Gene Summary

Name:
pericentrin (kendrin)
Synonyms:
Pcnt2,  m275Asp,  m239Asp

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal testis morphology Pcntem1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Pcntem1(IMPC)Mbp HET Early adult 0.00
small testis Pcntem1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Pcntem1(IMPC)Mbp HET Early adult 0.00
anophthalmia Pcntem1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Pcntem1(IMPC)Mbp HET Early adult 2.08×10-05
preweaning lethality, complete penetrance Pcntem1(IMPC)Mbp HOM   Early adult 0.00
small kidney Pcntem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Pcntem1(IMPC)Mbp HET Early adult 0.00
decreased body length Pcntem1(IMPC)Mbp HET Early adult 1.65×10-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Human diseases caused by Pcnt 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Mosaic Trisomy 1
Renal cortical cysts, Absent distal interphalangeal creases, Cerebellar hypoplasia, Hand clenchin... ORPHA:1692
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Abnormal localization of kidney, Postaxial hand polydactyly, Ventricular septal def... ORPHA:83473
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hypoplasia of the corpus callosum, Postaxial polydactyly, Atrial septal defect, Abnormally large ... OMIM:603387
Trisomy 1Q
Cerebellar hypoplasia, Hydronephrosis, Abnormal rib morphology, Multicystic kidney dysplasia, Ven... ORPHA:261344
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cerebellar hypoplasia, Hydronephrosis, Decreased fibular diameter, Microcephaly, Ventricular sept... OMIM:616897
19P13.12 Microdeletion Syndrome
Long philtrum, Sandal gap, Clinodactyly of the 5th finger, Microcephaly, Ventricular septal defec... ORPHA:254346
Mosaic Variegated Aneuploidy Syndrome
Colon cancer, Aplasia/Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Multicys... ORPHA:1052
Thanatophoric Dysplasia
Abnormal ilium morphology, Micromelia, Cloverleaf skull, Macrocephaly, Hip dysplasia, Brachydacty... ORPHA:2655
Mosaic Trisomy 9
Prominent occiput, Endocardial fibroelastosis, Hydronephrosis, Dextrocardia, Microcephaly, Dandy-... ORPHA:99776
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormal hip bone morphology, Syndactyly, Congenital malformation of the great ar... ORPHA:294975
Trisomy 13
Long philtrum, Hydronephrosis, High, narrow palate, Abnormal rib morphology, Ventricular septal d... ORPHA:3378
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Hydrops fetalis, Multicystic kidney dyspl... ORPHA:1909
Infantile Sialic Acid Storage Disease
Cerebral atrophy, High palate, Metaphyseal irregularity, Nephrotic syndrome, Congestive heart fai... OMIM:269920
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Occipital encephalocele, Micropenis, Short ribs, Anterior hypopituitarism... OMIM:241800
C Syndrome
Clinodactyly, Renal cortical cysts, Microcephaly, Micromelia, Ventricular septal defect, Hip disl... OMIM:211750
Apert Syndrome
Bifid uvula, Cerebellar hypoplasia, Hydronephrosis, Rhizomelic arm shortening, Ventricular septal... OMIM:101200
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Long philtrum, Hyperintensity of cerebral white matter on MRI, Macro... ORPHA:363705
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Abnormal heart morphology, Microcephaly, Delayed pub... OMIM:233270
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Narrow mouth, Cerebral atrophy, High palate, Patent foramen ovale, Long philtrum, Midface retrusi... OMIM:615539
Mulibrey Nanism
Ascites, Cardiomegaly, Pericardial constriction, Intrauterine growth retardation, Single transver... OMIM:253250
Klippel-Trénaunay Syndrome
Upper limb asymmetry, Gastrointestinal hemorrhage, Hematuria, Congestive heart failure, Abnormal ... ORPHA:90308
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Cystic renal dysplasia, Broad palm, Hamartoma of tongue, Ventricular septal defe... OMIM:269860
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Abnormal corpus callosum morphology, Abnormal 5th metacarpal morphology, Ce... ORPHA:397715
Renal Tubular Dysgenesis
Tetralogy of Fallot, Bilateral single transverse palmar creases, Proximal tubulopathy, Microcepha... ORPHA:3033
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma OMIM:616428
Loeffler Endocarditis
T-wave inversion, Right bundle branch block, Abnormal cardiomyocyte morphology, Endocardial fibro... ORPHA:75566
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Everted lower lip vermilion, Macroglossia, Microcephaly, Cerebral cortical he... ORPHA:96147
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, D-2-hydroxyglutaric aciduria, Frontal bossing, Cardiomyopathy, Inspiratory ... OMIM:600721
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Duplication of phalanx of hand, Clinodactyly of the 5th finger, Optic nerve hypopl... ORPHA:508498
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Tapered finger, Tented upper lip vermilion, Short thumb, Microcephaly, Dan... OMIM:619148
Mosaic Variegated Aneuploidy Syndrome 2
Clinodactyly, Clinodactyly of the 5th finger, Microcephaly, Ventricular septal defect, Abnormal l... OMIM:614114
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Noonan Syndrome 13
Clinodactyly, Long philtrum, Widely spaced teeth, Microdontia, Tapered finger, Microcephaly, Mitr... OMIM:619087
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Coronary artery atherosclerosis, Prenatal maternal abnormality, Hypertension... ORPHA:91387
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:611638
Distal 22Q11.2 Microdeletion Syndrome
Sandal gap, Clinodactyly of the 5th finger, High, narrow palate, Microcephaly, Recurrent urinary ... ORPHA:261330
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Diffuse reticular or finely nodular infiltrations, Wheezing... ORPHA:2302
Monosomy 18Q
Cerebellar hypoplasia, Left-to-right shunt, Tapered finger, Microcephaly, Dysplastic pulmonary va... ORPHA:1600
Endocardial Fibroelastosis
Abnormal palate morphology, Endocardial fibroelastosis, Congestive heart failure, Sandal gap, Ant... ORPHA:2022
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, High palate, Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe synd... ORPHA:3304
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Hamartoma of tongue, Polycystic kidney dysplasia, Ventricular septal defect, Pol... OMIM:263520
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Pulmonary insufficiency, Respirator... OMIM:602088
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Toxemia of pregnancy, Crackles, Left bu... ORPHA:563
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Fetal pyelectasis, Dolichocephaly, Cerebellar hypoplasia, Overlapping fingers, Perisylvian polymi... OMIM:616531
Catel-Manzke Syndrome
Overriding aorta, High palate, Ulnar deviation of the 2nd finger, Cleft upper lip, Intrauterine g... OMIM:616145
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aplasia/Hypoplasia of the corpus callosum, Hydronephrosis, High, narrow palate, Macroglossia, Uln... OMIM:214100
Zttk Syndrome
Unilateral renal agenesis, Dysplastic corpus callosum, Bifid uvula, Cerebellar hypoplasia, Polyur... OMIM:617140
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Clinodactyly, Single transverse palmar crease, Patent ductus arteriosus, Atrial sept... OMIM:612541
2P15P16.1 Microdeletion Syndrome
Long philtrum, Cerebellar hypoplasia, Hydronephrosis, Sandal gap, Optic nerve hypoplasia, Everted... ORPHA:261349
Ritscher-Schinzel Syndrome 1
Prominent occiput, Tetralogy of Fallot, Missing ribs, Intrauterine growth retardation, Atrial sep... OMIM:220210
Congenital Disorder Of Glycosylation, Type Ik
Cerebral atrophy, Intrauterine growth retardation, Nonimmune hydrops fetalis, Microcephaly, Cardi... OMIM:608540
Turnpenny-Fry Syndrome
