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Gene: Cplane1 MGI:1920942

Gene Summary

Name:

ciliogenesis and planar polarity effector 1

Synonyms:

b2b012Clo, Jbts17, Hug, 2410089E03Rik

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	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Cplane1^em1(IMPC)Tcp	HOM		Early adult	0.00
abnormal eye morphology		Cplane1^em1(IMPC)Tcp	HOM		E12.5	0.00

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Immunophenotyping

Panel B FCS file(s)

2 Images

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Gross Morphology Embryo E14.5-E15.5

Images

3 Images

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Immunophenotyping

Panel A FCS file(s)

2 Images

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Human diseases caused by Cplane1 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 Cplane1 (5 diseases)
Human diseases predicted to be associated with Cplane1 (2274 diseases)

The table below shows human diseases associated to Cplane1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finge...	ORPHA:2754
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short s...	OMIM:277170
Joubert Syndrome 17	Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Anteverted nares, Prominent n...	ORPHA:475
Monomelic Amyotrophy	Distal upper limb amyotrophy, Abnormality of the upper limb	ORPHA:65684

The table below shows human diseases predicted to be associated to Cplane1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Abnormal lung morphology, Abnormal thorax morphology, Cleft palate, U...	ORPHA:294975
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Polyhydramnios, Abnormal lung lobati...	OMIM:265380
Ritscher-Schinzel Syndrome 2	Pulmonary artery hypoplasia, High palate, Short philtrum, Atrial septal defect, Clinodactyly of t...	OMIM:300963
Robinow Syndrome	Dental crowding, Micrognathia, Pulmonary valve atresia, Hemivertebrae, Orofacial cleft, Atrial se...	ORPHA:97360
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Thin upper lip vermilion, Ventricular septal defect, Inte...	ORPHA:401935
Verheij Syndrome	Branchial cyst, Short neck, Hemivertebrae, Renal cyst, Vertebral fusion, Anteverted nares, Short ...	OMIM:615583
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Renal agenesis, Micrognathia, Underdeveloped nasal alae, High, narrow ...	ORPHA:2516
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, ...	OMIM:609029
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common...	OMIM:619143
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Beaded ribs, Cardiomegaly, Micrognathia, Short neck, Hydrops fetalis, Micropenis,...	OMIM:616897
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, ...	ORPHA:96170
Ellis-Van Creveld Syndrome	Epispadias, Pectus carinatum, Narrow chest, Hypoplastic iliac wing, Atrial septal defect, Neonata...	OMIM:225500
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Hypospadias, Depressed nasal bridge, Missing ribs, Microgn...	OMIM:220210
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ...	OMIM:231060
Trisomy 13	High, narrow palate, Abnormal lung lobation, Hydrops fetalis, Narrow chest, Atrial septal defect,...	ORPHA:3378
Recombinant Chromosome 8 Syndrome	Micrognathia, Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, ...	OMIM:179613
Kallmann Syndrome-Heart Disease Syndrome	Short lingual frenulum, Bilateral cryptorchidism, Pulmonary artery hypoplasia, Micropenis, Short ...	ORPHA:2326
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ven...	OMIM:618142
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Short stature, Metatars...	ORPHA:1388
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Prominent nose, Chiari type I malformation, Short philtrum, Gastroesophag...	OMIM:618316
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Long thorax, Narrow greate...	OMIM:617925
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Cleft u...	OMIM:264480
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Anteverted nares, Protruding tongue, Short neck, Cryptorchidism, Paten...	OMIM:612938
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteri...	OMIM:306955
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Complete atrioventricula...	OMIM:619142
Chime Syndrome	Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Abnor...	ORPHA:3474
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Long nose, Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Abnormality ...	ORPHA:363444
Van Esch-O'Driscoll Syndrome	Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, Spina bifida o...	OMIM:301030
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ...	ORPHA:210122
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Thoracic ...	OMIM:263520
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Cardiomegaly, Micrognathia, Fetal akinesia sequence, Short neck, Hydrops feta...	OMIM:617022
Mulibrey Nanism	Dental crowding, Single transverse palmar crease, Cardiomegaly, Absent frontal sinuses, Hydrops f...	OMIM:253250
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Branchial ...	ORPHA:261330
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Heart block, Anteriorly placed anus, Chiari type I malfor...	OMIM:617063
19P13.12 Microdeletion Syndrome	Short neck, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Finger syndactyly, ...	ORPHA:254346
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, Polyhydramnios, Short neck, Abnormal lung lobation...	ORPHA:99776
Down Syndrome	Prenatal double bubble sign, Single transverse palmar crease, Hypoplastic iliac wing, Atrial sept...	OMIM:190685
Trisomy 1Q	Polyhydramnios, Hydrops fetalis, Microretrognathia, Multicystic kidney dysplasia, Arachnodactyly,...	ORPHA:261344
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Anteverted nare...	OMIM:619343
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Decreased fetal movement, Cerebellar vermis hypoplasia, Short stature, Rocker bottom foot, Urinar...	OMIM:620070
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Short stature, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism,...	ORPHA:1166
Mucopolysaccharidosis, Type X	Spatulate ribs, Posterior scalloping of vertebral bodies, Widely spaced teeth, Broad ribs, Thicke...	OMIM:619698
Mosaic Trisomy 1	Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Polyhydramnios...	ORPHA:1692
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle...	ORPHA:2631
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent...	ORPHA:324410
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Hamamy Syndrome	Prolonged QRS complex, Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th f...	OMIM:611174
Acrocardiofacial Syndrome	Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Hypospadias, Cleft upper lip, Crypt...	ORPHA:2008
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Sandestig-Stefanova Syndrome	Decreased fetal movement, Rocker bottom foot, Short neck, Muscular ventricular septal defect, Wid...	OMIM:618804
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Sprengel anomaly, G...	OMIM:134780
Fryns Syndrome	Tented upper lip vermilion, Polyhydramnios, Micrognathia, Short neck, Abnormal aortic arch morpho...	ORPHA:2059
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Cleft palate, Hy...	OMIM:601355
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ...	ORPHA:508488
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Femoral retroversion, Microgn...	OMIM:616531
3C Syndrome	Hypoplasia of penis, Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Orofacial clef...	ORPHA:7
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Scimitar Syndrome	Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ...	ORPHA:185
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Median cleft lip, Depressed nasal bridge, Micromelia, Mi...	OMIM:241800
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Sho...	OMIM:612946
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Micrognathia, Broad nasal tip, Cryptorchidism,...	OMIM:615524
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Thora...	ORPHA:508498
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Short stature, Underdeveloped nasal alae, Cleft palate, Malar flattenin...	OMIM:611867
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,...	OMIM:616300
Pierre Robin Syndrome	Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis	OMIM:261800
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial...	ORPHA:476126
Fibrochondrogenesis 1	Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi...	OMIM:228520
Skraban-Deardorff Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's...	OMIM:617616
Phenobarbital Embryopathy	Mandibular prognathia, Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology...	ORPHA:1919
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac...	OMIM:217085
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Hydrops fetalis, Narrow chest, Anisospo...	ORPHA:1865
Marden-Walker Syndrome	Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology, Zollinger-Ellison syn...	OMIM:248700
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthisis, Short phalanx...	OMIM:184260
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cerebellar vermis,...	OMIM:614815
Tonne-Kalscheuer Syndrome	Micrognathia, Prominent nose, Downturned corners of mouth, Widely spaced teeth, Micropenis, Hypos...	OMIM:300978
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricu...	OMIM:614114
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Hydrops fetalis, Renal cyst, Fused teeth, High palate, Narrow...	OMIM:614091
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Finger syndact...	ORPHA:2886
Cardiac-Valvular Ehlers-Danlos Syndrome	Dental crowding, Calcaneovalgus deformity, Absent phalangeal crease, High palate, Atrial septal d...	ORPHA:230851
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Edema, Cleft upper lip, Micrognathia, Polyhydramni...	OMIM:312150
Achondrogenesis Type 1B	Thickened nuchal skin fold, Severe short stature, Anteverted nares, Micromelia, Micrognathia, Pol...	ORPHA:93298
Adams-Oliver Syndrome 6	Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Esophageal v...	OMIM:616589
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Distal Deletion 19P	Long toe, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Sho...	ORPHA:96129
Orofaciodigital Syndrome Xvii	Median cleft lip, Short stature, Prominent nose, Short middle phalanx of the 2nd finger, High, na...	OMIM:617926
Kagami-Ogata Syndrome	Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Atrial septal defect, Anteverted nares, ...	OMIM:608149
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cle...	ORPHA:3434
Short-Rib Thoracic Dysplasia 12	Edema, Bowing of the legs, Polyhydramnios, Short neck, Lobulated tongue, Thoracic dysplasia, Narr...	OMIM:269860
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Proximal placement of thumb, Short neck, Short stature, Thoracolumbar kyph...	OMIM:212066
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Micrognathia, Short thumb, P...	OMIM:612561
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Short stature, Cerebral hemorrhage, Postnatal growth retardation, Abnormal hand morpho...	OMIM:300845
Intellectual Disability, Wolff Type	Microretrognathia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, T...	ORPHA:3080
Burn-Mckeown Syndrome	Mandibular prognathia, Ventricular septal defect, Choanal atresia, Unilateral renal agenesis, Cle...	OMIM:608572
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Periventricular Nodular Heterotopia	Aortic regurgitation, Abnormal heart valve morphology, Pyloric stenosis, Patent ductus arteriosus...	ORPHA:98892
Mosaic Variegated Aneuploidy Syndrome	Polyhydramnios, Micrognathia, Abnormal lung lobation, Depressed nasal ridge, Atrial septal defect...	ORPHA:1052
Autosomal Recessive Amelia	Hypoplasia of penis, Polyhydramnios, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofaci...	ORPHA:1027
Achondrogenesis Type 1A	Short palm, Multiple rib fractures, Thickened nuchal skin fold, Severe short stature, Anteverted ...	ORPHA:93299
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Micrognathia, Hydrops fetalis, Narrow chest, Neonatal short-limb short stature, D...	ORPHA:50945
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy...	OMIM:613091
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of ...	OMIM:616894
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Hypospadias, Single transve...	OMIM:610253
Microphthalmia, Syndromic 9	Micrognathia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Neon...	OMIM:601186
Infantile Sialic Acid Storage Disease	Anteverted nares, Premature birth, Cardiomegaly, Congestive heart failure, Abnormal thorax morpho...	OMIM:269920
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Polyhydramnios, Abnormal left ventricular function, Vesicoureteral reflux, Pulmonary artery atres...	OMIM:301056
Mosaic Trisomy 16	Single transverse palmar crease, Abnormal lung morphology, Anteriorly placed anus, Atrial septal ...	ORPHA:1708
Holzgreve Syndrome	Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic le...	OMIM:236110
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, High palate, Wide...	OMIM:143095
Gillessen-Kaesbach-Nishimura Syndrome	Thickened nuchal skin fold, Ulnar deviation of the hand, Polyhydramnios, Micrognathia, Underdevel...	OMIM:263210
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse...	OMIM:235510
Congenital Disorder Of Glycosylation, Type Iie	Micrognathia, Secundum atrial septal defect, Short neck, Gastroesophageal reflux, Short stature, ...	OMIM:608779
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig...	OMIM:618845
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Leopard Syndrome 1	Mandibular prognathia, Bundle branch block, Limited elbow movement, Short neck, Depressed nasal r...	OMIM:151100
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Antevert...	OMIM:252500
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Nephrogenic rest, Micrognathia, Short neck, Dep...	OMIM:608022
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Neph...	OMIM:617402
2P15P16.1 Microdeletion Syndrome	Polyhydramnios, Enlarged thorax, High palate, Bilateral single transverse palmar creases, Multicy...	ORPHA:261349
Arterial Tortuosity Syndrome	Carotid artery dissection, Micrognathia, Pectus carinatum, High palate, Bifid uvula, Telangiectas...	OMIM:208050
Zttk Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, ...	OMIM:617140
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Proximal placement of thumb, Polyhydramnios, Urethral atresia, Neonatal death, Atrioventricular c...	OMIM:314390
Sotos Syndrome	Mandibular prognathia, High, narrow palate, High palate, Gastroesophageal reflux, Atrial septal d...	OMIM:117550
Distal Triplication 15Q	Micrognathia, Abnormal sternum morphology, High palate, Atrial septal defect, Dandy-Walker malfor...	ORPHA:314588
Seckel Syndrome 9	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased fetal movement, V...	OMIM:616777
Heterotaxy, Visceral, 7, Autosomal	Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo...	OMIM:616749
Turnpenny-Fry Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Polyhydramnios, Prominent i...	OMIM:618371
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie...	OMIM:620025
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Edema, Polyhydramnios, Short philtrum, Gastroesophagea...	ORPHA:79324
Hurler Syndrome	Short neck, Metaphyseal widening, Endocardial fibroelastosis, Microdontia, Hypoplasia of the femo...	OMIM:607014
Tarp Syndrome	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, Premat...	OMIM:311900
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyl...	ORPHA:1596
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Micrognathia, Crypto...	ORPHA:3304
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn...	ORPHA:91387
Stankiewicz-Isidor Syndrome	Ureteral duplication, Sacral dimple, Ventricular septal defect, Hypospadias, Absent thumb, Microg...	OMIM:617516
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Hyperextensibility of the finger joints, Aortic regurgitation, Arachnodact...	OMIM:609008
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Micrognathia, Short neck, Abnormal lung lobation, Hemivertebrae, Or...	ORPHA:958
Pallister-Hall Syndrome	Ectopic kidney, Abnormal lung lobation, Hemivertebrae, Renal cyst, Anteriorly placed anus, Neonat...	OMIM:146510
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Premature birth, Hy...	ORPHA:1909
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Intestinal malrotation, Depressed nasal bridge, Short sta...	ORPHA:3426
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Prominen...	OMIM:210710
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Atrial septal d...	ORPHA:2970
Grange Syndrome	Aortic regurgitation, Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial s...	ORPHA:79094
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand pol...	OMIM:136760
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A...	OMIM:619148
Thanatophoric Dysplasia	Atrial septal defect, Depressed nasal bridge, Abnormality of the kidney, Micromelia, Polyhydramni...	ORPHA:2655
Noonan Syndrome 14	Polyhydramnios, Short neck, High, narrow palate, Pectus carinatum, Scapular winging, Short statur...	OMIM:619745
Mucolipidosis Iii Gamma	Aortic regurgitation, Short stature, Abnormality of the hand, Short neck, Flat capital femoral ep...	OMIM:252605
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Premature birth, Micromelia, Micrognathia, Polyhydramnios, Fetal ascites,...	OMIM:215045
Platyspondylic Dysplasia, Torrance Type	Micromelia, Polyhydramnios, Abnormal carpal morphology, Hydrops fetalis, Narrow chest, Short palm...	ORPHA:85166
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Depressed nasal bridge, Occipital meningocele, Accessory oral frenu...	OMIM:616546
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,...	OMIM:600987
Monosomy 13Q34	Epistaxis, Prominent nasal bridge, Micrognathia, Prominent nose, Broad nasal tip, Postaxial hand ...	ORPHA:96168
Chromosome 1Q41-Q42 Deletion Syndrome	Tented upper lip vermilion, Deep philtrum, Vertebral segmentation defect, High palate, Short phil...	OMIM:612530
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ...	ORPHA:1354
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Edema, Micrognathia, Polyhydramnios, Fetal akinesi...	OMIM:253290
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Abnormal lung lobation, Gastroesophageal reflux, Phocomelia, Atrial s...	ORPHA:2538
Scheie Syndrome	Mandibular prognathia, Aortic regurgitation, Wide nose, Depressed nasal bridge, Short neck, Genu ...	OMIM:607016
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Hypoplasia of penis, Renal insufficiency, Anteverted nares, Protruding tong...	ORPHA:96147
Feingold Syndrome Type 1	Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the ...	ORPHA:391641
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Cleft upper lip, Pericardial effusion, Short neck, Depres...	OMIM:613885
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Depressed nasal bridge, Short stature, Micrognathia, Abnormality of the humerus, Prea...	ORPHA:3098
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephalocele, Ventric...	ORPHA:1908
Gm1 Gangliosidosis Type 1	Spatulate ribs, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies, Aspiration pneum...	ORPHA:79255
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Micrognathia, High, narrow palate, Aminoaciduria, High palate, U...	OMIM:214100
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Prominent nose, Short neck, Downturned corner...	OMIM:601808
Alg9-Cdg	Villous atrophy, Micrognathia, Short neck, Abnormal lung lobation, Hydrops fetalis, Right ventric...	ORPHA:79328
Recombinant 8 Syndrome	Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Atrial septal defect, Cli...	ORPHA:96167
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal ridge, Hydrops fetalis, Abnormal form of the vertebral bod...	ORPHA:354
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Aortic regurgitation, Bicuspid aortic valve, Short stature, Cervical kypho...	ORPHA:401923
Meacham Syndrome	Bicuspid aortic valve, Scimitar anomaly, Neonatal death, Atrial septal defect, Congenital alveola...	OMIM:608978
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Hydrops fetalis, Pectus carinatum, Narrow greater sciatic notch, Wide...	OMIM:253220
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Short stature, Single transverse palmar crease, Muscular ventricular septal defect, Adducted thum...	OMIM:620062
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Smooth philtrum, Ulnar deviation of the hand, Ventricular septal defect, Short stature, Proximal ...	OMIM:620113
Czeizel-Losonci Syndrome	Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Thoracolumbar s...	ORPHA:2437
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finge...	ORPHA:2754
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication, Sacral mening...	OMIM:223200
Keutel Syndrome	Sinusitis, Cartilaginous ossification of nose, Deep philtrum, Pulmonary artery hypoplasia, Emphys...	OMIM:245150
Schneckenbecken Dysplasia	Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro...	OMIM:269250
Nemaline Myopathy 9	Ventricular septal defect, Polyhydramnios, Micrognathia, Fetal akinesia sequence, Breech presenta...	OMIM:615731
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Broad nasal tip, Preaxial hand polydactyly, Cryptorchidism, Orofacial cleft, Lar...	ORPHA:85287
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, Ectopic kidney, Broad nasal tip, 2-3 toe syndactyly, Cleft palate,...	OMIM:239800
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short s...	OMIM:277170
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Polyhydram...	ORPHA:887
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Decreased fetal movement, Internally rotated shoulders, Dental...	OMIM:617468
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Renal Tubular Dysgenesis	Premature birth, Polyhydramnios, Oligohydramnios, Renotubular dysgenesis, Proximal tubulopathy, M...	ORPHA:3033
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Prominent nasal bridge, T...	OMIM:609460
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Polyhydramnios, Short neck, Abnor...	ORPHA:818
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Renal agenesis, Choanal atresia, Unilateral renal agenesis, Short stature, Pectus exca...	OMIM:619227
Monosomy 18Q	Mandibular prognathia, Abnormal palmar dermatoglyphics, Prominent nose, Bilateral cryptorchidism,...	ORPHA:1600
Kapur-Toriello Syndrome	Single transverse palmar crease, Short neck, Atrial septal defect, Micropenis, Bilateral single t...	OMIM:244300
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, Pectus excava...	ORPHA:555877
Osteogenesis Imperfecta	Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Cervical kyphosis, Abn...	ORPHA:666
Zaki Syndrome	Cerebellar vermis hypoplasia, Micrognathia, High palate, Short philtrum, Patent foramen ovale, An...	OMIM:619648
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Cardiospondylocarpofacial Syndrome	Pseudoepiphyses, Gastroesophageal reflux, Atrial septal defect, Vesicoureteral reflux, Patent for...	OMIM:157800
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectu...	ORPHA:1507
Chromosome 3Pter-P25 Deletion Syndrome	Micrognathia, Downturned corners of mouth, High palate, Gastroesophageal reflux, Atrioventricular...	OMIM:613792
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Short stature, Distal urethral duplication, Renal hypoplasia/apl...	ORPHA:2549
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, Anteverted nar...	OMIM:145420
Temtamy Syndrome	Aortic regurgitation, Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Aortic...	OMIM:218340
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Postaxial polydactyly, Micromelia,...	OMIM:617895
Dyrk1A-Related Intellectual Disability Syndrome	Renal cyst, Gastroesophageal reflux, Clinodactyly of the 5th finger, Micropenis, Pelvic kidney, A...	ORPHA:464306
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypoplasti...	ORPHA:3316
Atelosteogenesis Type I	Polyhydramnios, Micrognathia, Narrow chest, Absent or minimally ossified vertebral bodies, Rhizom...	ORPHA:1190
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Postaxial polydactyly, ...	OMIM:617866
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, High, n...	OMIM:612289
Hydrolethalus Syndrome 1	Polyhydramnios, Micrognathia, Abnormal lung lobation, Dandy-Walker malformation, Hypospadias, Mid...	OMIM:236680
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Exaggerated cupid's bow, Ventricular septal defect, Depressed nasal bridge, Micro...	ORPHA:261120
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Polyhydramnios, Abnormal lung l...	OMIM:215140
Alg3-Cdg	Abnormality of the gastrointestinal tract, Abnormality of the nose, Hypoplasia of the pons, Metap...	ORPHA:79321
Holt-Oram Syndrome	Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block...	ORPHA:392
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Enlarged thorax, High palate, Atrioventric...	ORPHA:251071
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Aarskog-Scott Syndrome	Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short pa...	ORPHA:915
Peroxisome Biogenesis Disorder 5A (Zellweger)	Single transverse palmar crease, Micrognathia, Renal cyst, High palate, Atrial septal defect, Tri...	OMIM:614866
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth...	ORPHA:2919
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, Short neck, Renal cyst, Choanal stenosis, Clinodactyly of the 5t...	OMIM:236500
22Q11.2 Deletion Syndrome	Polyhydramnios, Micrognathia, Short neck, Anorectal anomaly, Abnormal lung lobation, Abnormal aor...	ORPHA:567
Achondrogenesis, Type Ii	Microretrognathia, Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, E...	OMIM:200610
Koolen-De Vries Syndrome	Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Prominent fingerti...	OMIM:610443
Achondrogenesis	Thickened nuchal skin fold, Severe short stature, Anteverted nares, Micromelia, Micrognathia, Pol...	ORPHA:932
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Pectus excavatum, Ascendin...	OMIM:619825
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place...	OMIM:229850
Orofaciodigital Syndrome V	Lobulated tongue, High palate, Bifid uvula, Hamartoma of tongue, Postaxial foot polydactyly, Scol...	OMIM:174300
Femoral-Facial Syndrome	Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th...	ORPHA:1988
Congenital Disorder Of Glycosylation, Type Ik	Nonimmune hydrops fetalis, Micrognathia, Cardiomyopathy, Abnormality of the amniotic fluid, Thin ...	OMIM:608540
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Congenital Sialidosis Type 2	Abnormal EKG, Abnormality of the kidney, Edema, Protruding tongue, Respiratory tract infection, G...	ORPHA:93400
Maternal Phenylketonuria	Ventricular septal defect, Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Eso...	ORPHA:2209
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Micrognathia, Orofacial cleft, Symphalangism affecting the phalanges of the ...	ORPHA:2990
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Renal cyst, Gastroesophageal reflux, Micropenis, Pelvic kidney, Abnormality of th...	ORPHA:464311
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Polyhydramnios, Micrognathia, High palate, Gastroesophageal reflux, Atrial ...	OMIM:614080
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bilateral single transverse palmar creases, Bicuspid aortic valve, Proxi...	ORPHA:1120
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Arachnodactyly, High, narrow palate, Kyphosis, Shoulder dislocation, Scolio...	ORPHA:2181
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Thin upper lip vermilion, Renal insufficiency, Toe syndactyly, Renal agenes...	ORPHA:140952
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Polyhydramnios, Short neck, Narrow chest, Short phal...	ORPHA:56304
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Renal age...	ORPHA:1335
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebellar vermis hypoplasia, High, narrow palate, Anteriorly placed anus, Gastroesophageal reflu...	OMIM:618494
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Thickened ribs, Abnormal heart valve morphology, Severe short statur...	OMIM:230500
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s...	OMIM:619897
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Gastroesophageal reflux, Atr...	ORPHA:79345
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:201000
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Micrognathia, Ectopic kidney, Renal cyst, Anteriorly ...	OMIM:117650
Degcags Syndrome	Polyhydramnios, Oral-pharyngeal dysphagia, Micrognathia, Prominent nose, Bilateral renal hypoplas...	OMIM:619488
