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Gene: Pcnt MGI:102722

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Pcntem1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Pcntem1(IMPC)Mbp HET Early adult 4.31×10-05
abnormal eye morphology Pcntem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Pcntem1(IMPC)Mbp HET Early adult 0.00
small kidney Pcntem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Pcntem1(IMPC)Mbp HOM   Early adult 0.00
anophthalmia Pcntem1(IMPC)Mbp HET Early adult 0.00
cataract Pcntem1(IMPC)Mbp HET Early adult 7.52×10-05
small testis Pcntem1(IMPC)Mbp HET Early adult 0.00
microphthalmia Pcntem1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Pcntem1(IMPC)Mbp HOM E15.5 0.00
decreased body length Pcntem1(IMPC)Mbp HET Early adult 1.32×10-06
abnormal vitreous body morphology Pcntem1(IMPC)Mbp HET Early adult 7.12×10-05
abnormal testis morphology Pcntem1(IMPC)Mbp HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Gross Morphology Embryo E14.5-E15.5

Images

6 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypoplastic iliac wing, Hypoplasia of the corpus callosum, Atrial septal defect, Patent ductus ar... ORPHA:2637
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Moyamoya phenomenon, Hypoplastic iliac wing... OMIM:210720
Seckel Syndrome
Cone-shaped epiphysis, Sandal gap, Tooth agenesis, Abnormal dental enamel morphology, Intrauterin... ORPHA:808

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Agenesis of corpus c... ORPHA:1692
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Narrow mouth, Mitral regurgitation, Ventricular septal defect, Hydrocephalus, Abn... ORPHA:83473
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Stillbirth, Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly,... ORPHA:294975
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Narrow mouth, Anophthalmia, Agenesis of corpus call... ORPHA:261344
Mosaic Trisomy 9
Elbow dislocation, Endocardial fibroelastosis, Ventricular septal defect, Talipes equinovarus, At... ORPHA:99776
Trisomy 13
Abnormality of the ureter, Anophthalmia, Bilateral single transverse palmar creases, Displacement... ORPHA:3378
19P13.12 Microdeletion Syndrome
Finger syndactyly, Mitral regurgitation, Hypoplasia of the corpus callosum, Ventricular septal de... ORPHA:254346
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, ... OMIM:616897
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Hyperechogenic kidneys, Anophthalmia, Encephalocele, Po... OMIM:613885
Thanatophoric Dysplasia
Abnormal ilium morphology, Ventriculomegaly, Disproportionate short-limb short stature, Micromeli... ORPHA:2655
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the corpus callosum, Stomach cancer, Atrial s... ORPHA:1052
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma OMIM:616428
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Congestive heart failure, Ascites, Gingival overgrowth, Cardiomegaly, Hydroceph... OMIM:269920
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Abnormally large globe, Polymicrogyria, Macrocephaly, Mitral regurgitation, Hyp... OMIM:603387
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Oligohydramnios, Renal insufficiency, ... ORPHA:1909
C Syndrome
Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Thick anterior alveolar ridges, Ventric... OMIM:211750
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Mulibrey Nanism
Pericardial constriction, Recurrent lower respiratory tract infections, Ascites, Nephroblastoma, ... OMIM:253250
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Neonatal death, Holoprosencephaly, ... OMIM:269860
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Tricuspid regurgitation, Oligohydramnios, In... OMIM:619879
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Premature birth, Tetralogy of Fallot, ... ORPHA:3033
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Twelfth rib hypop... ORPHA:397715
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Protruding tongue, Agenesis of corpus callosum, Everted lower lip vermilio... ORPHA:96147
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Occipital encephalocele, Micromelia, Renal dysplasia,... OMIM:241800
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Open mouth, Encephalocele, Irregular dentition, Agenesis of corpus callosum, Tal... OMIM:619148
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Growth delay, Hypoplasia of the brainstem, Agenesis of cerebellar v... OMIM:614424
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Overlapping toe, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ven... ORPHA:508498
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Temtamy Syndrome
Aortic regurgitation, Ventriculomegaly, Dental crowding, Long philtrum, Microphthalmia, Agenesis ... OMIM:218340
Tatton-Brown-Rahman Syndrome
Ventriculomegaly, Everted upper lip vermilion, Fetal distress, Tricuspid regurgitation, Umbilical... OMIM:615879
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ankyloglossia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Bowing of... ORPHA:261330
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial... OMIM:263520
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma OMIM:611638
Peroxisome Biogenesis Disorder 5A (Zellweger)
Mitral regurgitation, Agenesis of corpus callosum, Ventricular septal defect, Talipes equinovarus... OMIM:614866
Congenital Heart Block
Endocardial fibroelastosis, Patent ductus arteriosus, Third degree atrioventricular block, Pleura... ORPHA:60041
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Elbow dislocation, Esophagitis, Anophthalmia, Perineal fistula, Age... ORPHA:2538
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Edema, Congestive heart... ORPHA:90308
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Talipes equinovarus, Microphthalmia, High palate, Holoprosencephaly, T... OMIM:612530
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Cerebral atrophy, Long philtrum, Narrow mouth, Mitral regurgitation, Mitral valv... OMIM:615539
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,... OMIM:602088
Monosomy 18Q
Aortic valve stenosis, Open mouth, Mitral regurgitation, Arachnodactyly, Talipes equinovarus, Hig... ORPHA:1600
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Hurler Syndrome