Clinodactyly, Widely spaced teeth, Microdontia, Tapered finger, Microcephaly, Small hand, Thin up... OMIM:618371
15Q Overgrowth Syndrome
Bifid uvula, Hydronephrosis, Clinodactyly of the 5th finger, High, narrow palate, Dandy-Walker ma... ORPHA:314585
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Bifid uvula, Cleft upper lip, Tracheomalacia, Patent ductus arteriosus, Atri... OMIM:612561
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Short thumb, Multicystic kidney dysplasia, Renal dysplasia, Esophagit... ORPHA:2538
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Renal cortical microcysts, Intrauterine growth retardation, Single transverse palmar ... OMIM:614866
Grange Syndrome
Aortic regurgitation, Patent ductus arteriosus, Short palm, Hypertension, Ventricular septal defe... ORPHA:79094
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Wormian bones, Intrauterine growth retardation, Aortic regurgitation, ... OMIM:616603
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Stroke, Abnormal left ventricular function, Aortic regu... ORPHA:229
Hurler Syndrome
Hypoplasia of the femoral head, Endocardial fibroelastosis, Urinary glycosaminoglycan excretion, ... OMIM:607014
Marden-Walker Syndrome
Long philtrum, Cerebellar hypoplasia, Dextrocardia, High, narrow palate, Microcephaly, Dandy-Walk... OMIM:248700
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Renal cyst, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndact... OMIM:236500
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Narrow palate, Intrauterine growth retardation, Long philtrum, Hyd... OMIM:617022
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Microdontia, Short uvula, Polycystic kidney dysplasia, Micromelia, Ascites, Cleft palate, Brachyd... OMIM:614091
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Polydactyly, Microphthalmia, Microcephaly, Postaxial hand polydact... OMIM:613885
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Broad palm, Everted lower lip vermilion, Congenital hip dislocatio... OMIM:300280
Mucolipidosis Ii Alpha/Beta
Long philtrum, Macroglossia, Metaphyseal widening, Cardiomegaly, Hip dislocation, Recurrent pneum... OMIM:252500
Meckel Syndrome, Type 4
Bowing of the long bones, Renal cyst, Hypoplasia of the corpus callosum, Intrauterine growth reta... OMIM:611134
Yunis-Varon Syndrome
Abnormal pelvis bone morphology, Cerebellar hypoplasia, Abnormality of dental structure, Tapered ... ORPHA:3472
Cednik Syndrome
Abnormal corpus callosum morphology, Nephrotic syndrome, Stroke, Dolichocephaly, Congestive heart... ORPHA:66631
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Shoulder dislocation, Aortic regurgitation, High, narrow palate, Arachnodactyly, Adducted thumb, ... ORPHA:2181
Alg3-Cdg
High palate, Coarctation of the descending aortic arch, Abnormality of limb bone morphology, Abno... ORPHA:79321
Temtamy Syndrome
Brachydactyly, Agenesis of corpus callosum, Aortic regurgitation, Long philtrum, Ventriculomegaly... OMIM:218340
Primary Ciliary Dyskinesia
Double outlet right ventricle, Productive cough, Recurrent sinopulmonary infections, Wheezing, An... ORPHA:244
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Tented upper... ORPHA:457395
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Short philtrum, Intrauterine growth retardation, Arrhythmia,... ORPHA:1194
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Acromesomelia, Hydronephrosis, Clinodactyly of the 5th finger, Microce... ORPHA:464306
Czeizel-Losonci Syndrome
Hydronephrosis, Dextrocardia, Spina bifida, 2-3 finger syndactyly, High palate, Single transverse... ORPHA:2437
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Tetralogy of Fallot, Abnormality of lower lip, Tooth agenesis, Micr... ORPHA:1166
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Cutaneous syndactyly, Atrial... OMIM:618316
Cardiac-Valvular Ehlers-Danlos Syndrome
Sandal gap, Recurrent shoulder dislocation, Hallux valgus, Mitral regurgitation, Genu valgum, Lef... ORPHA:230851
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Clinodactyly of the 5th finger, Double outlet right ventricle, Ventricular septal... OMIM:179613
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Growth delay, Abnormal heart morphology, Recurrent respiratory infections, ... OMIM:617744
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Micropenis, Hydrops fetalis, Hypertrophic cardiomyopathy, Simplified gyra... OMIM:618815
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Polydactyly, Microphthalmia, Nephroblastoma, Ventricul... OMIM:602501
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Drooling, Congestive heart failure, Atrial septal defect, Open mouth, Tented up... ORPHA:500533
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cerebellar hypoplasia, Hydronephrosis, Bulbous tips of toes, Microcephaly, Ventricular septal def... ORPHA:163979
Gillessen-Kaesbach-Nishimura Syndrome
Metaphyseal widening, Polycystic kidney dysplasia, Microcephaly, Abnormal heart morphology, Polyh... OMIM:263210
Meckel Syndrome, Type 1
Clinodactyly, Foot polydactyly, Cerebellar hypoplasia, Syndactyly, Polycystic kidney dysplasia, M... OMIM:249000
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Colpocephaly, Chordee, Arrhythmia, Histiocytoid cardiomyopathy, Micropenis, Atr... OMIM:309801
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Anophthalmia, Microphthalmia OMIM:615524
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Dilated cardiomyopathy, Pulmonary insufficiency, Aortic regurgitation, Congestive... ORPHA:2326
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Intrauterine growth retardation, Elevated urinary 4-hydroxybutyric acid, Nonimmun... OMIM:619003
Microphthalmia, Syndromic 9
Renal malrotation, Hydronephrosis, Single ventricle, Ventricular septal defect, Right aortic arch... OMIM:601186
Rowley-Rosenberg Syndrome
Recurrent pneumonia, Growth delay, Pulmonary arterial hypertension, Aminoaciduria, Atelectasis, H... OMIM:268500
Fryns Syndrome
Long philtrum, Hydronephrosis, Clinodactyly of the 5th finger, Tented upper lip vermilion, Multic... ORPHA:2059
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Congenital Disorder Of Glycosylation, Type Iif
Short philtrum, Clinodactyly, Aortic regurgitation, Proteinuria, Pulmonary hemorrhage, Microcepha... OMIM:603585
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Abnormal renal corticomedullary differentiation, Oligohydramnios... OMIM:616733
Alg9-Cdg
Ureteral hypoplasia, Bifid uvula, Progressive microcephaly, Long philtrum, Hydronephrosis, Ventri... ORPHA:79328
Noonan Syndrome 8
Patent ductus arteriosus, Atrial septal defect, Palmoplantar cutis laxa, Hypertrophic cardiomyopa... OMIM:615355
Osteogenesis Imperfecta
Prominent occiput, Fractures of the long bones, Abnormal hip bone morphology, Abnormal rib morpho... ORPHA:666
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Posterior pituitary hypoplasia, Hydronephrosis, Tapered finger, Microc... ORPHA:464311
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Mitral regurgitation, Bowing of the long bones, High palate, Patent du... OMIM:121050
16Q24.3 Microdeletion Syndrome
Biparietal narrowing, Dilated cardiomyopathy, High palate, Colpocephaly, Solitary median maxillar... ORPHA:261250
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Mucopolysaccharidosis, Type Vii
Proximal tapering of metacarpals, Urinary glycosaminoglycan excretion, Widely spaced teeth, Macro... OMIM:253220
Chromosome 6Q24-Q25 Deletion Syndrome
Long philtrum, Dysplastic tricuspid valve, Sandal gap, High, narrow palate, Small hand, Dysplasti... OMIM:612863
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
3C Syndrome
Prominent occiput, Abnormal hip bone morphology, Missing ribs, Hydronephrosis, Abnormal mitral va... ORPHA:7