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Prom...	OMIM:612474
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Short neck, High palate, Choanal stenosis, Micro...	OMIM:259775
Trisomy 17P	Hypoplasia of penis, Micrognathia, Prominent nose, Short neck, Orofacial cleft, High palate, Clin...	ORPHA:261290
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnio...	ORPHA:96334
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Depressed nasal bridge,...	ORPHA:2876
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Absent outer dynein arms, Patent ductus arteriosus, Right aortic arch, Az...	OMIM:618300
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Anteriorly placed anus, Right ventricular dilatation, High palate, Atrial se...	OMIM:612863
Diamond-Blackfan Anemia 21	Hallux valgus, Aortic regurgitation, Sandal gap, Short stature, Tapered finger, Secundum atrial s...	OMIM:620072
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Micrognathia, Secundum atrial ...	ORPHA:2257
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Short neck, High palate, Atrial septal defect, Clino...	OMIM:612582
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Polyhydramnios, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, ...	OMIM:300373
Bohring-Opitz Syndrome	Polyhydramnios, Micrognathia, Gastroesophageal reflux, Atrial septal defect, Vesicoureteral reflu...	OMIM:605039
Velocardiofacial Syndrome	Ventricular septal defect, Short stature, Abnormality of the hand, Underdeveloped nasal alae, Cry...	OMIM:192430
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atrial septal defect, Pa...	OMIM:618870
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Short neck, Lobulated tongue, Dandy-Walker malformation, S...	OMIM:249000
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ...	ORPHA:2712
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Micrognathia, Underdeveloped nasal alae, Pectus excavatum, Deep philtrum,...	ORPHA:77300
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa...	ORPHA:435638
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Situs inversus totalis, Abnormal lung lobation, Femoral bowing, Hypertrophic cardi...	OMIM:615415
Congenital Heart Block	First degree atrioventricular block, Atrioventricular block, Hydrops fetalis, Vaginal birth after...	ORPHA:60041
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Coffin-Siris Syndrome 4	Prominent interphalangeal joints, Short philtrum, Atrial septal defect, Pulmonary artery atresia,...	OMIM:614609
Hurler-Scheie Syndrome	Aortic regurgitation, Recurrent respiratory infections, Depressed nasal bridge, Camptodactyly of ...	OMIM:607015
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Gingival overgrowt...	OMIM:619179
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Single transverse palmar crease, Edema, Micrognathia, High palate, A...	OMIM:618348
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno...	OMIM:617478
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Decreased fetal movement, Polyhydramnios, Elbow flexion contracture, Retrognat...	OMIM:617194
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Bicuspid aortic valve, Anteverted nares, Short stature, Cleft upper lip...	OMIM:243310
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Dental crowding, High palate, Clinodactyly of the 5th finger, Spina bifida occulta, Short 5th met...	OMIM:617877
Triploidy	Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Polyhydramnios, Micr...	ORPHA:3376
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ...	ORPHA:93296
Faciocardiomelic Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Cuboid-shaped vertebral bodies, Dental ma...	OMIM:612731
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Wide nose, Short statur...	ORPHA:85201
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defect, Depressed ...	OMIM:601927
Campomelia, Cumming Type	Bowing of the long bones, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Micromelia...	ORPHA:1318
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High p...	OMIM:616145
Trichohepatoenteric Syndrome 1	Villous atrophy, Polyhydramnios, Depressed nasal ridge, Bifid uvula, Hypospadias, Anteverted nare...	OMIM:222470
Down Syndrome	Short neck, Depressed nasal ridge, Downturned corners of mouth, Clinodactyly of the 5th finger, M...	ORPHA:870
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, High, nar...	OMIM:122470
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Postaxial polydactyly, Short statu...	OMIM:615503
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Downturned corners of mouth, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly...	OMIM:220500
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Ren...	ORPHA:139466
8P23.1 Duplication Syndrome	Wide nose, Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, ...	ORPHA:251076
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Short stature, Sudden ...	ORPHA:991
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	OMIM:300998
Hunter-Macdonald Syndrome	Bicuspid aortic valve, Pectus carinatum, Pseudoepiphyses, Short philtrum, Clinodactyly of the 5th...	OMIM:611962
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular se...	OMIM:619980
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Abnormal odontoid process morphology, Proportionate short stature, Cle...	OMIM:609654
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, ...	OMIM:611209
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	High palate, Atrial septal defect, Abnormal duodenum morphology, Microretrognathia, Tricuspid reg...	OMIM:601776
Cranioectodermal Dysplasia 2	Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, Renal cyst, Fused teeth, High palate, ...	OMIM:613610
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Smith-Lemli-Opitz Syndrome	Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact...	OMIM:270400
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Postaxial hand polydacty...	ORPHA:2075
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Short stature, Micrognathia, Prominent nose, Cl...	OMIM:301022
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Widely spaced teeth, Gastroesophageal reflux, Micropenis, Hypospadias, Cleft soft palate, Short s...	ORPHA:268261
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Short stature, Patent ductus arteriosus, Hand polydactyly, Everted low...	OMIM:249670
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Smooth ...	OMIM:601559
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, A...	OMIM:192350
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Polyhydramnios, Preaxial polydactyly, ...	OMIM:612651
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Lymphe...	ORPHA:536471
Distal Deletion 10P	Hypoplasia of penis, Short stature, Micrognathia, Short neck, Cryptorchidism, Non-midline cleft l...	ORPHA:1580
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Metaphyseal widening, Anterior atlanto-occipital dislocation, Pectus carinatum, Hig...	ORPHA:536467
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A...	ORPHA:401942
Temple-Baraitser Syndrome	Wide nose, Broad hallux, Depressed nasal bridge, Proximal placement of thumb, Adducted thumb, Dow...	OMIM:611816
Arthrogryposis, Distal, Type 1C	Short neck, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wrist flexion cont...	OMIM:619110
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Abnormal mitr...	ORPHA:1277
Aneurysm-Osteoarthritis Syndrome	Pectus carinatum, High palate, Abdominal aortic aneurysm, Bifid uvula, Arachnodactyly, Arterial t...	ORPHA:284984
Contractures-Developmental Delay-Pierre Robin Syndrome	Micrognathia, High, narrow palate, Abnormal finger morphology, Chiari type I malformation, Glosso...	ORPHA:436003
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Anteverted nare...	OMIM:619879
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Recurrent respiratory infections, Ventricular septal...	OMIM:618950
Birk-Aharoni Syndrome	Duplicated collecting system, Micrognathia, Cryptorchidism, Muscular ventricular septal defect, L...	OMIM:620071
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Intellectual Developmental Disorder, Autosomal Recessive 73	Decreased fetal movement, Ventricular septal defect, Single transverse palmar crease, Deep philtr...	OMIM:619717
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Atrial septal defect, Hypoplastic tricuspid valve, Patent foramen ovale, Pa...	OMIM:600001
Charge Syndrome	Abnormal palmar dermatoglyphics, Polyhydramnios, Micrognathia, Secundum atrial septal defect, Hem...	OMIM:214800
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,...	OMIM:213980
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect, High palat...	OMIM:249420
Axial Mesodermal Dysplasia Spectrum	Micrognathia, Short neck, Anorectal anomaly, Renal cyst, Abnormal form of the vertebral bodies, V...	ORPHA:1834
Ring Chromosome 22 Syndrome	Edema, Protruding tongue, Lymphedema, Bulbous nose, Wide nasal base, 2-3 toe syndactyly, Growth d...	ORPHA:1446
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,...	OMIM:311200
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Short stature, Unilateral renal agenesis, Cleft upper lip, Micrognathia, Ectopic ...	OMIM:601076
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Tented upper lip vermilion, Tapered finger, Pr...	OMIM:618580
Diamond-Blackfan Anemia 1	Micrognathia, Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Na...	OMIM:105650
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ...	ORPHA:280
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out...	OMIM:620294
Noonan Syndrome 12	11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Polyhydramnios, Pectus ...	OMIM:618624
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Missing ribs, Ectopic kidney, Cryptorc...	ORPHA:3027
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Epispadias, Preaxial polydac...	OMIM:615948
Mosaic Variegated Aneuploidy Syndrome 1	Micrognathia, Short neck, Renal cyst, Atrial septal defect, Micropenis, Dandy-Walker malformation...	OMIM:257300
Thanatophoric Dysplasia, Type I	Champagne cork sign, Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Sm...	OMIM:187600
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M...	OMIM:300855
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Cryptorc...	ORPHA:1926
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Wide nose, Overriding aorta, Sandal gap, Bicuspid aortic valve, Ventric...	ORPHA:477817
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Anteverted nares, Nonimmune hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Hydrops feta...	OMIM:613124
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Aplasia/Hypoplasia of the ce...	ORPHA:75389
Marfan Syndrome	Dental crowding, Bicuspid aortic valve, Equinus calcaneus, Micrognathia, Pectus carinatum, High p...	OMIM:154700
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Polyhydramnios, Abnormal lung lobation, Rena...	OMIM:312870
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Polyhydramnios, Short neck, Narrow chest, Neonatal short-limb short stature, Severe l...	OMIM:151210
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Micrognathia, La...	OMIM:274000
Houge-Janssens Syndrome 3	Single transverse palmar crease, Broad nasal tip, Muscular ventricular septal defect, High palate...	OMIM:618354
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Asp...	ORPHA:141152
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebellar atrophy, Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced...	OMIM:620269
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Pulmonary embolism, Venous ...	ORPHA:90308
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Polyhydramnios, Fetal akinesia sequence, Calcaneovalgus de...	OMIM:256520
Alagille Syndrome	Micrognathia, Long nose, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Sh...	ORPHA:52
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Esophageal Atresia	Bronchitis, Polyhydramnios, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal ref...	ORPHA:1199
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic a...	OMIM:614846
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Nonimmune hydrops fetalis, Micrognathia, Cleft palate, Thin ribs, Slender long bon...	OMIM:618265
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Short neck, Hydrops fetalis, Downturned corners of mouth, High palate, Camptodactyl...	OMIM:265000
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta	OMIM:140850
Mucolipidosis Type Ii	Abnormal long bone morphology, Narrow chest, Patent foramen ovale, Telangiectases of the cheeks, ...	ORPHA:576
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Mandibular prognathia, Depressed nasal bridge, Single transverse palmar creas...	OMIM:617804
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Micrognathia, Sh...	OMIM:620369
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the...	OMIM:200980
Enthesitis-Related Juvenile Idiopathic Arthritis	Back pain, Abnormal metatarsal morphology, Abnormal shoulder morphology, Abnormal femoral neck/he...	ORPHA:85438
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral...	ORPHA:2710
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Ventricular septal defect, Pr...	ORPHA:93267
Tetrasomy 9P	Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High palate, Short philtr...	ORPHA:3310
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Short stature, Broad nasal tip, Bifid nasal tip, Cleft palate, Poly...	OMIM:300484
Eng-Strom Syndrome	Ventricular septal defect, Camptodactyly of finger, Short stature, Pectus excavatum, Abnormal car...	ORPHA:1937
Microphthalmia With Limb Anomalies	Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Abnormal form of the vertebral bod...	ORPHA:1106
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Micrognathia, Ectopic kidney, Tracheoesophageal fistula, Orofacial cle...	ORPHA:268249
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Atrial septal defect, Toe syndactyly, Ventricular septal defect, Intestinal malrotation, Dextroca...	OMIM:619657
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Anteverted nares, Depresse...	ORPHA:404440
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Severe short stature, Bilateral single...	ORPHA:2511
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Glossoptosis, Ventricular septal defect	OMIM:614876
Agnathia-Otocephaly Complex	Wide nose, Polyhydramnios, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, A...	OMIM:202650
Distal Monosomy 7Q36	Hypoplasia of penis, Short stature, Micrognathia, Pectus excavatum, Cryptorchidism, Non-midline c...	ORPHA:1636
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Agenesis of cerebellar v...	OMIM:614424
Lujan-Fryns Syndrome	Atrial septal defect, Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of th...	ORPHA:776
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Brachydactyly, Abnormality of the philtrum, Ventricular septal defect, Short stature, Renal hypop...	ORPHA:1770
Trisomy 4P	Hypospadias, Camptodactyly of finger, Depressed nasal bridge, Abnormality of the dentition, Cario...	ORPHA:1738
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrow...	ORPHA:561
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Depressed nasal bridge, Camptodactyly of finger, Polyhydramnios, Micrognat...	ORPHA:994
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Prematur...	ORPHA:1208
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Bundle branch block, Ureteral duplication, Congenital hip dislocation, Hyp...	ORPHA:373
Tetralogy Of Fallot	Abnormal nasal morphology, Cryptorchidism, Thin vermilion border, Clinodactyly of the 5th finger,...	ORPHA:3303
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Epispadias, Short palm, Large iliac wing, Bifid...	ORPHA:2588
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Atrial septal defect, Spina bifida occulta...	OMIM:150250
Roifman Syndrome	Single transverse palmar crease, Downturned corners of mouth, Irregular vertebral endplates, Clin...	OMIM:616651
Feingold Syndrome 2	Ventricular septal defect, Short stature, Short middle phalanx of the 2nd finger, Short thumb, Po...	OMIM:614326
Feingold Syndrome Type 2	Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short stature, Short thumb, Short mid...	ORPHA:391646
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Intestinal malrotation, Pectus excavatum, Patent ductus arteriosus, Tetral...	ORPHA:2847
Achondrogenesis, Type Ib	Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Breech presentation, Hydrops fetalis, Umbili...	OMIM:600972
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Absent thumb, Absent radius, Missing ribs, Micrognathia, Humeroradial syno...	OMIM:251230
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax...	OMIM:614976
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Broad hallux phalanx, Depressed nasal bridge, Short stature, Hypo...	ORPHA:261295
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c...	OMIM:305400
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Anteverted nares, Protru...	OMIM:617062
Orofaciodigital Syndrome Type 10	Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Narrow chest, Atrial se...	ORPHA:289
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Decreased fetal movement, Absence of renal corticomedullary dif...	OMIM:619758
Trisomy 18	Atrial septal defect, Bilateral single transverse palmar creases, Microretrognathia, Short statur...	ORPHA:3380
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Micromelia, Micrognathia, Abnormality of the urethra, Abnormali...	ORPHA:2145
Charlie M Syndrome	Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Wide nasal brid...	ORPHA:1406
Filippi Syndrome	Cerebellar atrophy, Ventricular septal defect, Single transverse palmar crease, Underdeveloped na...	OMIM:272440
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Polyhydramnios, Micrognathia, Bilateral cryptor...	OMIM:180849
9q subtelomeric deletion syndrome	Abnormal heart morphology, Anteverted nares, Short nose, Protruding tongue	DECIPHER:52
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Polyhydramnios, Fetal akinesia sequence, High ...	OMIM:618975
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal atrial arrangement, Respiratory tract infection, Atelectasis, Cl...	ORPHA:244
Even-Plus Syndrome	Epiphyseal dysplasia, Recurrent urinary tract infections, Severe short stature, Short neck, Bifid...	OMIM:616854
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Decreased fetal movement, Premature birth, Secundum atrial septal defect, Narr...	OMIM:616866
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Re...	ORPHA:261494
Hennekam Syndrome	Mild postnatal growth retardation, Abnormal oral mucosa morphology, Ectopic kidney, Lymphedema, H...	ORPHA:2136
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Long nose, Downturned corners of mouth, High palate, Atrial septal defect, Clino...	OMIM:617602
Fanconi Anemia, Complementation Group O	Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia...	OMIM:613390
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Cardiomyopathy...	OMIM:619003
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, Micrognathia,...	OMIM:619472
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Abnormal form of the vertebral b...	ORPHA:819
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Mgat2-Cdg	Dental crowding, Ventricular septal defect, Pectus excavatum, Kyphosis, Patent ductus arteriosus,...	ORPHA:79329
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp...	OMIM:618363
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Bicuspid aortic valve, Polyhydramnios, Micrognathia, Abnormal curvature of the v...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Bicuspid aortic valve, Polyhydramnios, Micrognathia, Abnormal curvature of the v...	ORPHA:353277
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Mi...	ORPHA:2863
Gm1-Gangliosidosis, Type Ii	Premature birth, Protruding tongue, Coxa valga, Thoracolumbar kyphosis, Patent ductus arteriosus,...	OMIM:230600
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Pulmonary hypoplasia, Renal...	ORPHA:3032
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Wide nose, Sandal gap, Bicuspid aortic valve, Ventricular septal defect...	OMIM:616652
Kabuki Syndrome 2	Micrognathia, High palate, Atrial septal defect, Prominent fingertip pads, Atrioventricular canal...	OMIM:300867
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Single transverse palmar crease, Downturned corners of mouth, Gastroesopha...	ORPHA:329224
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Short neck, Abnormal sacrum mo...	ORPHA:2345
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Pectus excavatum, Calcaneovalgus deformity, Mitral valve prolapse, Mitral r...	OMIM:225320
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Gastroesophag...	ORPHA:353281
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Postnatal growth retardation, Cryptorchidism, Abnormal tongue morphology, Gastr...	ORPHA:531151
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Short neck, Anter...	OMIM:305450
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Recurrent urinary tract infections, Cleft upper lip, Shor...	OMIM:244600
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Severe short stature, Micromelia, Micrognathia...	OMIM:224410
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Anteverted nares, Pneumonia, Depressed nasal bridge, Malabsorption, Micrognathia, Prot...	OMIM:242860
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Hypospadias, Conical tooth, Cleft upper lip,...	OMIM:106260
Cutis Laxa, Autosomal Recessive, Type Ic	Single transverse palmar crease, Micrognathia, Periorbital edema, Rectal prolapse, Gastroesophage...	OMIM:613177
X-Linked Intellectual Disability, Nascimento Type	Hypoplasia of the pons, Deep philtrum, Downturned corners of mouth, Vesicoureteral reflux, Microp...	ORPHA:163956
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, S...	OMIM:214300
Zechi-Ceide Syndrome	Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, ...	OMIM:612916
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Bone-marrow foam ce...	OMIM:256550
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly...	OMIM:615996
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Micrognathia, Urethral stenosis, Depressed nasal ridge, Cle...	ORPHA:1727
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Broad hallux, Ventricular septal defect, Underdev...	ORPHA:276432
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Juvenile Sialidosis Type 2	Abnormality of the kidney, Protruding tongue, Gingival overgrowth, Abnormal form of the vertebral...	ORPHA:93399
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Intracranial hemorr...	ORPHA:740
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Short stature, Polyhydramnios, Abnormal limb bone morphology, Hydrops fetalis, Aplasia/Hypoplasia...	ORPHA:2204
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal...	OMIM:619103
Metatropic Dysplasia	Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal inter...	ORPHA:2635
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ...	OMIM:601357
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Chromosome 5Q12 Deletion Syndrome	Long toe, Sacral dimple, Ventricular septal defect, Micrognathia, Prominent nose, Long fingers, P...	OMIM:615668
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Arachnodactyly, Ventricular septal defect, Proteinuria, Micrognathia...	OMIM:616730
Microcephaly-Cardiomyopathy Syndrome	Ventricular septal defect, Sandal gap, Short stature, High, narrow palate, Dilated cardiomyopathy...	ORPHA:2515
Tetrasomy 5P	Recurrent respiratory infections, Overlapping toe, Anteverted nares, Short hallux, Micrognathia, ...	ORPHA:3309
20Q13.33 Microdeletion Syndrome	Hallux valgus, Sacral dimple, Dilation of Virchow-Robin spaces, Hypospadias, Narrow nose, Tapered...	ORPHA:261311
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Proteinuria, Aminoaciduria, Short philtrum, Clinodactyly, Pulmonary hemorrhage	OMIM:603585
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Tricuspid Atresia	Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
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
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Short philt...	OMIM:618454
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Dental crowding, Abnormal heart valve morphology, Abnormality of the dentition, Disproportionate ...	ORPHA:2868
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu...	ORPHA:99050
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t...	ORPHA:94066
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Micrognathia, Pyloric stenosis, Rib fusion, Cleft pal...	ORPHA:261197
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Short neck, Patent ductus arteriosus, Bilateral cleft lip a...	ORPHA:2001
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Decreased fetal movement, Rocker bottom foot, Polyhydramnios, Micrognathia, Sho...	OMIM:618393
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,...	ORPHA:2751
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Thickened ribs, Short neck, Pectus carinatum, Oligosacchariduria, Cortical...	ORPHA:309282
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Shor...	OMIM:252600
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Sacral dimple, Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced ...	OMIM:608227
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Decreased fetal movement, Depressed nasal bridge, Edema, Short neck, Pericard...	OMIM:608776
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Micrognathia, Hydrops fetalis, Renal cyst, Narrow chest, Absent ...	ORPHA:93271
Syndromic Diarrhea	Aortic regurgitation, Atrial septal defect, Villous atrophy, Bicuspid aortic valve, Gastritis, Ve...	ORPHA:84064
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, ...	OMIM:164210
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios...	ORPHA:363705
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, T...	OMIM:618829
Marden-Walker Syndrome	Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, A...	ORPHA:2461
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Na...	OMIM:277720
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Hypospadi...	OMIM:616449
Lethal Congenital Contracture Syndrome Type 1	Short stature, Polyhydramnios, Micrognathia, Short neck, Abnormality of the elbow, Abnormal rib m...	ORPHA:1486
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, Depressed nasal bridge, Micrognathia, High palate, Transp...	ORPHA:1913
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Mi...	OMIM:618815
Yunis-Varon Syndrome	Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Polyhy...	OMIM:216340
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Short neck, Hypertrophy of the urinary bladder, High palate, Gastroes...	ORPHA:280633
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Transaldolase Deficiency	Abnormality of the kidney, Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Coa...	ORPHA:101028
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, ...	OMIM:109400
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi...	ORPHA:2476
Mckusick-Kaufman Syndrome	Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ...	ORPHA:2473
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Restrictive Dermopathy 1	Ureteral duplication, Spontaneous chorioamniotic separation, Polyhydramnios, Micrognathia, Premat...	OMIM:275210
Fetal Akinesia Deformation Sequence 1	Polyhydramnios, Micrognathia, Fetal akinesia sequence, High, narrow palate, Short neck, High pala...	OMIM:208150
Omodysplasia 2	Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Gastroesophageal reflux, Clinoda...	OMIM:164745
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Short stature, Interphalangeal joint contracture of finger, Preaxial ha...	OMIM:606242
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Short stature, Stage 5 chr...	OMIM:615993
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Tetraamelia Syndrome 2	Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, M...	OMIM:618021
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal intervertebral disk morphology, Anteverted nares, Short stature, Carious teeth, Cryptorc...	ORPHA:2701
Endocardial Fibroelastosis	Hypoplasia of penis, Sandal gap, Micrognathia, Cryptorchidism, Congestive heart failure, Endocard...	ORPHA:2022
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu v...	ORPHA:3320
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Cardiomegaly, Short neck, Delayed epiphyseal ossification, Deep philtrum, Narrow ches...	OMIM:613320
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Deep philtrum, Renal cyst, Downturned corners of mouth, Nephrocalcinosis, High palate, Hypoplasia...	OMIM:615398