Urinary glycosaminoglycan excretion, Endocardial fibroelastosis, Mitral regurgitation, Diaphyseal... OMIM:607014
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of toes, Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe syndactyly, Persi... ORPHA:3304
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Unilateral wrist flexion contracture, Ventriculomegaly, Overlapping... OMIM:616531
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Dextrocardia, High palate, Ureteral agenesis, Myelomeningocele, Congenital... ORPHA:2437
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Colonic atresia, Agenesis of corpus callosum, Ventricular septal ... OMIM:309801
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Rhizomelia, Clinodactyly, Abnormal lung lobation, Frontal bossing, Intraute... OMIM:614114
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Clinodactyly, Accessory oral frenulum, Mitral regurgitation, Patent f... ORPHA:88630
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... ORPHA:75566
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Hypoplasia of the corpus ... OMIM:175700
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, Flat acetabular roof, Hig... OMIM:614091
Zttk Syndrome
Small hand, Narrow mouth, Hypoplasia of the corpus callosum, Ventricular septal defect, Breech pr... OMIM:617140
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Narrow mouth, Mitral regurgitation, Bilateral single transverse pal... ORPHA:261349
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Myelopathy, Progressive alveolar ridge... OMIM:252500
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, Broad ribs, Overlapping fingers, Femoral bowing, Intrauterine growt... OMIM:617022
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly, Intrauterine growth retardation, Decreased fetal movement, Agenesis of corpus c... OMIM:616570
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, High, narrow palate, Umbilical hernia, Arachnodactyly, Adducted thumb, Hydr... ORPHA:2181
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Joint contracture of the hand, Postnatal growth retardatio... OMIM:248700
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg... OMIM:620236
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Anophthalmia, Cryptorchidism, Coloboma, Micro... OMIM:610125
15Q Overgrowth Syndrome
Ureterovesical stenosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Ove... ORPHA:314585
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hypoplasia of the corpus callosum, Ventricular se... OMIM:611134
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aplasia/Hypoplasia of the corpus callosum, Protruding tongue, Ventricular septal defect, Talipes ... OMIM:214100
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Anophthalmia, Ventricular septal defect, Neonata... OMIM:615524
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Ventricular hypertrophy, Joint contracture of the hand, Brachyturrice... OMIM:300280
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Second degree atrioventricular block, Ascites, Intrauterine growth re... OMIM:617021
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:220210
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Noonan Syndrome 13
Clinodactyly, Overlapping toe, Mitral regurgitation, Mitral valve prolapse, Atrial septal defect,... OMIM:619087
Fryns Syndrome
Multicystic kidney dysplasia, Agenesis of corpus callosum, Microphthalmia, Anal atresia, High pal... ORPHA:2059
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Intrauterine growth retardation, Trident pelvis, Agene... OMIM:614815
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Postnatal growth ret... ORPHA:3472
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calc... OMIM:620371
Alg3-Cdg
Macroglossia, Hypoplasia of the pons, Cardiomyopathy, Hypoplasia of the corpus callosum, Metaphys... ORPHA:79321
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morphology, Intrauterine growth ... ORPHA:314588
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Ventriculomegaly, Concentric hypertrophic cardiomyopathy, Hype... OMIM:618052
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Microphthalmia, Syndromic 9
Anophthalmia, Ventricular septal defect, Neonatal death, Atrial septal defect, Single ventricle, ... OMIM:601186
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Glutaric aciduria, Lateral ventricle dilatation, Cardiomyopathy, D-2-hydrox... OMIM:600721
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Short thumb, Cleft upper lip, Tetralogy of Fallot, Mitral r... OMIM:612561
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Absence of stomach bubble on fetal sonography, Polyhydramnios, Sho... OMIM:314390
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Hydranencephaly, Hypoplasia of the brainstem, Ureteral agenesis, Oligohydramnio... OMIM:236500
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defect, Hypospadia... OMIM:618316
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hypoplasia of the corpus callosum, Micropenis, Atrial septal defect, Polycystic kidney dysplasia,... OMIM:616546
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Preaxial polydactyly, Crossed fused renal ectopia, Overlapping toe, Ov... OMIM:618142
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Growth delay, Renal ag... ORPHA:2326
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal de... ORPHA:477817
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Mitral regurgitation, Hip contracture, Mitral valve prolapse, Arachnodactyl... OMIM:121050
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Arachnodactyly, Bicuspid aortic valve, Carotid a... ORPHA:91387
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Intrauterine growth retardation, Nonimmune hydrops fetalis, Neonatal death, Pulmo... OMIM:619003
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Carious teeth, Hypoplastic iliac wing, Genu valgum, Mitral regurgitation, D... OMIM:253200
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Sandal gap, Congestive heart failure, Endocardial fibroelastosis, Abn... ORPHA:2022
Distal Deletion 15Q
Multicystic kidney dysplasia, Small hand, Postnatal growth retardation, Genu valgum, Bicuspid aor... ORPHA:1596