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Aortic regurgitation, Abnormal left ventricular function, Str... OMIM:132900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Cerebellar hypoplasia, Squared iliac bones, Dandy-Walker malformation, Cleft pal... OMIM:616300
Mucopolysaccharidosis, Type X
Hip dysplasia, Nephrolithiasis, Aortic regurgitation, Long philtrum, Open bite, Spatulate ribs, I... OMIM:619698
Chromosome 18Q Deletion Syndrome
Bifid uvula, Cerebellar hypoplasia, Microcephaly, Ventricular septal defect, Dysplastic pulmonary... OMIM:601808
Cardiac Lipidosis, Familial
Microcephaly, Cardiomyopathy, Congestive heart failure OMIM:212080
Distal Monosomy 15Q
Multicystic kidney dysplasia, Hypoplastic left heart, Microcephaly, Mitral stenosis, Small hand, ... ORPHA:1596
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Abnormal respiratory system physiology, Tachypnea, Right bundle branch ... ORPHA:99106
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Rocker bottom foot, Decreased fetal movement, Microphthalmia, Mi... OMIM:616570
Pseudo-Torch Syndrome 2
Cerebral calcification, Petechiae, Patent ductus arteriosus, Abnormal renal corticomedullary diff... OMIM:617397
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction, Arrhy... OMIM:615373
Periventricular Nodular Heterotopia
Shoulder dislocation, Abnormal heart valve morphology, Aortic regurgitation, Patent ductus arteri... ORPHA:98892
Noonan Syndrome 14
Clinodactyly, Bruising susceptibility, Aortic regurgitation, Long philtrum, Hypertrophic cardiomy... OMIM:619745
22Q11.2 Deletion Syndrome
Foot polydactyly, Gastrointestinal hemorrhage, Tricuspid atresia, Long philtrum, Abnormal aortic ... ORPHA:567
Distal Tetrasomy 15Q
High palate, Craniosynostosis, Horseshoe kidney, Intrauterine growth retardation, Patent ductus a... ORPHA:314588
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Tachypnea, Abnormal superior vena cav... ORPHA:3384
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Urinary glycosaminoglycan excretion, Macroglossia, Mitral regurgitation, Patent fora... ORPHA:505248
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Metopic synostosis, Camptodactyly of toe, Macrocephaly, Broad thum... OMIM:175700
Odontochondrodysplasia 1
Genu varum, Delayed ossification of carpal bones, Long philtrum, Polycystic kidney dysplasia, Mic... OMIM:184260
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Long philtrum, 2-3 toe syndactyly, Atrial septal defect, ... ORPHA:477817
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cardiac arrest, Broad first metatarsal, Hydronephrosis, Left-to-right shunt, Everted lower lip ve... OMIM:619534
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Microcephaly, Micromelia, Broad long bones, Cleft palate, Encephalocele, Na... ORPHA:1865
Martsolf Syndrome 1
Cardiac arrest, Tracheomalacia, Broad fingertip, Microcephaly, Short toe, Tooth malposition, High... OMIM:212720
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Long philtrum, Micromelia, Ventricular septal defect, Macrocephaly, Scapular winging, Genu valgum... OMIM:618870
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs, Abnormality of limb bone morphology, Hydrops fetalis, Microcepha... ORPHA:2204
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Short thumb, Abnormal aortic valve morphology, Abnormal rib morphology... ORPHA:1120
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Short chordae tendineae of the mitral valve, Congestive heart failure, Bicu... OMIM:314400
Smith-Lemli-Opitz Syndrome
Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Hydronephrosis, Abnormal rib morphology... ORPHA:818
Thanatophoric Dysplasia Type 2
Brachydactyly, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal defect, A... ORPHA:93274
Cardiomyopathy, Familial Hypertrophic, 15
Dyspnea, Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Patent ductus arteriosus, 11 pairs of ribs, Tracheoeso... ORPHA:77298
Holoprosencephaly
Proteinuria, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Dandy-W... ORPHA:2162
Leigh Syndrome With Cardiomyopathy
Global brain atrophy, Renal dysplasia, Mitral regurgitation, Renal agenesis, Renal tubular acidos... ORPHA:70474
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Cerebellar hypoplasia, 11 pairs of ribs, Dextrocardia, Microcephaly, Ventricul... OMIM:264480
Arterial Tortuosity Syndrome
Hiatus hernia, High palate, Bruising susceptibility, Aortic regurgitation, Long philtrum, General... OMIM:208050
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Prominent occiput, Long philtrum, Dolichocephaly, Short ribs, Res... OMIM:617895
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Widely spaced teeth, Dandy-Walker malformation, Small hand, Cleft palate, Cerebellar vermis hypop... ORPHA:459061
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Hydrops fetalis... OMIM:601927
Mmep Syndrome
Triphalangeal thumb, Microphthalmia, Microcephaly, Ventricular septal defect, Oral cleft, Split f... ORPHA:3434
Otopalatodigital Syndrome Type 2
Carpal synostosis, Cerebellar hypoplasia, Hydronephrosis, Short thumb, Abnormal rib morphology, C... ORPHA:90652
Tonne-Kalscheuer Syndrome
Narrow mouth, Brachydactyly, Velopharyngeal insufficiency, Micropenis, Growth delay, Microcephaly... OMIM:300978
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Weill-Marchesani Syndrome 2
Broad palm, Ventricular septal defect, Mitral regurgitation, Proportionate short stature, Tooth m... OMIM:608328
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Hypoxemia, Cr... OMIM:610978
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia o... ORPHA:1263
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Intrauterine growth retardation, Sandal gap, Clinodactyly of the 5th fing... ORPHA:2515
Pallister-Hall Syndrome
Hypothalamic hamartoma, Preductal coarctation of the aorta, Panhypopituitarism, Hydronephrosis, S... OMIM:146510
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal mitral valve morphology, Abnormality of blood circulation, Tachypnea, Ventric... ORPHA:860
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Stroke, Abnormal left ventricular functi... ORPHA:75249
Emanuel Syndrome
Unilateral renal agenesis, Bifid uvula, Long philtrum, Microcephaly, Dandy-Walker malformation, V... ORPHA:96170
Transaldolase Deficiency
Abnormal respiratory system physiology, Atrial septal defect, Biventricular hypertrophy, Hydrops ... ORPHA:101028
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Long philtrum, Urinary glycosaminoglycan excretion, Macroglossia, ... ORPHA:79255
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Polycystic kid... OMIM:231680
Neu-Laxova Syndrome 1
Clinodactyly, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Spina bifida, Dandy-Walker malf... OMIM:256520
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Cystic renal dysplasia, Type I truncus arteriosus, Abnormal lung lobat... OMIM:156810
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Catel-Manzke Syndrome
Metatarsus valgus, Abnormality of epiphysis morphology, Atrial septal defect, Clinodactyly of the... ORPHA:1388
Weill-Marchesani Syndrome 1
Brachydactyly, Mitral regurgitation, Patent ductus arteriosus, Proportionate short stature, Broad... OMIM:277600
Tatton-Brown-Rahman Syndrome
Widely spaced toes, Proportionate short stature, Patent ductus arteriosus, Aortic root aneurysm, ... ORPHA:404443
Gm1-Gangliosidosis, Type I
Thickened ribs, Dilated cardiomyopathy, Cherry red spot of the macula, Abnormal heart valve morph... OMIM:230500
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Micropenis, Atrial septal defect, Anencephaly, Hydrops fetalis, Short ribs... OMIM:616546
Mosaic Trisomy 16
Clinodactyly, Single coronary artery origin, Short thumb, Short forearm, Ventricular septal defec... ORPHA:1708
Gm1 Gangliosidosis
