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Gene: Cir1 MGI:1914185

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Gene Summary

Name:
corepressor interacting with RBPJ, 1
Synonyms:
2810021A19Rik,  CIR,  1700023B02Rik

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
increased grip strength Cir1tm3a(KOMP)Wtsi HET Early adult 1.04×10-06
preweaning lethality, complete penetrance Cir1tm3a(KOMP)Wtsi HOM   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 Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

14 Images

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DSS Histology

Images

8 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Cir1tm3a(KOMP)Wtsi
WT, Male, WTSI
Cir1tm3a(KOMP)Wtsi
WT, Male, WTSI
Cir1tm3a(KOMP)Wtsi
WT, Male, WTSI
Cir1tm3a(KOMP)Wtsi
WT, Male, WTSI
Cir1tm3a(KOMP)Wtsi
WT, Female, WTSI

View all 138 images

Cir1tm3a(KOMP)Wtsi
HOM, Male, WTSI
Cir1tm3a(KOMP)Wtsi
HOM, Male, WTSI
Cir1tm3a(KOMP)Wtsi
HOM, Male, WTSI
Cir1tm3a(KOMP)Wtsi
HOM, Male, WTSI

Human diseases caused by Cir1 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.

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

The table below shows human diseases predicted to be associated to Cir1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasi... ORPHA:2345
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi... OMIM:613686
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Hypospadias, Camptodacty... ORPHA:2311
Poland Syndrome
Unilateral absence of pectoralis major muscle, Dextrocardia, Unilateral hypoplasia of pectoralis ... OMIM:173800
Prune Belly Syndrome
Congenital hip dislocation, Vertebral segmentation defect, Atrial septal defect, Vesicoureteral r... ORPHA:2970
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig... OMIM:618845
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Stiff neck, Cardiom... OMIM:617022
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P... OMIM:213980
Basal Cell Nevus Syndrome 1
Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Hamartom... OMIM:109400
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Accelerated skeletal maturation, Kyphosis, Abnor... ORPHA:1354
Cerebrofaciothoracic Dysplasia
Polyhydramnios, Short neck, Abnormal hair pattern, Synophrys, Hemivertebrae, Rib fusion, Cleft pa... ORPHA:1394
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Hyperlordosis, Short neck, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... ORPHA:666
Femoral-Facial Syndrome
Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal sacrum morphology, Long pen... ORPHA:1988
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Multiple pterygia, Abnormal sternum morphology, Ver... ORPHA:2990
Becker Nevus Syndrome
Supernumerary nipple, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary rib... ORPHA:64755
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxity, Coloboma, Abnorm... ORPHA:508498
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Osteopenia, Pectus excavatum, Delayed skeletal maturation, Synophrys, Prominent... OMIM:617877
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Aicardi Syndrome
Intestinal polyposis, Block vertebrae, Hepatoblastoma, Missing ribs, Precocious puberty, Hiatus h... ORPHA:50
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Stiff neck, Urinary incontinence, Myelopathy, ... ORPHA:268882
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin... OMIM:610168
Alagille Syndrome
Ventricular septal defect, Butterfly vertebral arch, Renal hypoplasia/aplasia, Cryptorchidism, De... ORPHA:52
Myhre Syndrome
Short neck, Sparse hair, Atrial septal defect, Broad ribs, Vertebral fusion, Pericardial effusion... OMIM:139210
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Osteopenia, Bicuspid aortic valve, Premature thelarche, Osteolysis involving bones o... ORPHA:371428
1P36 Deletion Syndrome
Hypoplasia of penis, Renal cyst, Gastroesophageal reflux, Hypothyroidism, Generalized hirsutism, ... ORPHA:1606
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Synophrys, Pectus... ORPHA:3268
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplas... OMIM:206900
Verheij Syndrome
Branchial cyst, Vertebral fusion, Joint laxity, Ventricular septal defect, Renal agenesis, Optic ... OMIM:615583
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Posterior rib fusion, Atrial septa... OMIM:265380
Congenital Disorder Of Glycosylation, Type Ih
Edema, Short neck, Cryptorchidism, Patent ductus arteriosus, Perimembranous ventricular septal de... OMIM:608104
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Aicardi Syndrome
Block vertebrae, Spina bifida, Missing ribs, Precocious puberty, Hiatus hernia, Optic disc colobo... OMIM:304050
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasi... OMIM:600001
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... OMIM:265000
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Joint laxity, Decreased number of peripheral myelinated nerve fibers, Overriding aorta, Bicuspid ... ORPHA:477817
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Abnormal ste... OMIM:609192
Diaphanospondylodysostosis
Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Enlarged thorax, Multiple... ORPHA:66637
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Congenital diaphragmatic hernia, Py... ORPHA:261197
Dental Anomalies And Short Stature
Delayed skeletal maturation, Mitral valve prolapse, Platyspondyly, Herniation of intervertebral n... OMIM:601216
Charge Syndrome
Decreased response to growth hormone stimulation test, Polyhydramnios, Secundum atrial septal def... OMIM:214800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte... OMIM:618395
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Synophrys, High palate, Gastroesophageal reflux, Atrial se... OMIM:607872
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Renal insufficiency, Thoracic scoliosis, Hypospadias, Kyphoscoliosis, Short neck, Hem... OMIM:611209
Snijders Blok-Campeau Syndrome
Joint laxity, Perimembranous ventricular septal defect, High palate, Scoliosis, Pulmonic stenosis... OMIM:618205