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal irregularity,...	ORPHA:457395
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Renal agenes...	OMIM:212780
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Postaxial hand poly...	ORPHA:83473
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Micr...	OMIM:615761
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal aortic m...	ORPHA:3405
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Gastroesophageal reflux, Finger syndactyly, Multicystic kidney d...	ORPHA:2092
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventric...	OMIM:620066
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Protruding tongue, Hyperlordosis, Atelectasis, Interc...	ORPHA:258
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Short stature, Cleft upper l...	OMIM:614294
Doors Syndrome	Short lingual frenulum, Abnormal placental membrane morphology, Polyhydramnios, Abnormal finger m...	ORPHA:79500
Sonoda Syndrome	Depressed nasal bridge, Ventricular septal defect, Short stature, Narrow mouth, High axial triradius	OMIM:270460
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Polyhydramnios, Aplasia of the epiglottis, Narrow chest, Atrioventricular canal defect, Depressed...	OMIM:617088
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Hypertrophic car...	ORPHA:295
Craniofacioskeletal Syndrome	Micrognathia, Short philtrum, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, B...	OMIM:300712
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Cleft upper lip, Abnormal toe morphology, Abnorma...	OMIM:216100
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Oligodontia, Ve...	ORPHA:453499
Hyperlysinemia	Short stature, Argininuria, Recurrent pneumonia, Depressed nasal ridge, Cystinuria, Pulmonary art...	ORPHA:2203
Chromosome 9P Deletion Syndrome	Micrognathia, Short neck, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, ...	OMIM:158170
Developmental And Epileptic Encephalopathy 18	Atrial septal defect, Oligohydramnios, Polyhydramnios, Aortic regurgitation	OMIM:615476
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, Downturned corners of mouth, High pala...	OMIM:300868
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Prominent nasal bridge, Abnormality of the dentition, Carious teeth...	ORPHA:3270
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Hypertension, Pulmonary hypoplasia, Abnormal renal corticomedullary...	OMIM:616733
Peters Plus Syndrome	Ureteral duplication, Micromelia, Micrognathia, Polyhydramnios, Short neck, Bicuspid pulmonary va...	ORPHA:709
Wrinkly Skin Syndrome	Congenital hip dislocation, Coxa vara, Premature rupture of membranes, High palate, Microdontia, ...	OMIM:278250
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu...	OMIM:212720
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Depressed nasal bridge, Abnormality of the hand, Mi...	ORPHA:1387
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal heart valve morphology, Short stature, Hyperlordosis, Cleft p...	ORPHA:577
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Dandy-Walker malform...	ORPHA:2750
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m...	OMIM:156510
C Syndrome	Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, An...	OMIM:211750
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kyphosis, Vascular ring, Mi...	OMIM:603387
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Short stature, Cryptorchidism, Short toe, Coronal hypospadias, Cleft...	ORPHA:921
Trisomy 8P	Short fourth metatarsal, Single transverse palmar crease, Abnormal atrioventricular connection, S...	ORPHA:264450
Oculodentodigital Dysplasia	Selective tooth agenesis, Clinodactyly, High palate, Joint contracture of the 5th finger, Atrial ...	OMIM:164200
Cat Eye Syndrome	Micrognathia, Vesicoureteral reflux, Atrial septal defect, Short stature, Patent ductus arteriosu...	OMIM:115470
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Cerebellar atrophy, Exaggerated cupid's bow, Rocker bottom foot, Ventricular septal defect, Antev...	OMIM:618506
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Ventricular septal defect, Short stature, Micrognathia, Underdev...	ORPHA:166035
Li-Campeau Syndrome	Ventricular septal defect, Single transverse palmar crease, Short stature, Cryptorchidism, Gastro...	OMIM:619189
X-Linked Intellectual Disability, Abidi Type	Short stature, Prominent nasal bridge, Pectus excavatum, Non-midline cleft lip, Cleft palate, Sco...	ORPHA:85273
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M...	ORPHA:3035
Coffin-Siris Syndrome 6	Depressed nasal bridge, Short stature, Kyphoscoliosis, Micrognathia, Broad nasal tip, High, narro...	OMIM:617808
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Renal cyst, T...	ORPHA:798
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Micrognathia, Glutaric aciduria, Cardiomyopathy, D-2-hydroxyglutaric aciduria	OMIM:600721
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo...	OMIM:610759
Coffin-Siris Syndrome 5	Thin upper lip vermilion, Wide nose, Sandal gap, Arachnodactyly, Depressed nasal bridge, Short st...	OMIM:616938
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal brid...	OMIM:618622
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, ...	OMIM:300590
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela...	ORPHA:2414
Holoprosencephaly	Hypoplasia of penis, Short neck, Deep philtrum, Depressed nasal ridge, Abnormal form of the verte...	ORPHA:2162
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Ureteral duplication, Dextrotransposition of the great arteries, Atri...	OMIM:270100
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia mo...	ORPHA:2879
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Ventricular septal defect...	OMIM:611134
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Duplicated collecting system, Ventricular septal defect, Short stature, Pol...	OMIM:607721
Congenital Tracheomalacia	Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Prematu...	ORPHA:95430
Restrictive Dermopathy	Ureteral duplication, Premature delivery because of cervical insufficiency or membrane fragility,...	ORPHA:1662
Contractural Arachnodactyly, Congenital	Bicuspid aortic valve, Micrognathia, Short neck, Pectus carinatum, High palate, Atrial septal def...	OMIM:121050
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Cerebrooculofacioskeletal Syndrome 3	Decreased fetal movement, Rocker bottom foot, Edema, Micrognathia, Cleft palate, Talipes equinova...	OMIM:616570
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Dental crowding, Hypoplasia of the pons, Deep philtrum, Oligosacchariduria, Pectus carinatum, Hig...	ORPHA:397709
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Short neck, Renal cyst, High palate, Premature loss of teet...	OMIM:102500
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Short stature, Broad nasal tip, Short neck, Cleft lip, Patent ductus arte...	OMIM:618223
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Premature birth, Ab...	ORPHA:974
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Abnormal sternum ...	ORPHA:93932
Congenital Heart Defects And Ectodermal Dysplasia	Anteverted nares, Depressed nasal bridge, Premature loss of primary teeth, Prominent nasal bridge...	OMIM:617364
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial pol...	OMIM:619721
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the ...	OMIM:300166
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Anteverted nares, Micrognathia, Promin...	ORPHA:1703
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Atrial septal defect, Exaggerated cupid's bow, Camptodactyly of finger,...	ORPHA:261236
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Bifid uvula, Sc...	OMIM:300958
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Oral-pharyngeal dysphagia, Long nose, Oligodontia, Short palm, Atrial septal def...	OMIM:619184
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Tented upper lip vermilion, Micrognathia, Ren...	OMIM:618460
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect...	OMIM:113000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, Micrognathia, High, narrow palate, Abnormal lung lobation, Renal cyst...	ORPHA:369837
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus...	OMIM:600460
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Prominent nose, Atrial septal defect, Bifid uvula, Dandy-Walker malformation, Depressed nasal bri...	OMIM:300968
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Short stature, Accessory oral frenulum, Osteolysis involving bones of the upper limbs...	ORPHA:88630
Noonan Syndrome 2	Polyhydramnios, Micrognathia, Short neck, Pectus carinatum, Abnormal sternum morphology, High pal...	OMIM:605275
Autism Spectrum Disorder Due To Auts2 Deficiency	Anteverted nares, Decreased palmar creases, Short stature, Micrognathia, Cryptorchidism, Kyphosis...	ORPHA:352490
Diamond-Blackfan Anemia	Radial artery aplasia, Micrognathia, Short neck, High palate, Triphalangeal thumb, Adenocarcinoma...	ORPHA:124
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Lateral clavicle hook, Po...	OMIM:615630
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p...	OMIM:617061
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bo...	OMIM:194190
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft lip,...	OMIM:619123
Jeune Syndrome	Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Short stature, Micromelia, Pos...	ORPHA:474
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Developmental And Epileptic Encephalopathy 100	Recurrent respiratory infections, Decreased fetal movement, Tented upper lip vermilion, Depressed...	OMIM:619777
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Renal agenesis, Cleft lip, Pul...	OMIM:611812
Gaucher Disease, Perinatal Lethal	Polyhydramnios, Cardiomegaly, Micrognathia, Neonatal death, Anteverted nares, Depressed nasal bri...	OMIM:608013
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp...	OMIM:614096
Fetal Minoxidil Syndrome	Depressed nasal bridge, Ventricular septal defect, Micrognathia, Cryptorchidism, Clinodactyly of ...	ORPHA:1918
Lowry-Maclean Syndrome	Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Hyp...	ORPHA:2409
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, High palate, ...	ORPHA:192
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperextensibility of the finger joints, Thin upper lip vermilion, Atrial se...	OMIM:309520
Intellectual Developmental Disorder, Autosomal Recessive 79	Thin upper lip vermilion, Ventricular septal defect, Short hallux, Broad nasal tip, Long fingers,...	OMIM:620393
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Nephrocalci...	OMIM:268310
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Cleft lip, Short meta...	ORPHA:217017
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Polyhydramnios, Micrognathia, Clinodactyly of the 5th finger, Pe...	OMIM:247200
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Decreased fetal movement, Premature birth, Polyhydramnios, Patent ductus arteriosus, Pulmonary hy...	OMIM:616867
German Syndrome	Depressed nasal bridge, Camptodactyly of finger, Short stature, Micrognathia, Lymphedema, Cryptor...	ORPHA:2077
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Long hallux, Broad columella, Abnormality of t...	ORPHA:2308
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Anteverted nares, Elongated superior...	OMIM:213300
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Cryptorchidism, Non-midline cleft lip, Cleft palate	ORPHA:1074
Stromme Syndrome	Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Mi...	OMIM:243605
Diaphanospondylodysostosis	Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar...	ORPHA:66637
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Sandal gap, Hypospadias, Polyhydramnios, Micrognathia, Renal hypoplasia/apla...	ORPHA:1046
Autosomal Dominant Cutis Laxa	Abnormal curvature of the vertebral column, Emphysema, Bronchiectasis, Pyelonephritis, Scoliosis,...	ORPHA:90348
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Short stature, Pectus excavatum...	OMIM:618330
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Conical tooth, Micrognathia, Supernumerary vertebrae, Micropenis, Syn...	OMIM:263750
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Cerebellar vermis hypoplasia, Rectourethral fistula, High palate...	OMIM:300000
3Mc Syndrome 1	Conjunctival telangiectasia, Atrial septal defect, Sacral dimple, Dental crowding, Single interph...	OMIM:257920
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolysis involving ...	ORPHA:371428
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, Ectopic kidney, High, narrow palate, Short neck, A...	ORPHA:96149
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Depres...	ORPHA:2256
Acropectoral Syndrome	Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T...	OMIM:605967
Microcephaly-Capillary Malformation Syndrome	Wide nose, Ventricular septal defect, Short stature, Hypoplasia of the maxilla, Vesicoureteral re...	OMIM:614261
Fetal Alcohol Syndrome	Thin upper lip vermilion, Atrial septal defect, Anteverted nares, Short stature, Micrognathia, No...	ORPHA:1915
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Cryptorchidism, Renal cyst, ...	OMIM:615982
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Unilateral r...	OMIM:614576
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa...	OMIM:601349
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Prominent nose, Camptodactyly o...	OMIM:300280
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Floating-Harbor Syndrome	Short neck, Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, Humeral pseudarth...	ORPHA:2044
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Ventricular septal defect, Depressed nasal bridge, Short stature, Proportio...	OMIM:277600
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Sacral dimple, Overlapping toe, Down-sloping shoulders, Ventricular sep...	OMIM:617452
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte...	ORPHA:2311
Ulbright-Hodes Syndrome	Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal penis ...	ORPHA:3404
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Cleft palate, Mitral valve prolapse, Platyspondyly, Abnormal epiphysis...	ORPHA:90653
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi...	OMIM:618821
Achondroplasia	Polyhydramnios, Bowing of the legs, Femoral bowing, Premature rupture of membranes, Narrow greate...	OMIM:100800
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Tortuous cerebral arteries, Os odontoideum, Unilateral renal agenesis, Post...	OMIM:616603
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,...	OMIM:101200
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Short stature, Micro...	OMIM:613604
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Polyhydramnios, Secundum a...	OMIM:612562
Oligomeganephronia	Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Premature birth, Un...	ORPHA:2260
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Anteverted nares, Depressed nasal bridge,...	ORPHA:513456
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Atrial septal defect,...	OMIM:300707
Bardet-Biedl Syndrome 10	Renal insufficiency, Polydactyly, Renal cyst	OMIM:615987
Pelger-Huet Anomaly	Ventricular septal defect, Depressed nasal bridge, Abnormality of the dentition, Kyphosis, Upper ...	OMIM:169400
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Dental crowding, Abnormal heart valve morphology, Short stature, Microgn...	ORPHA:228410
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Anteverted nares, Prominent nasal ...	ORPHA:500159
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Recurrent respiratory infections, Rhizomelia, Anteverted nares, Micromelia...	ORPHA:1842
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Metatarsus adductus, Hypopla...	ORPHA:293939
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Renal cyst, High palate, Gast...	OMIM:616975
Cohen Syndrome	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Hig...	OMIM:216550
Coffin-Siris Syndrome 2	High palate, Short philtrum, Dandy-Walker malformation, Anteverted nares, Depressed nasal bridge,...	OMIM:614607
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Short neck, Pectus carinatum, Downturned corners of mouth, ...	ORPHA:955
1Q21.1 Microdeletion Syndrome	High palate, Vesicoureteral reflux, Clinodactyly of the 5th finger, Broad hallux phalanx, Short s...	ORPHA:250989
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Micrognathia, Lymphedema, Short neck, High palate, Protein-losing enteropathy, Na...	OMIM:235255
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Noonan Syndrome 13	Micrognathia, Lymphedema, Short neck, Enlarged thorax, High palate, Widely spaced teeth, Gastroes...	OMIM:619087
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Pectus excavatum, Cleft palate, Pectus carinatum, Glossoptosis, Long philtrum, Mala...	ORPHA:166100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Broad hallux, Ag...	OMIM:614749
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Beaded ribs, C...	OMIM:166210
Short Stature-Micrognathia Syndrome	Cerebellar atrophy, Penoscrotal hypospadias, Rhizomelia, Ventricular septal defect, Short stature...	OMIM:617164
Glycogen Storage Disease Iv	Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops f...	OMIM:232500
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Short stature, Single transverse palmar crease, Cryptorchidism, Patent ductus arte...	OMIM:615502
Kury-Isidor Syndrome	Finger syndactyly, Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Rocker b...	OMIM:619762
16P12.1P12.3 Triplication Syndrome	Bilateral cryptorchidism, High, narrow palate, Abnormal tricuspid valve morphology, Atrial septal...	ORPHA:485405
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Dilation of Virchow-Robin spaces, Cleft upper lip, Broad nasal tip, Cr...	OMIM:603671
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Short neck, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Infe...	OMIM:613192
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Non-midli...	ORPHA:1752
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Deep philtrum, Depressed nasal ridge, Premature loss...	ORPHA:99843
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Overriding aorta, Prominent nasal bridge, Carious teeth, Abnormal aortic a...	ORPHA:1110
Santos Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu...	OMIM:613005
Coffin-Siris Syndrome 7	Bicuspid aortic valve, Polyhydramnios, Downturned corners of mouth, Chiari type I malformation, S...	OMIM:618027
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Abnorm...	ORPHA:276422
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft ...	OMIM:153400
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H...	ORPHA:2872
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Unilateral renal agenesis, Broad nasal tip, Cryptorchidism, 2-3 toe sy...	ORPHA:3306
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Diastrophic Dysplasia	Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis...	ORPHA:628
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Func...	ORPHA:96148
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, P...	ORPHA:457193
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti...	ORPHA:37553
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Anteverted nares, Polyhydramnios, Preaxial hand polydactyl...	OMIM:263630
Charge Syndrome	Polyhydramnios, Abnormal tibia morphology, Hemivertebrae, Gastroesophageal reflux, Aplasia/Hypopl...	ORPHA:138
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Short neck, High palate, Atrial septal defect, Arachnoda...	ORPHA:505237
Kbg Syndrome	Thin upper lip vermilion, Vertebral fusion, Macrodontia, Single transverse palmar crease, Antever...	ORPHA:2332
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Prominent nose, Short ...	OMIM:609625
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr...	OMIM:617201
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi...	OMIM:602535
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Decreased fetal movement, Ventricular septal defect, Tongue fas...	OMIM:253300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Single transverse palmar crease, Micrognathia, Choanal stenosis, Micropenis, Arachnodactyly, Cryp...	ORPHA:83617
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Lymphedema, Downturned corners of mouth, Abnormal sternum morphology...	OMIM:616737
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Telangiectasia of the skin, Edema, Myocar...	ORPHA:81
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide nose, Short stature, Prominent nose, Broad nasal tip, Bulbous nose...	OMIM:617982
Otospondylomegaepiphyseal Dysplasia	Polyhydramnios, Micrognathia, Short neck, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
8Q12 Microduplication Syndrome	Ventricular septal defect, Narrow mouth, Vesicoureteral reflux, Wide nasal bridge, Short foot, Ga...	ORPHA:228399
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Micrognathia, Pectus excavatum, F...	OMIM:616843
Heart And Brain Malformation Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly of finger, Anteverted nare...	OMIM:616920
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Hyperextensibility of the finger joints, 11 pairs of ribs, Recurrent respirat...	OMIM:618356
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Atrial septal defect, Bicuspid aortic valve, Patent ductus arteriosus, ...	OMIM:619149
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Decreased fetal movement, Polyhydramnios, Hydrops fetalis, High...	OMIM:255320
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:609192
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Gastroesoph...	OMIM:616580
Arterial Tortuosity Syndrome	Myocardial infarction, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachn...	ORPHA:3342
Cardiac-Urogenital Syndrome	Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos...	OMIM:618280
Acromicric Dysplasia	Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Narrow mouth, D...	OMIM:102370
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplica...	OMIM:617127
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Prominent nos...	ORPHA:447980
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Long palm, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Ab...	ORPHA:2759
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Pectus carinatum, High palate, Atrial septal defect, Bilateral coxa v...	OMIM:615582
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp...	OMIM:208500
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Depressed nasal bridge, Micr...	OMIM:108721
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Short neck, Deep philtrum, Pectus carinatum, Chiari type I malformation, High pal...	OMIM:617506
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Hy...	OMIM:614175
Cardiomyopathy, Familial Restrictive, 6	Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,...	OMIM:619433
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect...	ORPHA:46627
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short stature, Short thorax, Ab...	ORPHA:2484
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Mesomelic/rhizomelic ...	ORPHA:2347
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Short neck, Widely-spaced maxillary central incisors, H...	OMIM:309580
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Kyphoscoliosis, Hypoplasia of the odontoid process, Bulbous nose, Wide nas...	OMIM:612913
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Single transverse palmar crease, Short stature, Protruding tongue, Broad nasal t...	OMIM:618106
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Proximal placement...	OMIM:261540
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Abnormal form of the vertebral bo...	ORPHA:828
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Abnormal pleura m...	ORPHA:584
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Short stature, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Narro...	ORPHA:93946
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Abnormal ...	OMIM:619475
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Arachnodactyly, Hypospadias, Abnormality of the dentition, Kyph...	ORPHA:1548
Noonan Syndrome 11	Atrial septal defect, Depressed nasal bridge, Short stature, Pectus excavatum, Bulbous nose, Thic...	OMIM:618499
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Short stature, Abnormality of the urete...	ORPHA:1035
Sialidosis Type 2	Short stature, Kyphosis, Short thorax, Hydrops fetalis, Pedal edema, Pectus carinatum, Umbilical ...	ORPHA:87876
Carey-Fineman-Ziter Syndrome	Micrognathia, Aplasia of the pectoralis major muscle, Glandular hypospadias, Glossoptosis, High p...	ORPHA:1358
Nail-Patella Syndrome	Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later...	OMIM:161200
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Micrognathia, Short neck, Short palm, Clinodactyly of the 5th finge...	OMIM:620073
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral e...	OMIM:271640
Hydrops Fetalis	Abnormality of the gastrointestinal tract, Abnormality of the kidney, Polyhydramnios, Lymphedema,...	ORPHA:1041
Thanatophoric Dysplasia Type 2	Encephalocele, Depressed nasal bridge, Abnormality of the kidney, Micromelia, Short stature, Poly...	ORPHA:93274
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co...	OMIM:614823
Toriello-Carey Syndrome	Micrognathia, Short neck, Clinodactyly, Anteriorly placed anus, High palate, Narrow chest, Aplasi...	ORPHA:3338
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Abnormality of the kidney, Polyhydramnios, Cryptorchidism, Bulbous nose, Gastroe...	ORPHA:466926
Pitt-Hopkins-Like Syndrome 2	Protruding tongue, Wide mouth, Gastroesophageal reflux, Scoliosis, Pulmonic stenosis	OMIM:614325
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Tricuspid regurgitation, Supraventricular tachycardia with an accessory co...	ORPHA:404443
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Hypoplasia of the maxil...	ORPHA:245
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split hand, Wide ...	OMIM:618569
Zellweger Syndrome	Thickened nuchal skin fold, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias,...	ORPHA:912
Holzgreve Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Ren...	ORPHA:2167
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Polyhydramnios, Short...	ORPHA:3103
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Polydactyly, Nephroblastoma, Smoot...	OMIM:602501
Insulin-Like Growth Factor I, Resistance To	Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Long philtrum, Short statu...	OMIM:270450
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Ventricular septal...	OMIM:617751
Radio-Renal Syndrome	Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bodies,...	ORPHA:3015
Tyshchenko Syndrome	Ventricular septal defect, Short stature, Polyhydramnios, Premature birth, Pectus excavatum, Cryp...	OMIM:615102
Coffin-Siris Syndrome 3	Wide nose, Anteverted nares, Depressed nasal bridge, Short stature, Short distal phalanx of the 5...	OMIM:614608
Wiedemann-Steiner Syndrome	Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Short phalanx of...	OMIM:605130
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Gastroesophageal reflux,...	OMIM:600373
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ventricular septal defect, Short stature, Tapered finger, Cryptorchidism, Pa...	OMIM:617159
17Q23.1Q23.2 Microdeletion Syndrome	Patellar hypoplasia, Widely spaced teeth, Gastroesophageal reflux, Atrial septal defect, Intraute...	ORPHA:261279
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Microdontia, Abnormality...	ORPHA:1307
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Hydranencephaly, Ventricular septal defect, Short stature, Spina bi...	ORPHA:1393
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Pulmonary hypoplasia, Clino...	OMIM:601163
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo...	OMIM:615779
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio...	OMIM:618052
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Short stature, Camptodactyly of finger, Abnormality of the denti...	ORPHA:1794
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Single transvers...	OMIM:619720
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Narrow mouth, Atria...	ORPHA:3469
Timothy Syndrome	Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis...	OMIM:601005
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Finger syndactyly, Thin upper lip vermilion, Branchial cyst, Dental crowdi...	ORPHA:435938
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal...	ORPHA:2007
Juberg-Hayward Syndrome	Wide nose, Toe syndactyly, Hypospadias, Severe short stature, Short thumb, Hypoplasia of the radi...	ORPHA:2319
