridge	OMIM:245552
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial...	ORPHA:1553
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no...	ORPHA:1906
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Mosaic Trisomy 9	Micromelia, Micrognathia, Asplenia, Finger clinodactyly, High palate, Endocardial fibroelastosis,...	ORPHA:99776
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the maxilla, High, na...	ORPHA:1101
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Oligodontia, Prominent palatine ridges, Cau...	OMIM:272950
Maternal Phenylketonuria	Anteverted nares, Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Eso...	ORPHA:2209
Al-Raqad Syndrome	Thin upper lip vermilion, Sandal gap, Narrow mouth, Atrial septal defect, Short nose, Brachydactyly	OMIM:616459
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p...	ORPHA:2429
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose, Long philtrum	OMIM:125700
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Antever...	OMIM:612530
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ...	ORPHA:251014
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Monosomy 18P	Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Short ...	ORPHA:1598
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Underdeveloped nasal alae, Cleft upper lip, Short metatarsal, Wide nasal b...	OMIM:612916
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Anteverted nares, Micrognathia, Abnormal cardiac ventricle morphology, Pat...	ORPHA:2306
Johnson Neuroectodermal Syndrome	Choanal atresia, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, Cleft palate, H...	ORPHA:2316
Cornelia De Lange Syndrome 5	Toe syndactyly, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Proximal placem...	OMIM:300882
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Aplasia/Hypoplasia of the distal phalanges o...	ORPHA:1234
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Choanal atresia, Optic nerve hypoplasia, Cleft upper lip, H...	OMIM:607597
Wt Limb-Blood Syndrome	Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Thrombo...	OMIM:194350
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum...	OMIM:614091
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Optic nerve hypoplasia, Short philtrum, Short nose, Open mouth	ORPHA:228384
Kallmann Syndrome-Heart Disease Syndrome	Short lingual frenulum, Partial anosmia, Total anosmia, Anomalous origin of left coronary artery ...	ORPHA:2326
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Rectal ...	ORPHA:904
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno...	OMIM:251230
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Aortic valve prolapse, Anteverted nares, Ventricular septal defect,...	OMIM:619980
Marden-Walker Syndrome	Arachnodactyly, Anteverted nares, Dextrocardia, Micrognathia, High, narrow palate, Narrow mouth, ...	OMIM:248700
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly	OMIM:615982
Down Syndrome	Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Short palm, Atriov...	OMIM:190685
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, Micromelia, Accessory oral fren...	OMIM:616546
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, T...	OMIM:249620
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Anteverted nares, Micrognathia, Ulnar bowing, S...	OMIM:619135
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Underdeveloped nasal alae, ...	ORPHA:264200
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial abse...	ORPHA:476126
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Microcephaly-Capillary Malformation Syndrome	Wide nose, Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Right ventricular ...	OMIM:614261
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:2091
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Depressed nasal bridge, Sandal gap, Micrognathia, Elbow dislocation, T...	OMIM:108721
Gaucher Disease, Type Ii	Hepatomegaly, Double aortic arch, Splenomegaly, Trismus, Anemia, Gastroesophageal reflux, Dysphag...	OMIM:230900
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Tapered finger, Abnormality of the dentition, Patent duc...	ORPHA:65286
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Depressed nasal bridge, Single transverse palmar crease, Exaggerated cupid's bow, Cleft lip, Bulb...	OMIM:620098
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Abnormal heart ...	OMIM:239800
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max...	OMIM:302350
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Lowry-Maclean Syndrome	Delayed eruption of teeth, Convex nasal ridge, Cleft palate, Abnormal heart morphology	OMIM:600252
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger...	OMIM:300558
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, P...	OMIM:228520
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Prominent nose, Micrognathia, Cleft lip, Bulbou...	OMIM:301022
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Anophthalmia, Dental crowding, Cutaneous finger ...	OMIM:219000
Meckel Syndrome, Type 4	Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Cleft palate, Bi...	OMIM:611134
Feingold Syndrome Type 1	Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2n...	ORPHA:391641
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Convex nasal ridge, Micrognathia, Tibial bowing, High palate, Short philtrum, Mi...	ORPHA:251028
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger synd...	ORPHA:2710
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Hip contracture, Microretrognathia, Coxa valga, Carious teeth, Micrognathi...	OMIM:618363
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Prominent nose, Micrognathia,...	OMIM:201170
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Shorten...	OMIM:615716
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Anteverted nares, Fractured radius, Ventricular septal defect, Decreased fibular dia...	OMIM:616897
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Bronchiectasis, Abno...	ORPHA:980
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Abse...	ORPHA:3186
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Metatarsus adductus, Short thumb, Hig...	ORPHA:436003
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum	ORPHA:438178
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatars...	OMIM:614613
Cockayne Syndrome Type 2	Mandibular prognathia, Hepatomegaly, Anophthalmia, Delayed eruption of primary teeth, Widely spac...	ORPHA:90322
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Chromosome 3Q29 Duplication Syndrome	Abnormally large globe, Bulbous nose, Wide nasal bridge, Multiple palmar creases, Short nose	OMIM:611936
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnormal metacarpal mo...	ORPHA:166100
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, Buphthalmos, ...	OMIM:618005
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Tracheal stenosis, Patent ductus arteriosus, ...	ORPHA:1790
Joubert Syndrome 40	Depressed nasal bridge, Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Prominent nasal bridge, Dextrocardia, Absent t...	ORPHA:96097
Ritscher-Schinzel Syndrome 1	Syndactyly, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Missing ribs, Double...	OMIM:220210
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Single transverse palmar c...	OMIM:305400
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A...	ORPHA:2750
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Short nose, Micrognathia	ORPHA:1514
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Prominent nasal bridge, Rocker bottom foot, Prominent nose, Coxa valga...	OMIM:214150
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low...	OMIM:619854
Joubert Syndrome 37	Hepatomegaly, Wide nose, Anteverted nares, Postaxial polydactyly, Wide nasal bridge, High palate,...	OMIM:619185
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Dental crowding, Abnormality of ...	ORPHA:776
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality	OMIM:617519
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyl...	ORPHA:1596
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Ventricular septal defect, Postaxial poly...	OMIM:174300
Coffin-Siris Syndrome 6	Depressed nasal bridge, Broad nasal tip, Micrognathia, High, narrow palate, Deep philtrum, Cleft ...	OMIM:617808
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth...	OMIM:246560
Arterial Tortuosity Syndrome	Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia...	ORPHA:3342
Congenital Varicella Syndrome	Microphthalmia, Micromelia	ORPHA:291
Crisponi/Cold-Induced Sweating Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Tapered finger, Carious teeth, Narrow mouth,...	OMIM:272430
Miller-Dieker Syndrome	Clinodactyly of the 5th finger, Abnormal upper lip morphology, Short nose, Anteverted nares	ORPHA:531
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Prominent nose, Micrognathia, Delayed epiphyseal oss...	OMIM:210710
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Coarctation of aorta	OMIM:140850
Cerebrooculofacioskeletal Syndrome 2	Rocker bottom foot, Camptodactyly of finger, Prominent nose, Micrognathia, Microphthalmia, Convex...	OMIM:610756
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa...	OMIM:619472
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Brachydactyly	OMIM:618618
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Abnorm...	ORPHA:3121
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b...	ORPHA:1225
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Bone marrow hypocellularity	OMIM:609054
Intellectual Developmental Disorder, Autosomal Dominant 21	Single transverse palmar crease, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Th...	OMIM:615502
Polysyndactyly With Cardiac Malformation	Syndactyly, Anteverted nares, Ventricular septal defect, Preaxial hand polydactyly, Duplication o...	OMIM:263630
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Ventricular septal defect, Micrognathia, Preaxial hand polyda...	OMIM:236680
Seckel Syndrome 1	Dental crowding, Single transverse palmar crease, Abnormal finger flexion crease, Prominent nose,...	OMIM:210600
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca...	OMIM:147891
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Atrial septal defect, Syndactyly, Depressed nasal...	ORPHA:97360
Focal Dermal Hypoplasia	Cleft ala nasi, Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, ...	OMIM:305600
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Matthew-Wood Syndrome	Anophthalmia, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology, ...	ORPHA:2470
Smith-Magenis Syndrome	Mandibular prognathia, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Tented upper lip...	ORPHA:819