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali... OMIM:601927
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricus... ORPHA:1507
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Frontal hirsutism, Cryptorchidism, Patent ductus arteriosus, High palate, Pulmo... ORPHA:3304
Cartilage-Hair Hypoplasia
Sparse facial hair, Narrow chest, Sparse hair, Joint laxity, Lumbar hyperlordosis, Sparse eyebrow... OMIM:250250
Robinow Syndrome
Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, Fused thoracic vertebrae, Multicys... ORPHA:97360
Williams Syndrome
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Ca... ORPHA:904
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Ventricular septal defect, Short neck, Precocious puberty, Cryptorchidism, Scol... OMIM:620073
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Bifid uvula, Synostosi... OMIM:101200
Lateral Meningocele Syndrome
Decreased muscle mass, Bicuspid aortic valve, Short neck, Coarse hair, High palate, Vertebral fus... OMIM:130720
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Abnormal hair pattern, Short neck, Cryptor... ORPHA:2332
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Missing r... OMIM:220210
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Short neck, Anorectal anomaly, Renal cyst, Abnormal form of the ... ORPHA:1834
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Trisomy 13
Ventricular septal defect, Abnormal eyelash morphology, Cryptorchidism, Kyphosis, High, narrow pa... ORPHA:3378
Peters Plus Syndrome
Ureteral duplication, Polyhydramnios, Short neck, Bicuspid pulmonary valve, Abnormal pulmonary ve... ORPHA:709
Catel-Manzke Syndrome
Joint dislocation, Joint laxity, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... OMIM:616145
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Edema, Polyh... OMIM:312150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal rib morphology, Coarctation of aorta, Anteriorly placed anus, Dyspha... ORPHA:280195
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Short neck, Cleft palate, Low posterior hairline, Fused cervical verte... OMIM:214300
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Wide an... OMIM:113000
Koolen-De Vries Syndrome
Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Vertebral segmentation defect, ... ORPHA:96169
Sandestig-Stefanova Syndrome
Prominent metopic ridge, Laterally extended eyebrow, Highly arched eyebrow, Short neck, Muscular ... OMIM:618804
Femoral-Facial Syndrome
Maternal diabetes, Limited elbow movement, Hemivertebrae, Sprengel anomaly, Gastroesophageal refl... OMIM:134780
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Edema, Polyh... OMIM:253290
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Perimembrano... OMIM:611376
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Laterally extended eyebrow, Ventricular septal defect, Highly arched eyebrow, Secundum atrial sep... OMIM:600987
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Gastroesophageal reflux, Atrial septal defect, Vesicoureteral re... OMIM:157800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... OMIM:178110
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Curly hair, Increased bone mineral density, Wide anterior fontanel, Vertebral arch an... ORPHA:85184
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Bell... OMIM:602557
Koolen-De Vries Syndrome
Bicuspid aortic valve, High palate, Atrial septal defect, Vesicoureteral reflux, Vertebral fusion... OMIM:610443
Humero-Radio-Ulnar Synostosis
Radioulnar synostosis, Abnormality of the ureter, Elbow ankylosis, Abnormality of the upper urina... ORPHA:3266
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Ventricular septal defect, Kyphoscoliosis, Protruding tongue, Crypto... OMIM:301040
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Maternal diabet... ORPHA:3027
Rubinstein-Taybi Syndrome 1
Premature thelarche, Polyhydramnios, Bilateral cryptorchidism, High, narrow palate, Flexion contr... OMIM:180849
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Exaggerated median tongue furrow... ORPHA:313892
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Missing ribs, Renal hypoplasia/aplasia, Abnormal localizati... ORPHA:3186
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Abnormality of the kidney, Unilateral renal agenesis, Short neck... OMIM:118100
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Atrial septal defect, Abn... ORPHA:280
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Abnormal thorax morphology, Abnormal heart morphology, Scoliosis, Thora... ORPHA:1445
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Nephrocalcinosis, Thoracic hemivertebrae, Micropenis, Dislocated radia... OMIM:268310
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Recurrent fractures, Bone pain, Papillary renal cell carcinoma, Pap... ORPHA:319487
Alagille Syndrome 1
Duplicated collecting system, Atrial septal defect, Ventricular septal defect, Butterfly vertebra... OMIM:118450
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti... ORPHA:93352
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures, Goiter, Abnormal neck blood vessel morphology, Papillary renal cell carcinom... ORPHA:97290
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Hypospadias, Highly arched eyebrow, Short neck, High, narrow palate, P... OMIM:158170
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Optic disc pallor, Cardiomegaly OMIM:619170
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc... OMIM:618000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Pectus excavatum, Kyphosis, Short neck,... ORPHA:2522
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Abnorm... ORPHA:1926
Mucolipidosis Ii Alpha/Beta
Osteopenia, Brittle hair, Cardiomegaly, Sparse hair, Thoracolumbar kyphoscoliosis, Sparse eyebrow... OMIM:252500
Zttk Syndrome
Flexion contracture, Hemivertebrae, High palate, Atrial septal defect, Bifid uvula, Absent gallbl... OMIM:617140
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
3C Syndrome