Cherry red spot of the macula, Long philtrum, Macroglossia, Ventricular septal defect, Coarse met... ORPHA:354
Loeys-Dietz Syndrome 5
Bifid uvula, Increased arm span, Tented upper lip vermilion, Ventricular septal defect, Mitral re... OMIM:615582
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Atrial septal defect, Tented upper lip vermilion, Mic... ORPHA:896
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Aspiration pneumonia, Lacticacidur... OMIM:619167
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Dyspnea, Atrial fibrillation, Mitral regurgitation, Left atrial enlarge... OMIM:617047
Meier-Gorlin Syndrome 7
Progressive microcephaly, Duodenal stenosis, Ventricular septal defect, Aplasia/Hypoplasia of the... OMIM:617063
Pentalogy Of Cantrell
Renal agenesis, Tetralogy of Fallot, Abnormal pericardium morphology, Non-midline cleft lip, Atri... ORPHA:1335
Meconium Aspiration Syndrome
Premature rupture of membranes, Transient pulmonary infiltrates, Pulmonary insufficiency, Hypoxem... ORPHA:70588
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Long philtrum, Hammertoe, Hydronephrosis, Short thumb, Microcephaly, D... OMIM:270400
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Pulmonic stenosis, Cough, Pulmonary ... ORPHA:2414
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Long philtrum, Severe short stature, Hydrops fetalis, Abnormal r... ORPHA:93298
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Aplasia/Hypoplasia of the corpus callosum, Hydronephro... OMIM:201000
Hunter-Macdonald Syndrome
Clinodactyly of the 5th finger, Hypertension, Mitral regurgitation, Thin upper lip vermilion, Aor... OMIM:611962
Charge Syndrome
Hydronephrosis, Dysplastic tricuspid valve, Short thumb, Double outlet right ventricle, Abnormal ... OMIM:214800
Primary Pulmonary Hypoplasia
Ureteral stenosis, Restrictive ventilatory defect, Hypoxemia, Intrauterine growth retardation, Pa... ORPHA:2257
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydronephrosis, Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, At... OMIM:265380
Fibular Hemimelia
Fibular hypoplasia, Spina bifida, Renal dysplasia, Short tibia, Short toe, Abnormal morphology of... ORPHA:93323
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tracheomalacia, Long philtrum, Microdontia, Hallux valgus, Metaphyseal widening, Dentinogenesis i... ORPHA:536467
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, High palate, Bilateral talipes equinovarus, Intrauterine growth retard... OMIM:618142
Williams Syndrome
Long philtrum, Open bite, Proteinuria, Clinodactyly of the 5th finger, Everted lower lip vermilio... ORPHA:904
Mucopolysaccharidosis, Type Ii
Severe short stature, Urinary glycosaminoglycan excretion, Widely spaced teeth, Macroglossia, Int... OMIM:309900
Ctcf-Related Neurodevelopmental Disorder
Long philtrum, Sandal gap, Clinodactyly of the 5th finger, Microdontia, Microcephaly, Mitral regu... ORPHA:363611
Weill-Marchesani Syndrome
Brachydactyly, Short thumb, Pulmonic stenosis, Short stature, Ventricular septal defect, Mitral r... ORPHA:3449
Simpson-Golabi-Behmel Syndrome, Type 2
Clinodactyly, Broad palm, Tapered finger, Multicystic kidney dysplasia, Thin upper lip vermilion,... OMIM:300209
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Clinodactyly of the 5th finger, Widely patent coronal suture, ... OMIM:228520
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts, Periventricular cysts, Microcephaly, Cerebral cortical atrophy, Respiratory... OMIM:617668
Cranioectodermal Dysplasia 2
Horizontal ribs, Clinodactyly, Everted lower lip vermilion, Widely spaced teeth, Microdontia, Met... OMIM:613610
Mucolipidosis Type Ii
Respiratory failure requiring assisted ventilation, Abnormal mitral valve morphology, Abnormal ao... ORPHA:576
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Tracheomalacia, Intrauterine growth re... OMIM:608022
Trisomy 17P
Hydronephrosis, Clinodactyly of the 5th finger, Tapered finger, Polycystic kidney dysplasia, Micr... ORPHA:261290
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Femoral bowing, Pulmonic st... OMIM:615415
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Bifid uvula, Cone-shaped epiphysis, Widely spaced teeth, Microdontia, Macroglossia, Microcephaly,... OMIM:266920
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Aortic regurgitation, Flared iliac wing, Short stature, Genu valg... OMIM:252605
Tarp Syndrome
Clinodactyly, Abnormal corpus callosum morphology, Abnormal duodenum morphology, Cerebellar hypop... ORPHA:2886
Verheij Syndrome
Renal agenesis, Cerebral atrophy, Renal cyst, Clinodactyly, Long philtrum, Renal hypoplasia, Shor... OMIM:615583
Trichohepatoenteric Syndrome 1
Narrow mouth, Tetralogy of Fallot, Bifid uvula, Renal cortical microcysts, Aortic regurgitation, ... OMIM:222470
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the dentition, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:3268
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Agenesis of corpus callosum, Patent ductus arteriosus, Ventriculomegaly, Coarctation ... OMIM:617260
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot, Missing ribs, Foot polydactyly, Phocomelia, Hypoplasia of ... ORPHA:3186
Fontaine Progeroid Syndrome
Long philtrum, Cerebellar hypoplasia, Everted lower lip vermilion, Microdontia, High, narrow pala... OMIM:612289
Tetrasomy 5P
High palate, Long philtrum, Congestive heart failure, Cerebellar hypoplasia, Clinodactyly of the ... ORPHA:3309
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Long philtrum, Short palm, Severe short stature, Hydrops fetalis... ORPHA:93299
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Hydrops fetalis, Hypertrophic cardiomyopathy, Increased nuchal t... ORPHA:295
Cardiomyopathy, Dilated, 1Kk
Ventricular septal hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic ca... OMIM:615248
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Foot polydactyly, Agenesis of corpus callosum, Tracheomalacia, Short palm, Hydrop... ORPHA:268249
Hydrolethalus
Anophthalmia, Bifid uvula, Agenesis of corpus callosum, Anencephaly, Unilateral cleft lip, Microp... ORPHA:2189
Marfanoid Hypermobility Syndrome
High palate, Aortic regurgitation, High, narrow palate, Arachnodactyly, Aortic aneurysm, Mitral r... OMIM:154750
Oculocerebrocutaneous Syndrome
Anophthalmia, Agenesis of corpus callosum, Congenital hip dislocation, Microphthalmia, Dandy-Walk... OMIM:164180
Microphthalmia With Limb Anomalies
Fibular hypoplasia, Sandal gap, Cleft palate, Hip dislocation, High palate, Anophthalmia, Cleft u... OMIM:206920
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Short philtrum, Aortic root aneurysm, Atrial septal defect, Open mouth, Midface retrusion, Arachn... OMIM:301039
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Bowing of the long bones, Missing ribs, Craniosynostosis, Camptodact... ORPHA:2462
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Agenesis of corpus callosum, Abnormality of epiphysis m... ORPHA:93267
Emanuel Syndrome
Long philtrum, Microcephaly, Ventricular septal defect, Cleft palate, Renal agenesis, High palate... OMIM:609029
Scheie Syndrome
Genu valgum, Obstructive sleep apnea, Aortic valve stenosis, Aortic regurgitation OMIM:607016
Hamamy Syndrome
High palate, Clinodactyly, Short 2nd finger, Craniosynostosis, Long philtrum, Long toe, Atrial se... OMIM:611174
Endocardial Fibroelastosis
Endocardial fibroelastosis, Cardiomyopathy, Congestive heart failure OMIM:226000
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Aortic regurgitation, Tapered finger, Short stature, Renovascular hyperte... ORPHA:401923
Dextrocardia With Unusual Facies And Microphthalmia
Supernumerary ribs, Anophthalmia, Dextrocardia, Microphthalmia, Cleft palate OMIM:221950