Gillessen-Kaesbach-Nishimura Syndrome
Thickened nuchal skin fold, Abnormal lung lobation, Abnormal heart morphology, Oligohydramnios, M... OMIM:263210
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Aortic root aneurysm, Bruising susceptibility, Sandal gap, Dental crowding,... ORPHA:230851
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Natal tooth, Abnormality of th... OMIM:249000
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Narrow mouth, Encephalocele, Talipes equinovarus, Hypoplastic ischia, Hypoplast... ORPHA:1865
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Ventricular ... OMIM:146510
Pseudo-Torch Syndrome 2
Thin ribs, Ventriculomegaly, Secundum atrial septal defect, Lateral ventricle dilatation, Polymic... OMIM:617397
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Thin upper lip vermilion,... OMIM:601927
Thanatophoric Dysplasia, Type I
5-minute APGAR score of 1, Neonatal death, Bowing of the long bones, Breech presentation, Short g... OMIM:187600
Congenital Disorder Of Glycosylation, Type Il
Global brain atrophy, Cerebral atrophy, Frontal bossing, Ascites, Long philtrum, Villous atrophy,... OMIM:608776
Cednik Syndrome
Abnormal corpus callosum morphology, Abnormality of the dentition, Polymicrogyria, Congestive hea... ORPHA:66631
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Carious teeth, Genu valgum, Mitral regurgitation, ... OMIM:253010
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Nephroblastoma, Polydactyly, Ventricular septal defect, Progres... OMIM:602501
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, 11 pairs of ribs, Anophthalmia, Agenesis of corpus callosum, Ventricular septal def... ORPHA:77298
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Aplasia/Hypoplasia o... ORPHA:818
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Encephalocele, Agenesis of corpus callosum, Ventricular septal defect... OMIM:264480
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ... OMIM:314400
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Toe syndactyly, Hypoplasia of the corpus callosum, Ventricular septal defe... ORPHA:464306
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:609054
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Clinodactyly, Subcutaneous hemorrhage, Pulmonary hemorrhage,... OMIM:603585
Turnpenny-Fry Syndrome
Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Hypoplasia of the corpus callosum, Mitra... OMIM:618371
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Mitral regurgitation, Hypoplasia of the corpus callosum, Carpal bon... ORPHA:457395
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Oligohydramnios, Left ventricular ... OMIM:616733
Odontochondrodysplasia 1
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... OMIM:184260
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Postnatal growth retardation, Abnormal mitral valve mor... ORPHA:7
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cerebral cortical atrophy, Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Ves... ORPHA:1166
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Reduced cerebral white matter volume, Hypoplasia of the brainstem, Secondary microcephaly, Hypopl... OMIM:618174
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Encephalocele, Microphthalmia, Flat acetabular roof, Anal atresia, Pate... OMIM:616300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Macrocephaly, Postaxial hand polydactyly, Thick ... OMIM:615938
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... OMIM:235510
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Polyhydramnios, Ventricular ... OMIM:615355
Mosaic Trisomy 16
Short forearm, Clinodactyly, Large placenta, Ventricular septal defect, Single coronary artery or... ORPHA:1708
Congenital Disorder Of Glycosylation, Type Ik
Cerebral atrophy, Cardiomyopathy, Intrauterine growth retardation, Nonimmune hydrops fetalis, Mic... OMIM:608540
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Micromelia, Frontal bossing, Increased nuchal translucency, Polyhydramnios, Enc... ORPHA:93274
Tarp Syndrome
Clinodactyly, Neonatal death, Talipes equinovarus, Atrial septal defect, Bilateral talipes equino... OMIM:311900
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Dilated cardiomyopathy, Long philtrum, Frontal bossing, Wide mouth, Thick vermi... ORPHA:261250
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Clinodactyly, Cerebral atrophy, Renal agenesis, Branchial cys... OMIM:615583
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Aortic aneurysm, Should... ORPHA:98892
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Agenesis of corpu... OMIM:256520
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Secondary microcephaly, Postnatal growth retardation, Ventricular ... OMIM:179613
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Aortic regurgitation, Long philtrum, Irregular acetabular roof, Open bite,... OMIM:619698
22Q11.2 Deletion Syndrome
Carious teeth, Narrow mouth, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Atri... ORPHA:567
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... ORPHA:2302
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Weill-Marchesani Syndrome
Aortic valve stenosis, Short thumb, Mitral regurgitation, Ventricular septal defect, Brachydactyl... ORPHA:3449
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Ventriculomegaly, Congestive heart failure, Open mouth, Periventricular white m... ORPHA:500533
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Ventriculomegaly, Short thumb, Abnormal lung lobation, Tricuspid ... ORPHA:1120
Noonan Syndrome 14
Aortic regurgitation, High, narrow palate, Clinodactyly, Bruising susceptibility, Lateral ventric... OMIM:619745
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Abnormal cerebral w... OMIM:618815
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Hypoplasia of the corpus callosum, Ventricular septal defect, Flexion cont... ORPHA:464311
Tatton-Brown-Rahman Syndrome
Ventriculomegaly, Aortic root aneurysm, Short toe, Widely spaced toes, Umbilical hernia, Tricuspi... ORPHA:404443
Primary Ciliary Dyskinesia
Ventriculomegaly, Atelectasis, Atrial situs ambiguous, Abnormal inferior vena cava morphology, Ab... ORPHA:244
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anophthalmia, Talipes e... OMIM:206920