Hypoplasia of penis, Adrenal hypoplasia, Short neck, High, narrow palate, Hemivertebrae, Abnormal... ORPHA:7
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Increased density of l... OMIM:305620
Alkaptonuria
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Coronary artery calcifi... OMIM:203500
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Pectus excavatum, Kyphosis, Thyroiditis, Furrowed tongue, H... OMIM:615108
Maffucci Syndrome
Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary... ORPHA:163634
Holt-Oram Syndrome
Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Joint stiffness,... ORPHA:392
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fa... ORPHA:95716
Chromosome 18Q Deletion Syndrome
Joint laxity, Hypospadias, Decreased response to growth hormone stimulation test, Absence of the ... OMIM:601808
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis, Limited elbow extension, Genu varum OMIM:146000
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... OMIM:300855
Pontine Tegmental Cap Dysplasia
Facial palsy, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Dysphagia OMIM:614688
Lower Limb Malformation-Hypospadias Syndrome
Sacral dimple, Abnormality of the ureter, Hypospadias, Short neck ORPHA:2487
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra... OMIM:607155
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteri... OMIM:306955
Pallister-Hall Syndrome
Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Hemivertebrae, Atrial septal defect,... ORPHA:672
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Sacral dimple, Dilation of Virchow-Robin spaces, Alopecia, Sparse eyelashes, Poly... ORPHA:544488
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Monosomy 18Q
Absence of the pulmonary valve, Joint hypermobility, Kyphoscoliosis, Bilateral cryptorchidism, Le... ORPHA:1600
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Larsen Syndrome
Cervical kyphosis, Pectus carinatum, Knee dislocation, Atrial septal defect, Spina bifida occulta... OMIM:150250
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Pectus excavatum, Kyphosis, Thyroiditis, Furrowed tongue, H... OMIM:615109
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Renal insufficiency, Wormian bones, Hypogonadotropic hypogonadism, Ventricu... OMIM:617159
Kbg Syndrome
Vertebral fusion, Short neck, Cryptorchidism, Epispadias, Delayed skeletal maturation, Rib fusion... OMIM:148050
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Low poster... OMIM:179613
Congenital Gerbode Defect
Ventricular septal defect, Ankle swelling, Right atrial enlargement, Pedal edema, Perimembranous ... ORPHA:99095
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Myelomeningocele, Hypoplasti... ORPHA:2876
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Joint laxity, Congenital hip dislocation, Large joint dislocations, Delayed phalangeal epiphyseal... OMIM:603546
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology, Genu varum ORPHA:1110
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Joint laxity, Aganglionic megacolon, Hyperlordosis, Pectus excavatum, Kyphos... OMIM:162300
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Abnormal rib morphology, Abno... ORPHA:2790
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Delayed epiphyseal ossification, Flexion contracture, Renal cyst, Knee flexion contra... OMIM:210710
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Patent ductus arteriosus, A... ORPHA:1120
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Cleft ... OMIM:309801
Achondroplasia
Lumbar hyperlordosis, Limited hip extension, Polyhydramnios, Generalized joint laxity, Lumbar kyp... OMIM:100800
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis, Pectus excavatum, Esophageal atresia, Muscular ventric... OMIM:619227
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Duane-Radial Ray Syndrome
Shoulder dislocation, Atrial septal defect, Vesicoureteral reflux, Upper limb muscle hypoplasia, ... OMIM:607323
Dextrocardia
Meckel diverticulum, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inve... ORPHA:1666
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Cryptorchidism, Cleft pal... ORPHA:915
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Accelerated skeletal maturation, Cryptorchidism, Elevated circulating ... OMIM:101800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Biliary hyperplasia, Cryptorchidism, Contracture of the distal interphalangeal jo... ORPHA:83617
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Pectus excavatum, Kyphosis, Thyroiditis, Furrowed tongue, H... OMIM:158350
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... OMIM:613702
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal r... ORPHA:1703
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter OMIM:617577
Fg Syndrome Type 1
Generalized joint laxity, Abnormal sternum morphology, High palate, Gastroesophageal reflux, Atri... ORPHA:93932
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Abnormality of the kidney, C... ORPHA:1724
Benign Schwannoma
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth... ORPHA:252164
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Cleft palate, Scoliosis, Dysplastic pulmonary valve, Bifid uvula OMIM:300958
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Polyhydramnios, Low posterior hairline ORPHA:1450
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Otopalatodigital Syndrome Type 2
Encephalocele, Increased bone mineral density, Hypospadias, Abnormal heart valve morphology, Tars... ORPHA:90652
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Optic atrophy, Pseudobulba... OMIM:618651
Metatropic Dysplasia
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... OMIM:156530
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Short neck, Abnormality of the thyroid gland, Abnormal rib morphology, Hemiv... ORPHA:2234
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, Ab... ORPHA:485
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Pectus carinatum, Reduced bone mineral density, High palate, Abnormal bone ossificati... ORPHA:93315