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Bruising susceptibility, Calcaneovalgus deformity, Aortic regurgitation, Mitral regurgitation, Mi... OMIM:225320
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Hypophosphatasia, Infantile
Bowing of the legs, Elevated urine pyrophosphate, Nephrocalcinosis, Disproportionate short-limb s... OMIM:241500
Baraitser-Winter Syndrome 1
Cleft upper lip, Agenesis of corpus callosum, Patent ductus arteriosus, Long philtrum, Micropenis... OMIM:243310
Aortic Arch Interruption
Tachypnea, Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertensi... ORPHA:2299
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Patent ductus ar... OMIM:616501
Noonan Syndrome 10
High palate, Patent ductus arteriosus, Atrial septal defect, Palmoplantar cutis laxa, Hypertrophi... OMIM:616564
Opitz gbbb syndrome, type II
Bifid uvula, Aspiration, Ventricular septal defect, Thin upper lip vermilion, Cleft palate, Cereb... OMIM:145410
Acute Interstitial Pneumonia
Pulmonary infiltrates, Hypoxemia, Crackles, Tachypnea, Hypertension, Nodular pattern on pulmonary... ORPHA:79126
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Hydronephrosis, Tapered finger, Polycystic kidney dysplasia, Microcephaly, R... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 17
Microcephaly, Hypertrophic cardiomyopathy, Growth delay, Congestive heart failure OMIM:615440
Sandestig-Stefanova Syndrome
High palate, Clinodactyly, Trigonocephaly, Intrauterine growth retardation, Prominent metopic rid... OMIM:618804
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Dysplastic corpus callosum, Left-to-right shunt, Recurrent urinary tra... ORPHA:363444
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Genitopatellar Syndrome
Hypoplastic ischia, Delayed eruption of teeth, Agenesis of corpus callosum, Long philtrum, Atrial... ORPHA:85201
Fryns Syndrome
Long philtrum, Joint contracture of the hand, Hydronephrosis, Hypoplasia of the optic tract, Tent... OMIM:229850
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Respiratory failure, Ventricular septal def... OMIM:228940
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Proteinuria, Congestive heart failure, Hypertrophic cardiomyopathy, Glomerulopathy, H... ORPHA:225
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Narrow mouth, Genu varum, Abnormal aortic arch morphology, Abnormal hip bone mo... ORPHA:1110
Diabetic Embryopathy
Tetralogy of Fallot, Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, Hydronephrosis, ... ORPHA:1926
Cardiospondylocarpofacial Syndrome
Brachydactyly, Synostosis of carpal bones, Short palm, Severe short stature, Failure of eruption ... ORPHA:3238
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Long philtrum, Widely spaced teeth, Microdontia, Mitral stenosis, Ventricul... OMIM:143095
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Microcephaly, Mitral regurgitation, Hip dislocation, Emphysema, Pyelon... ORPHA:90348
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Abnormal cerebral morphology, Hypertrophic cardiomyopathy, Respiratory ... ORPHA:70472
Fabry Disease
Proteinuria, Bundle branch block, Abnormal aortic valve morphology, Telangiectasia of the skin, H... ORPHA:324
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal left ventricle morphology, Long philtrum, S... OMIM:300845
Walker-Warburg Syndrome
Abnormal cortical gyration, Anophthalmia, Bifid uvula, Agenesis of corpus callosum, Metatarsus va... ORPHA:899
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Atrial flutter, Protruding tongue, Abnormal atrioventricular valve mor... ORPHA:324410
Hurler-Scheie Syndrome
Aortic regurgitation, Contracture of the distal interphalangeal joint of the fingers, Thenar musc... OMIM:607015
Raine Syndrome
Hydronephrosis, Microdontia, Microcephaly, Micromelia, Cleft palate, Narrow mouth, High palate, B... OMIM:259775
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Sinus tachycardia, Right bundle branch block, Rib osteolysis, Atheroscl... OMIM:614008
Aspergillosis
Pulmonary infiltrates, Abnormal rib morphology, Diffuse reticular or finely nodular infiltrations... ORPHA:1163
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Abnormality of toe, Chordee, Posterior pituitary hypoplasia, Widely sp... ORPHA:268261
Microcephaly-Micromelia Syndrome
Narrow mouth, Craniosynostosis, Intrauterine growth retardation, Absent radius, Aplasia/Hypoplasi... OMIM:251230
Feingold Syndrome 2
2-3 toe syndactyly, 3-4 toe syndactyly, Short thumb, Short middle phalanx of the 2nd finger, Shor... OMIM:614326
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Intestinal perforation, Gastrointestinal hemorrhage, Abnormal vascular morphology, Central sleep ... ORPHA:464321
3P25.3 Microdeletion Syndrome
Acromesomelia, Tapered finger, High, narrow palate, Coronary artery atherosclerosis, Ventricular ... ORPHA:435638
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Micromelia, Cloverleaf skull, Macrocephaly, Lethal short-limbed shor... ORPHA:1860
Coronary Arterial Fistula
Tachypnea, Coronary artery aneurysm, Pedal edema, Cardiomegaly, Patent foramen ovale, Arrhythmia,... ORPHA:2041
Campomelia, Cumming Type
Brachydactyly, Bowing of the long bones, Dolichocephaly, Pancreatic cysts, Hydrops fetalis, Aplas... ORPHA:1318
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Cystic renal dysplasia, Long philtrum, Clinodactyly of the 5th finger, Everted lower lip vermilio... OMIM:220500
Yunis-Varon Syndrome
Clinodactyly, Decreased calvarial ossification, Absent middle phalanx of 2nd finger, Aplasia/Hypo... OMIM:216340
Mucopolysaccharidosis Type 1
Abnormal hip bone morphology, Everted lower lip vermilion, Widely spaced teeth, Abnormal aortic v... ORPHA:579
Mend Syndrome
High palate, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Dandy-Walker malformation, Mid... OMIM:300960
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Patent foramen ovale, Patent ductus arteriosus, Respiratory failure, ... OMIM:616867
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Clinodactyly, Proteinuria, Microcephaly, Ventricular septal defect, ... OMIM:618348
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hemolytic-uremic syndrome, Microcephaly, Subdural hemorrhage, Glossitis, Intrauterine growth reta... ORPHA:79282
Neuraminidase Deficiency
Cherry red spot of the macula, Urinary excretion of sialylated oligosaccharides, Proteinuria, Hyd... OMIM:256550
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Long philtrum, Optic nerve hypoplasia, Widely spaced teeth, Right bundle branch bloc... OMIM:617506
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Pulmonic stenosis, Arachnodac... OMIM:609008
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Congestive heart failure, Increased urine succinate level, Ventr... OMIM:619048
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Even-Plus Syndrome
Dysplastic corpus callosum, High palate, Patent foramen ovale, Agenesis of corpus callosum, Atria... OMIM:616854
Basel-Vanagaite-Smirin-Yosef Syndrome
Clinodactyly, Hydronephrosis, Everted lower lip vermilion, Tented upper lip vermilion, Exaggerate... ORPHA:464738
Microphthalmia, Syndromic 2
Bifid uvula, Long philtrum, Hammertoe, Radiculomegaly, Sandal gap, Dextrocardia, Double outlet ri... OMIM:300166
Joubert Syndrome 14
Short philtrum, Renal cyst, Postaxial polydactyly, Open mouth, Tented upper lip vermilion, Growth... OMIM:614424
Kagami-Ogata Syndrome
Coxa valga, Long philtrum, Patent ductus arteriosus, Atrial septal defect, Thin ribs, Pulmonic st... OMIM:608149
Atelosteogenesis, Type Ii
Abnormality of pelvic girdle bone morphology, Short greater sciatic notch, Hitchhiker thumb, Sand... OMIM:256050
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Bruising susceptibility, Aortic valve stenosis, Gastrointestina... ORPHA:99147
Histiocytoid Cardiomyopathy