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Aortic root aneurysm, Abnormal tibia morphology, Genu valgum, Mitral va... ORPHA:666
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Micropenis, Atrial septal defect, Hypospadias, Patent ductus arteriosu... ORPHA:163979
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Lateral ventricle dilatation, Frontal bossing, Ventricular septal defect, Oligodon... OMIM:618330
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Cryptorchidism, Anophthalmia, Microphthalmia, Scle... ORPHA:139471
Tonne-Kalscheuer Syndrome
Broad thumb, Growth delay, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spac... OMIM:300978
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of the urinary system, Polyhydramnios, Microcephaly, Limb undergrowth, Abnormal limb ... ORPHA:2204
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Galactosuria, Bifid uvula, Long philtrum, Frontal bossing, Tetralogy of Fal... OMIM:222470
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Hypoplasia of the corpus callosum, Ventricular septa... OMIM:270400
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Renal agenesis, Non-midline cleft of the upper lip, Tetralogy o... ORPHA:1335
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Martsolf Syndrome 1
Tooth malposition, Talipes equinovarus, Micropenis, Broad fingertip, Microphthalmia, Finger joint... OMIM:212720
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Ventriculomegaly, Global brain atrophy, Secundum atrial septal defect, Cong... OMIM:620066
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Chromosome 6Q24-Q25 Deletion Syndrome
Small hand, Lateral ventricle dilatation, Mitral valve prolapse, Agenesis of corpus callosum, Per... OMIM:612863
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Growth delay, Congestive heart failure, Hypertrophic cardiomyopathy, C... ORPHA:1194
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Emanuel Syndrome
Aortic valve stenosis, Hypoplasia of the corpus callosum, Ventricular septal defect, Delayed erup... OMIM:609029
Holoprosencephaly
Aplasia/Hypoplasia of the corpus callosum, Anophthalmia, Encephalocele, Ventricular septal defect... ORPHA:2162
Mucopolysaccharidosis, Type Vii
Postnatal growth retardation, Urinary glycosaminoglycan excretion, Genu valgum, Talipes equinovar... OMIM:253220
Cardiac Lipidosis, Familial
Microcephaly, Cardiomyopathy, Congestive heart failure OMIM:212080
Williams Syndrome
Carious teeth, Dental malocclusion, Open bite, Genu valgum, Mitral regurgitation, Mitral valve pr... ORPHA:904
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Overlapping fingers, Open mouth, Hypoplasia of the corpus callosum, Ventricular ... OMIM:618494
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Dilatation of the renal pelvis, Lateral ve... OMIM:619534
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Aortic root aneurysm, Postnatal growth retardation, Dysplasia of the femoral head,... ORPHA:536467
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hand clenching, Lateral ventricle dilatation, Overlapping fingers, Hypoplasia of the corpus callo... OMIM:618291
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, Mitral regurgitation, Vent... OMIM:608328
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Postnatal... ORPHA:75249
Achondrogenesis Type 1B
Severe short stature, Disproportionate short stature, Micromelia, Abnormal rib morphology, Thicke... ORPHA:93298
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Cerebellar vermis hypoplasia, Small hand, Widely spaced teeth, Trigonoceph... ORPHA:459061
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Oligohydramnios, Atrial septal defect, Thick corpus callosum, Polyhydramnios OMIM:615476
Trisomy 17P
Aortic valve stenosis, Narrow mouth, High palate, Polycystic kidney dysplasia, Patent ductus arte... ORPHA:261290
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Atriove... OMIM:142900
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Increased nuchal transluce... ORPHA:295
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Postnatal growth retardation, Agenesis of corpus callosum, Micropen... OMIM:257300
Microcephaly-Micromelia Syndrome
Short tibia, Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Humeroradial synostosis, Ne... OMIM:251230
Alg9-Cdg
Ventricular septal defect, Talipes equinovarus, Broad ischia, Atrial septal defect, Cerebral atro... ORPHA:79328
Catel-Manzke Syndrome
Ventriculomegaly, Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Radial d... ORPHA:1388
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation... ORPHA:2631
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus c... OMIM:164180
Charge Syndrome
Postnatal growth retardation, Unilateral microphthalmos, Anophthalmia, Ventricular septal defect,... OMIM:214800
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Tooth malposition, Microspherophakia, Broad phalanges of the hand, Broad r... OMIM:277600
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Agenesis of corpus callosum, Ventricular septal defect,... ORPHA:96170
Helsmoortel-Van Der Aa Syndrome
Small hand, Posterior plagiocephaly, Carious teeth, Lateral ventricle dilatation, Ankyloglossia, ... OMIM:615873
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Aspiration pneumonia, Urinary glycosaminoglycan excretion, Abnorma... ORPHA:79255
Cranioectodermal Dysplasia 2
Clinodactyly, Atrial septal defect, Everted lower lip vermilion, High palate, Patent ductus arter... OMIM:613610
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Toe syndactyly, Overlapping toe, Ventricular septal defect, Talipes equino... OMIM:601808
Hydrolethalus
Bifid uvula, Gingival cleft, Micromelia, Unilateral cleft lip, Polyhydramnios, Absent septum pell... ORPHA:2189
Achondrogenesis Type 1A
Severe short stature, Micromelia, Thickened nuchal skin fold, Umbilical hernia, Long philtrum, Mu... ORPHA:93299
Mycophenolate Mofetil Embryopathy
Tessier cleft, Agenesis of corpus callosum, Ventricular septal defect, Coarctation of aorta, Orof... ORPHA:268249
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ... OMIM:265380
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Oligosacchariduria, Congestiv... ORPHA:423461