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Delayed skeletal maturat... OMIM:271510
Trisomy 20P
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced bone mineral de... ORPHA:261318
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Abnormal form of the vertebral bodies, Gastroesophageal reflux, Atrial sep... OMIM:194190
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs... ORPHA:1488
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Neurogenic bladder, Protruding tongue, Secundum atrial septal defect, Sh... OMIM:608779
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Recurrent urinary tract infections, Short neck, Cleft pal... OMIM:244600
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cardiofaciocutaneous Syndrome 4
Joint laxity, Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone ... OMIM:615280
Emanuel Syndrome
Congenital hip dislocation, Multiple joint contractures, Congenital diaphragmatic hernia, High pa... ORPHA:96170
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc... OMIM:218600
Noonan Syndrome 2
Polyhydramnios, Short neck, Pectus carinatum, Abnormal sternum morphology, High palate, Atrial se... OMIM:605275
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... ORPHA:373
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... ORPHA:1801
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Polyhydramnios, Beaded ribs, Cardiomegaly, Short neck, Multiple prenatal fractures, F... OMIM:616897
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Genu valgum, Joint hyperflexibility, High palate, Atrial septal defect... ORPHA:1035
Emanuel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux... OMIM:609029
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Genu recurvatum, Situs inversus totalis, Kyphosis, Mitra... OMIM:609008
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Abnormality of the knee, Short neck, Kyphosis, Wide anterior fontanel, Ab... ORPHA:3098
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Low posterior hairline, Cardiomyopathy,... OMIM:616549
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastrointestinal dysmotility, Hemivertebrae, Gastroesophageal reflux, Atrial septal defect, Bifid... ORPHA:500150
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... ORPHA:95715
Mucopolysaccharidosis, Type Iva
Short neck, Pectus carinatum, Flaring of rib cage, Anterior beaking of lumbar vertebrae, Chondroi... OMIM:253000
Vacterl/Vater Association
Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Congenital... ORPHA:887
Noonan Syndrome 4
Ureteral duplication, Pectus excavatum of inferior sternum, Curly hair, Ventricular septal defect... OMIM:610733
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Abnormality of the upper urinary tract, Elbow ... ORPHA:2916
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Ventricular septal defect, Short neck, Abnormal rib morphology, Pla... ORPHA:93267
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:609053
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Atrial septal defect, Hypospadias, ... ORPHA:209905
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Polyhydramnios, Short neck, Low anterior hairline, Pectus carinatum, Hig... ORPHA:800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Short neck, Synophrys, High palate, Atrial septal defect, Bifid uvula, Joi... OMIM:612474
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Short neck, Abnormal rib morphology, Low posterior hairline, Vert... ORPHA:2578
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Type II diabetes mellitus, Scoliosis, Thora... ORPHA:1436
Mccune-Albright Syndrome
Accelerated skeletal maturation, Bone pain, Gastroesophageal reflux, Benign gastrointestinal trac... ORPHA:562
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Lateral clavicle... OMIM:274000
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Thyroid hypoplasia, Alopecia, Hypoplastic scapulae, Congenital hip dislocation, Unilateral renal ... OMIM:308050
Carpenter Syndrome 1
Short neck, High palate, Atrial septal defect, Spina bifida occulta, Genu varum, Sagittal cranios... OMIM:201000
White Forelock With Malformations
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, White forelock, Atr... ORPHA:2475
Cardiofaciocutaneous Syndrome 3
Curly hair, Ventricular septal defect, Short neck, Pectus excavatum, Reduced bone mineral density... OMIM:615279
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Aplasia/Hypoplasia of the patella, Hip dislocation, Horseshoe kidney, ... ORPHA:3320
Alstrom Syndrome
Renal insufficiency, Alopecia, Hypergonadotropic hypogonadism, Decreased response to growth hormo... OMIM:203800
Gorlin Syndrome
Vertebral fusion, Hypogonadotropic hypogonadism, Cryptorchidism, Hemivertebrae, Vertebral wedging... ORPHA:377
Noonan Syndrome 10
Curly hair, Ventricular septal defect, Short neck, Pectus excavatum, Cryptorchidism, Patent ductu... OMIM:616564
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Ectopic kidney, Pectus excavatum, Hemivertebrae, Renal hypoplasia, Radioulnar syn... OMIM:212780
Noonan Syndrome 7
Curly hair, Joint hypermobility, Short neck, Pectus excavatum, Dysphagia, Pectus carinatum, Shiel... OMIM:613706
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine, Synophrys, Ovoid thoracolumb... OMIM:252900
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Scapular winging, Hypospadias, Abnormal pulmonary valve morpholo... ORPHA:500
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,... ORPHA:42775
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Gastroesophageal reflux, Atrial septal defect, Hypoplastic cervical vertebrae,... ORPHA:79345
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... ORPHA:263508
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal rib morphology, Tracheoesophageal fistula, Abnor... ORPHA:93941
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... ORPHA:2255
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Branchiootorenal Syndrome 1