Adams-Oliver Syndrome 4	Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ...	OMIM:615297
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Thoracolumbar kyphosis, Polyhydramnios, Increase...	ORPHA:508533
Bartsocas-Papas Syndrome 1	Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Ectopic kidney, Short neck, Hy...	OMIM:263650
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Bilateral single transverse ...	ORPHA:3253
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,...	OMIM:617021
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short me...	OMIM:608328
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Short neck, Clinodactyly, Downturned corners of mouth, High palate, Widely...	ORPHA:369891
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Anteverted nares,...	OMIM:619135
Digeorge Syndrome	Micrognathia, High, narrow palate, High palate, Short philtrum, Gastroesophageal reflux, Bifid uv...	OMIM:188400
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia...	ORPHA:52056
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Atrial septal defect, Wide nose, Abnormal nasal bone morphology, Choana...	ORPHA:521308
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P...	OMIM:175700
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Cerebellar vermis hypoplasia, Edema, Renal cyst, Abnormality of the amniotic flu...	OMIM:212065
Seckel Syndrome 2	Hypospadias, Short stature, Micrognathia, Ectopic kidney, Prominent nose, Heart murmur, Growth de...	OMIM:606744
Noonan Syndrome 4	Ureteral duplication, Pectus excavatum of inferior sternum, Ventricular septal defect, Depressed ...	OMIM:610733
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Aganglionic megacolon, Ventricular septal defect, Prominent nasal bridge, Tapered fi...	OMIM:613870
Say Syndrome	Ulnar deviation of the 3rd finger, Short stature, Micrognathia, Tapered finger, Proximal renal tu...	OMIM:181180
Holoprosencephaly 13, X-Linked	Median cleft lip, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Submucous cl...	OMIM:301043
Genitopatellar Syndrome	Congenital hip dislocation, Polyhydramnios, Micrognathia, Prominent nose, Anteriorly placed anus,...	OMIM:606170
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Micrognathia, Choanal a...	OMIM:610536
Orofaciodigital Syndrome Type 3	Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit...	ORPHA:2752
Aase-Smith Syndrome	Camptodactyly of finger, Trismus, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinov...	ORPHA:916
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar...	ORPHA:228190
De Barsy Syndrome	Congenital hip dislocation, Cerebellar vermis hypoplasia, Coxa vara, Prominent veins on trunk, Pr...	ORPHA:2962
Cerebrofacioarticular Syndrome	Irregular dentition, Syndactyly, Anal stenosis, Cerebellar vermis hypoplasia, Hypospadias, Short ...	ORPHA:314679
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Biemond Syndrome Type 2	Short stature, Preaxial polydactyly, Hypospadias, Delayed puberty	ORPHA:141333
Alg8-Cdg	Abnormality of the gastrointestinal tract, Premature birth, Edema, Hydrops fetalis, Oligohydramni...	ORPHA:79325
Icf Syndrome	Recurrent respiratory infections, Depressed nasal bridge, Short stature, Malabsorption, Micrognat...	ORPHA:2268
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Renal hypoplasia, Cleft palate, High pa...	OMIM:246560
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Short neck, Downturned corners of mouth, High palate, ...	OMIM:300882
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Sacral dimple, Ventricular septal defect, Depressed nasal bridge, Short stature, Broad...	OMIM:619995
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Tricuspid regurgitation, Depressed nasal bridge, Dextrocardia, Cryptorc...	OMIM:618929
Fetal Gaucher Disease	Decreased fetal movement, Anteverted nares, Depressed nasal bridge, Fetal akinesia sequence, Hydr...	ORPHA:85212
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, C...	OMIM:615633
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
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou...	OMIM:225060
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Short stature, Accessory oral frenulum, Abnormality of the dent...	OMIM:258865
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Arachnodactyly, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Pectus carinatum, Ao...	OMIM:301039
3Mc Syndrome 3	Sacral dimple, Short stature, Cleft upper lip, Cryptorchidism, Preaxial polydactyly, Cleft palate...	OMIM:248340
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Overlapping toe, Ventricular septal defect, Depressed nasal bridge, Promine...	OMIM:618974
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Hemivertebrae, Coxa vara, Pectus carinatum, Gastroesophageal ref...	OMIM:614701
Trisomy 20P	Micrognathia, Short neck, Abnormal form of the vertebral bodies, Downturned corners of mouth, Ver...	ORPHA:261318
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Tetraploidy	Convex nasal ridge, Micrognathia, Renal hypoplasia/aplasia, Radial club hand, Cleft palate, Aplas...	ORPHA:3305
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Depressed nasal bridge, Abnormality of the kidney, Short stature, M...	ORPHA:459061
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Pectus excavatum, Lymphedema, Short...	OMIM:607131
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Pectus carinatum, Oligodontia, Prominent pa...	OMIM:272950
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of t...	OMIM:616738
7Q31 Microdeletion Syndrome	Atrial septal defect, Recurrent respiratory infections, Wide nasal ridge, Prominent nose, Hypopla...	ORPHA:251061
Desbuquois Syndrome	Severe short stature, Ventricular septal defect, Camptodactyly of finger, Anteverted nares, Coxa ...	ORPHA:1425
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern...	ORPHA:63260
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Micrognathia, Hypoplasia of the pons, Kyphosis, Interstitial emphysema, Bronc...	OMIM:619708
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongu...	OMIM:258860
Carey-Fineman-Ziter Syndrome 1	Micrognathia, Glossoptosis, High palate, Gastroesophageal reflux, Anteverted nares, Depressed nas...	OMIM:254940
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Chronic rhinitis	OMIM:617577
Acrofrontofacionasal Dysostosis	Hypospadias, Camptodactyly of finger, Micromelia, Broad nasal tip, Short stature, Non-midline cle...	ORPHA:1784
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Short stature, Micrognathia, ...	OMIM:250410
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d...	ORPHA:163979
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Short stature, Cleft upper lip, Pectus excavatum, Cleft palate, Palmoplant...	OMIM:268850
Frontoocular Syndrome	Prominent nasal bridge, Micrognathia, Pectus excavatum, Narrow philtrum, High palate, Pulmonic st...	OMIM:605321
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding,...	ORPHA:313892
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilater...	OMIM:618652
Cerebrofaciothoracic Dysplasia	Wide nose, Cerebellar vermis hypoplasia, Short stature, Polyhydramnios, Cleft upper lip, Short ne...	ORPHA:1394
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:277740
Acropectoral Syndrome	Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly	ORPHA:85203
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Anteverted nares, Micrognathia, Postnatal growth retardation, Patent ductu...	ORPHA:2306
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short stature, Micrognathia, Short neck, High, narrow palate, Supernumerary to...	ORPHA:1787
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Micromelia, Cryptorchidism, Abnormal rib morpholo...	ORPHA:2772
Marfan Syndrome	Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Pectus carinatum, Emp...	ORPHA:558
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Short stature, Choanal atresia, Cleft upper lip, Cryptorchidism, Anosmia, Cleft palate, Micropeni...	OMIM:147950
Pallister-Hall Syndrome	Ectopic kidney, Abnormal lung lobation, Depressed nasal ridge, Hemivertebrae, Atrial septal defec...	ORPHA:672
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Pectus excavatum, Cryptorchidism, Anosmia, Cleft pala...	OMIM:244200
Diprosopus	Abnormality of the nose, Non-midline cleft lip, Anencephaly, Cleft palate, Abnormal cardiac septu...	ORPHA:1681
8P Inverted Duplication/Deletion Syndrome	Micrognathia, Short neck, High, narrow palate, Clinodactyly of the 5th finger, Micropenis, Dandy-...	ORPHA:96092
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
Oculoauriculofrontonasal Syndrome	Encephalocele, Wide nose, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Cle...	ORPHA:398156
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge...	ORPHA:284169
Mosaic Trisomy 20	Micrognathia, Vertebral segmentation defect, Narrow chest, Limited pronation/supination of forear...	ORPHA:1724
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Trisomy 10P	Micrognathia, Hemivertebrae, Orofacial cleft, High palate, Gastroesophageal reflux, Abnormal hip ...	ORPHA:171929
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Vesicoureteral reflux, Broad hallux, Exaggerated cupid's bow, Hypospadias, Tapered ...	OMIM:618659
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po...	ORPHA:79113
Shprintzen-Goldberg Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the vertebral bodi...	ORPHA:2462
Costello Syndrome	Thickened nuchal skin fold, Ventricular septal defect, Abnormal dental enamel morphology, Depress...	ORPHA:3071
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Mitral valve prolapse, Oligodont...	OMIM:601216
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Wide nose, Ventricular septal defect, Prominent nasal brid...	ORPHA:3255
Bardet-Biedl Syndrome 7	Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Mal...	OMIM:615984
Intellectual Disability-Strabismus Syndrome	Polyhydramnios, Micrognathia, Prominent nose, Short neck, High palate, Gastroesophageal reflux, A...	ORPHA:363528
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Premature rupture of membranes, Oligodontia, Widely space...	OMIM:615873
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, Me...	ORPHA:99147
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Abnormally ossified vertebra...	ORPHA:3301
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc...	ORPHA:64754
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Schuurs-Hoeijmakers Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Cryptorchidism, Patent ductus arterios...	OMIM:615009
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micrognathia, Pectus carinatum, Short palm, Micropenis, Hypospadias, Anteverted nares, Depressed ...	ORPHA:171839
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L...	OMIM:253200
Phelan-Mcdermid Syndrome	Micrognathia, Lymphedema, High palate, Widely spaced teeth, Gastroesophageal reflux, Vesicoureter...	OMIM:606232
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Short metacarpal,...	OMIM:211350
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Convex nasal ridge, Micrognathia, Short neck, Tibial bowing, High palate, Short ...	ORPHA:251028
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Short stature, Long philtrum, Atrial septal defect, Pulmonar...	OMIM:300887
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Pectus excavatum, Coarctation of aorta, Hand polydacty...	ORPHA:261243
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Aortic regurgitation, Pneumonia, Oligosacchariduria, Macroglossia, Recurrent ...	ORPHA:309288
Thanatophoric Dysplasia Type 1	Micromelia, Polyhydramnios, Femoral bowing, Narrow chest, Atrial septal defect, Depressed nasal b...	ORPHA:1860
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Anteverted nares, Depressed nasal bridge, Premature birth, Protruding tongue, Gingival overgrowth...	OMIM:618797
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Vertebral segmentation defect, ...	ORPHA:96169
Severe Congenital Nemaline Myopathy	Decreased fetal movement, Hypospadias, Premature birth, Polyhydramnios, Edema of the dorsum of ha...	ORPHA:171430
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch...	OMIM:219000
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Anteverted nares, Underdeveloped nasal alae, Pierre-Robin seq...	OMIM:611961
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral...	OMIM:123700
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Cerebellar hypoplasi...	OMIM:616276
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Edema, Micrognathia, Short neck, Short metatarsal, Renal cyst, Widely space...	OMIM:266920
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Portal hy...	OMIM:216360
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, Depressed nasal ridge, Orofacial c...	OMIM:607872
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, T...	ORPHA:3201
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Increased density of lo...	OMIM:305620
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short metatarsal, Finger clinod...	OMIM:617137
Shprintzen-Goldberg Craniosynostosis Syndrome	Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Metaphyseal widening, Pectus cari...	OMIM:182212
Al Kaissi Syndrome	Thin upper lip vermilion, Sacral dimple, Macrodontia, Depressed nasal bridge, Short stature, Broa...	OMIM:617694
Bardet-Biedl Syndrome 5	Syndactyly, Micropenis, Polydactyly, Brachydactyly	OMIM:615983
Congenital Tracheal Stenosis	Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lun...	ORPHA:141127
3Mc Syndrome 2	Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Limited elbow movement, Cleft ...	OMIM:265050
Peroxisome Biogenesis Disorder 12A (Zellweger)	Decreased fetal movement, Prominence of the premaxilla, Short stature, Prominent nose, Patent duc...	OMIM:614886
Melkersson-Rosenthal Syndrome	Facial edema, Furrowed tongue	OMIM:155900
Congenital Myopathy 12	Decreased fetal movement, Arachnodactyly, Premature birth, Polyhydramnios, Fetal akinesia sequenc...	OMIM:612540
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn...	ORPHA:750
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e...	OMIM:614078
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous nose, Wide mouth, Macroglossia, Evert...	OMIM:616789
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Short stature, Oral-pharyngeal dysphagia, Micrognathia, A...	OMIM:610883
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Micrognathia, Short neck, Anteriorly placed anus, Downturned corners...	OMIM:217980
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Atrial septal defect, Arachnodactyly, Short stature, Micrognathia, Underdeveloped nasal alae, Hyp...	OMIM:300986
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Renal agenesis, Absent thumb, Short neck, Esophageal atresia, Patent d...	OMIM:300514
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Single transverse palmar crease, Polyhydramnios, Gastroesophageal reflux, ...	ORPHA:459070
Cerebellar-Facial-Dental Syndrome	Single transverse palmar crease, Micrognathia, Hypoplasia of the pons, Short neck, Abnormal T-wav...	ORPHA:444072
Sweeney-Cox Syndrome	Polyhydramnios, Micrognathia, Bilateral cryptorchidism, High palate, Short philtrum, Gastroesopha...	OMIM:617746
Keutel Syndrome	Recurrent respiratory infections, Wide nose, Ventricular septal defect, Depressed nasal bridge, S...	ORPHA:85202
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Thickened nuchal skin fold, Mitral atresia, Patent ductus arteriosus, Double outlet right ventric...	OMIM:618164
Lambotte Syndrome	Ventricular septal defect, Narrow mouth, Preaxial foot polydactyly, Retrognathia, Convex nasal ri...	OMIM:245552
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Intestinal malrotation, Portal hypertension, Hepatic cysts, Situs inversus t...	OMIM:208540
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Tricuspid regurgitation, Exaggerated cupid's bow, Ventricular septal...	OMIM:615879
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal gro...	ORPHA:3369
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Recurrent respiratory infections, Tented upper lip vermilion, Overlapping to...	OMIM:619383
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Anteverted nares, Tapered finger, Broad nasal tip, Kyphosis, Th...	OMIM:300602
Hartsfield Syndrome	Encephalocele, Depressed nasal bridge, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/H...	ORPHA:2117
Williams Syndrome	Periorbital edema, Abnormal form of the vertebral bodies, Nephrocalcinosis, Microdontia, Short st...	ORPHA:904
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl...	OMIM:614669
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Ventricular septal defect, Polyhydramnios, Micrognathia, Broad nasal ti...	ORPHA:1655
Behçet Disease	Gastrointestinal hemorrhage, Aortic regurgitation, Pericarditis, Renal insufficiency, Glomerulopa...	ORPHA:117
Lymphatic Malformation 13	Depressed nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pe...	OMIM:620244
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Short stature, Broad nasal tip, Preaxial hand polyd...	ORPHA:1297
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Chiari malformation	ORPHA:254351
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Situs inversus to...	ORPHA:1666
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,...	OMIM:141400
Noonan Syndrome 5	Mandibular prognathia, Depressed nasal bridge, Short stature, Polyhydramnios, Short neck, Cryptor...	OMIM:611553
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Short stature, Wide nasal bridge, High palate, Broad alveolar ridges, ...	OMIM:314320
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Premature birth, Cleft palate, Abnormal heart morphology, Clinodactyly of the 5th finger, Intraut...	ORPHA:231147
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Micrognathia, Carious teeth, Hypoplastic pubic bone, Flared metaph...	ORPHA:93346
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Hypoplasia of penis, Bilateral cryptorchidism, Muscular ventricular septal...	ORPHA:66634
Braddock Syndrome	Short stature, Unilateral renal agenesis, Micrognathia, Missing ribs, Preaxial hand polydactyly, ...	ORPHA:52047
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal ...	OMIM:618067
Neu-Laxova Syndrome	Micromelia, Micrognathia, Polyhydramnios, Depressed nasal ridge, Bifid uvula, Dandy-Walker malfor...	ORPHA:2671
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Thickened nuchal skin fold, Short femur, Tricuspid regurgitation, Cardiomegal...	OMIM:620306
Cerebrooculofacioskeletal Syndrome 4	Short stature, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Prominent nasal bridge,...	OMIM:610758
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ...	ORPHA:251014
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia, Cerebellar hypoplasia	OMIM:615228
Distal Duplication 17Q	Micrognathia, Pectus carinatum, High palate, Short philtrum, Vesicoureteral reflux, Renal duplica...	ORPHA:3379
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo...	ORPHA:453504
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Short stature, Polyhydramnios, Kyphoscoliosis, Patent ductus arteriosus, Hi...	OMIM:618005
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo...	ORPHA:352665
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Glossoptosis, Barrel-shaped chest, A...	ORPHA:94068
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Micrognathia, Short neck, Pectus carinatum, Shoulder disloca...	OMIM:245600
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dental crowding, Micrognathia, Premature rupture of membranes, Short philtrum, Narrow nasal ridge...	OMIM:618343
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Enlarged thorax...	ORPHA:163654
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Hypertensio...	OMIM:610205
2Q37 Microdeletion Syndrome	Short neck, Downturned corners of mouth, Short palm, Clinodactyly of the 5th finger, Broad colume...	ORPHA:1001
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ...	OMIM:272460
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly	OMIM:615991
Noonan Syndrome 10	Short neck, Pectus carinatum, High palate, Atrial septal defect, Short stature, Cryptorchidism, P...	OMIM:616564
Renal Agenesis	Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Renal age...	ORPHA:411709
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r...	ORPHA:950
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Edema of...	OMIM:601803
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, An...	ORPHA:1488
Peroxisome Biogenesis Disorder 2A (Zellweger)	Palpebral edema, Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cryptorchidi...	OMIM:214110
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Single transverse palmar crease, Micrognathia, Secundum atrial septal defect, Deep philtrum, Shor...	OMIM:619951
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Narrow nasal br...	ORPHA:3082
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Wide nose, Underdeveloped nasal alae, Cryptorchidism, Non-midline cleft lip, W...	ORPHA:1252
Distal Deletion 3P	Sacral dimple, Anteverted nares, Short stature, Micrognathia, Short neck, Cryptorchidism, Postaxi...	ORPHA:1620
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Jansen-De Vries Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Sho...	OMIM:617450
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Micrognathia, Underdeveloped na...	OMIM:616549
Vacterl With Hydrocephalus	Absence of the sacrum, Renal agenesis, Spina bifida, Micrognathia, Renal hypoplasia/aplasia, Cryp...	ORPHA:3412
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Anteverted nares, Short stature, Limited elbow moveme...	OMIM:615065
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Polyuri...	OMIM:615994
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Short stature, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism...	ORPHA:250999
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Blepharocheilodontic Syndrome 1	Choanal atresia, Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodo...	OMIM:119580
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus...	ORPHA:1225
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognat...	OMIM:616367
Kinsship Syndrome	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Downturned corn...	OMIM:619297
White Forelock With Malformations	Finger syndactyly, Atrial septal defect, Deep philtrum, Abnormal rib morphology, Clinodactyly of ...	ORPHA:2475
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Pectus carinatum, Atrioventricular canal defect, Spin...	ORPHA:500
Johnson Neuroectodermal Syndrome	Severe short stature, Choanal atresia, Carious teeth, Preaxial hand polydactyly, Bulbous nose, An...	ORPHA:2316
2Q32Q33 Microdeletion Syndrome	Decreased testicular size, Broad hallux phalanx, Arachnodactyly, Dental crowding, Anteverted nare...	ORPHA:251019
Variant Abeta2M Amyloidosis	Intestinal perforation, Cardiac amyloidosis, Abnormal vascular morphology, Chronic kidney disease...	ORPHA:314652
Renpenning Syndrome	Mandibular prognathia, Severe short stature, Macrodontia, Hypospadias, Prominent nose, Abnormal t...	ORPHA:3242
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip,...	OMIM:100300
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Atria...	ORPHA:261272
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Abnormal heart morphology, Sh...	ORPHA:254525
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Protruding tongue, Wide mouth, Widely spaced teeth, Dysphagia	ORPHA:98795
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Anteverted nares, Micrognathia, Narrow mouth, Short nose, Delayed eruption ...	OMIM:619356
Joubert Syndrome 15	Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis	OMIM:614464
Lateral Meningocele Syndrome	Dental crowding, Bicuspid aortic valve, Micrognathia, Short neck, Chiari type I malformation, Hig...	OMIM:130720
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Gingival fibromatosis, Gingiva...	ORPHA:1832
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnorm...	ORPHA:3138
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversio...	OMIM:610682
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Hypoplasia of the...	ORPHA:85279
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae...	OMIM:224690
Penile Agenesis	Fetal pyelectasis, Anorectal anomaly, Bilateral renal hypoplasia, Absent penis, Atrial septal def...	ORPHA:49
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short...	OMIM:600325
Distal Duplication 18Q	Thickened nuchal skin fold, Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Abnorma...	ORPHA:1716
Joubert Syndrome 10	Cerebellar vermis hypoplasia, Postaxial polydactyly, Deep philtrum, Wide nasal bridge, Growth del...	OMIM:300804
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,...	OMIM:129400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Mandibular prognathia, Abnormal renal glomerulus morphology, Renal insufficiency, Membranoprolife...	OMIM:137940
Rhizomelic Syndrome	Rhizomelia, Short stature, Bifid distal phalanx of the thumb, Micrognathia, Hip dislocation, Pulm...	OMIM:268250
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Opitz Gbbb Syndrome	Micrognathia, Vertebral segmentation defect, High palate, Atrial septal defect, Vesicoureteral re...	ORPHA:2745
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Polyhydramnios, Micrognathia, Ce...	OMIM:114290
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hip dislocation, ...	ORPHA:217346
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Increased nuchal translucency,...	OMIM:617635
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Micrognathia, Prominent interphalangeal joints, Aplasia/Hypoplasia of the capital femoral epiphys...	OMIM:215150
King-Denborough Syndrome	Decreased fetal movement, Lumbar hyperlordosis, Ventricular septal defect, Short stature, Kyphosc...	OMIM:619542
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Long nose, Cryptorchidism, Kyphosis, D...	ORPHA:2115
Vici Syndrome	Cerebellar vermis hypoplasia, Micrognathia, High palate, Atrial septal defect, Median cleft palat...	OMIM:242840
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Deep philtrum...	ORPHA:314655
Noonan Syndrome 7	Atrial septal defect, Depressed nasal bridge, Short stature, Short neck, Pectus excavatum, Pectus...	OMIM:613706
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Polyhydramnios, Micrognathia, Coxa vara, Narrow...	ORPHA:93316
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co...	OMIM:180700
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Bilobed right lung, Anencep...	OMIM:612284
You-Hoover-Fong Syndrome	Accessory oral frenulum, Kyphoscoliosis, Pectus excavatum, Cleft palate, Vascular ring, Coarctati...	OMIM:616954
Seckel Syndrome 1	Cerebellar vermis hypoplasia, Dental crowding, Abnormal finger flexion crease, Single transverse ...	OMIM:210600
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Chiari typ...	OMIM:114300
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Arachnodactyly, Dental crowding, Narrow mouth, Mitral valve prolapse, Long philtrum, Mitral regur...	OMIM:615539
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Renal hypoplasia/aplasia, Abnorma...	ORPHA:971
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Protruding tongue, Wide mouth, Widely spaced teeth, Dysphagia	ORPHA:411511
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Protruding tongue, Wide mouth, Widely spaced teeth, Scoliosis, Dysphagia	ORPHA:98794
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Micrognathia, Postnatal growth retardation, Cryptorchidism, Oligohydramn...	ORPHA:397590
Cog1-Cdg	Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Micrognathia, Short neck, Vertebr...	ORPHA:263508
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi...	ORPHA:1278
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist...	ORPHA:1234
Craniofrontonasal Syndrome	Short neck, Clinodactyly of the 5th finger, Broad hallux, Hypospadias, Short stature, Cleft upper...	OMIM:304110
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of ao...	OMIM:614857
Intellectual Developmental Disorder, Autosomal Dominant 43	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Tapered finger, Gingival over...	OMIM:616977
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Ventricular septal defect, Polysyndactyly of hallux, Aganglionic megac...	OMIM:235750
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Cerebellar vermis hypoplasia, Prominent nose, Abnormal periodontium m...	ORPHA:480880
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Micrognathia, Short neck, Tetraphocomelia, High palate, Atrial septal defect, Pho...	OMIM:268300
Coffin-Siris Syndrome	Aspiration pneumonia, Atrial septal defect, Hepatoblastoma, Thick nasal alae, Dandy-Walker malfor...	ORPHA:1465