Shortened PR interval, Congenital aphakia, Tachypnea, Right bundle branch block, Atrial fibrillat... ORPHA:137675
Bardet-Biedl Syndrome 6
Renal cyst, Syndactyly, Hypospadias, Polydactyly OMIM:605231
Mpdu1-Cdg
Renal cortical cysts, Thin vermilion border, Ventriculomegaly, Wide anterior fontanel, Decreased ... ORPHA:79323
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Hypoplasia of the corpus callosum, Long philtrum, Atrial septal defect, Sand... OMIM:300887
Fg Syndrome Type 1
Prominent occiput, Abnormal thumb morphology, Long philtrum, Aplasia/Hypoplasia of the corpus cal... ORPHA:93932
Absence Of The Pulmonary Artery
Atrial fibrillation, Pedal edema, Cardiomegaly, Pulmonary edema, Recurrent pneumonia, Patent fora... ORPHA:980
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, Long philtrum, Severe short stature, 11 pairs of ribs, Ventricula... OMIM:271640
Microphthalmia, Syndromic 5
Anophthalmia, Micropenis, Cryptorchidism, Optic nerve hypoplasia, Microphthalmia, Coloboma, Ectop... OMIM:610125
Mitral Valve Prolapse 1
Mitral regurgitation, High palate, Mitral valve prolapse, High, narrow palate OMIM:157700
Tetrasomy 9P
Amelogenesis imperfecta, Bifid uvula, Missing ribs, Hydronephrosis, Abnormal mitral valve morphol... ORPHA:3310
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Ubiquitin-positive cerebral inclusion bodies, Congestive heart failure, Abnormality of long bone ... ORPHA:52430
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cerebellar hypoplasia, Hydronephrosis, Global brain atrophy, Optic nerve hypoplasia, Double outle... OMIM:301056
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Polycystic kidney dysplasia, Hypertension, Renal insufficiency, Mitral regur... OMIM:173900
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Serkal Syndrome
Renal agenesis, Malrotation of small bowel, Abnormal penis morphology, Growth delay, Pulmonic ste... ORPHA:139466
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Microcephaly, Porencephalic cyst, Patent ductus arteriosus ORPHA:254351
Bardet-Biedl Syndrome 10
Polydactyly, Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Pierpont Syndrome
Short palm, Micropenis, Broad palm, Everted lower lip vermilion, Widely spaced teeth, Prominent m... OMIM:602342
Feingold Syndrome Type 2
Brachydactyly, Toe syndactyly, Short thumb, Microcephaly, Jejunal atresia, Short stature, Short m... ORPHA:391646
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Clinodactyly, Proteinuria, Radial deviation o... OMIM:311200
Bresek Syndrome
Plagiocephaly, Intrauterine growth retardation, Renal hypoplasia, Optic nerve hypoplasia, Agangli... ORPHA:85284
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Macroglossia, Microcephaly, Metaphyseal widening, Recurrent pneumonia, Patent ductus... OMIM:617303
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Abnormal cortical gyration, Microcephaly, Hyperechogenic kidneys, Vent... OMIM:614576
Vacterl/Vater Association
Hydronephrosis, Abnormal rib morphology, Multicystic kidney dysplasia, Abnormality of the urethra... ORPHA:887
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Clinodactyly, Tapered finger, Right bundle branch block, Growth delay, Microcephaly, Short statur... OMIM:619576
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Long philtrum, Severe short stature, Hydrops fetalis, Thickened ... ORPHA:932
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Ascites, Encephalocele, Brachydactyly, Absent hand, Arteriovenous ma... ORPHA:974
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Microphthalmia, Microcephaly, Hypoplasia of the brainstem, Cortical dyspla... OMIM:615771
Filippi Syndrome
Short philtrum, Single transverse palmar crease, Intrauterine growth retardation, Cutaneous synda... OMIM:272440
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the corpus callosum, Multicystic kidney d... ORPHA:564
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Horseshoe kidney, Long philtrum, Cone-shaped epiphysis, Short s... OMIM:157800
Hadziselimovic Syndrome
High palate, Tetralogy of Fallot, Hypoplasia of the corpus callosum, Atrial septal defect, Renal ... OMIM:612946
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Congestive heart failure, Hydrops fetalis, Polyhydramnios, Preeclampsia, Pericardi... ORPHA:163596
Kleefstra Syndrome
Tracheomalacia, Hydronephrosis, Everted lower lip vermilion, Tented upper lip vermilion, Exaggera... ORPHA:261494
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Slender finger, Patent ductus arteriosus, Long toe, Atrial septal defect, Pulmonary arterial hype... OMIM:613355
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Horseshoe kidney, Agenesis of corpus callosum, Patent ductus a... OMIM:218350
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Long philtrum, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th... ORPHA:1106
Mandibuloacral Dysplasia Progeroid Syndrome
Long philtrum, Proteinuria, Sandal gap, Decreased fibular diameter, Intra-oral hyperpigmentation,... OMIM:619127
Matthew-Wood Syndrome
Anophthalmia, Horseshoe kidney, Cryptorchidism, Renal hypoplasia, Abnormality of the uterus, Micr... ORPHA:2470
Mesoaxial Hexadactyly And Cardiac Malformation
Abnormal 3rd finger morphology, Patent ductus arteriosus, Atrial septal defect, Everted lower lip... OMIM:249670
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Dandy-Walker malformation, Polyhydramnios, ... ORPHA:3032
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis, Truncus arteriosus, Stillbirth, Pulmonary hypoplasia OMIM:274210
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Microcephaly, Short stature, Ventricular septal defect, Ventricul... OMIM:614947
Charge Syndrome
Hydronephrosis, Clinodactyly of the 5th finger, Abnormal aortic valve morphology, Abnormal rib mo... ORPHA:138
Cleft Palate, Cardiac Defects, And Mental Retardation
Short 2nd finger, Cleft upper lip, 2-3 toe syndactyly, Cutaneous syndactyly, Atrial septal defect... OMIM:600987
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Marfan Syndrome
Hammertoe, Equinus calcaneus, Protrusio acetabuli, Mitral regurgitation, Emphysema, High palate, ... OMIM:154700
Snakebite Envenomation
Ecchymosis, Stroke, Acute kidney injury, Hypopituitarism, Cardiogenic shock, Gingival bleeding, R... ORPHA:449285
Alpha-Mannosidosis, Infantile Form
Widely spaced teeth, Macroglossia, Recurrent urinary tract infections, Mitral regurgitation, Macr... ORPHA:309282
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Intrauterine g... ORPHA:2990
1Q21.1 Microdeletion Syndrome
Foot polydactyly, Long philtrum, Hydronephrosis, Clinodactyly of the 5th finger, Microcephaly, In... ORPHA:250989
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Reduced ejection... OMIM:619371
Antisynthetase Syndrome
Aortic regurgitation, Myocarditis, Cough, Telangiectasia of the skin, Pulmonary arterial hyperten... ORPHA:81
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Trigonocephaly, Long philtrum, Postaxial polydactyly, Downturned corners of mouth, T... OMIM:613792
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Bronchiectasis, Atelectasis, Lissencephaly, Recurrent respiratory in... OMIM:619466
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Severe short stature, Microcephaly, Epispadias, Mitral regurgitation, ... ORPHA:2556
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Decreased calvarial ossification, Fibular hypoplasia, Esophageal diverticulum, H... OMIM:617925
Khan-Khan-Katsanis Syndrome
Clinodactyly, Colpocephaly, Patent foramen ovale, Patent ductus arteriosus, Intrauterine growth r... OMIM:618460
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Renal cyst, Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, At... OMIM:617478