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Long philtrum, Tetralogy of Fallot, Hypoplasia of the corpus... OMIM:300887
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Cleft soft palate, Mitral regurgitation, Ventricular septal defect, Arachno... OMIM:615582
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Atelectasis, Camptodactyly of finger, Cutaneous finger syndactyly, Te... ORPHA:896
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Oligohydramnios, Polyhydramnios, Renal dysp... ORPHA:3032
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormal localization of kidney, Tetralogy of Fallot, Renal hypoplasia/aplasia, Missing ribs, Apl... ORPHA:3186
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Open mouth, Long thumb, Ventricular septal defect, Atrial septal defect, Everted lower lip vermil... OMIM:220500
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Long philtrum, Prominent occiput, Horizontal ... OMIM:617895
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ... OMIM:613255
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Small hand, Dilated cardiomyopathy, Short clavicles, Bicuspid aortic valve,... ORPHA:401923
Meier-Gorlin Syndrome 7
Narrow mouth, Aplasia/Hypoplasia of the patella, Urethral stricture, Ventricular septal defect, M... OMIM:617063
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydac... OMIM:620072
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Cerebral calcification, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitat... ORPHA:505248
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Transaldolase Deficiency
Biventricular hypertrophy, Telangiectasia, Coarctation of aorta, Atrial septal defect, Abnormalit... ORPHA:101028
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Hypo... OMIM:617506
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Bruising susceptibility, Mitral regurgitation, Mitral valve prolapse, Calca... OMIM:225320
Bardet-Biedl Syndrome 16
Bronchiolitis, Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly, ... OMIM:615993
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Ventriculomegaly, Dilated cardiomyopathy, Sandal gap, Intrauterine growth re... ORPHA:2515
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
1Q21.1 Microdeletion Syndrome
Toe syndactyly, Broad thumb, Ankyloglossia, Agenesis of corpus callosum, Talipes equinovarus, Mic... ORPHA:250989
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Mitral regurgitation, Oral ulcer, Recurrent lower respiratory tract in... OMIM:612541
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I... OMIM:611880
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... OMIM:614473
Marfan Syndrome
Increased axial length of the globe, Aortic root aneurysm, Open bite, Mitral regurgitation, Mitra... ORPHA:558
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Brachyturricephaly, Frontal bossing, Horseshoe kidney, Hypoplasia of the corpus... OMIM:218350
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mouth, Frontal bossing, Abnormal... ORPHA:93267
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Tricuspid regurgitation, Secondary micro... OMIM:619167
Diabetic Embryopathy
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Abnormal aorti... ORPHA:1926
Walker-Warburg Syndrome
Bifid uvula, Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Microphthalmia, Absent... ORPHA:899
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Small hand, Polymicrogyria, Hypoplasia of the brainstem, Vesicoureteral ref... OMIM:609460
Gm1 Gangliosidosis
Aspiration pneumonia, Cherry red spot of the macula, Narrow mouth, Ventricular septal defect, Pat... ORPHA:354
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Ventriculomegaly, Long philtrum, Pachygyria, Cleft upper lip, Postnatal gr... OMIM:243310
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of... ORPHA:1110
Fontaine Progeroid Syndrome
Narrow mouth, Protruding tongue, Hypoplasia of the corpus callosum, Neonatal death, Bicuspid aort... OMIM:612289
Genitopatellar Syndrome
Hypoplastic ilia, Multicystic kidney dysplasia, Delayed eruption of teeth, Long philtrum, Patella... ORPHA:85201
Fryns Syndrome
Thin ribs, Joint contracture of the hand, Hypoplasia of the optic tract, Agenesis of corpus callo... OMIM:229850
Nanophthalmos
Microphthalmia ORPHA:35612
Mmep Syndrome
Ventricular septal defect, Median cleft upper lip, Microcephaly, Orofacial cleft, Triphalangeal t... ORPHA:3434
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Femoral bowing, Situs... OMIM:615415
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Atrial septal defect, Fin... OMIM:618870
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Abnormality of t... ORPHA:1860
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Intestinal pseudo-obstruction, Ventricular escape rhythm, Mitral regurgitation, B... OMIM:616201
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Growth delay, R... ORPHA:139466
Mucopolysaccharidosis, Type Ii
Severe short stature, Macroglossia, Recurrent pneumonia, Delayed eruption of teeth, Intestinal ps... OMIM:309900
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Open mouth, Mitral regurgitation, Ventricular septal defect, Arachnodactyly... OMIM:301039
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Myopathy, Centronuclear, 5
Bifid uvula, Dilated cardiomyopathy, Narrow mouth, Mitral regurgitation, Hip contracture, High pa... OMIM:615959
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Bifid uvula, Aortic root an... OMIM:208050
Cornelia De Lange Syndrome 2
Small hand, Ventriculomegaly, Clinodactyly, Downturned corners of mouth, Hypertrophic cardiomyopa... OMIM:300590
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Velopharyngeal insufficiency, Thick upper lip vermilion, Overlapping toe, Atrial s... ORPHA:363444
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Shallow acetabular fossae, Cardiomyopathy, Broad ribs, Irregular carpal bon... OMIM:252600
Campomelia, Cumming Type
Multicystic kidney dysplasia, Clubbing of toes, Micromelia, Lymphedema, Oligohydramnios, Bowing o... ORPHA:1318
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Mitral regurgitat... OMIM:143095
Neuraminidase Deficiency
Facial edema, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Cherry red spot o... OMIM:256550
Hamamy Syndrome