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha...	OMIM:248450
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Wide nose, Exaggerated cupid's bow, Camptodactyly of finger, Underdeveloped na...	ORPHA:284160
Atelosteogenesis, Type Ii	Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof...	OMIM:256050
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Meckel Syndrome, Type 1	Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malformation of the hepat...	OMIM:249000
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Ventricular septal defect, Broad hallux, Hamartoma of tongue, Mic...	OMIM:615948
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a...	OMIM:608978
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Missing ribs, Hypopl...	OMIM:184705
Nanophthalmos	Microphthalmia	ORPHA:35612
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Hepatomegaly, Tented upper lip vermilion, Anteverted nares, Overlapping toe,...	OMIM:619383
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Holt-Oram Syndrome	Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen...	ORPHA:392
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Tapered finger, Micrognathia, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of teeth...	OMIM:620250
Meckel Syndrome, Type 3	Hepatomegaly, Malformation of the hepatic ductal plate, Postaxial hand polydactyly, Cleft palate,...	OMIM:607361
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum...	ORPHA:314655
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Joubert Syndrome 14	Tented upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Postaxial polydact...	OMIM:614424
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Depressed nasal bridge, Overlapping toe, Prominent nose, Microdontia...	OMIM:300895
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d...	ORPHA:163979
Opsismodysplasia	Hepatomegaly, Depressed nasal bridge, Tapered finger, Splenomegaly, Squared iliac bones, Hypoplas...	ORPHA:2746
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Hepatic fibrosis, Microretrognathia, Syndactyly, Hamartoma of tong...	OMIM:311200
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Abnormality of the dentition, Carious teeth,...	ORPHA:1786
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Chromosome 9P Deletion Syndrome	Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Long toe, De...	OMIM:158170
Weiss-Kruszka Syndrome	Anteverted nares, Single transverse palmar crease, Proximal placement of thumb, Bicuspid aortic v...	OMIM:618619
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Short nose, Depressed nasal bridge, Hypoplastic ischia	OMIM:616910
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Thin upper lip vermilion, Anteverted nares, Ventricular septal defect, Bulb...	OMIM:220500
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperextensibility of the finger joints, Thin upper lip vermilion, Arachnoda...	OMIM:309520
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i...	OMIM:615994
Alg3-Cdg	Abnormality of the gastrointestinal tract, Abnormality of the nose, Metaphyseal chondrodysplasia,...	ORPHA:79321
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, High palate...	OMIM:268305
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose, Hip dysplasia	OMIM:618379
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Bulbous nose, Patent ductus arteriosus, Orofac...	ORPHA:2328
Oculoauriculofrontonasal Syndrome	Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Bifid nasal tip, Cleft lip, Micr...	ORPHA:398156
Achondrogenesis Type 1A	Anteverted nares, Micromelia, Micrognathia, Short foot, Short palm, Short nose, Long philtrum	ORPHA:93299
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, Ventricular septal...	OMIM:616449
Atelis Syndrome 2	Single transverse palmar crease, Prominent nose, Diastema, Thrombocytopenia, Bulbous nose, Thick ...	OMIM:620185
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue, Abnormal heart morphology	DECIPHER:52
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Aplasia of the pectoralis major...	ORPHA:1358
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Micrognathia, Short foot, Talipes equinovarus, Long philtrum, Short...	ORPHA:93298
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
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, ...	ORPHA:1295
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,...	ORPHA:306542
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares...	ORPHA:50945
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Anteverted nares, Postaxial polydactyly,...	OMIM:619879
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Pyloric stenosis, Small hand, ...	ORPHA:96184
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ...	ORPHA:2557
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia...	ORPHA:989
Walker-Warburg Syndrome	Anophthalmia, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Microphthalmia, Bifid...	ORPHA:899
Down Syndrome	Brachydactyly, Depressed nasal bridge, Sandal gap, Aganglionic megacolon, Protruding tongue, Abno...	ORPHA:870
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Ventricular septal defect, Apl...	ORPHA:2256
Joubert Syndrome 22	Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly	OMIM:615665
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Depressed nasal bridge, Single transverse palmar crease, Rhizomelia, Ventri...	OMIM:614114
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Overlapping toe, Underdeveloped nasal alae, Carious teeth, Micrognathia, Wide n...	OMIM:613026
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Abnormal morphology o...	ORPHA:1307
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow palate, Femoral b...	OMIM:617022
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, T lymphocytopenia, Narrow greater sciatic notch,...	ORPHA:508533
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasi...	ORPHA:141099
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Frontonasal Dysplasia 3	Microphthalmia, Wide nasal bridge, Cleft palate, Underdeveloped nasal alae	OMIM:613456
Autosomal Recessive Amelia	Micrognathia, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septum morphology, Amelia ...	ORPHA:1027
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Micrognath...	OMIM:242860
Distal Deletion 10Q	Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Shor...	ORPHA:96148
Tarp Syndrome	Extramedullary hematopoiesis, Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial...	ORPHA:2886
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl...	OMIM:119800
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Thin upper lip vermilion, Micrognathia, Wide mouth, Gastroesophageal reflux, Short ...	OMIM:615419
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Tracheobronchomalacia, Atr...	OMIM:613458
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Wide nose, Anteverted nares, Down-sloping shoulders, Deviation of the 5...	ORPHA:391408
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, High palate, Wrist flexion contracture, Ulnar deviation o...	OMIM:193700
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Adducted thumb, Wide nasal bridge,...	ORPHA:1147
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar synostosis, Atrial...	ORPHA:921
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydactyly, Cleft palate, Micropht...	ORPHA:85284
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bifid nasal tip, Unilateral microphthalmos, Mitral valve prolapse, Bila...	OMIM:618874
Igg4-Related Aortitis	Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol...	ORPHA:449400
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl...	OMIM:605376
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Underdeveloped nasal alae, Micrognathia, W...	OMIM:614230
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Diabetic Embryopathy	Ventricular septal defect, Micrognathia, Abnormality of the pancreas, Tetralogy of Fallot, Cleft ...	ORPHA:1926
Geleophysic Dysplasia 1	Hepatomegaly, Anteverted nares, Camptodactyly of finger, Mitral stenosis, Coxa valga, Tricuspid s...	OMIM:231050
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Developmental Delay With Or Without Dysmorphic Facies And Autism	Micrognathia, 2-3 toe cutaneous syndactyly, Laryngotracheomalacia, Short philtrum, Clinodactyly o...	OMIM:618454
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal def...	ORPHA:1908
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Small hand, Short foot, Bifid uvu...	OMIM:241410
Griscelli Syndrome Type 1	Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation	ORPHA:79476
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High p...	ORPHA:93307
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Prolonged n...	OMIM:618828
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Neutropenia, Genu ...	OMIM:271510
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Ventricular septal defect, Micromelia, Postaxial polydactyly,...	OMIM:617895
Seckel Syndrome 5	11 pairs of ribs, Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Cleft palate, O...	OMIM:613823
Prader-Willi Syndrome Due To Translocation	Prominent nose, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the 5th f...	ORPHA:177907
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph...	ORPHA:884
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ...	ORPHA:1791
Trisomy 8P	Short fourth metatarsal, Single transverse palmar crease, Abnormal atrioventricular connection, A...	ORPHA:264450
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Depressed nasal bridge, Pericardial effusion, Hip dislocation, Hepatosplenomegaly, ...	OMIM:608776
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Micr...	OMIM:222765
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Missing ribs, Orofaci...	ORPHA:3301
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Depressed nasal bridge, Choanal atresia, Postaxial polydactyly, Prominent nose, Tapered finger, A...	OMIM:300968
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Pericardial effusion, Cu...	OMIM:617822
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hyperinsulinemia, Hypopigmentation of the skin, Hypoglycemic seizures	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hyperinsulinemia, Hypopigmentation of the skin, Hypoglycemic seizures	ORPHA:71526
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ...	OMIM:601812
Digeorge Syndrome	Micrognathia, High, narrow palate, Abnormal thymus morphology, Gastroesophageal reflux, High pala...	OMIM:188400
Myoclonic-Astatic Epilepsy	Syndactyly, Thin upper lip vermilion, Anteverted nares, Thick lower lip vermilion, Wide nasal bri...	ORPHA:1942
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Atrial ...	OMIM:139210
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo...	ORPHA:56304