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Tetralogy of Fallot, Median cleft palate, Agenesis of corpus callosu... OMIM:136760
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Long philtrum, Metaphyseal spurs, Tented upper lip ... ORPHA:96334
Thomas Syndrome
Cleft upper lip, Dolichocephaly, Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypo... ORPHA:3316
Lymphangioleiomyomatosis
Emphysema, Renal angiomyolipoma, Chylothorax, Renal neoplasm, Abnormal urinary color, Gastrointes... ORPHA:538
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Prolonged QT interval, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Caudal Regression Syndrome
Renal agenesis, Ectopic kidney, Abnormality of the ureter, Missing ribs, Abnormality of pelvic gi... ORPHA:3027
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Narrow mouth, Short philtrum, Bifid ureter, Aortic regurgitation, Ureteral duplication, Atrial se... OMIM:601347
Heart And Brain Malformation Syndrome
Prominent occiput, Aplasia/Hypoplasia of the corpus callosum, Global brain atrophy, Everted lower... OMIM:616920
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Hypoplasia of pe... ORPHA:2935
Xk Aprosencephaly Syndrome
Narrow mouth, Atrial septal defect, Anal atresia, Microphthalmia, Microcephaly, Polyhydramnios, V... ORPHA:3469
Teebi-Shaltout Syndrome
Hydronephrosis, High, narrow palate, Microcephaly, Ventricular septal defect, Prominent palatine ... OMIM:272950
Intellectual Developmental Disorder, Autosomal Recessive 73
Single transverse palmar crease, Drooling, Patent ductus arteriosus, Dolichocephaly, Clinodactyly... OMIM:619717
Triploidy
Narrow mouth, Finger syndactyly, Intrauterine growth retardation, Non-midline cleft lip, Aplasia/... ORPHA:3376
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Congestive heart failure, Respiratory insufficiency, Reduced vital capacity, Cardiom... OMIM:618654
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Cerebellar hypoplasia, Dextroc... OMIM:306955
Microphthalmia, Isolated 4
Microphthalmia, Coloboma, Absent testis OMIM:613094
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
High palate, Aortic regurgitation, Atrial septal defect, Hypertrophic cardiomyopathy, Relative ma... OMIM:607721
Femoral-Facial Syndrome
Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Abnormal rib morphology, Polycystic kid... ORPHA:1988
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormal palmar dermatoglyphics, Intrauterine growth retardation, Proteinuria, Atrial septal defe... ORPHA:2728
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Left-to-right shunt, Right bundle branch block, Premature atrial co... ORPHA:99105
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Brachydactyly, Renal cyst, Craniosynostosis, Horseshoe kidney, Intrauterine growth retardation, S... ORPHA:166035
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Intrauterine growth retardation, Hypoplasia of penis, Abnormal ... ORPHA:2772
Congenital Toxoplasmosis
Cerebral calcification, Intrauterine growth retardation, Ascites, Ventriculomegaly, Microphthalmi... ORPHA:858
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral hypoplasia, Abnormal ilium morphology, Long philtrum, Hydronephrosis, Renal dysplasia, B... OMIM:614080
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Agenesis of corpus callosum, Tracheomalacia, Situs inversus totalis, Micr... OMIM:202650
Fanconi Anemia, Complementation Group I
Absent thumb, Colpocephaly, Horseshoe kidney, Patent foramen ovale, Agenesis of corpus callosum, ... OMIM:609053
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Chylothorax, Arteriovenous fistula, High-output congestive heart failure, Congesti... ORPHA:137667
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal agenesis, Toe syndactyly, Ectopic kidney, Horseshoe kidney, Aortic regurgitation, Clinodact... ORPHA:140952
Cornelia De Lange Syndrome 2
Brachydactyly, High palate, Clinodactyly, Intrauterine growth retardation, Hypertrophic cardiomyo... OMIM:300590
Mgat2-Cdg
Brachydactyly, Progressive microcephaly, Arrhythmia, Patent ductus arteriosus, Dolichocephaly, Hy... ORPHA:79329
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Tracheomalacia, Fibular hypoplasia, Clinodactyly of the 5th finger, Multicystic kidn... OMIM:300373
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage, Cerebral calcification OMIM:116860
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly, Intr... OMIM:608779
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Micromelia, Ventricular septal defect, C... ORPHA:1908
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Abnormal aortic morphology, Intrauterine growth retardation, Renal hypoplasia/apl... ORPHA:2516
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Global brain atrophy, Decreased fetal movement, Polycystic kidney dysplasia, Micro... OMIM:608776
Spinal Muscular Atrophy, Type I
Atrial septal defect, Respiratory failure, Decreased fetal movement, Recurrent respiratory infect... OMIM:253300
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Prominent occiput, Patent foramen ovale, Agenesis of corpus callosum, Int... ORPHA:89844
Mucopolysaccharidosis, Type Iiid
Broad alveolar ridges, Recurrent upper respiratory tract infections, Drooling, Broad palm, Thick ... OMIM:252940
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Ectopic kidney, Long philtrum, Atrial septal defect, Intestinal malrotation, Dislo... ORPHA:401935
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Clubbing, Systolic heart murmur, Patent foramen ovale, Congestive heart... ORPHA:439
Roifman Syndrome
Brachydactyly, Eosinophilia, Recurrent pneumonia, Single transverse palmar crease, Intrauterine g... OMIM:616651
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Abnormal cerebral white matter morphology, Leukoencephalopathy, Multifocal hyperintensity... ORPHA:136
Mental Retardation, Buenos Aires Type
High palate, Atrial septal defect, Clinodactyly of the 5th finger, Carious teeth, Microcephaly, P... OMIM:249630
Coffin-Siris Syndrome 5
Short philtrum, Intrauterine growth retardation, Atrial septal defect, Sandal gap, Cerebellar hyp... OMIM:616938
Trisomy 18
Prominent occiput, Abnormal hip bone morphology, Aplasia/Hypoplasia of the corpus callosum, Hydro... ORPHA:3380
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Abnormal left ventricular function, Congestive hear... OMIM:605362
Distal Monosomy 10Q
Clinodactyly, Functional abnormality of the bladder, Cerebellar hypoplasia, Sandal gap, Clinodact... ORPHA:96148
Pierpont Syndrome
Abnormal cortical gyration, Everted lower lip vermilion, Widely spaced teeth, Ventriculomegaly, P... ORPHA:487825
Maternal Uniparental Disomy Of Chromosome X
Agenesis of corpus callosum, Congestive heart failure, Rocker bottom foot, Predominantly lower li... ORPHA:261519
Brain Small Vessel Disease 2
Schizencephaly, Porencephalic cyst, Growth delay, Ventriculomegaly, Polymicrogyria, Intracranial ... OMIM:614483
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Short ribs, Hydrops fetalis, Micromelia, Breech presentation, ... OMIM:600972
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Microcephaly, Ventricular septal defect, Thin corpus callosum, Hypoplasia o... OMIM:614249
Enthesitis-Related Juvenile Idiopathic Arthritis
IgA deposition in the glomerulus, Aortic regurgitation, Limited mobility of proximal interphalang... ORPHA:85438
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormality of the palmar creases, Atrial septal ... OMIM:618652
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Long philtrum, Hydronephrosis, Ventricular septal defect, Mitral regurgitation, Macrocephaly, Gen... ORPHA:363700
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Acromesomelia, Cerebellar hypoplasia, Microcephaly, Hypoplasia of the brainstem, Ventricular sept... ORPHA:500159