Mitral regurgitation, Atrial septal defect, Everted lower lip vermilion, High palate, Syndactyly,... OMIM:611174
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Recurrent pneumonia, Plagiocephaly, Lateral ventricle dilatation, P... OMIM:617751
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Finger syndactyly, Male urethral meatus stenosis, Clinodactyly, Lateral ... ORPHA:464738
Hunter-Macdonald Syndrome
Aortic regurgitation, Epiphyseal dysplasia, Joint contracture of the hand, Umbilical hernia, Mitr... OMIM:611962
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, Agenesis of corpus callosum, High palat... OMIM:311200
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral regurgitatio... OMIM:616564
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Unilateral renal agenesis, Tortuous cerebral arteries, Postnatal growth ret... OMIM:616603
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Cleft upper lip, Oligohydramnios, Renal hyp... ORPHA:3316
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Narrow mouth, Mitral regurgitation, Mitral valve prolapse, Arachnodactyly, Talipes equinovarus, A... OMIM:601776
Even-Plus Syndrome
Epiphyseal dysplasia, Severe short stature, Renal hypoplasia, Recurrent urinary tract infections,... OMIM:616854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Cardiomyopathy, Hypoplasia of the brainst... OMIM:613155
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar... OMIM:228520
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Intrauterine growth retardation, Polyhydramnios, Decreased fetal movem... OMIM:617194
Kagami-Ogata Syndrome
Thin ribs, Premature birth, Long philtrum, Ventricular septal defect, Coxa valga, Pulmonary arter... OMIM:608149
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart failure, End... OMIM:212140
Khan-Khan-Katsanis Syndrome
Clinodactyly, Cerebellar vermis hypoplasia, Tricuspid regurgitation, Patent ductus arteriosus aft... OMIM:618460
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Postnatal growth retardation, Mitral regurgitation, H... ORPHA:576
Congenital Disorder Of Glycosylation, Type If
Ventriculomegaly, Cerebral atrophy, Renal cortical cysts, Microcephaly, Parietal bossing, Thin ve... OMIM:609180
Hypophosphatasia, Infantile
Abnormality of the dentition, Nephrocalcinosis, Metaphyseal cupping, Rachitic rosary, Phosphoetha... OMIM:241500
Periventricular Nodular Heterotopia 1
Clinodactyly, Short finger, Hypoplasia of the corpus callosum, Stroke, Cerebellar hypoplasia, Bic... OMIM:300049
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Toe syndactyly, Renal agenesis, Horseshoe kidney, Mitral atresia, Renal ins... ORPHA:140952
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Short tibia, Finger synda... ORPHA:1106
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Finger syndactyly, Premature birth, Radioulnar synostosis, Microcep... ORPHA:3268
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Small hand, Clinodactyly, Anteriorly placed anus, Agenesis of corpu... OMIM:619980
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Narrow mouth, Agen... OMIM:202650
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Spontaneous pneumothorax, Aortic root aneurysm, Bicuspid aortic valve, Asce... OMIM:619825
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Arachn... OMIM:609008
Cutis Laxa, Autosomal Recessive, Type Iic
Hand clenching, Biventricular hypertrophy, Overlapping toe, Narrow mouth, Mitral valve prolapse, ... OMIM:617402
Prune Belly Syndrome
Multicystic kidney dysplasia, Abnormality of the ureter, Ventricular septal defect, Talipes equin... ORPHA:2970
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Overlapping toe, Renal insuffici... OMIM:617478
Gm1-Gangliosidosis, Type I
Severe short stature, Dilated cardiomyopathy, Abnormality of the urinary system, Cherry red spot ... OMIM:230500
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate excretion i... OMIM:607015
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Bicuspid aortic valve, Atrial septal defect, Microphthalmia, High p... OMIM:612474
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventricular septal defect, Atrial... OMIM:616449
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphtha... ORPHA:363741
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal... OMIM:620609
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Left superior vena c... OMIM:306955
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat... ORPHA:70589
Cardiospondylocarpofacial Syndrome
Severe short stature, High, narrow palate, Tooth malposition, Synostosis of carpal bones, Failure... ORPHA:3238
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Single ventricle, 2-5 finger syndactyly, Aplasia/Hypopla... OMIM:308050
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Overlapping fingers, Hypoplasia of the corpus callosum, Agenesis of c... OMIM:301056
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Ureteral stenosis, Patellar ... ORPHA:2257
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy, Postnatal growth retardation, Intrauterine... OMIM:615440
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Long philtrum, Thick lower lip vermilion, Tricuspid regurgitation, Mitral r... ORPHA:555877
Fabry Disease
Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Nephrotic syndrome, Lymphedema, Hypertr... ORPHA:324
Tetrasomy 5P
Long philtrum, Congestive heart failure, Postnatal growth retardation, Overlapping toe, Clinodact... ORPHA:3309
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Polycystic ovaries, Pulmonary edema, Agenesis of corpus callosum,... ORPHA:137675
Achondrogenesis
Severe short stature, Micromelia, Thickened nuchal skin fold, Umbilical hernia, Long philtrum, Ap... ORPHA:932
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Genu valgum, Claw hand deformity, Flared iliac wing,... OMIM:252605
Meconium Aspiration Syndrome
Premature rupture of membranes, Meconium stained amniotic fluid, Atelectasis, Aspiration pneumoni... ORPHA:70588
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Polydactyly OMIM:615987
Mitral Valve Prolapse 1
High, narrow palate, High palate, Mitral regurgitation, Mitral valve prolapse OMIM:157700
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly,... OMIM:615996