Branchial cyst, Renal malrotation, Branchial fistula, Congenital hip dislocation, Facial palsy, U... OMIM:113650
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ventricular septal defect, Recurrent fractures, Cryptorchidism, Abnormal rib... ORPHA:2772
Pde4D Haploinsufficiency Syndrome
Joint laxity, Hypospadias, Accelerated skeletal maturation, Cryptorchidism, Irregular vertebral e... ORPHA:439822
Noonan Syndrome 8
Curly hair, Ventricular septal defect, Polyhydramnios, Short neck, Cryptorchidism, Patent ductus ... OMIM:615355
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ri... OMIM:619698
Prune Belly Syndrome
Hydroureter, Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Patent ductus arterios... OMIM:100100
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Chorioretinal... ORPHA:195
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone concentration, ... ORPHA:226313
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Pulmonary artery atresia, Ventricular septal defect, C... OMIM:301056
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Poland Syndrome
Congenital diaphragmatic hernia, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Hypospadias, Highly arched eyebrow, Abnormality of the elbow, Abnorm... ORPHA:2319
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc... ORPHA:1756
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Contractural Arachnodactyly, Congenital
Osteopenia, Bicuspid aortic valve, Short neck, Pectus carinatum, Knee flexion contracture, High p... OMIM:121050
Thyroid Dyshormonogenesis 1
Macroglossia, Umbilical hernia, Hypothyroidism, Goiter OMIM:274400
Noonan Syndrome 9
Curly hair, Hydroureter, Ventricular septal defect, Short neck, Sparse eyebrow, Cryptorchidism, C... OMIM:616559
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Camptodactyly of finger, Recurrent fractures, Short neck, Cryptorchidism, Ky... ORPHA:3409
Renpenning Syndrome
Skeletal muscle atrophy, Alopecia, Diabetes mellitus, Hypospadias, Abnormal hairshaft morphology,... ORPHA:3242
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Sacral dimple, Ventricular septal defect, High, narrow palate, Pyloric s... ORPHA:435638
Hypothyroidism Due To Tsh Receptor Mutations
Edema, Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-sti... ORPHA:90673
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Abnormal intervertebral disk morphology, Pectus excavatum, Cryptorchidism, Del... ORPHA:2701
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... ORPHA:628
Achondrogenesis Type 1B
Polyhydramnios, Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morpholo... ORPHA:93298
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Low ... OMIM:617137
Mucopolysaccharidosis Type 4
Joint dislocation, Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Delayed ... ORPHA:582
Acromesomelic Dysplasia 1
Joint laxity, Lumbar hyperlordosis, Ovoid vertebral bodies, Short nail, Thoracolumbar interpedicu... OMIM:602875
Cat Eye Syndrome
Chorioretinal coloboma, Atrial septal defect, Vesicoureteral reflux, Iris coloboma, Patent ductus... OMIM:115470
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Cantú Syndrome
Abnormal heart valve morphology, Ovoid vertebral bodies, Curly eyelashes, Cardiomegaly, Short nec... ORPHA:1517
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Hypogonadotropic hypogonadism, Facial palsy, Hyperl... ORPHA:3068
Fumarase Deficiency
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Polyhydr... OMIM:606812
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Kagami-Ogata Syndrome
Long clavicles, Ventricular septal defect, Diastasis recti, Kyphoscoliosis, Polyhydramnios, Paten... OMIM:608149
Wildervanck Syndrome
Facial palsy, Short neck, Meningocele, Low posterior hairline, Fused cervical vertebrae, Pseudopa... ORPHA:3456
Marden-Walker Syndrome
Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bif... ORPHA:2461
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis, Abnormality of the musculature of the limbs ORPHA:3327
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Thyroid a... ORPHA:3047
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Congenital dia... OMIM:200980
Frontometaphyseal Dysplasia
Limited elbow movement, Spina bifida occulta, Wrist flexion contracture, Bifid uvula, Dislocated ... ORPHA:1826
Ellis Van Creveld Syndrome
Epispadias, Narrow chest, Atrial septal defect, Atrioventricular canal defect, Synostosis of carp... ORPHA:289
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Renal cyst, Anteriorly placed anus, High palate, Hepato... ORPHA:798
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Encephalocele, Renal agenesis, Ventricular septal defect, Adrenal hypoplasia, D... OMIM:264480
Mosaic Trisomy 9
Hypoplasia of penis, Polyhydramnios, Short neck, Hemivertebrae, Hydrops fetalis, High palate, End... ORPHA:99776
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:2869
8P23.1 Duplication Syndrome
Ventricular septal defect, Highly arched eyebrow, Adrenal insufficiency, Pulmonic stenosis, Tetra... ORPHA:251076
Trisomy 1Q
Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Congenital diap... ORPHA:261344
Legius Syndrome
Short neck, Pectus excavatum, High, narrow palate, Neurofibroma, Supravalvar pulmonary stenosis, ... OMIM:611431
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Osteopenia, Multiple joint contractures, Lymphedema, Generalized joint laxity,... ORPHA:536471
Melnick-Needles Syndrome
Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Osteolyti... ORPHA:2484
Autosomal Dominant Progressive External Ophthalmoplegia
Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Gastroesophageal reflux, Hypothyroid... ORPHA:254892
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Tongue atrophy, Prolon... OMIM:601596
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebr... ORPHA:168549
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla... ORPHA:2842
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Abnormality of the ur... ORPHA:1046
Shashi-Pena Syndrome
Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Accelerated skeletal maturation, Hig... OMIM:617190
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck... OMIM:272460
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Hemiverteb... OMIM:104350
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Abnormal hair pattern, Renal hypoplasia/aplasia, Delayed skeletal matu... ORPHA:1770
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Delayed cranial suture closure, Decreased circulatin... ORPHA:90674
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Thoracolumbar scoliosis, Spina bifida, Myelome... ORPHA:2437
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine, Synophrys, O... OMIM:252930
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Anal atresia OMIM:309620
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Noonan Syndrome 6
Curly hair, Edema, Short neck, Pectus excavatum, Cryptorchidism, Polyhydramnios, Long eyebrows, L... OMIM:613224
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... OMIM:253010
Acro-Renal-Ocular Syndrome
Renal malrotation, Vertebral fusion, Aganglionic megacolon, Renal hypoplasia/aplasia, Optic disc ... ORPHA:959
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Thickened ribs, Abnormal heart valve morphology, Short neck, Joint s... OMIM:230500
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Low ... OMIM:617796
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Tetralogy of Fallot, Hypospadias ORPHA:276422
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the kidney, Enlarged poly... ORPHA:201
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Patent... ORPHA:284169
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Tyshchenko Syndrome
Ventricular septal defect, Thick hair, Supernumerary nipple, Polyhydramnios, Pectus excavatum, Cr... OMIM:615102
Smith-Magenis Syndrome
Renal hypoplasia/aplasia, Precocious puberty, Joint stiffness, Synophrys, Abnormality of the uret... ORPHA:819
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Nephritis, Goiter OMIM:274240
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Abnormal skeletal muscle morphology, Anaplastic thyroid carcinoma, Dys... ORPHA:142
Stankiewicz-Isidor Syndrome
Ureteral duplication, Sacral dimple, Hypospadias, Truncus arteriosus, Ventricular septal defect, ... OMIM:617516
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Widely patent sagittal suture, Short ... OMIM:228520
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Lateral clavicle hook, Pectus carinatum, High palate, Gastroesophage... OMIM:182212
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
Atelosteogenesis, Type I
11 pairs of ribs, Encephalocele, Long clavicles, Polyhydramnios, Short neck, Thoracic platyspondy... OMIM:108720
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Recurrent fractures, Polyhydramnios, Short neck, Abnormality of the elbo... ORPHA:1486
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Intestinal polyposis, Abnormal large int... ORPHA:109
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Joint stiffness, Synophrys, Ovo... OMIM:252920
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Cryptorchidism, Submu... OMIM:619103
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Es... ORPHA:77298
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Short neck, Pectus carinatum, Coarse hair, High palate, Atrial septal defect, Spa... OMIM:617506
Campomelia, Cumming Type
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Lymphedema, Pancreatic cysts, Abnorm... ORPHA:1318
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Abnormality of the endocrine system, Ureteral agenesis, Ureteral dysgenesis, Anal... OMIM:274265
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Restrictive Dermopathy
Osteopenia, Ureteral duplication, Multiple joint contractures, Polyhydramnios, Atrial septal defe... ORPHA:1662
Craniodiaphyseal Dysplasia
Optic atrophy, Abnormal rib morphology ORPHA:1513
Chops Syndrome
Curly hair, Ventricular septal defect, Thick hair, Tracheomalacia, Cryptorchidism, High, narrow p... OMIM:616368
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Delayed skele... OMIM:180860
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Abnormality of the kidney, Polyhydramnios, Abnorm... ORPHA:141127
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Supernumerary nipple, Pectus excavatum, Widow's peak, Submucous cleft hard pala... OMIM:619122
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal carpal morphology, O... ORPHA:93351
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Ascher Syndrome
High palate, Upper eyelid edema, Hypothyroidism, Goiter ORPHA:1253
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Optic atrophy, Thoracic kyphosis, Scoliosis ORPHA:530983
Microphthalmia, Lenz Type
Abnormal clavicle morphology, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia... ORPHA:568
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Abnorm... ORPHA:2519
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Ureteral stenosis, Hydroureter, Pectus excavatum, Patent ductus arteriosus, Delayed s... OMIM:615398
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Sparse eyelashes, High, narrow palate, Patent ductus arteriosus, D... OMIM:612863
Noonan Syndrome 5
Curly hair, Polyhydramnios, Short neck, Sparse eyebrow, Cryptorchidism, Fine hair, Abnormal stern... OMIM:611553
Van Esch-O'Driscoll Syndrome
Sacral dimple, Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulm... OMIM:301030
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:1836
Cartilage-Hair Hypoplasia
Short neck, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, Pectus carina... ORPHA:175
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Scoliosis, Pulmonic stenosis, Contracture of the proximal interphalangeal joint... OMIM:620141
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Short neck, High,... ORPHA:488632
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyp... ORPHA:3082
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Cleft palate, Ab... ORPHA:90650
Leopard Syndrome 1