Baker-Gordon Syndrome	Thin upper lip vermilion, Gastroesophageal reflux, Prominent nasal tip, Short nose, Smooth philtrum	OMIM:618218
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L...	OMIM:615866
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, High palate, Clinodac...	ORPHA:3103
Septooptic Dysplasia	Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger	OMIM:182230
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Cleft upper lip, Wide nasal bridge, Cleft palate, Wide m...	OMIM:201180
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Postaxial polydactyly, Splenomegaly, Paten...	OMIM:614576
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia, Anal atresia	ORPHA:195
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Smooth tongue, Shor...	OMIM:601559
Nanophthalmos 4	Microphthalmia	OMIM:615972
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala...	OMIM:614069
Recombinant 8 Syndrome	Atrial septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Ventricu...	ORPHA:96167
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate	OMIM:610125
Nephrotic Syndrome, Type 11	Ventricular septal defect, Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb ...	OMIM:616730
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Depressed nasal bridge, Postaxial polydactyly, Accessory oral fre...	OMIM:617088
Achondrogenesis	Anteverted nares, Micromelia, Micrognathia, Long philtrum, Short nose	ORPHA:932
Tetrasomy 18P	Large hands, Thin vermilion border, Narrow mouth, Short nose, Achalasia, Long philtrum	ORPHA:3307
Mend Syndrome	Broad hallux, Prominent nasal bridge, Overlapping toe, Asymmetry of the mouth, Micrognathia, Long...	ORPHA:401973
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Thrombocytopenia, Tracheoesop...	ORPHA:537
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Cleft palate, Femoral...	ORPHA:83
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Congenital Fibrinogen Deficiency	Splenic rupture, Clubbing of fingers, Gingival bleeding, Left ventricular hypertrophy, Microphtha...	ORPHA:335
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognat...	OMIM:164745
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Malar prominence, Microphthalmia, Camptodactyly of finger, Micrognathia	ORPHA:48431
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Single transverse palmar c...	OMIM:247200
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Choanal...	OMIM:241310
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid nasal tip, Abno...	OMIM:258865
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Anal stenosis, Ventricular septal defect, Choanal atresia, Bowing of the l...	OMIM:617063
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Microphthalmia, Anemia	ORPHA:858
Desmosterolosis	Depressed nasal bridge, Intestinal malrotation, Micromelia, Abnormality of the nose, Metatarsus a...	ORPHA:35107
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Abnormal tongue morphology, Gastrointestinal dysmotility, Abnormal heart morpho...	ORPHA:531151
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Gastroes...	OMIM:301040
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Thin upper lip vermilion, Congenital hip dislocation, Depressed nasal bridg...	OMIM:244450
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia, Retrognathia	OMIM:614583
Osteoglophonic Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate...	OMIM:166250
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Abnormally large globe, Micrognathia, Hypoplastic pubic bone, Gingiv...	OMIM:614592
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Micrognathia, Hypoplasia ...	ORPHA:560
16P13.11 Microdeletion Syndrome	Atrial septal defect, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Camptod...	ORPHA:261236
Toriello-Carey Syndrome	Aganglionic megacolon, Micrognathia, Patent ductus arteriosus, Cleft palate, Coarctation of aorta...	ORPHA:3338
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Abnormality of th...	ORPHA:363528
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Anteverted nares, Protruding tongue, Patent ductus arteriosus, Alveola...	OMIM:612938
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,...	OMIM:141400
Fraser Syndrome	Finger syndactyly, Anal stenosis, Cleft ala nasi, Depressed nasal bridge, Toe syndactyly, Anophth...	ORPHA:2052
Adams-Oliver Syndrome 2	Depressed nasal bridge, Single transverse palmar crease, Micrognathia, Bulbous nose, Absent dista...	OMIM:614219
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Gastroesophageal reflux, Finger syndacty...	ORPHA:2092
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres...	OMIM:270100
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Hip dysplasia, Hypertrophic cardiomyopathy, Short nose	OMIM:617183
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Cleft palate, Short distal phala...	OMIM:181180
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th...	OMIM:616145
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Dental crowding, Prominent nasal bridge, Oral-pharyngeal dysphagia, Long nose, ...	OMIM:619184
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Clinodactyly of the 5th fin...	OMIM:167730
Lathosterolosis	Bilobate gallbladder, Micrognathia, High palate, Thick upper lip vermilion, Anteverted nares, Inc...	OMIM:607330
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Missing rib...	OMIM:206900
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Prominent nasal bridge, ...	ORPHA:313781
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bow...	OMIM:108720
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist...	OMIM:302950
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prominent superficial veins, Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of...	OMIM:608612
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Short nose, High palate, Micrognathia	OMIM:615042
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty...	OMIM:620072
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Agenesis of permanent teeth, Anemia, Bone marrow hypocellularity,...	OMIM:617244
Trisomy 18	Microretrognathia, Ventricular septal defect, Choanal atresia, Camptodactyly of finger, Esophagea...	ORPHA:3380
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper li...	OMIM:109400
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis, Postaxial polydactyly	OMIM:213010
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Large tarsal bones, Micrognathia,...	OMIM:215150
Kleefstra Syndrome	Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic val...	ORPHA:261494
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Aplasia/Hypoplasia of the radius, Tracheoesophageal fistula, Intestinal malrotation, Anal atresia	ORPHA:2973
Penile Agenesis	Ventricular septal defect, Depressed nasal bridge, Rectal fistula, Anorectal anomaly, Tracheoesop...	ORPHA:49
19P13.13 Microdeletion Syndrome	Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ...	ORPHA:357001
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Wide nasal bridge, 2-3 toe syndactyly, H...	OMIM:218000
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Prominent nose, Micrognathia, Depressed nasal ridge, Downturned corners of...	OMIM:156200
Trigonocephaly 1	High, narrow palate, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum	OMIM:190440
Frontorhiny	Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi...	ORPHA:391474
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Griscelli Syndrome Type 2	Hepatomegaly, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Premature...	ORPHA:79477
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft,...	ORPHA:221120
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia, Low han...	OMIM:619318
Triploidy	Finger syndactyly, Hepatomegaly, Intestinal malrotation, Micrognathia, Abnormality of the pancrea...	ORPHA:3376
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Anteverted nares, Limited elbow movement, Micrognathi...	OMIM:615065
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Micrognathia, Recurren...	ORPHA:3078
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Ventricular septal defect, Microg...	OMIM:618348
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, High, narrow palate, Facial hyperostosis, Submucous clef...	ORPHA:2780
Fryns Syndrome	Tented upper lip vermilion, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal ...	OMIM:229850
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Trisomy 17P	Wide nose, Tapered finger, Prominent nose, Micrognathia, Patent ductus arteriosus, Orofacial clef...	ORPHA:261290
3Mc Syndrome 3	Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly	OMIM:248340
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Dextrocardia, Underdeveloped nasal alae, Abnormality of the dentition,...	ORPHA:2315
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,...	ORPHA:96334
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Micrognathia, Long fingers, Cleft palate, High palate, Narrow mouth, Micr...	OMIM:156610
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Limited elbow movement, Proximal placemen...	OMIM:610759
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Microdontia, Cleft palate, Hypoplasia of teeth, Widely spaced te...	ORPHA:2728
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Single transverse palmar crease, High palate, Microphthalmia, Hypertrophic cardiomy...	OMIM:619053
Rere-Related Neurodevelopmental Syndrome	Anteverted nares, Choanal atresia, Ventricular septal defect, Micrognathia, Abnormal heart morpho...	ORPHA:494344
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia	OMIM:620195
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hip dysplasia, Hypertrophic cardiomy...	ORPHA:496790
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, M...	OMIM:613610
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Zimmermann-Laband Syndrome	Hallux valgus, Hepatomegaly, Wide nose, Micrognathia, Splenomegaly, Bulbous nose, Supernumerary t...	ORPHA:3473
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Cardiac-Urogenital Syndrome	Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Bronchomalacia, Coronary si...	OMIM:618280
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Gastroesophageal reflux, Clinodactyly of t...	OMIM:616580
Genitopalatocardiac Syndrome	Micrognathia, Postaxial hand polydactyly, Non-midline cleft lip, Abnormal mesentery morphology, W...	ORPHA:2075
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou...	OMIM:225060
Nicolaides-Baraitser Syndrome	Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P...	OMIM:601358
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Anteverted nar...	OMIM:608156
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Broad ...	OMIM:152950