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Micropenis, Short st...	OMIM:300534
Noonan Syndrome	Thickened nuchal skin fold, Short stature, Abnormal pulmonary valve morphology, Micrognathia, Pec...	ORPHA:648
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Premature birth, Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal lung lobation...	ORPHA:2063
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Short...	OMIM:617102
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate, Abnormal heart morphology, Intrauterine growth retardati...	OMIM:600252
Cornelia De Lange Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micromelia, Micrognathia, Short neck, Downturne...	ORPHA:199
Bardet-Biedl Syndrome 11	Polydactyly, Abnormality of the kidney	OMIM:615988
Scleromyxedema	Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi...	ORPHA:167635
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Submucous clef...	OMIM:222765
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Chiari type I malformation, Nephrocalcinosis, Gastroesoph...	OMIM:194050
Pycnodysostosis	Obtuse angle of mandible, Abnormal clavicle morphology, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:763
Naxos Disease	Sudden cardiac death, Cleft upper lip, Congestive heart failure, Cardiomyopathy, Palmoplantar ker...	ORPHA:34217
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, A...	ORPHA:2928
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Hydrolethalus	Premature birth, Micromelia, Micrognathia, Polyhydramnios, Cryptorchidism, Postaxial hand polydac...	ORPHA:2189
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, High, narrow palate, High palate, Short philtrum, Gastroesophageal...	OMIM:619312
H Syndrome	Hallux valgus, Short stature, Abnormality of the kidney, Cleft upper lip, Malabsorption, Recurren...	ORPHA:168569
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Premature birth, Polyhydramnios, Renal hypoplasia/aplasia, Patent ductus art...	ORPHA:2123
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia, Bilateral talipes equinovarus, Cerebellar hypoplasia, Short stature	OMIM:618174
Lambert Syndrome	Ventricular septal defect, Hypospadias, Wide mouth, Branchial anomaly, Aplasia/Hypoplasia of the ...	ORPHA:1296
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Mucopolysaccharidosis-Plus Syndrome	Short neck, Metaphyseal widening, Pectus carinatum, Atrial septal defect, Nephritis, Recurrent br...	OMIM:617303
Rabson-Mendenhall Syndrome	Mandibular prognathia, Atrial septal defect, Wide nose, Dental crowding, Ventricular septal defec...	ORPHA:769
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Cleft hard palate, ...	ORPHA:166016
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Postnatal growt...	ORPHA:96184
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carina...	OMIM:615777
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Depressed nasal ridge, High palate, Short philtrum, Camptoda...	ORPHA:261337
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Abnormal rib ca...	OMIM:217100
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Short stature, Short neck, Pectus excavatum, Cleft lip, Deep ...	OMIM:618571
Noonan Syndrome 8	Atrial septal defect, Ventricular septal defect, Short stature, Polyhydramnios, Short neck, Crypt...	OMIM:615355
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic...	ORPHA:99094
Fanconi Anemia	Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t...	ORPHA:84
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Uppe...	ORPHA:496689
Microphthalmia, Syndromic 1	Dental crowding, Abnormal palmar dermatoglyphics, Bicuspid aortic valve, High, narrow palate, Rec...	OMIM:309800
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Unilateral renal ag...	OMIM:617190
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Femoral retroversion, Cleft upper lip, Kyphoscoliosis, Cleft palate, Pseudo...	OMIM:607371
Feingold Syndrome 1	Polyhydramnios, Micrognathia, High palate, Anteverted nares, Short thumb, Short toe, Esophageal a...	OMIM:164280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Overriding aorta, Miss...	ORPHA:3186
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Abnormal cerebral vascular morphology, Prominent nose, Coxa vara, Hypoplastic iliac w...	ORPHA:2637
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Secundum atrial septal defect, Oral ulcer, Neonatal omphalitis, ...	OMIM:612541
Dysostosis, Stanescu Type	Micromelia, Short neck, Hypoplasia of the maxilla, Short stature, Abnormal dental enamel morpholo...	ORPHA:1798
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Short stature, Bifid nasal tip, Pectus excavatum, Bilatera...	OMIM:618874
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Mult...	OMIM:615508
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, R...	ORPHA:397
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of the dentition, Hypoplasia of the pons, Hydrops fetalis, Growth delay, Cardiomyopat...	ORPHA:88618
Epilepsy, Progressive Myoclonic, 9	Short thumb, Microglossia, Scoliosis	OMIM:616540
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Thin upper lip vermilion, Anteverted nares, Single transverse palmar cr...	OMIM:613443
Cardiospondylocarpofacial Syndrome	Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, Mitral valve pr...	ORPHA:3238
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Oligosacchariduria, Downturned corners of mouth, High palate, Narrow ch...	ORPHA:163649
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Renal Hypodysplasia/Aplasia 4	Bilateral renal agenesis, Pulmonary hypoplasia, Anhydramnios	OMIM:619887
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Cleft palate, Cleft upper lip	OMIM:120433
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ...	OMIM:620107
Atelis Syndrome 1	Ventricular septal defect, Prominent nose, Carious teeth, Bronchiectasis, Lumbar kyphosis, High p...	OMIM:620184
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Genu valgum, Anal atresia, Tetralogy of Fallot,...	ORPHA:1381
Legius Syndrome	Micrognathia, Pectus excavatum, High, narrow palate, Short neck, Supravalvar pulmonary stenosis, ...	OMIM:611431
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Proximal femoral metaphyseal...	ORPHA:397715
Renal Hypodysplasia/Aplasia 2	Bilateral renal agenesis, Pulmonary hypoplasia, Anhydramnios	OMIM:615721
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Microretrognathia, Wide nose, Rocker bottom foot, Wide nasal bridge, Dysphagi...	ORPHA:89844
Seckel Syndrome 5	11 pairs of ribs, Hypospadias, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Sh...	OMIM:613823
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Short neck, Glandular hypospadias, Downtu...	OMIM:136140
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Atrial septal d...	ORPHA:857
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Micrognathia, Secundum atrial septal defect, Prominent nose, Long hallux, Pectus c...	OMIM:620194
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Severe short stature, Anterior rib cupping, Hyperlordo...	OMIM:184250
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic il...	OMIM:611717
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Mend Syndrome	Microretrognathia, Crossed fused renal ectopia, Sacral dimple, Overlapping toe, Broad hallux, Pro...	OMIM:300960
Megabladder, Congenital	Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non...	OMIM:618719
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Micrognath...	ORPHA:1300
Okamoto Syndrome	Tented upper lip vermilion, Urinary incontinence, Primum atrial septal defect, Downturned corners...	ORPHA:2729
1P36 Deletion Syndrome	Hypoplasia of penis, Depressed nasal ridge, Renal cyst, Gastroesophageal reflux, Clinodactyly of ...	ORPHA:1606
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Omodysplasia 1	Micrognathia, Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Increased fib...	OMIM:258315
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge...	ORPHA:2662
Myopathy, Centronuclear, 5	Hip contracture, Micrognathia, Dilated cardiomyopathy, Mitral regurgitation, High palate, Narrow ...	OMIM:615959
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hepatoblastoma, Cleft upper ...	ORPHA:50
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Severe short stature, Micrognathia, Hyperlordosis, High, narrow palate...	ORPHA:2780
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Brachydactyly, Anteverted nares, Depressed nasal bridge, Increased i...	OMIM:618961
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Ectopic kidney, Prominent interphalangeal joints,...	OMIM:135900
Van Maldergem Syndrome 2	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi...	OMIM:615546
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion	OMIM:619462
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Micrognathia, Cryptorch...	ORPHA:261250
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short meta...	OMIM:305600
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud...	ORPHA:73246
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vert...	ORPHA:93262
Angelman Syndrome	Abnormality of the gastrointestinal tract, Mandibular prognathia, Protruding tongue, Wide mouth, ...	ORPHA:72
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolytic-uremic syndrome, Di...	ORPHA:79282
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Syndactyly, Cerebellar vermis hypoplasia, Short stature, Patent ductus ...	OMIM:619869
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short lingual frenulum, Polyhydramnios, Downturned corners of mouth, Short philtrum, Gastroesopha...	OMIM:617360
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of th...	ORPHA:3107
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp...	ORPHA:894
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Premature birth, Bilateral cryptorchidism, Preaxial hand polyda...	ORPHA:96179
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
X Small Rings	Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Antev...	ORPHA:96201
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Micrognathia, Wrist swelling, Hypo...	OMIM:166300
Alkuraya-Kucinskas Syndrome	Cerebellar dysplasia, Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Pe...	OMIM:617822
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Severe short stature, Anteverted nares, Missing ribs, Short nec...	ORPHA:1797
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Recurrent respiratory infections, Severe short stature, Ventricular septal ...	ORPHA:3047
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, Pectus excav...	OMIM:300676
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Weill-Marchesani Syndrome	Ventricular septal defect, Short stature, Short thumb, Mitral regurgitation, Pulmonic stenosis, A...	ORPHA:3449
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Polyhydramnios, Edema, Macroglossia, Short long bone, Narrow chest, Fla...	ORPHA:1423
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue...	OMIM:258850
Osteoglophonic Dysplasia	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Facial Clefting, Oblique, 1	Deep palmar crease, Cleft palate, Cleft upper lip	OMIM:600251
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn...	OMIM:613680
Wolcott-Rallison Syndrome	Metaphyseal dysplasia, Renal insufficiency, Short stature, Chronic kidney disease, Dehydration, G...	ORPHA:1667
X-Linked Mandibulofacial Dysostosis	Short stature, Prominent nasal bridge, Micrognathia, Pectus excavatum, Cryptorchidism, Branchial ...	ORPHA:1131
Trisomy 9P	Brachydactyly, Sacral dimple, Dental crowding, Short neck, Abnormal nasal morphology, Kyphosis, N...	ORPHA:236
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Short neck, Deep philtrum,...	OMIM:115150
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Limb Body Wall Complex	Amniotic constriction ring, Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the pro...	ORPHA:2369
Treacher-Collins Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Encephal...	ORPHA:861
Musculocontractural Ehlers-Danlos Syndrome	Decreased palmar creases, Cervical kyphosis, Functional abnormality of the bladder, Abnormal ster...	ORPHA:2953
Hydrops Fetalis, Nonimmune	Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Anophthalmia Plus Syndrome	Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bi...	ORPHA:1104
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala...	ORPHA:221120
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Short neck, High, narrow palate, Cryptorchidis...	ORPHA:488632
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie...	OMIM:224300
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Abnormal dentate nucleus morphology, Agenesis of cerebellar...	ORPHA:59315
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Epiphyseal stippling, Wide nasal bridge, Renal cyst	OMIM:614870
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Choanal...	OMIM:241310
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Cerebellar vermis hypoplasia, Single transverse p...	OMIM:619841
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula	OMIM:619239
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Patent ductus art...	ORPHA:1112
Congenital Disorder Of Glycosylation, Type Ig	Edema, Polyhydramnios, Short philtrum, Short tibia, Micropenis, Patent foramen ovale, Rhizomelia,...	OMIM:607143
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Ventricular sept...	ORPHA:2255
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypoplasia of the premax...	ORPHA:2166
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Arachnodactyly, Short stature, Kyphoscoliosis, Palmoplantar cutis gyrata, Cryptorchidis...	ORPHA:75496
Rere-Related Neurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Hypospadias, Anteverted nares, Micrognat...	ORPHA:494344
Snijders Blok-Campeau Syndrome	Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, Perimembranous ...	OMIM:618205
Noonan Syndrome 1	Micrognathia, Lymphedema, High, narrow palate, Short neck, Abnormal sternum morphology, High pala...	OMIM:163950
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip, High, narrow palate, Depr...	OMIM:607597
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:304120
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ...	OMIM:620210
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Sinusitis, Micrognathia, Malar prominence, Long nose, Deep philtrum,...	OMIM:251260
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Short stature, Postnatal growth retardation, Upper limb asymmetry, High palate, ...	ORPHA:231140
Scheie Syndrome	Aortic regurgitation, Wide mouth, Mucopolysacchariduria, Thick vermilion border, Everted lower li...	ORPHA:93474
Nuchal Bleb, Familial	Stillbirth, Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna...	ORPHA:959
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Wide nose, Micrognathia, Abnormality of the dentition, Recurren...	OMIM:618282
Renal Agenesis, Bilateral	Fetal polyuria, Renal agenesis, Non-midline cleft lip, Abnormal sacrum morphology, Depressed nasa...	ORPHA:1848
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m...	ORPHA:1071
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Buratti-Harel Syndrome	Atrial septal defect, Dilation of Virchow-Robin spaces, Broad hallux, Hypospadias, Cryptorchidism...	OMIM:619314
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Renal hypoplasia, Small then...	OMIM:618914
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Congenital hip dislocation, Ventricular septal defect, Rocker bottom fo...	ORPHA:3078
Opsismodysplasia	Edema, Polyhydramnios, Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ...	OMIM:258480
8P11.2 Deletion Syndrome	Hypoplasia of penis, Sacral dimple, Depressed nasal bridge, Short stature, Micrognathia, Cryptorc...	ORPHA:251066
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle...	ORPHA:246
Fraser Syndrome	Hypoplasia of penis, Cleft ala nasi, Dental crowding, Abnormal lung lobation, Orofacial cleft, Ur...	ORPHA:2052
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Short stature, Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Pu...	OMIM:613312
Atelosteogenesis, Type I	Polyhydramnios, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal...	OMIM:108720
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, High palate, Atrial se...	OMIM:244450
Van Maldergem Syndrome 1	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi...	OMIM:601390
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Anteverted nares, Aplasia/Hypoplasia of the tongue, Polyhydramn...	ORPHA:1790
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb...	OMIM:252940
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Temple Syndrome	Wide nose, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Premature birth...	OMIM:616222
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Atrial septal ...	OMIM:613458
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Meningocele, P...	ORPHA:1827
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Micromelia, Short neck, Postaxial hand polydactyly, Hypoplasia of the small in...	OMIM:200995
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Gastroesophageal reflux, As...	ORPHA:444077
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Woods Syndrome	Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Wide...	OMIM:615236
Alazami Syndrome	Wide nose, Postnatal growth retardation, Wide mouth, Slender long bone, Thick vermilion border, S...	ORPHA:319671
Aicardi Syndrome	Cerebellar vermis hypoplasia, Proximal placement of thumb, Hemivertebrae, Hepatoblastoma, Dandy-W...	OMIM:304050
Fetal Encasement Syndrome	Bilateral trilobed lung, Decreased fetal movement, Upper limb undergrowth, Horseshoe kidney, Incr...	OMIM:613630
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Lymphedema, Downturned corners of mouth,...	ORPHA:487796
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Submucous cleft hard palate, ...	OMIM:619122
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu...	ORPHA:45452
Joubert Syndrome 37	Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Short stature, Postaxial polydactyly, ...	OMIM:619185
Cardiofaciocutaneous Syndrome	Lymphedema, Short neck, High palate, Atrial septal defect, Anteverted nares, Abnormal morphology ...	ORPHA:1340
Prader-Willi Syndrome Due To Translocation	Micrognathia, Prominent nose, Short neck, Downturned corners of mouth, High palate, Clinodactyly ...	ORPHA:177907
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Premature birth, Abnorm...	ORPHA:2165
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short stature, Abn...	ORPHA:2994
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Cardiomegaly, High palate, Antenatal intracerebral hemorrhage, Long toe, Lo...	OMIM:608836
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Meester-Loeys Syndrome	Aortic dissection, Arachnodactyly, Short stature, Gingival overgrowth, Mitral valve prolapse, Cer...	OMIM:300989
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Arachnodactyly, Depressed nasal bridge, Arterial tortuosity, Microg...	OMIM:614437
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Hardikar Syndrome	Premature rupture of membranes, Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, P...	OMIM:301068
Thoracoabdominal Syndrome	Hypospadias, Renal agenesis, Cleft upper lip, Patent ductus arteriosus, Anencephaly, Cleft palate...	OMIM:313850
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal lung morphology, Abnormal femur morphology, Abnormal form of the ve...	ORPHA:464329
15Q14 Microdeletion Syndrome	Ventricular septal defect, Prominent nasal bridge, Short stature, Abnormality of the dentition, K...	ORPHA:261190
Gillespie Syndrome	Cerebellar atrophy, Truncus arteriosus, Cerebellar hypoplasia	OMIM:206700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticomedullary differ...	OMIM:263200
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short stature, Short neck, Pectus excavatum, Wide mouth, Pulmonic sten...	OMIM:615279
Marbach-Rustad Progeroid Syndrome	Prominent superficial veins, Femur fracture, Short stature, Delayed eruption of primary teeth, Mi...	OMIM:619322
Holt-Oram Syndrome	Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm...	OMIM:142900
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Unilateral cryptorchidism, Abnormal pulmonary valve morphology, Broad n...	ORPHA:137634
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Abnormality of the ki...	ORPHA:166119
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi...	OMIM:101800
Orofaciodigital Syndrome Type 14	Short neck, Bilateral cryptorchidism, Epispadias, Aplasia of the epiglottis, Lobulated tongue, Da...	ORPHA:434179
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Hypospadias, Absent thumb, Cario...	ORPHA:96097
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Broad thumb, Smooth ph...	OMIM:614526
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shape...	OMIM:271665
Gabriele-De Vries Syndrome	Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Abnormality of the dentition, Micr...	OMIM:617557
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebellar atrophy, Nonimmune hydrops fetalis, Dysphagia	ORPHA:477774
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of...	OMIM:250460
Chromosome 19Q13.11 Deletion Syndrome, Distal	Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Hyposp...	OMIM:613026
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Decreased fetal movement, Hydranencephaly, Camptodactyly of finger, Abnormal pleura morphology, M...	ORPHA:2570
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:614651
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal vertebral morpholo...	ORPHA:93473
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep...	ORPHA:1529
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Pectus carinatum, Downturned corners of mouth, Clinodactyly of the 5th finger, Bilateral single t...	ORPHA:488642
Bent Bone Dysplasia Syndrome 2	Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia, Micropenis...	OMIM:620076
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Farber Disease	CNS foam cells, Short stature, Abnormality of the hand, Nodular pattern on pulmonary HRCT, Atelec...	ORPHA:333
Stickler Syndrome, Type I	Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Pectus excavatum, Kyphosi...	OMIM:108300
Holoprosencephaly 14	Cerebellar atrophy, Median cleft lip, Ventricular septal defect, Anteverted nares, Proboscis, Cle...	OMIM:619895
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Depressed nasal bridge, Short hallux, Proximal placement of...	ORPHA:90650
Cerebellofaciodental Syndrome	Ventricular septal defect, Single transverse palmar crease, Short stature, Tapered finger, Hypopl...	OMIM:616202
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border...	ORPHA:544254
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Ante...	OMIM:151050
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Cardiomegaly, Prominent nose, High, narrow palate, Short philtrum, Widely spaced...	OMIM:300967
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Hartnup Disorder	Glossitis, Short stature, Neutral hyperaminoaciduria	OMIM:234500
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae,...	ORPHA:96121
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal...	ORPHA:93307
Fanconi Anemia, Complementation Group F	Sacral dimple, Short stature, Pneumonia, Polyhydramnios, Absent thumb, Placental abruption, Crypt...	OMIM:603467
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Pulmonary embolism, Short neck, Depressed nasal ridge...	ORPHA:96264
10Q22.3Q23.3 Microdeletion Syndrome	Intestinal polyposis, Curved middle phalanx of the 4th toe, Microretrognathia, Arachnodactyly, An...	ORPHA:276413
Arboleda-Tham Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corner...	OMIM:616268
Cranioectodermal Dysplasia 3	Sandal gap, Rhizomelia, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Short stature, 2...	OMIM:614099
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:129900
Pseudoachondroplasia	Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip...	OMIM:177170
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Orofacial cleft, Atrial septal defect, Clinodactyly of the 5th finger, Advanced e...	ORPHA:1519
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, High, narrow palate, ...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, High, narrow palate, ...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, High, narrow palate, ...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Micrognathia, Ectopic kidney, High, narrow palate, ...	ORPHA:881
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Pectus carinatum, Abnormal sternum morphology,...	OMIM:613795
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Hypospadias, Short stature, Malar promi...	ORPHA:2522
Wiedemann-Rautenstrauch Syndrome	Congenital malformation of the left heart, Wide penis, Downturned corners of mouth, Chiari type I...	ORPHA:3455
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Decreased fetal movement, Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Short...	OMIM:614207
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Predominantly lower limb lymphed...	ORPHA:33001
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Short stature, Pectus excavat...	ORPHA:52055
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:604292
Chops Syndrome	Ventricular septal defect, Anteverted nares, Short stature, Cryptorchidism, High, narrow palate, ...	OMIM:616368
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Short neck, Downturned corners of mouth, Short philtrum, Hig...	OMIM:616364
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Oliguria, Heart murmur, Stroke, Bacterial ...	ORPHA:1054
Lethal Congenital Contracture Syndrome 1	Edema, Micrognathia, Abnormal thorax morphology, Abnormality of the amniotic fluid, Pulmonary hyp...	OMIM:253310
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Premature birth, Polyhydramnios, Thick lower lip vermilion, Wide nasal bridge, Wide mouth, Nephro...	OMIM:611087
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ...	OMIM:601812
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Fetal akinesia sequence, Congesti...	ORPHA:367
Fraser Syndrome 3	Sonographic non-visualized fetal bladder, Hypoplasia of the bladder, Hypoplasia of penis, Wide no...	OMIM:617667
Distal Deletion 6P	Atrial septal defect, Wide nose, Anteverted nares, Depressed nasal bridge, Abnormality of the den...	ORPHA:96125
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Tented upper lip vermilion, Polyhydramnios, Congestive heart failure, Wide mouth, Nephrocalcinosi...	ORPHA:500533
Meier-Gorlin Syndrome 5	Short stature, Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiphysis, Pate...	OMIM:613805
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Micrognathia, Clinodactyly, Prominent fingertip pads, Broad hallux, Cleft ...	OMIM:618529
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:218350
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, High palate, Short philtrum, Atrial septal defect, Clinodact...	OMIM:309500
Lethal Congenital Contracture Syndrome 9	Thin upper lip vermilion, Thoracic kyphoscoliosis, Ulnar deviation of the hand, Anteverted nares,...	OMIM:616503
Free Sialic Acid Storage Disease	Recurrent respiratory infections, Proteinuria, Hydrops fetalis, Nephrotic syndrome, Abnormality o...	ORPHA:834
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Nephroblastoma, Short neck, Palmar...	ORPHA:77301
Warsaw Breakage Syndrome	Ventricular septal defect, Single transverse palmar crease, Postnatal growth retardation, 2-3 toe...	OMIM:613398
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Anteverted nare...	OMIM:616331
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Short stature, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of...	ORPHA:163966
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art...	ORPHA:51608
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin upper lip vermilion, Atrial septal defect, Tented upper lip vermilion, Depressed nasal bridg...	OMIM:620075
Reactive Arthritis	Aortic regurgitation, Pericarditis, Recurrent urinary tract infections, Abnormal pleura morpholog...	ORPHA:29207
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Cryptorchidism, Postaxial hand pol...	ORPHA:65759
Mandibuloacral Dysplasia Progeroid Syndrome	Micrognathia, Palmoplantar hyperkeratosis, High palate, Short philtrum, Patent foramen ovale, Tri...	OMIM:619127
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Cerebellar atrophy, Protruding tongue	OMIM:619580
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cerebellar hypoplasia, Neonatal death,...	OMIM:613730