Osteogenesis Imperfecta, Type Ii
Wormian bones, Abnormality of pelvic girdle bone morphology, Disproportionate short-limb short st... OMIM:166210
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Upper limb undergrowth, Polyhydramnios, Pulmonary hyp... OMIM:613124
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites,... OMIM:619433
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Hartsfield Syndrome
Craniosynostosis, Intrauterine growth retardation, Non-midline cleft lip, Aplasia/Hypoplasia of t... ORPHA:2117
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Ascites, Bacterial endocarditis, Exertional dyspnea, Di... ORPHA:615
Barth Syndrome
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Endocardial fibroelastosis, Hypertr... OMIM:302060
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Brachydactyly, Small thenar eminence, Hypoplasia of the corpus callosum, Patent foramen ovale, 2-... OMIM:618914
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Atrial septal defect, Postaxial oligodactyly, Sh... ORPHA:52056
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Dextrocardia, ... OMIM:615067
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macrocephaly, Congestive heart failure, Hydrocephalus OMIM:300886
Hydrops Fetalis
Arrhythmia, Nonimmune hydrops fetalis, Abnormality of the kidney, Pleural effusion, Capillary lea... ORPHA:1041
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Macrocephaly, Aortic regurgitation OMIM:614651
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Bronchiolitis, Abnormality of the kidney, Recurrent respiratory infec... OMIM:615993
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperintensity of cerebral white matter on MRI, Hydrops fetalis, Cerebellar hypoplasia, Respirato... ORPHA:88618
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Nuchal cord, High, narrow palate, Short uvula, Microcephaly, Ventricular septal defect, Thin uppe... OMIM:619475
Orofaciodigital Syndrome Xvii
Clinodactyly, Tetralogy of Fallot, Central Y-shaped metacarpal, Prominent metopic ridge, Micropen... OMIM:617926
Prune Belly Syndrome
Abnormal rib morphology, Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventri... ORPHA:2970
Meckel Syndrome, Type 2
Bowing of the long bones, Renal cyst, Intrauterine growth retardation, Anencephaly, Polydactyly, ... OMIM:603194
Neonatal Marfan Syndrome
Emphysema, Hypoxemia, Long toe, Aortic root aneurysm, Dolichocephaly, Abnormal echocardiogram, Ne... ORPHA:284979
Genitopalatocardiac Syndrome
Brachydactyly, Intrauterine growth retardation, Non-midline cleft lip, Multicystic kidney dysplas... ORPHA:2075
Cerebrooculonasal Syndrome
Hydrocephalus, High palate, Anophthalmia, Solitary median maxillary central incisor, Craniosynost... OMIM:605627
Aneurysm Of Sinus Of Valsalva
Oliguria, Aortic regurgitation, Stroke, Congestive heart failure, Bacterial endocarditis, Cough, ... ORPHA:1054
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Bowing of the long bones, Calvarial skull defect, Single umbilical artery, Short lo... OMIM:224410
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebral atrophy, Ureteral stenosis, Nephrocalcinosis, Renal cyst, Long philtrum, Patent ductus a... OMIM:615398
Achondrogenesis Type 2
Pierre-Robin sequence, Delayed proximal femoral epiphyseal ossification, Short ribs, Delayed pubi... ORPHA:93296
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Fetal Trimethadione Syndrome
High palate, Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Midface ... ORPHA:1913
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Congestive heart failure, Respiratory failure, Neonatal death, P... OMIM:301021
Glycogen Storage Disease Iv
Portal hypertension, Hydrops fetalis, Decreased fetal movement, Tubulointerstitial fibrosis, Esop... OMIM:232500
Congenital Rubella Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Abnormality of t... ORPHA:290
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Cerebral berry aneurysm, Subarachnoid hemorrhage, Arterial fi... OMIM:618734
Meckel Syndrome, Type 10
Renal cyst, Occipital encephalocele, Micropenis, Anencephaly, Frontal bossing, Cleft palate, Post... OMIM:614175
Developmental Delay With Or Without Dysmorphic Facies And Autism
Hydronephrosis, Clinodactyly of the 5th finger, Microcephaly, Thin upper lip vermilion, Cleft pal... OMIM:618454
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Stuve-Wiedemann Syndrome 1
Smooth tongue, Short tibia, Bowing of the long bones, Single transverse palmar crease, Metaphysea... OMIM:601559
Syndromic Diarrhea
Tetralogy of Fallot, Aortic regurgitation, Patent ductus arteriosus, Intrauterine growth retardat... ORPHA:84064
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Myocardial fibrosis, Left ventricular noncompac... OMIM:619424
Seckel Syndrome 2
Ectopic kidney, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Microdontia, Growth delay,... OMIM:606744
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Microcephaly, Bicoronal synostosis, Cleft palate, Pierre-Robin sequence, Brachy... OMIM:619184
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Abnormal mitral valve morphology, Abnormal aortic valve mo... ORPHA:740
Acrocardiofacial Syndrome
Foot polydactyly, Mitral stenosis, Ventricular septal defect, Hallux valgus, Cleft palate, Cleft ... ORPHA:2008
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Hydranencephaly, Microcephaly, Short distal phalanx of finger, Ventric... OMIM:601355
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
Chromosome 1P36 Deletion Syndrome, Proximal
Clinodactyly, Microcephaly, Ventricular septal defect, Cleft palate, High palate, Patent foramen ... OMIM:619343
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Renal cyst, Colpocephaly, Pachygyria OMIM:614870
Developmental And Epileptic Encephalopathy 96
Neonatal respiratory distress, Hydrops fetalis, Primary microcephaly OMIM:619340
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Anophthalmia, Missing ribs, Agenesis of corpus callosum, Patent ductus ar... OMIM:206900
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal aortic valve cusp morphology, Congestive heart failure, Patent for... ORPHA:99094
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Congestive heart failure, Severe short stature, Rhizomelia, Sleep apnea, Midface r... OMIM:616482
Myopathy, Myofibrillar, 8
High palate, Restrictive ventilatory defect, Impaired mastication, Joint contracture of the 5th f... OMIM:617258
Oligomeganephronia
Branchial cyst, Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased... ORPHA:2260
Schimke Immuno-Osseous Dysplasia
Proteinuria, Microdontia, Disproportionate short-trunk short stature, Atherosclerosis, Hypertensi... ORPHA:1830
Genitopalatocardiac Syndrome
Renal cyst, Cleft upper lip, Double outlet right ventricle, Right aortic arch, Ventricular septal... OMIM:231060
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Intrauterine growth retardation, Arrhythmia, Congestive heart failure OMIM:616198
Focal Dermal Hypoplasia
Upper limb asymmetry, Open bite, Hydronephrosis, Multicystic kidney dysplasia, Telangiectasia of ... ORPHA:2092
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, High palate, Clinodactyly, Intrauterine growth retardation, Joint contracture of t... OMIM:600325
Congenital Gerbode Defect
Right atrial enlargement, Left-to-right shunt, Crackles, Pedal edema, Ventricular septal defect, ... ORPHA:99095
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Hydrops fetalis, Hy... ORPHA:85166
Beckwith-Wiedemann Syndrome
Prominent occiput, Enlarged kidney, Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Macr... OMIM:130650
Spondylodysplastic Ehlers-Danlos Syndrome
Long philtrum, Agenesis of pineal gland, Prominent scalp veins, Optic nerve hypoplasia, Sagittal ... ORPHA:536471