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph...	ORPHA:536471
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ...	OMIM:612394
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Micrognathia, Retrognathia, Dysphagia, Short nose, Meckel diverticulum	ORPHA:163961
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Postaxial polydactyly, Malformation of the hepatic ductal plate, Pos...	OMIM:614175
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Short nose, Open mouth	OMIM:300143
Jacobsen Syndrome	Broad columella, Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, A...	ORPHA:2308
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Dental crowding, Narrow nasal ridge, Underdeveloped nasal alae, Vascular dilat...	OMIM:618343
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose	OMIM:300581
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge...	OMIM:615485
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Leukodystrophy, Hypomyelinating, 10	Arachnodactyly, Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Malar flatt...	OMIM:616420
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Chops Syndrome	Anteverted nares, Ventricular septal defect, High, narrow palate, Splenomegaly, Patent ductus art...	OMIM:616368
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Accessory spleen, Rhizomelia, Arachnodactyly, Depressed ...	ORPHA:3379
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Metaphyseal widening, High palate, Microdontia, Arachnodactyly, Depressed nasal bri...	ORPHA:536467
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Wide nose, Protruding tongue, Secundum atrial septal defect, Splenomegaly, Jaundice...	OMIM:608779
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Toluene Embryopathy	Micrognathia, Tapered finger, Thin vermilion border, Hypoplasia of the zygomatic bone, Short nose...	ORPHA:1920
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxil...	ORPHA:245
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Atrial septal defect, Anal stenosis, Depressed nasal bridge, Anteverted nares, Micrognathia, Open...	OMIM:614080
Distal Triplication 15Q	Arachnodactyly, Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart m...	ORPHA:314588
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate...	ORPHA:544254
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Lip pit, Intestinal m...	OMIM:601707
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Coxa valga, Microgna...	OMIM:619833
Fetal Hydantoin Syndrome	Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Triphalangeal thumb...	ORPHA:1912
Omodysplasia 1	Short humerus, Depressed nasal bridge, Rhizomelia, Increased fibular diameter, Ventricular septal...	OMIM:258315
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Increased density of lo...	OMIM:305620
Trisomy 10P	Micrognathia, Orofacial cleft, High palate, Gastroesophageal reflux, Abnormal hip joint morpholog...	ORPHA:171929
Coffin-Siris Syndrome 4	Prominent interphalangeal joints, Short philtrum, Atrial septal defect, Pulmonary artery atresia,...	OMIM:614609
Distal Deletion 6P	Atrial septal defect, Wide nose, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal a...	ORPHA:96125
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri...	OMIM:614207
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, High palate, Gastroesophageal reflux, Atrial septal defect, Patent fo...	ORPHA:280633
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Gastroesophage...	OMIM:301044
Contractural Arachnodactyly, Congenital	Hip contracture, Bowing of the long bones, Arachnodactyly, Bicuspid aortic valve, Ventricular sep...	OMIM:121050
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair, Abnormal heart morphology	ORPHA:1067
Kabuki Syndrome 2	Atrial septal defect, Natal tooth, Broad nasal tip, Micrognathia, Lower lip pit, Hip dislocation,...	OMIM:300867
Peho Syndrome	Tented upper lip vermilion, Tapered finger, Short nose, Retrognathia, Open mouth	OMIM:260565
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Biemond Syndrome Ii	Preaxial hand polydactyly	OMIM:210350
Schilbach-Rott Syndrome	Prominent nose, Long nose, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palat...	OMIM:164220
Hemochromatosis, Type 1	Hepatomegaly, Alopecia, Diabetes mellitus, Cardiomegaly, Splenomegaly, Increased circulating ferr...	OMIM:235200
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Tapered...	OMIM:618430
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, Tented upper ...	OMIM:616723
Holoprosencephaly-Postaxial Polydactyly Syndrome	Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Postaxial hand polydactyly, O...	ORPHA:2166
Agnathia-Otocephaly Complex	Wide nose, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, A...	OMIM:202650
Hallermann-Streiff Syndrome	Natal tooth, Choanal atresia, Tracheomalacia, Underdeveloped nasal alae, Abnormality of the denti...	ORPHA:2108
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr...	ORPHA:280200
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Diamond-Blackfan Anemia 8	Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose,...	OMIM:612563
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Desmosterolosis	Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Patent ductus arteriosus, A...	OMIM:602398
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Mandibular prognathia, Congenital hip dislocation, Depressed nasal bri...	OMIM:268400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancrea...	OMIM:263520
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Jacobsen Syndrome	U-Shaped upper lip vermilion, Atrial septal defect, Depressed nasal bridge, Anteverted nares, Ven...	OMIM:147791
Cockayne Syndrome Type 1	Mandibular prognathia, Hepatomegaly, Anophthalmia, Delayed eruption of primary teeth, Abnormality...	ORPHA:90321
Mend Syndrome	Microretrognathia, Broad hallux, Prominent nasal bridge, Overlapping toe, Micrognathia, Long fing...	OMIM:300960
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Thin vermilion border, C...	OMIM:610015
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, I...	ORPHA:457193
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Congenital hip dislocation, Depressed nasal bridge, Underdeveloped nasal a...	OMIM:616007
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Abnormally large globe, Cardiomegaly, Micrognathia, Shoulder dislocation, ...	OMIM:245600
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Micr...	OMIM:235255
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, O...	OMIM:616638
Glass Syndrome	Dental crowding, Anterior tibial bowing, Conical tooth, Long nose, Micrognathia, Oligodontia, Hig...	OMIM:612313
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Atrial septal defect, Wide nose, Stomach cancer, Micrognathia, Depressed na...	ORPHA:1052
Refsum Disease	Short metacarpal, Splenomegaly, Anosmia, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology...	ORPHA:773
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Microdontia, Atrial septal defect, Pate...	OMIM:620005
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Micrognathia, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly...	ORPHA:397590
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Prolidase Deficiency	Hepatomegaly, Depressed nasal bridge, Micrognathia, Thrombocytopenia, Splenomegaly, Concave nasal...	OMIM:170100
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:609192
Tetraamelia Syndrome 1	Choanal atresia, Cleft upper lip, Asplenia, Micrognathia, Single naris, Cleft palate, Hypoplastic...	OMIM:273395
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, High palate, Short philtrum, Atrial septal defect, Clinodact...	OMIM:309500
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Gastroe...	OMIM:113620
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Wide nose, Arachnodactyly, Prominent nasal bridge, Broad hallux, Prominent nose, Dental malocclus...	OMIM:601552
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Cardiomyopathy, Short philtrum, Prolonged neonatal jaundice,...	OMIM:618437
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Frank-Ter Haar Syndrome	Abnormally large globe, Secundum atrial septal defect, Micrognathia, High palate, Short palm, Atr...	OMIM:249420
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrow...	ORPHA:561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Microphthalmia, Cardiomyopathy	OMIM:613155
Warburg Micro Syndrome 3	Micrognathia, Narrow palate, Downturned corners of mouth, Clinodactyly of the 5th finger, Microph...	OMIM:614222
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Microphthalmia, Syndromic 13	Microphthalmia, Widely-spaced incisors	OMIM:300915
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Ventricular septal defect, Hypoplasia of teeth, Microphthalmia, Short nose, Ret...	OMIM:234050
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Anosmia, Cleft palate, Bifid nose, Hyposmia, Clinodactyly	OMIM:614838
Okamoto Syndrome	Tented upper lip vermilion, Abnormally large globe, Primum atrial septal defect, Downturned corne...	ORPHA:2729
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Patent ductus arteriosus after premature birth, Postaxial polydactyly...	OMIM:618460
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Microg...	ORPHA:2083
Diaphanospondylodysostosis	Depressed nasal bridge, Micrognathia, Missing ribs, Depressed nasal ridge, Cleft palate, Narrow p...	OMIM:608022
Lathosterolosis	Hepatomegaly, Toe syndactyly, Anteverted nares, Micrognathia, Intrahepatic cholestasis, Bulbous n...	ORPHA:46059
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Talipes equinovarus, Ev...	OMIM:617865
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Thrombocytopenia, Hypoplasia of the radius, 2-3 finger syndactyly, Pat...	OMIM:603467
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Orofacial cleft	ORPHA:324416
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Mckusick-Kaufman Syndrome	Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Aganglionic megacolon, Postaxial...	ORPHA:2473
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thumb, Patent foramen oval...	OMIM:609053
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty...	OMIM:614099
Marshall-Smith Syndrome	Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto...	OMIM:602535
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinodactyly, Hypo...	OMIM:184250
Faciocardiomelic Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Dental malocclusion, Wide mouth, Slender ...	OMIM:612731
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Abnormally large globe, Broad ...	ORPHA:1655
Acromelic Frontonasal Dysplasia	Median cleft lip, Broad nasal tip, Bifid nasal tip, Patellar hypoplasia, Wide mouth, Bifid nose, ...	ORPHA:1827