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Proteinuria, Abnormal palmar dermatoglyphics, Postnatal growth retardation,...	ORPHA:2728
Alagille Syndrome 1	Long nose, Multiple small medullary renal cysts, Hemivertebrae, Vesicoureteral reflux, Atrial sep...	OMIM:118450
8p23.1 deletion syndrome	Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Congenital Rubella Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Intraut...	ORPHA:290
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi...	OMIM:613686
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aortic valve, Urin...	ORPHA:261537
Renal Hypodysplasia/Aplasia 1	Proteinuria, Anhydramnios, Hypertension, Bilateral renal agenesis, Pulmonary hypoplasia, Talipes ...	OMIM:191830
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the pon...	OMIM:619909
Peutz-Jeghers Syndrome	Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Stom...	ORPHA:2869
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Waardenburg Syndrome Type 3	Narrow nasal bridge, Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, Abnormal f...	ORPHA:896
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Anteverted nares, Postaxial polydactyly, Unilateral ren...	OMIM:616362
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
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Polyhydramnios, Sh...	OMIM:218040
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Choanal atresia, Protruding tongue, Micrognathia, Pectus excavatum,...	ORPHA:98889
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Tetraamelia Syndrome 1	Renal agenesis, Choanal atresia, Micrognathia, Cleft upper lip, Single naris, Peripheral pulmonar...	OMIM:273395
Isolated Dandy-Walker Malformation	Encephalocele, Dandy-Walker malformation, Tetralogy of Fallot, Cleft palate	ORPHA:217
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Cerebellar atrophy, Mandibular prognathia, Tricuspid regurgitation, Short stature, Prominent nasa...	OMIM:619576
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Dental crowding, Ventricular septal defect, Micrognathia, Pectus excav...	ORPHA:2789
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Respiratory tract infection, 2-3 toe syn...	OMIM:218000
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,...	OMIM:616007
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Hemivertebrae,...	ORPHA:500150
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Premature birth, Postaxial polydactyly, Polyhydra...	OMIM:219730
Congenital Enterovirus Infection	Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M...	ORPHA:292
Diamond-Blackfan Anemia 10	Ventricular septal defect, Choanal atresia, Short stature, Micrognathia, Ectopic kidney, Patent d...	OMIM:613309
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Short stature, Micrognathia, Cleft palate, Genu valgum, Irregular vertebral...	ORPHA:250984
Ctcf-Related Neurodevelopmental Disorder	Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger, Gastroesoph...	ORPHA:363611
Weiss-Kruszka Syndrome	Exaggerated cupid's bow, Single transverse palmar crease, Proximal placement of thumb, Bicuspid a...	OMIM:618619
Branchial Arch Syndrome, X-Linked	Short stature, Cryptorchidism, High, narrow palate, High palate, Pulmonic stenosis	OMIM:301950
Slc35A2-Cdg	Cerebellar atrophy, Thickened nuchal skin fold, Short stature, Camptodactyly of finger, Abnormali...	ORPHA:356961
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, Patent ductus arteriosus, ...	ORPHA:2519
Den Hoed-De Boer-Voisin Syndrome	Ventouse delivery, Widely spaced teeth, Gastroesophageal reflux, Caesarian section, Amelogenesis ...	OMIM:619229
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Right atrial enlargement, Rib osteolysis, ...	OMIM:614008
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Cryptorchidism, Effo...	ORPHA:3282
Werner Syndrome	Renal neoplasm, Telangiectasia of the skin, Rocker bottom foot, Abnormal cerebral vascular morpho...	ORPHA:902
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami	OMIM:141300
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Wid...	OMIM:601499
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Thoracic scoliosis, Bilateral cleft lip, Short neck, Pectus excavatum, Shield chest	OMIM:616994
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea...	ORPHA:2091
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Renal malrotation, Ventricular septal defect, Bowing of the legs, Renal cyst, Mi...	OMIM:617107
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Back pain, Multiple renal cysts, Gastroesophageal reflux, Vascular d...	ORPHA:2924
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Anteverted nares, Rocker bottom...	OMIM:301041
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Equinus calcaneus, Micrognathia, Prominent veins on trunk, Shoulder dislocati...	ORPHA:536532
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micr...	OMIM:224400
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch...	OMIM:250220
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Crowded maxillary inc...	ORPHA:397973
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic k...	OMIM:614527
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Convex nasal ridge, Cryptorchi...	ORPHA:85284
Mitral Valve Prolapse 1	Reversed usual vertebral column curves, Pectus excavatum, High, narrow palate, Mitral valve prola...	OMIM:157700
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Short stature, Bilateral cryp...	OMIM:300472
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease...	OMIM:269150
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the maxill...	ORPHA:1101
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Abnormal mitral valve morphology, Short stature, Prominent nose, Wide nasal...	ORPHA:1292
Al-Raqad Syndrome	Thin upper lip vermilion, Sandal gap, Narrow mouth, Atrial septal defect, Short nose, Brachydactyly	OMIM:616459
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Intestinal...	OMIM:616201
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux,...	OMIM:613803
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Micrognathia, High, narrow palate, Downturned corners of mouth, Gastroesophageal...	ORPHA:96182
Transaldolase Deficiency	Ventricular septal defect, Depressed nasal bridge, Short neck, Deep philtrum, Patent ductus arter...	OMIM:606003
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Telangiectasia of the skin, Micr...	ORPHA:1556
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Atrial septal defect, Depressed nasal bridge, Short stature, High, n...	ORPHA:79076
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Hypertension, Mit...	OMIM:173900
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Barrel-shaped chest, Hip contracture, Vertebral fusion, Ventricular septal defect, Tarsal synosto...	OMIM:178110
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine...	ORPHA:364577
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Thin upper lip vermilion, Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syn...	OMIM:619121
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ...	ORPHA:1782
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Hypospadias, Cryptorchidism, Polydactyly, Intrauterine growth retardation...	OMIM:616910
Kabuki Syndrome	Hypoplasia of penis, Hemivertebrae, Orofacial cleft, Abnormal form of the vertebral bodies, High ...	ORPHA:2322
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Foot p...	ORPHA:210548
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary ...	OMIM:601389
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Prominent superficial veins, Thoracic scoliosis, Carotid artery stenosis, Microgna...	OMIM:618000
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pectus excavatum, Hip dysplasia, Clinodac...	ORPHA:3375
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Edema, Renal cyst, Gastrointestinal inflamma...	ORPHA:79404
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Anteverted nares, Short stature, Underdeveloped nasal alae, Meningo...	ORPHA:2031
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Deep philtrum, Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Wide mo...	OMIM:617260
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon...	ORPHA:140976
Noonan Syndrome 3	Hypoplastic nasal bridge, Ventricular septal defect, Anteverted nares, Short stature, Polyhydramn...	OMIM:609942
Atelis Syndrome 2	Sacral dimple, Single transverse palmar crease, Micrognathia, Diastema, Prominent nose, Patent du...	OMIM:620185
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias, Choanal atresia, Polyhydramnios, Esophageal atresia, Trac...	ORPHA:1923
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aortic valve, Urin...	ORPHA:2152
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Hypoplasia of the pons, Atrial septal defect, Ventricular septal defect	OMIM:614249
Jacobsen Syndrome	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Hypospadias, A...	OMIM:147791
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Abnormal tibia morphology, High palate, Atrial septal defect, Abnormal d...	ORPHA:363700
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Anteverted nares, Choanal a...	ORPHA:280200
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Pulmonary embolism, Short neck, Depressed nasal ridge...	ORPHA:96263
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death	OMIM:276822
Megalencephaly	Atrial septal defect, Short neck, Long penis, Wide nasal bridge, Genu valgum, Macroorchidism	ORPHA:2477
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Prominent nose, Bilateral cryptorchidism, High, narrow palate, Chiari type I mal...	ORPHA:466791
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc...	OMIM:608728
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Bilat...	OMIM:613457
Hb Bart'S Hydrops Fetalis	Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios	ORPHA:163596
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aortic valve, Urin...	ORPHA:261552
Fibrochondrogenesis 2	Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w...	OMIM:614524
Monosomy 18P	Short stature, Kyphoscoliosis, Micrognathia, Carious teeth, Pectus excavatum, Lymphedema, Short n...	ORPHA:1598
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Thoracic hypoplasia, Congestive heart failure, Short long bone, Stillbi...	OMIM:619751
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota...	OMIM:267010
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ...	OMIM:614922
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Cryptorchidism, Pa...	ORPHA:77298
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Depressed nasal bri...	OMIM:619736
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Recurrent respiratory infections, Short femur, Abnormal mitochondrial shape, Hypos...	ORPHA:17
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma...	ORPHA:87
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur...	ORPHA:534
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Short stature, Absent thumb, Short neck, Short thumb, Patent foramen o...	OMIM:609053
Thakker-Donnai Syndrome	Ventricular septal defect, Anteverted nares, Short neck, Bulbous nose, Hemivertebrae, Tracheoesop...	ORPHA:1780
Parietal Foramina 1	Encephalocele, Cleft palate, Cleft upper lip	OMIM:168500
Gapo Syndrome	Mandibular prognathia, Abnormal clavicle morphology, Abnormal cerebral vascular morphology, Micro...	ORPHA:2067
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Townes-Brocks Syndrome 1	Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defect, Vesicourete...	OMIM:107480
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Rhizomelia, Ulnar deviation of the wrist, Allergic rhinitis, Pectus excavat...	OMIM:618162
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, ...	OMIM:614120
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition, Short di...	ORPHA:2776
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Anteverted n...	OMIM:602782
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Tibial bowing, Spina bifida occulta, Long hallux, Multicystic kidney dysplasia, Varicose veins, L...	ORPHA:500095
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Open mouth, Ventricular septal defect, Decreased fetal movement	OMIM:616816
Campomelic Dysplasia	Micrognathia, Short neck, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia,...	ORPHA:140
Multiple Pterygium-Malignant Hyperthermia Syndrome	Polyhydramnios, Amniotic constriction ring, Downturned corners of mouth, Advanced eruption of tee...	ORPHA:2215
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Myocarditis, Congestive heart ...	ORPHA:2331
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Cronkhite-Canada Syndrome	Intestinal polyposis, Tapered finger, Malabsorption, Lymphedema, Hypogeusia, Furrowed tongue, Ham...	ORPHA:2930
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Pectus carinatum, Thoracic kyphosis, Atrial septal defect, Patent foramen ovale, Barr...	ORPHA:505248
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Hypoplasia ...	ORPHA:178303
1Q44 Microdeletion Syndrome	Exaggerated cupid's bow, Intestinal malrotation, Short stature, Micrognathia, Horseshoe kidney, G...	ORPHA:238769
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d...	OMIM:619769
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Depressed nasal bridge, Lumbar hyperlordosis, Apl...	OMIM:146000
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, Micrognathia	OMIM:601809
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Micrognathia, Oligohydramnios, Dehydration, Nephrocalcinosis, Renal tu...	OMIM:208085
Joubert Syndrome 7	Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,...	OMIM:611560
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Polyhydramnios, Downturned corners of mouth, High palate, Widely spaced teeth, G...	OMIM:618268
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Polyhydramnios, Facial edema, Epiphyseal stippling, Cerebellar hypoplasia, Tali...	ORPHA:86822
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Polyhydramnios, Micrognathia...	OMIM:620186
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinatum, Aortic root an...	OMIM:619910
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Kabuki Syndrome 1	Congenital hip dislocation, Micrognathia, High palate, Atrial septal defect, Prominent fingertip ...	OMIM:147920
Acrocephalopolydactyly	Short neck, Abnormal renal morphology, Depressed nasal ridge, Short long bone, Limb undergrowth, ...	ORPHA:221054
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue	OMIM:620352
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Dental crowding, Polyhydramnios, Micrognathia, Cleft hard palate, Short neck, Nephrocalcinosis, C...	OMIM:300990
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou...	OMIM:236700
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Cleft palate, Cleft upper lip	ORPHA:398189
Retinitis Pigmentosa 89	Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly	OMIM:618955
Neonatal Marfan Syndrome	Long toe, Tricuspid regurgitation, Arachnodactyly, Micrognathia, Long fingers, High, narrow palat...	ORPHA:284979
C Syndrome	Micromelia, Micrognathia, Polyhydramnios, Short neck, High palate, Clinodactyly of the 5th finger...	ORPHA:1308
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Thickened nuchal skin fold, Vertebral fusion, Macrodontia, Abnormal dental...	ORPHA:2916
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Short stature, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, ...	OMIM:608154
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Depressed nasal bridge, Polyhydramnios, Micrognathia, Pectus excavatum, Fetal...	OMIM:261515
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Pleural thickening, Fetal p...	OMIM:620014
Myopathy, Myofibrillar, 8	Scapular winging, Micrognathia, Pectus excavatum, Spinal rigidity, Dental malocclusion, Mitral re...	OMIM:617258
Aase-Smith Syndrome I	Ventricular septal defect, Cleft palate, Talipes equinovarus, Open mouth, Slender finger, Dandy-W...	OMIM:147800
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardiomegaly, Microg...	OMIM:614921
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Short stature, Cleft upper lip, Pectus excavatum, Wide n...	OMIM:201180
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Pontocerebellar Hypoplasia, Type 1B	Cerebellar atrophy, Tongue atrophy, Hip dislocation, Growth delay, Tongue fasciculations, Cerebel...	OMIM:614678
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te...	OMIM:257850
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac...	OMIM:615981
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Cerebellar vermis hypoplasia, Ventricular septal defect, Proteinuria, Depressed nasa...	OMIM:616901
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou...	ORPHA:2378
Lymphangiectasia, Pulmonary, Congenital	Recurrent respiratory infections, Depressed nasal bridge, Mild postnatal growth retardation, Edem...	OMIM:265300
Galloway-Mowat Syndrome 3	Cerebellar atrophy, Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Short stature, Hiat...	OMIM:617729
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Short stature, Short neck, Deep ...	OMIM:619750
Schisis Association	Encephalocele, Renal agenesis, Premature birth, Micromelia, Spina bifida, Anencephaly, Tracheoeso...	ORPHA:63862
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ...	OMIM:201170
Mend Syndrome	Thickened nuchal skin fold, Sacral dimple, Overlapping toe, Broad hallux, Prominent nasal bridge,...	ORPHA:401973
Nephronophthisis 15	Cerebellar vermis hypoplasia, Polydactyly, Nephronophthisis	OMIM:614845
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Single transverse palmar crease, Cerebellar gliosis, Abnormal medullar...	ORPHA:79243
Meckel Syndrome	Encephalocele, Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, Apla...	ORPHA:564
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia...	ORPHA:989
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformat...	ORPHA:137667
Macs Syndrome	Irregular dentition, Single transverse palmar crease, Micrognathia, High palate, Short stature, C...	OMIM:613075
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Atrial septal defect, Short stature, Dextrocardia, Homocystinuria, Cyst...	OMIM:277380
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus...	ORPHA:2328
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Pectus c...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Pectus c...	ORPHA:363958
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Polyhydramnios, Short neck, Coxa vara, Sprengel anomaly, Pectus carinat...	ORPHA:800
Maternal Uniparental Disomy Of Chromosome 6	Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Intrauterine growth retardation	ORPHA:96181
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Joubert Syndrome 16	Encephalocele, Renal cyst, Polydactyly, Nephronophthisis, Dandy-Walker malformation	OMIM:614465
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Palmopl...	OMIM:615108
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Recurrent urinary tr...	ORPHA:90349
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Hepatoc...	OMIM:619902
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Pectus carinatum, High palate, Hypoplastic iliac wing, Abno...	ORPHA:93315
Combined Oxidative Phosphorylation Deficiency 57	Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Fetal p...	OMIM:620167
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Absent frontal sinuses...	OMIM:119600
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Tapered finger, Cryptorchidism, Arteria lusoria, 2-3 toe syndactyly, Heart murmu...	OMIM:618653
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Agenesis of cerebellar vermis, Situs inversus totalis, Cerebellar hypoplasia, Atrial septal defec...	OMIM:601322
15q26 overgrowth syndrome	Mandibular prognathia, Micrognathia, Prominent nose, Short neck, Abnormal finger morphology, High...	DECIPHER:81
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Renal cys...	OMIM:113620
Ramos-Arroyo Syndrome	Severe short stature, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Carious te...	ORPHA:1051
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, Cl...	ORPHA:2554
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Ventricular septal defect, Aganglionic megacolon, Malabsorption, Micrognathi...	ORPHA:452
Noonan Syndrome 6	Depressed nasal bridge, Short stature, Edema, Polyhydramnios, Pectus excavatum, Cryptorchidism, S...	OMIM:613224
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Recurrent respiratory infections, Intestinal obstruction, Jejunal atresia, Intestinal malrotation...	OMIM:243150
Pearson Syndrome	Renal insufficiency, Proteinuria, Cardiac conduction abnormality, Postnatal growth retardation, L...	ORPHA:699
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, ...	OMIM:607361
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Sacral dim...	ORPHA:2438
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Increased nuchal tran...	OMIM:620183
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:457279
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, ...	ORPHA:79284
Systemic Sclerosis	Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis, Abnormal small intes...	ORPHA:90291
Mosaic Trisomy 8	Micrognathia, Short neck, Vertebral segmentation defect, High palate, Narrow chest, Vesicouretera...	ORPHA:96061
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Anteverted nares, Hypoplasia of the maxill...	ORPHA:481152
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Short stature, Prominent nasal bridge, Carious teeth, Hypop...	ORPHA:50814
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance...	ORPHA:949
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varum, Rhizomelia, De...	OMIM:156550
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplasia of the pons, Fetal py...	OMIM:619512
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyop...	ORPHA:158687
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Hypospadias, Depressed nasal bridge, Micrognathia, Cryptorchidism, Bulb...	OMIM:603736
Igg4-Related Aortitis	Low back pain, Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology,...	ORPHA:449400
Mowat-Wilson Syndrome	Pectus carinatum, Widely spaced teeth, Atrial septal defect, Hypospadias, Pulmonary artery sling,...	OMIM:235730
Donnai-Barrow Syndrome	Ventricular septal defect, Intestinal malrotation, Proteinuria, Depressed nasal bridge, Broad nas...	OMIM:222448
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Short stature, Submucous cleft hard palate, Vesicoureteral reflux, Renal h...	OMIM:617660
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Short stature, Situs inversus totalis, Cryptorchidism, Cardiomyopathy,...	OMIM:249270
Intellectual Developmental Disorder, Autosomal Recessive 65	Hypospadias, Prominent nasal bridge, Secundum atrial septal defect, Cryptorchidism, Bulbous nose,...	OMIM:618109
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric...	ORPHA:97214
Chondrodysplasia Punctata 2, X-Linked Dominant	Edema, Polyhydramnios, Short neck, Hemivertebrae, Dandy-Walker malformation, Rhizomelia, Abnormal...	OMIM:302960
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High...	OMIM:135500
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Bilateral single transverse pa...	ORPHA:794
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, High palate, Micropenis, ...	OMIM:608156
Facioscapulohumeral Muscular Dystrophy 1	Scapular winging, Tongue atrophy, Retinal telangiectasia, Shoulder girdle muscle weakness, Dysphagia	OMIM:158900
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph...	OMIM:154780
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Prominent nasal bridge, ...	ORPHA:313781
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short stature, Short metatarsal, Atrial septal defect, Short 4th metacarpal, Type E brachydactyly	OMIM:113301
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Myoglobinuria, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of ...	OMIM:609015
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Desmosterolosis	Severe short stature, Depressed nasal bridge, Intestinal malrotation, Micromelia, Micrognathia, M...	ORPHA:35107
Chromosome 15Q11.2 Deletion Syndrome	Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse...	OMIM:615656
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Choanal stenosis, Atrial septal defect, Neonatal death, Multicystic kidney dysplasia, Hypospadias...	OMIM:308205
Feingold Syndrome	Hallux valgus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Short stature, Micrognat...	ORPHA:1305
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Anteverted nares, A...	ORPHA:1512
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ...	OMIM:185500
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Polyhydramnios, Situs inversus totali...	ORPHA:990
Lymphatic Malformation 1	Urethral stricture, Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune h...	OMIM:153100
Trisomy 12P	Thickened nuchal skin fold, Short stature, Micrognathia, Short neck, Wide nasal bridge, Cleft pal...	ORPHA:1699
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Palmopl...	OMIM:615109
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Postnatal growth retardation, Abnormal tongue morphology, Hypoplas...	ORPHA:2457
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Renal hamartoma, D...	OMIM:267000
Gaucher Disease	Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Pro...	ORPHA:355
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Ventricular septal defect, Abnormality of the dentition, Short neck, ...	ORPHA:251038
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Wide nasal bridge, Polycystic kidney dysplasia, Vascular dilatation	OMIM:614859
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Short stature, Camptodactyly of finger, Abnormality of the dentition, Avascular...	ORPHA:77258
Gaucher Disease Type 3	Recurrent respiratory infections, Mitral valve calcification, Abnormal heart valve morphology, Pr...	ORPHA:77261
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, S...	OMIM:182250
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Solar Urticaria	Edema, Periorbital edema, Abnormal tongue morphology, Angioedema, Abnormal lip morphology, Syncope	ORPHA:97230
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle, Ventricular septal defect, Abnormal heart morphology, Coarctation of ao...	ORPHA:261183
Hypoglossia With Situs Inversus	Micrognathia, Situs inversus totalis, High palate, Hypodontia, Narrow mouth, Microglossia	OMIM:612776
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Single transverse palmar crease, Urinary incontinence, Long nose, Downturned ...	OMIM:619522
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Glossoptosis, Rib exostoses, Clinodactyly of the 5th finger, C...	ORPHA:2108
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypospadias, Renal dysplasia, Postaxial polydactyly	OMIM:615985
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Finger syndactyl...	ORPHA:2907
Pontocerebellar Hypoplasia, Type 8	Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Gastroesophageal reflux,...	OMIM:614961
Meier-Gorlin Syndrome 4	Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Lateral clavicle hook, Th...	OMIM:613804
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Anteriorly placed anus, Paten...	OMIM:620305
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Hypoperistalsis, Renal...	OMIM:611376
Autosomal Recessive Polycystic Kidney Disease	Micrognathia, Depressed nasal ridge, Protein-losing enteropathy, Hepatoblastoma, Portal hypertens...	ORPHA:731
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Pseudo-Torch Syndrome 1	Microretrognathia, Renal insufficiency, Anteverted nares, Cleft lip, Patent ductus arteriosus, Hi...	OMIM:251290
Frontorhiny	Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplas...	ORPHA:391474
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Back pain, Kyphosis, Sacroiliac arthritis, Inflammation of the large intest...	OMIM:106300
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Short stature, Cleft upper lip, Hypoplasia ...	OMIM:610829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Abnormal left ventricular function, Macroglossia, Cardiomyopathy, C...	OMIM:613155
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Scoliosis, Ves...	OMIM:617271
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Tricuspid regurgitation, Camptodactyly of finger, Proximal pla...	ORPHA:261211
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Single transverse palmar crease, Myocardial infarction, Hip dysplasia, High palate...	ORPHA:457240
Cowden Syndrome 1	Colonic diverticula, Dysplastic gangliocytoma of the cerebellum, Micrognathia, Hypoplasia of the ...	OMIM:158350
Scarf Syndrome	Short neck, Cryptorchidism, Wide nasal base, Hepatocellular adenoma, Abnormal form of the vertebr...	ORPHA:3134