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Narrow mouth, Mitral regurgitation, Joint contracture of the 5th finger, At... ORPHA:363611
Kleefstra Syndrome
Agenesis of corpus callosum, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Talipe... ORPHA:261494
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Agenesis of corpus callosum, Arrhythmia, High palate, Polycystic kidney dysplasia, Renal dysplasi... OMIM:608836
Marfan Syndrome
Increased axial length of the globe, Aortic root aneurysm, Mitral regurgitation, Mitral valve pro... OMIM:154700
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Shprintzen-Goldberg Syndrome
High, narrow palate, Ventriculomegaly, Elbow dislocation, Camptodactyly of finger, Umbilical hern... ORPHA:2462
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Anophthalmia, Hypoplasia of the corpus callosum, Contractu... OMIM:300166
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger... OMIM:136760
Hydrops Fetalis
Generalized edema, Abnormality of the urinary system, Increased placental thickness, Lymphedema, ... ORPHA:1041
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Plagiocephaly, Intrauterine growth retardation, Vesi... ORPHA:85284
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Dilatation of the renal pelvis, Short 5th toe, Cleft soft palate, Hypoplas... ORPHA:268261
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p... ORPHA:2935
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Upper limb undergrowth, Nonimmune hydrops fetalis, Polyhydramnios, Hydrops fetalis, Pulmonary hyp... OMIM:613124
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Everted lower lip vermilion, S... OMIM:249670
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Bilateral single transverse palmar creases, Abnormal mitral val... ORPHA:3310
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Small hand, Aortic root aneurysm, Natal tooth, Long philtrum, Dental cr... OMIM:145420
Glycogen Storage Disease Iv
Cardiomyopathy, Ascites, Portal hypertension, Decreased fetal movement, Talipes equinovarus, Esop... OMIM:232500
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Pulmonary hypoplasia, Patent foramen ovale, Decreased fetal movement,... OMIM:616867
Mucopolysaccharidosis Type 1
Abnormal epiphysis morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal he... ORPHA:579
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Umbilical hernia... OMIM:219100
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Frontal bossing, Dilated fourth... OMIM:614175
Meckel Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Aplasia/Hypoplasia of the corpus callos... ORPHA:564
Achondrogenesis, Type Ii
Abnormally large globe, Disproportionate short-limb short stature, Long philtrum, Broad long bone... OMIM:200610
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Neonatal death, Renal cyst, Colpocephaly, Pachygyria OMIM:614870
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Lateral ventricle dilatation, Elbow disloca... OMIM:210710
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Long philtrum, Camptodactyly of finger, Umbilical hernia, Intrauterine growth ... ORPHA:2990
Tarp Syndrome
Finger syndactyly, Clinodactyly, Talipes equinovarus, Atrial septal defect, Pierre-Robin sequence... ORPHA:2886
Microphthalmia, Isolated 8
Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, Microphthalmia, Optic nerv... OMIM:615113
Diaphanospondylodysostosis
Polymicrogyria, Horseshoe kidney, Nephrogenic rest, Nephroblastomatosis, Intrauterine growth reta... OMIM:608022
Cerebrooculonasal Syndrome
Postnatal growth retardation, Anophthalmia, Hypoplasia of the corpus callosum, Encephalocele, Hig... OMIM:605627
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Postnatal growth retardation, Genu valgum, Narrow mouth, Ventr... OMIM:616145
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Wrist swelling, Short femoral neck, Camptodactyly of finger, Ascites... ORPHA:2848
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Ventricular septal defect, Cerebral white matter atrophy, 2-3 finge... ORPHA:435638
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Cerebral berry aneurysm, Mitral regurgitation, Mitral v... OMIM:173900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation, Secondary microcephaly, Narrow mouth, Hip contracture, Hypoplasia o... OMIM:300868
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Ventricular septal defect, Atrial s... OMIM:620663
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Overlapping toe, Anal atresia, High palate, Flat occiput, Downturne... OMIM:613792
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Dental crowding, Internally rotated shoulders, Elbow flexion contracture, Hip contracture, Decrea... OMIM:617468
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Thin vermilion border, Pr... OMIM:602342
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Hypoplasia of the corpus callosum, Ventricular septal defect... OMIM:614576
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Chylothorax, Arteriovenous malformation, Abnormal bleeding, Congestive heart failure, ... ORPHA:137667
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Open mouth, Atrial septal defect, Anal atresia, High palate, Renal dys... OMIM:614080
Vacterl/Vater Association
Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Aplasia/Hypoplasia of t... ORPHA:887
Alpha-Mannosidosis, Infantile Form
Genu valgum, Mitral regurgitation, Bilateral coxa valga, Bilateral talipes equinovarus, Hypoplast... ORPHA:309282
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Sandal gap, Lateral ventricle dilatation, Umbilical hernia, Joint contracture o... OMIM:618914
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Perica... ORPHA:163596
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Neonatal death, Microphthalmia, Anal atresia, Cleft lip, Tetralogy of F... OMIM:617925
Chondrodysplasia, Blomstrand Type
Fetal ascites, Micromelia, Flared metaphysis, Advanced tarsal ossification, Short ribs, Preductal... OMIM:215045
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchioli... ORPHA:90348
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Secondary microcephaly, Ventricular septal defect, Cerebellar hypoplasia, Neona... OMIM:613730