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Protruding tongue, Gingival overgrowth, Abnormal heart mor...	ORPHA:93400
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Micrognathia, Long nose, Carious teeth, Velopharyngeal insufficiency, ...	OMIM:613680
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia...	ORPHA:1974
Degcags Syndrome	Prominent nose, Micrognathia, Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High...	OMIM:619488
Alg9-Cdg	Villous atrophy, Micrognathia, Right ventricular dilatation, Narrow greater sciatic notch, Abnorm...	ORPHA:79328
Craniofacial Microsomia 1	Anophthalmia, Ventricular septal defect, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia...	OMIM:164210
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Tracheal calcification, Epiphyseal stippling, Abnormal pelvic ...	OMIM:302960
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Depressed nasal bridge, Choanal atr...	OMIM:259775
Tetrasomy 5P	Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Long fingers, Wide nasal bridge, H...	ORPHA:3309
Tetraamelia Syndrome 2	Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, M...	OMIM:618021
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Choanal atresia, Secundu...	OMIM:612562
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Tapered finger, Intraventricular...	OMIM:613603
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Acrocraniofacial Dysostosis	Anteverted nares, Prominent nasal bridge, Choanal atresia, Tapered finger, Coxa valga, Micrognath...	ORPHA:949
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, D...	OMIM:615398
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, High palate, Atrial septal defect, Bilateral coxa valga, Patent foram...	OMIM:615582
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bri...	OMIM:616430
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Thick vermilion border, Long philtrum	ORPHA:833
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Leukocytosis...	ORPHA:2307
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Unilateral cleft ...	OMIM:610828
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Conical tooth, Abnormality o...	ORPHA:228390
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Ventricular septal de...	OMIM:613884
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Microphthalmia, Hepatic steatosis, Pancr...	OMIM:618805
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Metatarsus adductus...	OMIM:227330
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Hepatomegaly, Ventricular septal defect, Optic nerve hypopla...	OMIM:620025
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Abnormal heart valve morphology, Decreased palmar cr...	ORPHA:2953
Nephronophthisis 15	Polydactyly	OMIM:614845
Acrofrontofacionasal Dysostosis	Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Cleft...	ORPHA:1784
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Non-midline cleft lip, Wide nasal bridge, Orofacial cleft,...	ORPHA:1752
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Patent foramen ovale, Short phal...	OMIM:263650
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplas...	OMIM:616367
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Macroglo...	ORPHA:261144
Microphthalmia With Linear Skin Defects Syndrome	Wide nose, Anophthalmia, Abnormal dental enamel morphology, Micrognathia, Dilated cardiomyopathy,...	ORPHA:2556
Bardet-Biedl Syndrome 8	Situs inversus totalis, Postaxial polydactyly	OMIM:615985
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ventricular septal defect, Hepatomegaly	OMIM:613730
Meier-Gorlin Syndrome 6	Microretrognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal ala...	OMIM:616835
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Depressed nasal bridge, ...	ORPHA:1427
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Narrow greater sciatic notch, Short palm, Atrial septal defect, Hepatoblas...	OMIM:312870
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
20Q11.2 Microduplication Syndrome	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Tented philtrum, Wide nasal...	ORPHA:363659
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte...	OMIM:200600
Galloway-Mowat Syndrome 3	Arachnodactyly, Hiatus hernia, Micrognathia, Narrow mouth, Hip dislocation, Coarctation of aorta,...	OMIM:617729
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
X-Linked Intellectual Disability, Cantagrel Type	Gastroesophageal reflux, Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Atrial septal defect, Ventricular septal defect, Prominent nasal bridge, Short...	ORPHA:1519
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Ve...	ORPHA:1465
Pycnodysostosis	Aplastic clavicle, Prominent nose, Persistence of primary teeth, Delayed eruption of primary teet...	OMIM:265800
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ...	ORPHA:3107
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Anteverted nares, Choanal atresia, Ventricular septal defect, Micrognathia, Cleft lip...	OMIM:616975
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Situs inversus totalis, Asplenia, Absent frontal sinuses, Anosmia, Bronchiectasi...	OMIM:244400
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Abnormal tibia mo...	ORPHA:1335
Momo Syndrome	Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi...	ORPHA:2563
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Conical tooth, Cleft upper lip, Hypoplasia o...	OMIM:106260
Branchio-Oculo-Facial Syndrome	Broad nasal tip, Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Wide nasal brid...	ORPHA:1297
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Thin upper lip vermilion, Wide nose, Peripheral pulmonary artery stenosis, Ventricular septal def...	OMIM:617506
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, Gastroesophage...	OMIM:115150
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Neurocardiofaciodigital Syndrome	Syndactyly, Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Thin vermilion b...	OMIM:619869
Trisomy 20P	Finger syndactyly, Anteverted nares, Camptodactyly of finger, Abnormality of the dentition, Micro...	ORPHA:261318
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Prominent nose, Mi...	OMIM:619268
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Bulbous nose, Dilated cardiomyopa...	OMIM:603736
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Cleft upper lip, Micrognathia, Patent ductus arteriosus, Cleft palate,...	OMIM:153400
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Anteverted nares, Optic disc hypoplasia, Micrognathia, Absent ra...	ORPHA:233
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Choanal atresia, Abnormali...	ORPHA:261112
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Single transverse palmar cre...	ORPHA:521426
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Distal ileal atr...	OMIM:267000
Poikiloderma With Neutropenia	Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, Splenomegaly, Micrognathia, Neu...	OMIM:604173
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Anteverted nares, Bo...	OMIM:272460
Ctcf-Related Neurodevelopmental Disorder	Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger, Gastroesoph...	ORPHA:363611
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom...	OMIM:300912
Fryns-Smeets-Thiry Syndrome	Narrow nasal bridge, Arachnodactyly, Prominent nasal bridge, Micrognathia, Patellar aplasia, Hip ...	ORPHA:2058
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Patent fo...	OMIM:256520
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Cardiomegaly...	OMIM:608013
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:457279
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short metatarsal, Finger clinod...	OMIM:617137
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat...	ORPHA:109
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Choanal stenosis, Gas...	OMIM:620186
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa...	OMIM:619534
Larsen Syndrome	Short metatarsal, Atrial septal defect, Hypoplastic cervical vertebrae, Short metacarpal, Depress...	OMIM:150250
X-Linked Dominant Chondrodysplasia Punctata	Depressed nasal bridge, Anomalous tracheal cartilage, Neonatal epiphyseal stippling, Hip dislocat...	ORPHA:35173
Ataxia-Telangiectasia	Hypopigmentation of hair, Diabetes mellitus, Premature graying of hair, Type II diabetes mellitus...	ORPHA:100
Hallermann-Streiff Syndrome	Natal tooth, Prominent nasal bridge, Abnormality of the hand, Underdeveloped nasal alae, Selectiv...	OMIM:234100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ne...	OMIM:616738
Pallister-Hall Syndrome	Depressed nasal ridge, Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Microret...	ORPHA:672
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Aplastic anemia, Single transverse palmar crease, Prominen...	OMIM:223370
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,...	ORPHA:2788
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti...	ORPHA:90154
Achondrogenesis, Type Ii	Microretrognathia, Broad long bones, Abnormally large globe, Short tubular bones of the hand, Cle...	OMIM:200610
Geleophysic Dysplasia 2	Thin upper lip vermilion, Hepatomegaly, Mitral stenosis, Tricuspid stenosis, Mitral valve prolaps...	OMIM:614185
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Micrognathia	ORPHA:1129
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High...	OMIM:135500
Donnai-Barrow Syndrome	Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Broad nasal tip, Hypop...	OMIM:222448
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, High, narrow palate, Atrial septal defect, Cli...	ORPHA:373
Macrocephaly/Autism Syndrome	Hepatomegaly, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Splenomegaly, High palate...	OMIM:605309
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Anteverted nares, Postaxial polydactyly, Hip dysplasia,...	OMIM:616362
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Gastroesophageal reflux, Short nose	OMIM:620292
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Dental crowding, High, narr...	OMIM:309800
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro...	OMIM:301043
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose	OMIM:618774
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Kinsship Syndrome	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Downturned corners of mouth...	OMIM:619297
Micro Syndrome	Anteverted nares, Micrognathia, Wide nasal bridge, High palate, Short philtrum, Microphthalmia, S...	ORPHA:2510
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Protruding tongue, Conotruncal defect, Coarctation of aorta, Downturned corners...	ORPHA:96147
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Ventricular septal defect, Micrognathia, Narrow mouth, Patent ductus arte...	OMIM:613457