Semilobar Holoprosencephaly	Median cleft lip, Short stature, Proboscis, Hip dislocation, Depressed nasal ridge, Cleft palate,...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Short stature, Proboscis, Hip dislocation, Depressed nasal ridge, Cleft palate,...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Short stature, Proboscis, Hip dislocation, Depressed nasal ridge, Cleft palate,...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Short stature, Proboscis, Hip dislocation, Depressed nasal ridge, Cleft palate,...	ORPHA:93924
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, Abnormality of the kid...	OMIM:209900
Mogs-Cdg	Wide nose, Thoracic scoliosis, Generalized edema, Edema, Cardiomegaly, Polyhydramnios, Retrognath...	ORPHA:79330
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left...	OMIM:605376
Branchioskeletogenital Syndrome	Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Downturned co...	ORPHA:1299
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis	OMIM:114065
Spondyloocular Syndrome	Long toe, Overlapping toe, Arachnodactyly, Femur fracture, Unilateral cryptorchidism, Duodenal ul...	OMIM:605822
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Velopharyngeal insuffic...	ORPHA:199302
Joubert Syndrome 3	Cerebellar vermis hypoplasia, Anteverted nares, Elongated superior cerebellar peduncle, Stage 5 c...	OMIM:608629
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Alveolar Echinococcosis	Low back pain, Abnormal pelvis bone morphology, Pulmonary cyst, Abnormal pericardium morphology, ...	ORPHA:284
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Secundum atrial septal defect, Postnatal ...	OMIM:620242
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Depressed nasal bridge, Short stature, Abnormality of the dentition...	OMIM:615802
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Congenital Myopathy 11	Decreased fetal movement, Polyhydramnios, Breech presentation, Patent ductus arteriosus, Atrial s...	OMIM:619967
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Dental crowding, Thoracic scoliosis, ...	OMIM:620351
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Abnormal p...	ORPHA:667
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Branchial cyst, Congenital hip dislocation, Branchial fistula...	OMIM:113650
Anencephaly 2	Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate	OMIM:619452
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Transketolase Deficiency	Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P...	ORPHA:488618
Joubert Syndrome 2	Encephalocele, Renal insufficiency, Agenesis of cerebellar vermis, Depressed nasal bridge, Postax...	OMIM:608091
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Thoracic aortic aneurysm, Ileal atresia, Patent ductus arteriosus, Megacystis, Pyelonephr...	OMIM:619351
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, P...	OMIM:192445
Geleophysic Dysplasia 2	Thin upper lip vermilion, Short stature, Tricuspid stenosis, Ovoid vertebral bodies, Short nose, ...	OMIM:614185
Joubert Syndrome 20	4-5 toe syndactyly, Renal cyst, Postaxial polydactyly	OMIM:614970
Pai Syndrome	Encephalocele, Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal ...	ORPHA:1993
Arthrogryposis And Ectodermal Dysplasia	Short stature, Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Orofacial clef...	OMIM:601701
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coron...	OMIM:118651
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Short stature, Short neck, Cryptorchidism, Coarctation of...	OMIM:616559
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Short stature, Abnormality of the dentition, Micrognath...	ORPHA:560
3-Methylglutaconic Aciduria, Type Iv	Single transverse palmar crease, Cryptorchidism, Biventricular hypertrophy, 3-Methylglutaric acid...	OMIM:250951
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis	OMIM:178651
Momo Syndrome	Delayed eruption of teeth, Short stature, Short neck, Thick lower lip vermilion, Dental malocclus...	ORPHA:2563
Luo-Schoch-Yamamoto Syndrome	Wide nose, Tricuspid regurgitation, Anteverted nares, Depressed nasal bridge, Small hand, Oligohy...	OMIM:619460
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Ulnar bowing, Humero...	OMIM:207410
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:309583
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Single transverse palmar crease, Rocker bottom foot, Postaxial polyda...	OMIM:617527
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Atrial septal defect, Depressed nasal bridge, Portal hypertension, Tapered fing...	OMIM:620005
Myasthenic Syndrome, Congenital, 10	Decreased fetal movement, Tongue atrophy	OMIM:254300
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, Depressed nasal bridge, Short statur...	OMIM:619575
Cardiofaciocutaneous Syndrome 4	Short stature, Polyhydramnios, Pectus excavatum, Ventricular septal hypertrophy, Palmoplantar hyp...	OMIM:615280
Diets-Jongmans Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Short stature, Broad nasal tip,...	OMIM:618846
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Dextrocardia, Anteverted nare...	ORPHA:220493
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy...	ORPHA:69735
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Sacral dimple, Dental crowdin...	ORPHA:261323
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia, Oligohydramnios	OMIM:615397
Neurofibromatosis-Noonan Syndrome	Short stature, Cryptorchidism, Abnormal thorax morphology, Pulmonic stenosis, Dysphagia, Hypertro...	ORPHA:638
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Thin upper lip vermilion, Micrognathia, Short neck, Patent ductus arterios...	ORPHA:529962
Osteogenesis Imperfecta, Type X	Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, Broad ribs, Rhizomelia...	OMIM:613848
Lethal Congenital Contracture Syndrome 2	Decreased fetal movement, Ventricular septal defect, Edema, Micrognathia, Polyhydramnios, Dilated...	OMIM:607598
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Prominent nose, Long nose, Sho...	ORPHA:2636
Matthew-Wood Syndrome	Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, ...	ORPHA:2470
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Dilated cardiomyopathy, Pulmonic stenosis, Dehydration	ORPHA:79159
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Tricuspid regurgitation, Anteverted nares, Hypoplasia of the maxilla, Thick ve...	ORPHA:228396
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Depressed nasal brid...	ORPHA:2021
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta...	OMIM:615560
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Short neck, Secundum atrial septal defect, Metaphyseal widening, Subarterial ventricular septal d...	ORPHA:99646
Developmental Delay, Language Impairment, And Ocular Abnormalities	Short stature, Myelomeningocele, Pulmonic stenosis, Facial telangiectasia, Scoliosis, Contracture...	OMIM:620141
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Gingivitis, Gastroin...	ORPHA:286
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol...	ORPHA:233
Metaphyseal Chondrodysplasia, Jansen Type	Hip contracture, Bowing of the long bones, Hyperphosphaturia, Severe short stature, Choanal atres...	OMIM:156400
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal ...	OMIM:617798
Geleophysic Dysplasia 1	Short palm, Short metacarpals with rounded proximal ends, Wrist flexion contracture, Anteverted n...	OMIM:231050
Coffin-Siris Syndrome 12	Micrognathia, High palate, Gastroesophageal reflux, Patent foramen ovale, Hypospadias, Anteverted...	OMIM:619325
Proximal Spinal Muscular Atrophy	Decreased fetal movement, Recurrent infections due to aspiration, Intercostal muscle weakness, El...	ORPHA:70
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Ventricular septal defect, Short stature, Short neck, Di...	ORPHA:85194
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Non-midli...	ORPHA:1791
Delpire-Mcneill Syndrome	Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia	OMIM:619083
Elsahy-Waters Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Anteriorly placed anu...	OMIM:211380
Culler-Jones Syndrome	Short stature, Postaxial polydactyly, Cleft upper lip, Cryptorchidism, Cleft palate, Micropenis	OMIM:615849
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ...	OMIM:183900
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Congenital Diaphragmatic Hernia	Prominent sternum, Pulmonary hypoplasia, Intestinal malrotation	ORPHA:2140
Neu-Laxova Syndrome 2	Finger syndactyly, Decreased fetal movement, Toe syndactyly, Rocker bottom foot, Spina bifida, Mi...	OMIM:616038
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Recurrent shoulder dislocation, Down-sloping shoulders, Dilated cardi...	OMIM:212112
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate, Long philtrum, Open mouth	OMIM:618798
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, A...	ORPHA:217085
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Spina bifida, Tapered finger, Broad nasal tip, Cyst of the ductus choled...	OMIM:619480
Polydactyly, Postaxial, Type A8	Short stature, Postaxial polydactyly, Genu valgum	OMIM:618123
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Wide nasal...	OMIM:157980
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Ventricular septal de...	OMIM:613884
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Hammertoe, Talipes equinovarus, Scoliosis, Tongue fasciculations	OMIM:601596
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Bicuspid aortic valve, Anteverted nares, Depressed nasal bridge, Short stature, Pectus excavatum,...	OMIM:613563
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Short stature, Absent thumb, Absent radius, Preaxia...	OMIM:227646
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Pectus carinatum, Shoulder dislo...	ORPHA:536545
Aymé-Gripp Syndrome	Chiari type I malformation, Oligodontia, Clinodactyly of the 5th finger, Depressed nasal bridge, ...	ORPHA:1272
Myopathy, Myofibrillar, 7	Tongue atrophy, Lumbar hyperlordosis, Shoulder flexion contracture, Urinary incontinence, Spinal ...	OMIM:617114
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Fibromuscular Dysplasia, Multifocal	Tortuous cerebral arteries, Dental crowding, Narrow nose, Hiatus hernia, Micrognathia, Pectus exc...	OMIM:619329
Combined Oxidative Phosphorylation Deficiency 42	Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine growth r...	OMIM:618839
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Lymphedema, Abnormal femur morphology, Atrioven...	ORPHA:324
Neurodevelopmental Disorder With Spasticity And Poor Growth	Recurrent respiratory infections, Tented upper lip vermilion, Anteverted nares, Single transverse...	OMIM:618076
Xylt1-Cdg	Short stature, Coxa valga, Flared metaphysis, Cleft palate, Growth delay, Short long bone, Thick ...	ORPHA:370930
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Seve...	OMIM:231070
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Renal hypoplasia, Abnormal heart morphology, Stillbirth, Abnormal...	OMIM:276950
Bohring-Opitz Syndrome	Cardiomegaly, Micrognathia, Prominent palatine ridges, Dandy-Walker malformation, Anteverted nare...	ORPHA:97297
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Thin ribs, Cerebell...	OMIM:617397
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, A...	ORPHA:217093
Combined Oxidative Phosphorylation Deficiency 40	Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth retardation, Hype...	OMIM:618835
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Postnatal...	OMIM:610198
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:1484
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Short stature, Congestive heart failure, Paroxysmal at...	ORPHA:49827
Joubert Syndrome 35	Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Anteverted nares, Single transverse p...	OMIM:618161
Multiple Acyl-Coa Dehydrogenase Deficiency	Depressed nasal bridge, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Joubert Syndrome 17	Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Esophageal varix, Umbilical hernia, Pulmonic stenosis, Right ventricul...	OMIM:616028
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus, Scoliosis	OMIM:616155
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Renal insuff...	ORPHA:1454
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Ascites, Renal cyst	OMIM:174050
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Femoral bowing, Anteriorly placed anus, Gastroesophageal reflux, Choanal ste...	ORPHA:95699
Nephronophthisis 14	Situs inversus totalis, Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Bicuspid aortic valve, Single transverse palmar crease,...	OMIM:150230
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Pelvic kidney, Cerebellar hypoplasia, Subvalvular aort...	OMIM:613001
Ring Chromosome 12 Syndrome	Syndactyly, Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, Abnormal 5th fin...	ORPHA:1439
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Dysphagia	ORPHA:216873
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Depressed nasal bridge, Hyperlordosis, Congestive heart failure, Glutaric acidu...	ORPHA:26791
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Exaggerated cupid's bow, Bicuspid aortic valve, Tapered finger, Micrognathia, Bulbous ...	OMIM:614501
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca...	OMIM:147891
Aapoaiv Amyloidosis	Back pain, Abnormal lung morphology, Left bundle branch block, Sinus bradycardia, Cardiac amyloid...	ORPHA:439232
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th f...	ORPHA:1449
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, Short neck, High, narrow palate, Deep philtrum, Downturned...	OMIM:619950
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,...	ORPHA:306542
Hyperparathyroidism, Transient Neonatal	Polyhydramnios, Femoral bowing, Gastroesophageal reflux, Narrow chest, Anteverted nares, Depresse...	OMIM:618188
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Single naris, Renal cyst, Bell-shaped thorax, Short ribs,...	OMIM:615636
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Micrognathia, Cryptorchidism, Patent ductus arteriosus, ...	ORPHA:96191
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93260
Scarf Syndrome	Barrel-shaped chest, Thickened nuchal skin fold, Prominent nasal bridge, Short neck, Cryptorchidi...	OMIM:312830
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli...	OMIM:616229
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Coxa vara, Mitral va...	ORPHA:2848
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Wide nose, Angina pectoris, Anteverted nares, Abnormal large intestine morp...	ORPHA:109
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn...	ORPHA:93322
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Cerebellar vermis hypoplasia, Dicarboxylic aciduria, Cardiomegaly, Heart blo...	ORPHA:228308
Spastic Paraplegia 16, X-Linked	Urinary incontinence, Hypoplasia of the maxilla, Urinary urgency, Urinary bladder sphincter dysfu...	OMIM:300266
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Short stature, Growth delay, Atrial septal defect, Intrauterine growth ret...	OMIM:617744
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Narrow chest, Scolio...	OMIM:613819
Meckel Syndrome 12	Agenesis of cerebellar vermis, Anteverted nares, Rocker bottom foot, Ureteral hypoplasia, Microgn...	OMIM:616258
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Decreased testicular size, Anal ...	ORPHA:93950
Meckel Syndrome, Type 9	Sonographic non-visualized fetal bladder, Occipital encephalocele, Multicystic kidney dysplasia, ...	OMIM:614209
Donnai-Barrow Syndrome	Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Proteinuria, Umbilical...	ORPHA:2143
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Anteverted nares, Choanal atresia, Abnormal renal morpho...	ORPHA:83
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopat...	ORPHA:445038
Joubert Syndrome 27	Dilatation of the renal pelvis, Thick lower lip vermilion, Polydactyly	OMIM:617120
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Cleft upper lip, Aminoaciduria, Arrhythmia, Tetraamelia	OMIM:273400
Legius Syndrome	Short stature, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Nephrolithiasis, Des...	ORPHA:137605
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Anteverted nares, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Unilatera...	ORPHA:457284
Pycnodysostosis	Short stature, Aplastic clavicle, Persistence of primary teeth, Delayed eruption of primary teeth...	OMIM:265800
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Depressed nasal bridge, Short stature, Micrognathia, Cryptorchidism, Paten...	ORPHA:85276
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Edema, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea...	OMIM:602579
Acrofacial Dysostosis, Cincinnati Type	Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus...	OMIM:616462
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Short stature, Pulmonic stenosis, Brachydactyly	OMIM:614819
Diphallia	Ureteral duplication, Epispadias, Hemivertebrae, Atrial septal defect, Duplicated colon, Bladder ...	ORPHA:227
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Intestinal malrotation, Ventricular septal defect, Hypoplastic philtrum, Hiatus ...	OMIM:616682
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Narrow palate, Chiari mal...	ORPHA:207
Hartsfield Syndrome	Syndactyly, Wide nose, Median cleft lip, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft pala...	OMIM:615465
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, ...	OMIM:119800
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c...	OMIM:616788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cleft upper lip, Spinal rigidity, Partial absence of cerebellar vermis, Cleft pala...	OMIM:613150
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Pectus ex...	OMIM:617168
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Depressed na...	ORPHA:647
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Larsen-Like Syndrome, Lethal Type	Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia	OMIM:245650
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly	OMIM:618838
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Abnormality of the urinary system, Agenesis of cerebellar vermis, Postax...	OMIM:213010
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Micrognathia, Pectus carinatum, Oligodontia, High palate, Clinodactyly of the 5th finger, Intraut...	OMIM:210730
Paternal Uniparental Disomy Of Chromosome 5	Polyhydramnios, Kyphoscoliosis, Secundum atrial septal defect, Rhizomelic arm shortening, Abnorma...	ORPHA:96190
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs...	OMIM:616037
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropath...	OMIM:617056
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Increased overbite, Micropenis	OMIM:618504
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Oligohydr...	OMIM:619573
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate...	OMIM:268305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Cleft upper lip, Micrognathia, Cryptorchidism, Meningoencephalocele, Cle...	OMIM:236670
Birt-Hogg-Dube Syndrome 1	Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Renal cell carcin...	OMIM:135150
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Prominent na...	ORPHA:110
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Smooth philtrum, Widely-spaced...	OMIM:618737
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Abnormality of the dentition, Cleft palate, Mitral valve prolapse,...	ORPHA:90354
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Ferguson-Bonni Neurodevelopmental Syndrome	Coronary-pulmonary artery fistula, Micrognathia, Pectus excavatum, High palate, Patent foramen ovale	OMIM:619699
Sarcosinemia	Hypersarcosinuria, Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:3129
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Cerebrooculonasal Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Postaxial ...	OMIM:605627
Enlarged Parietal Foramina	Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Abnormal cer...	ORPHA:60015
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thick upper lip vermilion, Ventricular septal defect, Anteverted nares, Sh...	OMIM:619727
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93259
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn...	ORPHA:563
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Anteverted nares, Pneumonia, Limited elbow movement, Limited wrist movement...	OMIM:617809
Proteus Syndrome	Pulmonary embolism, Lymphedema, Abnormal finger morphology, Abnormal lung lobation, Renal cyst, A...	ORPHA:744
Magel2-Related Prader-Willi-Like Syndrome	Narrow nasal bridge, Thin upper lip vermilion, Recurrent respiratory infections, Decreased fetal ...	ORPHA:398069
Gorlin-Chaudhry-Moss Syndrome	Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus,...	ORPHA:2095
Schneckenbecken Dysplasia	Micromelia, Polyhydramnios, Lateral clavicle hook, Lymphedema, Short neck, Abnormal form of the v...	ORPHA:3144
Hemochromatosis, Neonatal	Intrauterine growth retardation, Nonimmune hydrops fetalis, Oligohydramnios	OMIM:231100
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft lip, Meningocele, Hip dislocation, Depressed nasal ridge, Absent nasal septal c...	ORPHA:2003
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Ivic Syndrome	Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th...	ORPHA:2307
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Clubbing of fingers, ...	OMIM:175500
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphoscoliosis, Hypoplastic ilia, ...	OMIM:615349
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Hypo...	OMIM:619268
Meckel Syndrome 13	Occipital encephalocele, Cerebellar hypoplasia, Polycystic kidney dysplasia, Micrognathia	OMIM:617562
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Short ...	OMIM:309801
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly, Cerebellar vermis atrophy	ORPHA:163681
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Hi...	ORPHA:957
Gracile Bone Dysplasia	Short stature, Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Ascites, Ankyloglossi...	OMIM:602361
Auriculocondylar Syndrome 3	Glossoptosis, Retrognathia, Bifid uvula, Micrognathia	OMIM:615706
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Renal hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis...	OMIM:250420
Myopathy With Extrapyramidal Signs	Tented upper lip vermilion, Anteverted nares, Ventricular septal defect, Short neck, Growth delay...	OMIM:615673
Lipoid Proteinosis	Recurrent respiratory infections, Nasal polyposis, Abnormal oral mucosa morphology, Abnormality o...	ORPHA:530
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Kyphoscoliosis, Bilateral cryptorchidism, Congestive heart failure, Bulb...	OMIM:617403
Microphthalmia, Syndromic 3	Vertebral fusion, Ventricular septal defect, Hypospadias, Short stature, Missing ribs, Postnatal ...	OMIM:206900
Cystic Echinococcosis	Multiple pulmonary cysts, Pulmonary cyst, Abnormality of the testis size, Renal cyst, Abnormal he...	ORPHA:400
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Dyskeratosis Congenita	Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Intrauterine growth retardation, Sho...	ORPHA:1775
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Anteverted nares, Prominent n...	ORPHA:475
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Depressed nasal br...	OMIM:618019
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Median cleft lip, High palate, Bifid uvula	OMIM:155145
Arima Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Proteinuri...	OMIM:243910
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ...	OMIM:601612
Neurofibromatosis-Noonan Syndrome	Pectus excavatum of inferior sternum, Depressed nasal bridge, Short stature, Short neck, Secundum...	OMIM:601321
Autoimmune Lymphoproliferative Syndrome	Renal insufficiency, Gastritis, Glomerulonephritis, Vasculitis, Hydrops fetalis, Colitis, Recurre...	ORPHA:3261
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlar...	ORPHA:75249
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Atrial septal defect, Ureteropelvic junction obstruction, Exaggerated cupi...	OMIM:300896
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrow...	ORPHA:1839
Adnp Syndrome	Single transverse palmar crease, Urinary incontinence, Oral-pharyngeal dysphagia, Abnormal finger...	ORPHA:404448
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Edema, Absence of re...	OMIM:120330
Atypical Werner Syndrome	Abnormal cerebral vascular morphology, Micrognathia, Finger clinodactyly, Premature arteriosclero...	ORPHA:79474
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue atrophy, Hyperlordosis, Intrinsic hand muscle atrophy, Tongue fasciculat...	OMIM:620285
Popliteal Pterygium Syndrome	Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finge...	OMIM:119500
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Patent ductus ar...	ORPHA:3241
Microphthalmia, Isolated 4	Absent testis, Postaxial polydactyly	OMIM:613094
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo...	OMIM:615986
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect, Scoliosis	ORPHA:357225
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Short stature, Cleft upper l...	OMIM:147250
Barth Syndrome	Mandibular prognathia, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, ...	OMIM:302060
Larsen Syndrome	Finger syndactyly, Depressed nasal bridge, Short stature, Cryptorchidism, Accessory carpal bones,...	ORPHA:503
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Cryptorchidism, Patent ductus arteriosus, Cerebellar hypoplasia, Atrial septa...	OMIM:620327
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Large placenta, Abnormal...	ORPHA:254534
Agel Amyloidosis	Tongue atrophy, Proteinuria, Edema, Respiratory tract infection, Xerostomia, Stage 5 chronic kidn...	ORPHA:85448
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Dental enamel pits, Gingival fibromatosis, Cardiac rhabdomyoma, R...	OMIM:191100
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Polyhydramnios	ORPHA:3346
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Short metatarsal, High...	ORPHA:1772
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Secundum atrial septal defect, Short neck, Downturned corners of mouth, Narrow ches...	OMIM:264090
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Wide nose, Lumbar hyperlordosis, Sandal gap, Broad hallux, Dental crowd...	OMIM:616078
Dpagt1-Cdg	Prolonged QT interval, Decreased fetal movement, Arachnodactyly, Fetal akinesia sequence, Abnorma...	ORPHA:86309
Biemond Syndrome Ii	Preaxial hand polydactyly, Short stature	OMIM:210350
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol...	OMIM:616629
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Hip dysplasia, ...	OMIM:613404
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Ectopic kidney, Pectus carinatum, High palate, Short phil...	ORPHA:3063
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ...	ORPHA:2241
Trichothiodystrophy	Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Carious teeth, Cryptorchid...	ORPHA:33364
Axenfeld-Rieger Syndrome	Anal stenosis, Hypospadias, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge,...	ORPHA:782
Lathosterolosis	Toe syndactyly, Foam cells with lamellar inclusion bodies, Anteverted nares, Micrognathia, Lumbos...	OMIM:607330
Classical Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Rectal prolapse, Premature rupture of membranes, Shou...	ORPHA:287
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom...	OMIM:617610
Curry-Jones Syndrome	Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplication of thumb phalanx...	OMIM:601707
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Flat...	OMIM:610828
Anemia, Congenital Dyserythropoietic, Type Iv	Hypospadias, Short stature, Hydrops fetalis, Micropenis, Hypertrophic cardiomyopathy	OMIM:613673
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef...	ORPHA:107
Renal Hypoplasia, Bilateral	Proteinuria, Short stature, Edema, Premature birth, Cryptorchidism, Chronic kidney disease, Renal...	ORPHA:97362
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Raynaud phenomen...	OMIM:611773
Acromegaly	Mandibular prognathia, Wide penis, Widely spaced teeth, Macrodactyly, Tapered finger, Long penis,...	ORPHA:963
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormality of t...	OMIM:607823
Craniolenticulosutural Dysplasia	High palate, Gastroesophageal reflux, Narrow chest, Bifid uvula, Anteverted nares, Short stature,...	OMIM:607812
Immunodeficiency 49	Natal tooth, Micrognathia, Pulmonary artery stenosis, Short philtrum, Umbilical hernia	OMIM:617237