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Mitral regurgitation, Scapular winging OMIM:612954
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Intrauterine growth retardation, Bradycardia, ... OMIM:619048
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Bilateral single transv... OMIM:216340
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Secondary microcephaly, Postnatal growth retardation, Short midd... OMIM:614326
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Ascites, Pulmonary insufficiency, Hydrops fe... OMIM:619433
Raine Syndrome
Natal tooth, Long hallux, Cerebral calcification, Narrow mouth, Protruding tongue, Neonatal death... OMIM:259775
Adams-Oliver Syndrome
Arteriovenous malformation, Finger syndactyly, Encephalocele, Abnormal metacarpal morphology, Mic... ORPHA:974
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Patent d... ORPHA:980
Aspergillosis
Pneumonia, Ground-glass opacification, Pleural effusion, Parenchymal consolidation, Abnormal long... ORPHA:1163
Cutis Laxa, Autosomal Recessive, Type Ic
Breech presentation, Periorbital edema, Rectal prolapse, Multiple bladder diverticula, Ascites, V... OMIM:613177
ERI1-related disease
Velopharyngeal insufficiency, Ventricular septal defect, Finger joint hypermobility, Dislocated r... OMIM:608739
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Short 5th finger, Acromesomelia, Recurrent pneumonia, Plagiocephaly, Ventriculomegaly, Polymicrog... ORPHA:500159
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Renal dysplasia, Wide mouth, Mitral stenosis, Hypoplasia of the corpus callosum... OMIM:617260
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Premature birth, Cardiomyopathy, Congestive heart failure, Oligohy... OMIM:616866
Intellectual Developmental Disorder, Autosomal Recessive 73
Widely spaced teeth, Thick upper lip vermilion, Decreased fetal movement, Single transverse palma... OMIM:619717
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Short 1st metacarpal, Absent thumb, Short thumb, Horseshoe kidney, Intrauterine... OMIM:609053
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Cleft upper lip, Short finger, Hypoplastic heart, Intrauterine growth retardation, Fet... OMIM:312150
Congenital Toxoplasmosis
Ventriculomegaly, Ascites, Cerebral calcification, Intrauterine growth retardation, Cardiomegaly,... ORPHA:858
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebral cortical atrophy, Tooth malposition, Growth delay, Clinodactyly, Pachygyria, Tricuspid r... OMIM:619576
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Clinodactyly, IgA deposition in the glomerulus, Ventricular se... OMIM:618348
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Camptodactyly of finger, Congestive heart failure, Agenesis ... ORPHA:261519
Congenital Sialidosis Type 2
Cherry red spot of the macula, Abnormal EKG, Abnormal heart morphology, Ascites, Umbilical hernia... ORPHA:93400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral calcification, Abnormal basal ganglia morphology, Hip contracture, Abnormal renal cortex... ORPHA:464321
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Open bite, Ventricular septal de... ORPHA:2092
Fg Syndrome Type 1
Finger syndactyly, Clinodactyly of the 2nd finger, Aplasia/Hypoplasia of the corpus callosum, Ope... ORPHA:93932
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Lymphed... ORPHA:538
Hadziselimovic Syndrome
Ventricular hypertrophy, Renal hypoplasia, Thick lower lip vermilion, Tetralogy of Fallot, Hypopl... OMIM:612946
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Genitopalatocardiac Syndrome
Cleft upper lip, Right aortic arch, Ventricular septal defect, Renal cyst, Double outlet right ve... OMIM:231060
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the urethra, Finger syndactyly, Abnormal rib morphology, Micromelia, Intrauterine ... ORPHA:2145
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Hypogonadism, Cryptorchidism, Microphthalmia OMIM:601794
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Cerebral atrophy, Abnormal heart morphology, Renal insufficiency, Glossitis, Hydrops ... ORPHA:79282
Charge Syndrome
Abnormal tibia morphology, Postnatal growth retardation, Narrow mouth, Anophthalmia, Microphthalm... ORPHA:138
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral r... ORPHA:2470
Sandestig-Stefanova Syndrome
Ventriculomegaly, Clinodactyly, Muscular ventricular septal defect, Trigonocephaly, Intrauterine ... OMIM:618804
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Ventricular septal defect, Jejunal atresia, Microcephaly, Brachydact... ORPHA:391646
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Recurrent respirator... OMIM:619466
Ogden Syndrome
Everted upper lip vermilion, Torsade de pointes, Postnatal growth retardation, Thick upper lip ve... OMIM:300855
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Coloboma, Microphthalm... OMIM:615877
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Mitral regurgitation, Ventri... OMIM:271640
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Vascular dilatation, Im... OMIM:600884
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Decreased fibular diameter, Postnatal growth retardation, Dysplasia of the femoral hea... OMIM:619127
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macrocephaly, Hydrocephalus, Congestive heart failure OMIM:300886
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Congenital Syphilis
Pneumonia, Frontal bossing, Intrauterine growth retardation, Large placenta, Petechiae, Tibial bo... ORPHA:499009
Sandhoff Disease
Cherry red spot of the macula, Macrocephaly, Recurrent respiratory infections, Congestive heart f... ORPHA:796
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... ORPHA:2260
Teebi-Shaltout Syndrome
Aortic valve stenosis, Caudal appendage, Narrow mouth, Ventricular septal defect, Talipes equinov... OMIM:272950
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Clinodactyly, Lateral ventricle dilatation, Postnatal grow... ORPHA:96148
Cerebrooculonasal Syndrome
Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max... ORPHA:66625
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Jacobsen Syndrome
Aortic valve stenosis, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hall... ORPHA:2308