Pearson Syndrome	Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Exocrine pancreatic insufficien...	ORPHA:699
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Triangular mouth, Cleft palate...	OMIM:257300
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Cardiac...	ORPHA:77301
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:618838
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Optic nerve hypoplasia, Abnormally large globe, Broad nasal tip, Microgna...	OMIM:300749
Adams-Oliver Syndrome 1	Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arte...	OMIM:100300
Donnai-Barrow Syndrome	Ventricular septal defect, Short nose, Depressed nasal bridge, Intestinal malrotation	ORPHA:2143
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r...	OMIM:613451
Enlarged Parietal Foramina	Cleft lip, Cleft palate, Short clavicles, Abnormal cerebral vein morphology, Broad thumb, Venous ...	ORPHA:60015
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly, Short nose, Mandibular prognathia	OMIM:618087
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
De Barsy Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Small, conical ...	ORPHA:2962
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Wide nose, Anteverted nares, Overlapping toe, Cleft uppe...	OMIM:213980
Distal Deletion 9P	Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose, B...	ORPHA:1642
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Bilateral mic...	ORPHA:2399
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda...	OMIM:617527
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Hypoplastic pub...	ORPHA:1865
Crane-Heise Syndrome	Finger syndactyly, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Toe syndactyly...	ORPHA:1512
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo...	ORPHA:352665
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ...	ORPHA:52368
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Depressed nasal bridge, Abnormal dental enamel morphology, Abnormal fibula morphology...	ORPHA:1812
Opsismodysplasia	Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Metaphyseal cupping, Hypo...	OMIM:258480
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, Anteriorly placed...	OMIM:305450
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Hepatic cysts, Brachydactyly	OMIM:613819
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Malabsorption, Micrognathia, Recurrent upper respiratory tract infections, Wide nas...	OMIM:233600
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Gas...	OMIM:300373
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Tapered finger, Hip dysplasia, Hypodontia, Finger joint hypermobility, Metac...	ORPHA:544503
Diamond-Blackfan Anemia 1	Micrognathia, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High pal...	OMIM:105650
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M...	OMIM:300855
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th f...	ORPHA:1449
Ayme-Gripp Syndrome	Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Tapered fi...	OMIM:601088
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Absent frontal sinuses...	OMIM:119600
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Gast...	OMIM:117650
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Carney Complex, Type 1	Cardiac myxoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anophthalmia, Anteverted nares, Wide nasal bridge, Thick vermilion border, Long philtr...	ORPHA:2526
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Asplenia, Calca...	ORPHA:261537
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Narrow mout...	OMIM:601353
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Micrognathia, Dysphagia, Volvulus, Short nose	OMIM:617802
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Ventricular septal defect, Thin vermilion border, Long philtrum, ...	ORPHA:85194
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypopigmentation of the ...	OMIM:618541
Joubert Syndrome 21	Anophthalmia, Splenomegaly, Single naris, Short ribs, Dysphagia, Chronic sinusitis	OMIM:615636
Oculocerebral Hypopigmentation Syndrome, Cross Type	Arachnodactyly, Depressed nasal bridge, Anteverted nares, Abnormal thumb morphology, Anemia, Narr...	ORPHA:2719
Trichothiodystrophy 3, Photosensitive	Natal tooth, Lymphopenia, Carious teeth, Pyloric stenosis, Neutropenia, Eclabion, Microphthalmia,...	OMIM:616395
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Preaxial polydactyly	ORPHA:163681
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor...	OMIM:194190
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Campomelia, Cumming Type	Hepatomegaly, Bowing of the long bones, Micromelia, Pancreatic cysts, Abnormality of the pancreas...	ORPHA:1318
Dermotrichic Syndrome	Aganglionic megacolon, Short nose, Depressed nasal bridge, Anemia	ORPHA:99688
Rabson-Mendenhall Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Prominent nasal bridge, Ventricular septal de...	ORPHA:769
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m...	ORPHA:1071
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Gastroesophageal reflux, Short 4th toe, At...	OMIM:615873
Lissencephaly 8	Microphthalmia, Talipes equinovarus	OMIM:617255
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Tented upper lip vermilion, Tapered toe, Shoulder flexion cont...	OMIM:620369
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Chime Syndrome	Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplas...	ORPHA:3474
Aase-Smith Syndrome I	Ventricular septal defect, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Secundum atrial septal defect, Oral ulcer, Leukopenia, High pala...	OMIM:612541
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Underdeveloped nasal alae, Tapered finger, Bulbous nose, Wide nasal bri...	OMIM:615803
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge	ORPHA:2835
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Split hand, Clubbing, Absen...	OMIM:600460
Primary Pulmonary Hypoplasia	Dextrocardia, Micrognathia, Secundum atrial septal defect, Cleft palate, Patellar hypoplasia, Abn...	ORPHA:2257
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Mowat-Wilson Syndrome	Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Asplenia, Gastr...	ORPHA:2152
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no...	OMIM:229400
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Microphthalmia, Short nose, Clinodactyly of the 4th toe,...	OMIM:614225
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Anteverted nares, Postaxial polydactyly, Optic nerve hypoplasia, Hypoplastic aortic...	ORPHA:457284
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Multiple Benign Circumferential Skin Creases On Limbs	Micrognathia, Cleft palate, Upper limb asymmetry, Long philtrum, Microphthalmia	ORPHA:2505
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Cutaneous syndactyl...	OMIM:617666
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal...	OMIM:122880
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Cleft palate,...	OMIM:616462
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Denta...	OMIM:619005
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Conical tooth, C...	OMIM:263750
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, Hepatomegaly, Micrognathia, Deep philtrum, Dental malocclusion, High pa...	ORPHA:329178
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Fontaine Progeroid Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly place...	OMIM:612289
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Slender...	OMIM:618590
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Galloway-Mowat Syndrome 1	Narrow nasal ridge, Prominent nose, Hiatus hernia, Micrognathia, Hypoplasia of the iris, Wide mou...	OMIM:251300
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Congenital hepatic fibrosis, Glossoptosis, Clinodact...	ORPHA:2031
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Depressed nasal bridge, Tapered finger, Microdontia, Long fingers, Narr...	OMIM:616734
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Cleft palate, Anter...	OMIM:309801
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High p...	ORPHA:124
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Thin vermilion border, High palate, Malar flattening, Short nose, Smooth philtrum	OMIM:601853
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Camptodactyly of finger, Lip pit, Tapered finger, Hypodontia, Microphthalm...	ORPHA:1236
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Short nose, Depressed nasal bridge, Metaphyseal dysplasia	OMIM:614732
Larsen Syndrome	Finger syndactyly, Brachydactyly, Depressed nasal bridge, Accessory carpal bones, Cleft palate, A...	ORPHA:503
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ...	OMIM:617168
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease...	OMIM:269150
Cardiospondylocarpofacial Syndrome	Atrial septal defect, Anteverted nares, Tarsal synostosis, Ventricular septal defect, Bulbous nos...	OMIM:157800
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Pr...	ORPHA:1587
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hyp...	OMIM:200995
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Long philtrum, Short no...	ORPHA:50810
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Downturned corners of mouth, Slender long bone, Thick vermilion border, Cubitus...	ORPHA:1185
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Downturned corners of mouth, Thin vermilion border, Short philtrum, Short nose	ORPHA:2983
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Anteverted nares, Carious teeth, High palate, Narrow mouth, Malar fla...	OMIM:219200
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Talipes equinovarus, Anal atresia, Autoimmune thrombocytopenia	OMIM:601389
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Depressed nasal ridge, Cutaneous syndactyly of toes, High palate, Sh...	OMIM:618332
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Asplenia, Calca...	ORPHA:261552
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P...	OMIM:209900
Deafness, X-Linked 7	Unilateral microphthalmos, Wide nasal bridge	OMIM:301018
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Asplenia	OMIM:601086
Peho Syndrome	Anteverted nares, Tapered finger, Open mouth, Gingival overgrowth, Abnormal upper lip morphology,...	ORPHA:2836
Mowat-Wilson Syndrome	Prominent nasal tip, Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon,...	OMIM:235730
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Prominent nose, Abnormal periodontium morphology, High palate, Atrial...	ORPHA:480880
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,...	OMIM:619179