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong...	OMIM:614473
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the pons, Hypoplasia of the maxilla, Retinal t...	OMIM:620157
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis, Pulmonic stenosis	OMIM:264140
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g...	ORPHA:1461
Congenital Disorder Of Glycosylation, Type Iiw	Wide nose, Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hemat...	OMIM:619525
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tented upper lip vermilion, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen...	OMIM:619424
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebellar atrophy, Hypospadias, Short stature, Submucous cleft hard palate, Aortic root aneurysm...	OMIM:618891
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Short stature, Cryptorchidism, Deep philtrum, A...	ORPHA:438213
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Noncompaction cardiomyopathy, Tricusp...	ORPHA:508542
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Depressed nasal bridge, Postaxial polydactyly, Cryptorchidism, Breech presentation, Proximal rena...	OMIM:615824
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dilated cardiomyopathy, D...	ORPHA:89842
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary teeth, Hypopla...	OMIM:620099
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Bulbous nose, Short philtrum	ORPHA:93945
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Thin upper lip vermilion, Hypospadias, Anteverted nares, Narrow nasal tip, Tapered finger, Abnorm...	ORPHA:477993
Renal Tubular Dysgenesis	Anuria, Abnormality of the urinary system, Pulmonary hypoplasia, Hypotension, Renotubular dysgene...	OMIM:267430
Barber-Say Syndrome	Delayed eruption of teeth, Mandibular prognathia, Wide nose, Anteverted nares, Micrognathia, Hypo...	OMIM:209885
Monosomy 9P	Proximal placement of thumb, Micrognathia, Short neck, High palate, Bilateral single transverse p...	ORPHA:261112
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism...	ORPHA:2658
Short Stature, Developmental Delay, And Congenital Heart Defects	Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d...	OMIM:617044
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Renal hypoplasia, Nephrocalcinosi...	OMIM:617913
Familial Visceral Myopathy	Hydroureter, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Micrognathia, Anteve...	ORPHA:2604
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cerebellar vermis hypoplasia, Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia...	ORPHA:495875
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Polyhydramnios, Short metatarsal, Tibial bowing, Tarsometatarsal synost...	OMIM:600383
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Cerebellar vermis hypoplasia, Short neck, High palate, Bifid uvula, Wide n...	OMIM:620330
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphol...	ORPHA:2673
Hypertelorism-Microtia-Facial Clefting Syndrome	Severe short stature, Thenar muscle atrophy, Bifid nasal tip, Horseshoe kidney, Bifid nose, Cross...	ORPHA:2213
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Cleft pa...	ORPHA:1934
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Hydrops fetalis	ORPHA:766
Sotos Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, No permanent dentition, Pedal edema, Gastroes...	ORPHA:821
Choreoacanthocytosis	Dilated cardiomyopathy, Temporomandibular joint crepitus, Dysphagia, Protruding tongue	ORPHA:2388
Mucoepithelial Dysplasia, Hereditary	Fibrocystic lung disease, Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Cor pulmonale...	OMIM:158310
Peroxisome Biogenesis Disorder 11A (Zellweger)	Depressed nasal bridge, Anteverted nares, Multiple renal cysts, Renal cyst	OMIM:614883
Laurence-Moon Syndrome	Micropenis, Short stature, Polydactyly, Abnormality of the hand	OMIM:245800
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect, Urinary incontinence	OMIM:620094
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Joubert Syndrome 39	Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Hypoplastic left he...	OMIM:619562
Cowden Syndrome	Abnormal penis morphology, Short stature, Abnormality of the kidney, Pectus excavatum, Abnormal c...	ORPHA:201
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Tars...	ORPHA:85199
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr...	OMIM:616307
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thin upper lip vermilion, Depressed nasal bridge, Choanal atresia, Portal hypertension, Hiatus he...	OMIM:610199
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, M...	OMIM:614083
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Breech presentation, Retinal hemorrhage, Growth delay, Hy...	OMIM:614653
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Cleft palate, Micrognathia	OMIM:243440
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Polyhydramnios, Cardiomegaly, Subchorionic septal cy...	ORPHA:116
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Dysphagia	OMIM:613435
Somatomammotropinoma	Mandibular prognathia, Broad jaw, Wide nose, Palpebral edema, Macrodactyly, Dysuria, Tapered fing...	ORPHA:314769
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
17Q11 Microdeletion Syndrome	Bowing of the legs, Abnormal internal carotid artery morphology, Abnormal lung morphology, Cerebr...	ORPHA:97685
X-Linked Agammaglobulinemia	Sinusitis, Short stature, Malabsorption, Abnormal lung morphology, Recurrent pneumonia, Glossoptosis	ORPHA:47
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici...	ORPHA:99772
Brain-Lung-Thyroid Syndrome	Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Short stature, Recurren...	ORPHA:209905
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Ventricular septal defect, Depressed nasal bridge, Short stature, H...	OMIM:618325
Gabriele-De Vries Syndrome	Hallux valgus, Abnormality of upper lip vermillion, Sydney crease, Sandal gap, Abnormality of the...	ORPHA:506358
Stüve-Wiedemann Syndrome	Bowing of the long bones, Sacral dimple, Short stature, Camptodactyly of finger, Micromelia, Abno...	ORPHA:3206
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Johanson-Blizzard Syndrome	Single transverse palmar crease, Downturned corners of mouth, Anteriorly placed anus, Atrial sept...	OMIM:243800
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial...	ORPHA:1553
Bardet-Biedl Syndrome 6	Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly	OMIM:605231
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Exaggerated cup...	OMIM:619306
Alpha-Thalassemia	Hydrops fetalis	ORPHA:846
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St...	OMIM:613095
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Ventricular septal defect, Renal agenesis, Short stature, Absent th...	OMIM:227645
Joubert Syndrome 23	Polydactyly, Cerebellar dysplasia	OMIM:616490
Faciocardiorenal Syndrome	Underdeveloped nasal alae, Narrow mouth, Wide nasal bridge, Cleft palate, Horseshoe kidney, Hypod...	ORPHA:1973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Spinal rigidity, Dilated cardiomyopathy, Myocardial fibrosis, Cerebellar hypoplasi...	OMIM:253800
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr...	OMIM:619608
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, U...	ORPHA:101085
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Recurrent respiratory infections, Tongue atrophy, Abnormal cerebellum morpho...	OMIM:211530
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Intellectual Developmental Disorder, Autosomal Dominant 45	Heart murmur, Arachnodactyly, Pulmonic stenosis, Scoliosis	OMIM:617600
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Hypospadias, Depressed nasa...	OMIM:619479
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar...	OMIM:175050
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Concave nasal ridge...	OMIM:602482
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Single transverse palmar crease, Micrognathia, Pectus carinatum, Narrow chest, Bifid uvula, Dislo...	OMIM:130070
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Ventricular septal defect, Pneumonia, Pericardial effusion, D...	ORPHA:26793
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Gastrointestinal inflammation, Gastroesophageal reflux, Urinary bladder sphin...	ORPHA:79408
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Malabsorption, Hypercalciuria, Hydrops fetalis, Dehydration, 3-Methylglutaric ac...	OMIM:557000
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Left ventricular systolic dysfunction, Ketonuria, Dilated cardiomyopathy...	OMIM:619167
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Abnormality of the vertebr...	OMIM:109120
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Amniotic constriction ring, Lip pit	ORPHA:1072
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Lumbar hyperlor...	OMIM:184253
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Transient ischemic attack, Depressed nasal bridge, Lymphedema, ...	OMIM:600268
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Premature birth, Sudden cardiac death, Cong...	ORPHA:1880
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat...	ORPHA:2929
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno...	ORPHA:2973
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo...	ORPHA:369929
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Premature birth, Polyuria, Edem...	OMIM:602522
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Encephalocele, Hypospadias, S...	ORPHA:2211
Chand Syndrome	Short fifth metatarsal, Hydroureter, Depressed nasal bridge, Atelectasis, Cleft palate, Agenesis ...	ORPHA:1401
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease, Ren...	ORPHA:157
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Ventricular septal defect, Hypoplasia of teeth, Growth delay, Short nose, Retro...	OMIM:234050
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Mild postnatal growth retardation, Hydrops fetalis	OMIM:224120
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Arterial tortuosity, Micrognathia, Pectu...	ORPHA:60030
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Edema, Right ventricul...	ORPHA:100078
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Vesicoureteral reflux, Abnormal salivary ...	ORPHA:2363
Pyknoachondrogenesis	Craniofacial hyperostosis, Palpebral edema, Micromelia, Short iliac bones, Horizontal ribs, Short...	ORPHA:3003
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Bilateral ...	ORPHA:522077
Gaucher Disease, Type I	Epistaxis, Vertebral compression fracture, Abnormal pulmonary interstitial morphology, Hypertensi...	OMIM:230800
Formiminoglutamic Aciduria	Atrial septal defect, Abnormal concentration of acylcarnitine in the urine	ORPHA:51208
Bdv Syndrome	Micrognathia, Cryptorchidism, Delayed puberty, Atrial septal defect, Micropenis	OMIM:619326
Developmental And Epileptic Encephalopathy 90	Atrial septal defect, Fetal pyelectasis	OMIM:301058
Hartnup Disease	Abnormal urinary color, Short stature, Malabsorption, Gingivitis, Glossitis, Neutral hyperaminoac...	ORPHA:2116
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery, Aganglionic megacolon, Abnormality of the kidney	ORPHA:895
Bardet-Biedl Syndrome 20	Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe...	OMIM:619471
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Gingival fibro...	OMIM:613254
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S...	OMIM:126320
Cogan Syndrome	Aortic regurgitation, Vasculitis, Large vessel vasculitis	ORPHA:1467
Unilateral Ocular Duplication	Encephalocele, Polyhydramnios, Median cleft lip, Cleft palate	ORPHA:3374
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Sacral dimple, Short stature, Tapered ...	OMIM:619539
Lelis Syndrome	Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia	ORPHA:140936
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Anteverted nares, Polyhydramnios, Micrognathia, Broad nasal tip, Pectus...	OMIM:618548
Von Hippel-Lindau Disease	Back pain, Elevated urinary catecholamine level, Myocardial infarction, Pancreatic cysts, Myocard...	ORPHA:892
Pmm2-Cdg	Mandibular prognathia, Cerebellar vermis hypoplasia, Prominent nose, Lymphedema, Intracranial hem...	ORPHA:79318
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary...	ORPHA:555874
Retinitis Pigmentosa 51	Polydactyly, Abnormality of the kidney	OMIM:613464
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:614300
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Unilateral renal agenesis...	OMIM:620024
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Elevated urinary catecholamine level, Kyphoscoliosis, Elevated urinary nor...	ORPHA:653
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Choanal atresia, Unilateral renal a...	ORPHA:141099
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Gaucher Disease, Type Ii	Trismus, Gastroesophageal reflux, Dysphagia, Bronchiolitis, Recurrent aspiration pneumonia, Doubl...	OMIM:230900
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Neuropathic spinal arthropathy, Tongue atrophy, Hammertoe, Hip dysplasia, Ton...	ORPHA:99949
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Recurrent respiratory infections, Renal neop...	ORPHA:538
Microphthalmia With Linear Skin Defects Syndrome	Micrognathia, Epispadias, Abnormality of the anus, Abnormal penis morphology, Tricuspid regurgita...	ORPHA:2556
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Postnatal growth retardation, Renal cyst, Steatorrhea, Fat malabsorption	ORPHA:79303
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr...	ORPHA:363618
Joubert Syndrome 40	Depressed nasal bridge, Postaxial polydactyly	OMIM:619582
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor...	ORPHA:2237
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Gastroesophageal reflux, Situs inversus totalis	OMIM:619881
Frontofacionasal Dysplasia	Cleft upper lip, Underdeveloped nasal alae, Orofacial cleft, Midline defect of the nose, Bifid no...	OMIM:229400
Bazex-Dupre-Christol Syndrome	Low hanging columella, Underdeveloped nasal alae, Narrow nasal ridge, Furrowed tongue	OMIM:301845
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Depressed nasal ridge, Cutaneous syndactyly of toes, High palate, Sh...	OMIM:618332
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect, Growth delay, Short stature	OMIM:620211
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu...	OMIM:618901
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Severe short stature, Nonimmune hydro...	OMIM:256540
Fanconi Anemia, Complementation Group N	Ventricular septal defect, Short neck, Postnatal growth retardation, Short thumb, Nephroblastoma	OMIM:610832
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra...	OMIM:618775
Atelosteogenesis Type Iii	Polyhydramnios, Short tubular bones of the hand, Micrognathia, High palate, Short tibia, Vertebra...	ORPHA:56305
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Dilation of Virchow-Robin spaces, Tricuspid regurgitation, Micrognathia, Hypoph...	ORPHA:73223
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea...	ORPHA:805
Melkersson-Rosenthal Syndrome	Edema, Periorbital edema, Cheilitis, Oligosacchariduria, Furrowed tongue, Macroglossia	ORPHA:2483
Campomelia, Cumming Type	Bowing of the long bones, Short stature, Lymphedema, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Medial calcification of large arteries, Short stature, Congestive heart failure,...	ORPHA:391487
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Leigh Syndrome	Cerebellar atrophy, Abnormal dentate nucleus morphology, Ventricular septal defect, Congestive he...	ORPHA:506
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Tricuspid regurgitation, Atelectasis, Bronchiectasis, Recurrent lower r...	OMIM:620233
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge	OMIM:167730
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Decreased fetal movement, Tricuspid regurgitation, Cleft soft palate, Polyhydramnios, Kyphoscolio...	OMIM:614557
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Niemann-Pick Disease Type C	Bone-marrow foam cells, Fetal ascites, Abnormal lung morphology, Hydrops fetalis, Aspiration pneu...	ORPHA:646
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Microsporidiosis	Sinusitis, Pneumonia, Bronchitis, Myocarditis, Urethritis, Endocarditis, Dehydration, Rhinitis, A...	ORPHA:2552
Aspartylglucosaminuria	Mandibular prognathia, Recurrent respiratory infections, Beaking of vertebral bodies, Aspartylglu...	ORPHA:93
Spinocerebellar Ataxia 36	Cerebellar atrophy, Tongue atrophy, Tongue fasciculations, Dysphagia	OMIM:614153
Crouzon Syndrome	Mandibular prognathia, Abnormality of the cervical spine, Dental crowding, Hypoplasia of the maxi...	OMIM:123500
Hepatoerythropoietic Porphyria	Erythrodontia, Nonimmune hydrops fetalis, Edema, Red urine, Red-brown urine, Abnormality of the a...	ORPHA:95159
Rhyns Syndrome	Renal insufficiency, Radial bowing, Short stature, Chronic kidney disease, Short long bone, Short...	OMIM:602152
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A...	ORPHA:1677
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations, Loss of Purkinje cells in the cerebellar vermis, Dysphagia	ORPHA:276198
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia...	ORPHA:238468
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Craniosynostosis And Dental Anomalies	Hallux valgus, Delayed eruption of teeth, Mandibular prognathia, Wide nose, Broad hallux, Dental ...	OMIM:614188
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Narrow mouth,...	ORPHA:54028
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre...	OMIM:615474
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Multiple pulmonary cysts, Ventricular septal defect, Depressed nasal bridge, P...	OMIM:619418
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Abnormal dental morphology, Short stature, Abnormality of the de...	ORPHA:158668
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartoma, Shortened QT interval, N...	ORPHA:99880
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Depressed nasal bridge, Renal cyst	OMIM:614862
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, Aortic valve atresia, Anterior...	OMIM:220111
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Single transverse palmar crease, Short...	OMIM:614947
Parathyroid Carcinoma	Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartoma, Shortened QT interval, N...	ORPHA:143
Holoprosencephaly 4	Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Med...	OMIM:142946
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo...	OMIM:610978
Cholestasis, Progressive Familial Intrahepatic, 5	Pleural effusion, Ascites, Nonimmune hydrops fetalis	OMIM:617049
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Micrognathia, Abnormal left ventricular function, Aminoaciduria,...	OMIM:619991
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl...	OMIM:618748
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect, Short stature, Arterial rupture, Scoliosis	OMIM:619115
Congenital Erythropoietic Porphyria	Erythrodontia, Nonimmune hydrops fetalis, Edema, Increased stool urobilinogen concentration, Red-...	ORPHA:79277
Septooptic Dysplasia	Short stature, Polydactyly, Short finger	OMIM:182230
Neurodevelopmental Disorder With Language Delay And Seizures	Growth delay, Cryptorchidism, Ventricular septal defect	OMIM:619908
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal b...	ORPHA:920
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Proximal muscle weakness in upper limbs, Tongue atrophy, Urinary incontinence...	ORPHA:466768
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nas...	ORPHA:2399
Epidermal Nevus Syndrome	Thoracolumbar scoliosis, Weakness of long finger extensor muscles, Spinal canal stenosis, Polycys...	ORPHA:35125
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Hand muscle weakness, Ar...	ORPHA:99956
Generalized Pustular Psoriasis	Renal insufficiency, Congestive heart failure, Cheilitis, Pedal edema, Geographic tongue	ORPHA:247353
Primrose Syndrome	Bilateral cryptorchidism, Hypoplasia of the maxilla, Downturned corners of mouth, Irregular verte...	OMIM:259050
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Carney Complex	Neoplasm of the stomach, Leydig cell neoplasia, Ovarian serous cystadenoma, Neoplasm of the rectu...	ORPHA:1359
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulceration, Gastro...	ORPHA:436252
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Esophag...	ORPHA:84081
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Scoliosis, Atrial septal defect, Re...	ORPHA:457351
Beckwith-Wiedemann Syndrome	Nephroblastoma, Cardiomegaly, Cryptorchidism, Vesicoureteral reflux, Renal cortical cysts, Nephro...	OMIM:130650
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Acrodermatitis Enteropathica	Short stature, Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
Diamond-Blackfan Anemia 12	Ventricular septal defect, Triphalangeal thumb	OMIM:615550
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Bicuspid aortic valve, Depressed nasal bridge, Short stature, Secundum atrial septal de...	OMIM:613355
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect, Macroglossia, Growth delay, Short stature	ORPHA:93947
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,...	OMIM:615989
Hereditary Folate Malabsorption	Recurrent respiratory infections, Recurrent urinary tract infections, Cheilitis, Gastroesophageal...	ORPHA:90045
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal jugular vein morphology, Edema of the dorsum of feet, Increased...	ORPHA:275766
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Plague	Chapped lip, Tachycardia, Edema, Hematemesis, Abnormality of the elbow, Enterocolitis, Endocardit...	ORPHA:707
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Ventricular septal defect, Short stature, Kyphoscoliosis, Kyphosis, Metaphys...	OMIM:259770
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prol...	ORPHA:2396
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Nonimmune hydrops fetalis	OMIM:266200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa...	ORPHA:93111
Choanal Atresia	Nasal congestion, Recurrent respiratory infections, Chronic sinusitis, Polydactyly	ORPHA:137914
Aspartylglucosaminuria	Recurrent respiratory infections, Aspartylglucosaminuria, Anteverted nares, Depressed nasal bridg...	OMIM:208400
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Wide nasal bridge, Renal cyst, Epiphyseal stippling, Convex nasal ridge	OMIM:601539
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Hypertension, Polycystic kidn...	OMIM:618061
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs...	OMIM:157170
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Severe short stature, Anteverted nares, Edema, Lymphedema, Wide nasal bridge, Thick ve...	ORPHA:2526
Diamond-Blackfan Anemia 5	Short stature, Ventricular septal defect, Hypospadias	OMIM:612528
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst	OMIM:617100
Distal Renal Tubular Acidosis	Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne...	ORPHA:18
Odontoonychodermal Dysplasia	Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of permanent teeth, Conical i...	OMIM:257980
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Depressed nasal ridge, Growth delay, Decreased cervical spine mobility, Polyd...	ORPHA:95494
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ...	ORPHA:2502
Mpdu1-Cdg	Renal cortical cysts, Thin vermilion border, Prominent frontal sinuses	ORPHA:79323
Imerslund-Gräsbeck Syndrome	Tachycardia, Glossitis, Angular cheilitis, Proteinuria	ORPHA:35858
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Hereditary Elliptocytosis	Postnatal growth retardation, Hydrops fetalis	ORPHA:288
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Mody	Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Intrauter...	ORPHA:552
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Conical too...	OMIM:305100
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Occipital encephalocele, Multicystic kidney dysplasia, Agenesis of cerebellar v...	OMIM:615287
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm...	OMIM:610188
Axial Osteomalacia	Renal cyst	OMIM:109130
Hughes-Stovin Syndrome	Pulmonary embolism, Vasculitis, Arterial stenosis, Pedal edema, Pulmonary artery aneurysm, Pulmon...	ORPHA:228116
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Psoriasis 14, Pustular	Geographic tongue, Furrowed tongue	OMIM:614204
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Intestinal malrotation, Portal hypertension, Megacystis, Hydronephrosis, Microcolon,...	OMIM:619431
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Polyhydramnios, Megacystis, Hydronephrosis,...	OMIM:155310
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Microdontia, Elbow flexion contracture, Oral leukoplakia, Furrowed tongue	OMIM:148210
Diamond-Blackfan Anemia 4	Atrial septal defect, Growth delay, Short stature	OMIM:612527
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Oral mucosal blisters, Growth delay, Palmoplantar keratoderma, Smooth tongue, Enamel hypoplasia	ORPHA:79396
Duodenal Atresia	Abnormality of the pulmonary artery, Polyhydramnios, Duodenal atresia	ORPHA:1203
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria	OMIM:258900
Caroli Disease	Cholangiocarcinoma, Portal hypertension, Esophageal varix, Polycystic kidney dysplasia, Ascites	ORPHA:53035
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia, Scoliosis	OMIM:619352
Von Hippel-Lindau Syndrome	Pancreatic cysts, Pulmonary capillary hemangiomatosis, Hypertension, Renal cell carcinoma, Epidid...	OMIM:193300
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Renal cortical cysts	OMIM:609180
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Polyhydramnios, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydronephr...	OMIM:619362
Holoprosencephaly 1	Median cleft lip and palate, Short stature, Proboscis, Cerebellar hypoplasia, Aplasia of the nose...	OMIM:236100
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Immunodeficiency 96	Conjunctival telangiectasia, Recurrent lower respiratory tract infections, Multicystic kidney dys...	OMIM:619774
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Short stature, Renal hypoplasia/aplasia, Crypt...	ORPHA:261265
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Wrist flexion contracture, ...	OMIM:618733
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla, D...	ORPHA:3044
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridg...	OMIM:180500
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Bulbous nose, Right atrial enlargement	OMIM:615219
Watson Syndrome	Short stature, Pulmonic stenosis, Pectus carinatum	OMIM:193520
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Caroli Syndrome	Cholangiocarcinoma, Abnormality of the kidney, Portal hypertension, Hematemesis, Esophageal varix...	ORPHA:480520
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal...	OMIM:122880
Glucagonoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormal gastrointestinal motility, Steatorr...	ORPHA:97280
Unilateral Polymicrogyria	Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Pseudobulbar paralysi...	ORPHA:268943
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Prominent nasal bridge, Underdeveloped nasal alae, Ileus, Wide nasal bridg...	ORPHA:163746
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation...	OMIM:606721
Mednik Syndrome	Jejunal atresia, Growth delay, Neonatal death, Volvulus, Microcolon	OMIM:609313
Pachyonychia Congenita 3	Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palmar hyperkeratosis, Oral l...	OMIM:615726
Retinitis Pigmentosa 74	Abnormal renal morphology, Polydactyly	OMIM:616562
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Aprosencephaly And Cerebellar Dysgenesis	Micrognathia, Poorly formed metencephalon, Talipes equinovarus, Bifid uvula, Cerebellar dysplasia	OMIM:601374
Meconium Ileus	Microcolon, Meconium ileus	OMIM:614665
Monomelic Amyotrophy	Distal upper limb amyotrophy, Abnormality of the upper limb	ORPHA:65684

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 Cplane1

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cplane1.

No publications found that use IMPC mice or data for Cplane1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cplane1^{tm55508(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cplane1^em1(IMPC)Tcp	Indel	Mice, Tissue
Cplane1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cplane1 MGI:1920942

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Pathology and Tissue Collection

X-ray

X-ray

X-ray

Eye Morphology

Immunophenotyping

Gross Morphology Embryo E14.5-E15.5

Immunophenotyping

Human diseases caused by Cplane1 mutations

Histopathology

IMPC related publications

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