Limited elbow movement, Short neck, Pectus carinatum, Aplasia of the ovary, Micropenis, Spina bif... OMIM:151100
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Cranial nerve compression, Schwannoma, Abnormal glossopha... ORPHA:221098
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Hypospadias, Facial palsy, Polyhydramnios, Edema of the dorsum of hands,... ORPHA:171430
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho... ORPHA:254534
Lymphangiectasia, Intestinal
Edema, Malabsorption, Abnormal hair morphology, Pedal edema, Stillbirth, Intestinal lymphangiecta... OMIM:152800
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Tracheoeso... ORPHA:1780
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... OMIM:619503
Pediatric-Onset Graves Disease
Craniosynostosis, Accelerated skeletal maturation, Puberty and gonadal disorders, Thyrotoxicosis ... ORPHA:525731
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the patella, Malabsorption, Abnormality of the ureter, Abnormal carpal morp... ORPHA:1225
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephroblastoma, Thyroid nodule,... OMIM:180295
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Abdominal aortic... ORPHA:284984
Noonan Syndrome 14
Curly hair, Scapular winging, Polyhydramnios, Short neck, Pectus excavatum, Cryptorchidism, Kypho... OMIM:619745
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Polyhydramnios, Missing ribs, Abnormal rib morphology, Hemivert... ORPHA:2759
3Q29 Microdeletion Syndrome
Hypospadias, Pectus excavatum, Patent ductus arteriosus, Horseshoe kidney, Pectus carinatum, Join... ORPHA:65286
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Abnormal pulmonary valve morphology, Optic nerve hypoplasia, Accelerat... ORPHA:137634
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Abnormal sternum morphology, Patent urachus, Vesicourete... OMIM:192350
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Jeune Syndrome
Abnormal clavicle morphology, Renal insufficiency, Short thorax, Abnormal rib morphology, Abnorma... ORPHA:474
Degcags Syndrome
Osteopenia, Polyhydramnios, Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low... OMIM:619488
3M Syndrome
Scapular winging, Congenital hip dislocation, Hypospadias, Thick eyebrow, Abnormal cerebral vascu... ORPHA:2616
Cenani-Lenz Syndrome
Renal hypoplasia/aplasia, Elbow dislocation, High, narrow palate, Abnormal rib morphology, Hip di... ORPHA:3258
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Single coronary artery origin, Hypospadias, Ventricula... ORPHA:1708
Codas Syndrome
Congenital hip dislocation, Hydroureter, Ventricular septal defect, Delayed skeletal maturation, ... ORPHA:1458
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Polyhydramnios, Ectopic kidney, Renal cyst, Anteriorly placed anus, G... OMIM:117650
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Sparse scalp hair, Sparse eyelashes, Kyphoscoliosis, Sparse ... ORPHA:75496
Aredyld Syndrome
Abnormality of the ureter, Type II diabetes mellitus, Scoliosis, Type I diabetes mellitus, Sparse... ORPHA:1133
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormo... ORPHA:363958
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Elevated circulating parathyroid hormone level, Pheochromocytoma, Gang... ORPHA:653
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Abnormal thorax morphology, Pulmonic stenosis, Dysphagia, Hypertrophic cardiomyop... ORPHA:638
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca... OMIM:613795
Occipital Horn Syndrome
Persistent open anterior fontanelle, Pectus carinatum, Coarse hair, High palate, Narrow chest, Br... OMIM:304150
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Cleft palate,... OMIM:601076
Short-Rib Thoracic Dysplasia 12
Edema, Short neck, Polyhydramnios, Lobulated tongue, Thoracic dysplasia, Narrow chest, Neonatal d... OMIM:269860
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Delayed skeletal maturation, Elevated circulating th... ORPHA:99832
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis,... OMIM:614262
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ventricular se... ORPHA:139466
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Pectus excavatum, Arteria lusoria, Double out... OMIM:620294
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, G... ORPHA:583
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyr... ORPHA:83601
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, High palate, Scoli... ORPHA:2180
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Hydranen... OMIM:236500
Meckel Syndrome, Type 1
Occipital encephalocele, Adrenal hypoplasia, Short neck, Lobulated tongue, Iris coloboma, Cryptor... OMIM:249000
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Sarcosinemia
Peroneal muscle weakness, Optic atrophy, Pulmonic stenosis, Hypersarcosinuria, Hypertrophic cardi... ORPHA:3129
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Polyhydramnios, Short neck, Renal cyst, Atrial s... OMIM:229850
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Accelerated skeletal maturation, Polyhydramnios, Renal cyst, Pec... OMIM:312870
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... ORPHA:91347
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Rena... ORPHA:2166
Microphthalmia, Syndromic 9
Renal malrotation, Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hern... OMIM:601186
Pendred Syndrome
Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter ORPHA:705
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Adrenal calcification, Edema, Cardiomegaly, Polyhydramnio... ORPHA:51608
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Lymphedema, Highly arched eyebrow, Cryptorchidism, Patent... OMIM:616737
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Flexion contracture, Rib osteolysis, Atherosclerosis, Alopecia, Sparse ey... OMIM:614008
Noonan Syndrome 11
Pectus excavatum, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Restrictive Dermopathy 1
Ureteral duplication, Adrenal hypoplasia, Polyhydramnios, Flexion contracture, Atrial septal defe... OMIM:275210