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Intracranial hemorrhage, Short philtrum, High p...	OMIM:613406
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Wrist flexion contr...	OMIM:268300
Rapp-Hodgkin Syndrome	Syndactyly, Depressed nasal bridge, Underdeveloped nasal alae, Conical tooth, Cleft upper lip, 2-...	OMIM:129400
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Conotruncal defect, Micrognathia	OMIM:243440
Fanconi Anemia, Complementation Group E	Pancytopenia, Absent thumb, Absent radius, Short thumb, Thrombocytopenia, Reticulocytopenia, Abno...	OMIM:600901
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Glossoptosis, Gastroesophageal re...	ORPHA:828
Choanal Atresia	Nasal congestion, Chronic sinusitis, Polydactyly, Tracheomalacia	ORPHA:137914
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Downturned corners of mouth, Widely spaced...	ORPHA:199
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Femoral bowing, Anteriorly placed anus, Choanal stenosis, Gastroesophageal r...	ORPHA:95699
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Depressed nasal bridge, Anteverted nares, Abnormal mor...	ORPHA:1340
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Gastroesophageal reflux, Atrial septal defect, Advance...	ORPHA:818
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Joubert Syndrome 23	Polydactyly	OMIM:616490
Rodrigues Blindness	Narrow nasal bridge, Microphthalmia, Tooth malposition	OMIM:268320
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Prominent veins on ...	ORPHA:357074
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Micromelia, ...	OMIM:211350
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Gastroesophageal reflux, Pa...	ORPHA:444077
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Microphthalmia, Micrognathia	OMIM:617306
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head, Hepatic fibrosis, Cholestasis	OMIM:616629
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Micrognath...	ORPHA:1300
Leopard Syndrome 1	Mandibular prognathia, Scapular winging, Limited elbow movement, Missing ribs, Complete atriovent...	OMIM:151100
Tetrasomy 9P	Dental crowding, Micrognathia, Biliary atresia, Downturned corners of mouth, High palate, Short p...	ORPHA:3310
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:619260
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Mandibular prognathia, Duodenal polyposis, Optic disc hypoplasia, Single transverse palmar crease...	ORPHA:261584
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger,...	OMIM:280000
Fanconi Anemia, Complementation Group A	Pancytopenia, Absent thumb, Absent radius, Short thumb, Thrombocytopenia, Reticulocytopenia, Abno...	OMIM:227650
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Dysphagia	OMIM:308350
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Depressed nasal bridge, Dysphagia, Microcytic anemia	OMIM:612379
Dend Syndrome	Anteverted nares, Elevated hemoglobin A1c, Downturned corners of mouth, Long philtrum, Clinodacty...	ORPHA:79134
Pterygium Colli, Isolated	Short nose	OMIM:177990
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
C Syndrome	Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micromelia, Bilateral single transverse...	ORPHA:1308
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Anosmia, Dental malocclusion, Cleft palat...	OMIM:603457
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Down-sloping shoulders, Micrognathia, Long nose, Long fingers, 2-3 toe cutaneous syndactyly, Clef...	OMIM:301091
Joubert Syndrome 16	Polydactyly	OMIM:614465
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os...	OMIM:271640
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Jaundice, Macroglossia, Concave nasal ridge, Prolonged ...	OMIM:613038
Senior-Loken Syndrome 8	Pancreatic cysts, Vascular dilatation, Polydactyly, Intrahepatic bile duct dilatation, Hepatic cysts	OMIM:616307
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upp...	OMIM:614294
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Downturned corners of mouth, Short philtrum, Atrial septal...	ORPHA:280
Peters Plus Syndrome	Micromelia, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Widely sp...	ORPHA:709
Braddock Syndrome	Preaxial hand polydactyly, Missing ribs, Micrognathia	ORPHA:52047
Faciocardiorenal Syndrome	Underdeveloped nasal alae, Narrow mouth, Wide nasal bridge, Cleft palate, Hypodontia, Tricuspid v...	ORPHA:1973
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Aplasia of the thymus, Broad nasal tip, Cleft lip, Patent ductus arterios...	OMIM:618223
Squalene Synthase Deficiency	Bicuspid aortic valve, Increased circulating farnesol concentration, Abnormality of hair pigmenta...	OMIM:618156
Treacher Collins Syndrome 1	Cleft soft palate, Choanal atresia, Micrognathia, Bilateral microphthalmos, Cleft palate, Abnorma...	OMIM:154500
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Short nose, Short distal phalanx of finger	OMIM:277450
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Ventricular septal ...	OMIM:609942
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Epistaxis, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, C...	OMIM:614034
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Aymé-Gripp Syndrome	Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Rocker bottom foot, Tapered finge...	ORPHA:1272
Marfan Syndrome	Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Increased axial lengt...	ORPHA:558
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Thin upper lip vermilion, Depressed nasal bridge, Overlapping toe, Broad nasal tip, Tapered finge...	OMIM:309590
Zttk Syndrome	Absent gallbladder, Depressed nasal bridge, Ventricular septal defect, Abnormality of the dentiti...	OMIM:617140
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Hepatic steatosis, Short femur, Hepatomegaly, Patent ductus arteriosus, Orofacial ...	ORPHA:17
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia	ORPHA:2714
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Thrombocytopen...	OMIM:227645
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depre...	OMIM:114290
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Aplasia/Hypoplasia of the ribs, Rhizomelia, Abnormality of the hand, Ta...	ORPHA:319182
Warburg Micro Syndrome 4	Anteverted nares, Prominent nasal bridge, Narrow mouth, Long philtrum, Microphthalmia	OMIM:615663
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Familial Visceral Myopathy	Arachnodactyly, Camptodactyly of finger, Anteverted nares, Prominent nasal bridge, Aganglionic me...	ORPHA:2604
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Hypopigmentation of hair, Abnormal heart morphology	ORPHA:70472
Fibromuscular Dysplasia, Multifocal	Tortuous cerebral arteries, Carotid artery tortuosity, Dental crowding, Hiatus hernia, Micrognath...	OMIM:619329
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def...	OMIM:613001
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Cleft upper lip, Hiatus hernia, Malabsorption...	ORPHA:50
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Dental crowding, Broad...	OMIM:617157
Phace Syndrome	Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho...	ORPHA:42775
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Micrognathia, Patent ductus arteriosus, Wide nasal bridge, S...	ORPHA:2282
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Narro...	ORPHA:2588
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar...	OMIM:175050
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Triangular mouth, Microphthalmia, Short nose, Retrognathia	OMIM:601675
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Widely spaced teeth, Gastroesophageal reflux, Cleft soft palate, Tapered finger, Supernumerary to...	ORPHA:268261
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o...	ORPHA:2255
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Depressed nasal bridge, Postaxia...	ORPHA:397715
Adnp Syndrome	Thin upper lip vermilion, Broad hallux, Depressed nasal bridge, Single transverse palmar crease, ...	ORPHA:404448
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Single transverse palmar crease, Long nose, Downturned corners of mouth, High palate, Atrial sept...	OMIM:619522
Gapo Syndrome	Hepatomegaly, Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Micrognathia, Reti...	OMIM:230740
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Narrow mouth	OMIM:614833
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Narrow nasal tip, Prominent nasal bridge, Ventricu...	ORPHA:464306
Vitreoretinochoroidopathy	Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion	OMIM:193220
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Townes-Brocks Syndrome	Anteriorly placed anus, Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th finger...	ORPHA:857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Arachnodactyly, Intestinal malrotation, Hiatus herni...	OMIM:601776
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Choanal stenosis...	ORPHA:798
Limb Body Wall Complex	Atrial septal defect, Duplication of hand bones, Depressed nasal bridge, Choanal atresia, Broad h...	ORPHA:2369
Joubert Syndrome 7	Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Congenital Muscular Dystrophy With Cerebellar Involvement	Macroglossia, Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy	ORPHA:370959
Joubert Syndrome 2	Depressed nasal bridge, Postaxial hand polydactyly, Postaxial foot polydactyly, High palate, Micr...	OMIM:608091
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Ventricular septal defect, Postaxial polydactyly	OMIM:219730
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hypoglycemic seizures, Hyperbilirubinemia	OMIM:609734
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Arachnodactyly, Depressed nasal bridge, Arterial tortuosity, Microg...	OMIM:614437
Nijmegen Breakage Syndrome	Anal stenosis, Autoimmune hemolytic anemia, Sandal gap, Choanal atresia, Sinusitis, Cleft upper l...	OMIM:251260
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Arterial tortuosity, Micrognathia, Patent ductus arterio...	ORPHA:60030
Cadds	Short nose, Cholangitis, Cholestasis, Micrognathia	ORPHA:369942
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Overlapping fingers, Malabsorption, Exocrine pa...	OMIM:619004
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, Abnormalit...	ORPHA:85276
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Atrial...	OMIM:304120
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Ventricular septal defect, Accessory or...	ORPHA:434179
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thrombocytopenia, Patent ductus arteriosus, Abnormal heart morphology, Hepatosplenomegaly, Hypert...	ORPHA:505248
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Sandal gap, Optic nerve hypoplasia, Ventricular ...	OMIM:620330
Distal Deletion 19P	Long toe, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Sho...	ORPHA:96129
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum	OMIM:103050
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, Choanal stenos...	OMIM:218600
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Depressed nasal bridge, Micromelia, Cleft upper lip, Micrognathia, Preaxial hand polyd...	ORPHA:93271
Aneurysm-Osteoarthritis Syndrome	High palate, Abdominal aortic aneurysm, Bifid uvula, Arachnodactyly, Arterial tortuosity, Patent ...	ORPHA:284984
Jaberi-Elahi Syndrome	Depressed nasal bridge, Triangular mouth, Talipes equinovarus, Hand clenching, Short nose	OMIM:617988
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U...	OMIM:619426
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate, Depressed nasal bridge, Wide nasal bridge	OMIM:110100
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a...	OMIM:613795
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal defect, Prea...	OMIM:619471
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:464
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, G...	ORPHA:534
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Leukocytosis, Genu valgum, Dow...	OMIM:619321
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Brittle hair, Bicuspid aortic valve, Ventricular septal d...	ORPHA:84064
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, G...	ORPHA:522077
Cockayne Syndrome Type 3	Hepatomegaly, Carious teeth, Splenomegaly, Subdural hemorrhage, Cardiomyopathy, Aortic root aneur...	ORPHA:90324
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Gastrointestinal dysmotility, Downturned corners of mouth, Short philt...	ORPHA:500150
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate...	OMIM:142945
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge...	OMIM:619539
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Microphthalmia, Abnormality of the dentition	ORPHA:1806
Holoprosencephaly 2	Aplasia of the nasal bone, Median cleft lip and palate, Aplasia of the premaxilla, Proboscis, Sub...	OMIM:157170
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Depressed nasal bridge, Postaxial polydactyly	OMIM:615824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos...	OMIM:253800
Cerebrofaciothoracic Dysplasia	Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum	ORPHA:1394
Culler-Jones Syndrome	Cleft palate, Postaxial polydactyly, Cleft upper lip	OMIM:615849
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Gastroesophageal reflux, Atrial septal defect, Clinodacty...	OMIM:194050
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Aicardi Syndrome	Prominence of the premaxilla, Anteverted nares, Proximal placement of thumb, Hiatus hernia, Cleft...	OMIM:304050
Treacher Collins Syndrome 2	Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Choanal stenosis, Hypoplasia of t...	OMIM:613717
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short nose, Micrognathia	OMIM:615851
Cockayne Syndrome B	Mandibular prognathia, Slender nose, Hepatomegaly, Prominent nasal bridge, Delayed eruption of pr...	OMIM:133540
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholelithiasis, Enamel hyp...	OMIM:240300
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Short nose, Anteverted nares, Narrow mouth	OMIM:613735
Infantile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph...	ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i...	ORPHA:101085
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Microgna...	OMIM:601803
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Depressed nasal ridge, Wide n...	ORPHA:2211
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Prominent nasal bridge, Camptodactyly of finger, Optic ...	ORPHA:468631
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Abnormal morphology of ulna, Abnormality of the dentition, C...	ORPHA:93
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo...	OMIM:305100
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Delayed eruption of primary ...	OMIM:300952
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Anteverted nares, Short palm, Short nose, Brachydactyly	ORPHA:3339
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Chediak-Higashi Syndrome	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Silver-gray hair, Ocular albinism, Giant me...	OMIM:214500
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia	OMIM:613150
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Cleft upper lip, Micrognathia, Cleft palate, Buphthalmos, Microphthalmia,...	OMIM:236670
Trichothiodystrophy	Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Carious teeth, High, narro...	ORPHA:33364
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Short philtrum, High...	OMIM:619475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retrognathia, Optic nerve hypoplasia, Adducted thumb	OMIM:614643
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Long philtrum	OMIM:615145
Constricting Bands, Congenital	Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, Ectopia cordis	OMIM:217100
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Stroke-like episode, Microph...	ORPHA:137675
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, B...	ORPHA:227990
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, B...	ORPHA:227982
Cockayne Syndrome	Hepatomegaly, Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Splen...	ORPHA:191
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
Brittle Cornea Syndrome 1	Red hair, Mitral valve prolapse	OMIM:229200
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ...	OMIM:269200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Joubert Syndrome 39	Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglyceridemia...	ORPHA:167
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Holoprosencephaly 1	Proboscis, Single ventricle, Aplasia of the nose, Microphthalmia, Median cleft lip and palate	OMIM:236100
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Cardiomyopathy, L...	ORPHA:79430
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Splenomegaly, Hypopigmented ...	ORPHA:163746
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Micrognathia, Long philtru...	OMIM:618820
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Eosinophilia, Conical tooth, Leukocytosis, Ol...	OMIM:308300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct...	ORPHA:909
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy	ORPHA:79330
Vici Syndrome	Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Dilated c...	OMIM:242840
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
1P21.3 Microdeletion Syndrome	Wide mouth, Short nose, Micrognathia, Broad nasal tip	ORPHA:293948
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic a...	ORPHA:2396
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Wide mouth, High palate, Short nose, Convex nasal ridge	OMIM:300661
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormal cardiac septum morphology, Bicuspid aortic valve, Abnormality ...	ORPHA:96169
Prader-Willi Syndrome	Hypopigmentation of hair, Hyperinsulinemia, Frontal upsweep of hair, Type II diabetes mellitus, G...	OMIM:176270
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Thickened cortex of long bones, Anemia, Abnormality of the medullary cavity of th...	OMIM:127000
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Legius Syndrome	Acute monocytic leukemia, Desmoid tumors, Mitral valve prolapse, Diaphyseal dysplasia, Polydactyl...	ORPHA:137605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia	OMIM:259770
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia	OMIM:612109
Cockayne Syndrome A	Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:216400
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Type II diabetes mellitus	ORPHA:398079
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Splenomegaly, Retinal pi...	OMIM:219800
Magel2-Related Prader-Willi-Like Syndrome	Atrial septal defect, Hypopigmentation of hair, Hypopigmentation of the skin, Type II diabetes me...	ORPHA:398069
Brittle Cornea Syndrome	Abnormality of hair pigmentation, Pulmonic stenosis, Mitral valve prolapse	ORPHA:90354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Micrognathia, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia,...	OMIM:253280
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Depressed nasal ridge, Polydactyly, Abnormal digit...	ORPHA:95494
Maternal Uniparental Disomy Of Chromosome 2	Clinodactyly of the 5th finger, Preaxial hand polydactyly	ORPHA:96179
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98754
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Short nose, Single transverse palmar crease	OMIM:614863
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose, Thick vermilion border, Long philtrum	OMIM:252160
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177904
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177901
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Thick vermilion border, Long philtrum	OMIM:252150
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth...	OMIM:309000
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Prader-Willi Syndrome	Hypopigmentation of hair, Diabetes mellitus, Hypopigmentation of the skin	ORPHA:739
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Lipodystrophy, Familial Partial, Type 7	Pulmonary arteriovenous malformation, Narrow nasal ridge, Dysphagia, Recurrent pancreatitis, Narr...	OMIM:606721
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair, Hypoglycemia	ORPHA:565
Norrie Disease	Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Venous insufficiency, Hypoplasia of the iris...	ORPHA:649
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu...	OMIM:175780

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 Qsox1

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 Qsox1.

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

Title	Journal	IMPC Allele	PubMed ID
QSOX1, a novel actor of cardiac protection upon acute stress in mice.	Journal of molecular and cellular cardiology (April 2018)	Qsox1^{tm1a(KOMP)Wtsi}	29723491

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MGI Allele	Allele Type	Produced
Qsox1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Qsox1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Qsox1^{tm43918(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Qsox1^{em1(IMPC)Kmpc}	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: Qsox1 MGI:1330818

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Eye Morphology

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Human diseases caused by Qsox1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data