Cardiofaciocutaneous Syndrome
Brittle hair, Short neck, Lymphedema, High palate, Sparse hair, Atrial septal defect, Dystrophic ... ORPHA:1340
X-Linked Mandibulofacial Dysostosis
Pectus excavatum, Cryptorchidism, Branchial anomaly, High palate, Pulmonic stenosis, Abnormal mit... ORPHA:1131
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Abnormality of the kidney, Supernumerary nipple, Pectus excavatum, Cr... OMIM:263750
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Patent ductus arteriosus, Delay... OMIM:608328
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Delayed skeletal maturation, Mitral valve prolapse, Joint hyperf... ORPHA:2868
Duane Retraction Syndrome
Skeletal muscle atrophy, Patchy hypopigmentation of hair, Ectopic kidney, Short neck, Anorectal a... ORPHA:233
Frontoocular Syndrome
Pectus excavatum, High palate, Pulmonic stenosis, Atrial septal defect, Coronal craniosynostosis OMIM:605321
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... OMIM:212093
Greenberg Dysplasia
Polyhydramnios, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral densit... OMIM:215140
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Craniofacial osteosclerosis, High palate, Gastroesophageal reflux, Atrial septal ... OMIM:300373
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... ORPHA:3426
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Septo-optic dysplasia, Polyhydramnio... ORPHA:3301
Blepharochalasis And Double Lip
Blepharochalasis, Goiter OMIM:109900
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Hyperlordosis, Synophrys, Abnormality of the ureter, Bilateral c... ORPHA:3253
Stüve-Wiedemann Syndrome
Osteopenia, Sacral dimple, Camptodactyly of finger, Recurrent fractures, Flexion contracture, Elb... ORPHA:3206
Grant Syndrome
Joint dislocation, Abnormal rib morphology, Decreased skull ossification, Joint hyperflexibility,... ORPHA:2097
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue, Congenital ... ORPHA:958
Hurler Syndrome
Abnormal clavicle morphology, Abnormal heart valve morphology, Camptodactyly of finger, Short nec... ORPHA:93473
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Cryptorchidism, Widow's peak, Hyperex... OMIM:227330
Atelosteogenesis Type I
Joint dislocation, Polyhydramnios, Malrotation of colon, Abnormal ossification involving the femo... ORPHA:1190
Charge Syndrome
Polyhydramnios, Hemivertebrae, Gastroesophageal reflux, Abnormality of bone mineral density, Chor... ORPHA:138
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Polyhydramnios, Gastroesophageal reflux, Sparse hair, Atrial ... OMIM:620186
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Thyroid Lymphoma
Hyperthyroidism, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Pulmonic stenosis, Dehydration ORPHA:79159
Toriello-Carey Syndrome
Aganglionic megacolon, Short neck, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Wide... ORPHA:3338
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Achondrogenesis, Type Ia
Polyhydramnios, Beaded ribs, Short neck, Abnormal hand bone ossification, Hydrops fetalis, Narrow... OMIM:200600
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Stiff neck, Facial palsy, Limb pain, Abnormal glossopharyngea... ORPHA:297
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Cryptorchidism, Patellar aplasia, Abnormal rib morphology, L... ORPHA:96061
Fanconi Anemia
Reduced bone mineral density, High palate, Atrial septal defect, Abnormality of the hypothalamus-... ORPHA:84
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Abnormality of the upper urinary tract, Abnormality of the urethra, Abnormal ri... ORPHA:2145
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m... ORPHA:2021
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Pectus carinatum... OMIM:115150
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect,... OMIM:164210
Familial Visceral Myopathy
Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Joint stiffness... ORPHA:2604
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Spina bifida, Renal hy... ORPHA:991
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Lateral clavicle hook, Elbow dislocation, Anterior vertebral fusion, Shoulder dis... OMIM:171480
Myotubular Myopathy With Abnormal Genital Development
Unilateral cryptorchidism, Hypospadias, Polyhydramnios, Centrally nucleated skeletal muscle fiber... OMIM:300219
Hyperparathyroidism, Transient Neonatal
Osteopenia, Hyperparathyroidism, Wide cranial sutures, Recurrent fractures, Unilateral renal agen... OMIM:618188
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Renal agenesis, Hypospadias, Abnormal pericardium morphology, ... ORPHA:1335
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Polyhydramnios, Short neck, Flat acetabular r... OMIM:151210
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary ... OMIM:270100
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Joint laxity, Hypoplasia of the bladder, Atrial septal defect, Hydroureter, Bicuspid aortic valve... OMIM:300707
Costello Syndrome
Ventricular septal defect, Polyhydramnios, Short neck, Abnormal hair morphology, Cryptorchidism, ... ORPHA:3071
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, Short neck, High, narrow palate, Synophrys, Rena... OMIM:122470
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intestinal malrotation, Late... OMIM:263520
Williams-Beuren Syndrome
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Early ... OMIM:194050
Noonan Syndrome 1
Short neck, Lymphedema, High, narrow palate, Abnormal sternum morphology, High palate, Atrial sep... OMIM:163950
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Joint swelling, Fused cervical vertebrae, Flaring of rib c... OMIM:612852
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Chime Syndrome
Ventricular septal defect, Abnormality of the kidney, Aplastic clavicle, Pulmonary valve atresia,... ORPHA:3474
Mucopolysaccharidosis, Type Vi
Flexion contracture, Pectus carinatum, Broad ribs, Anterior wedging of L1, Avascular necrosis, Lu... OMIM:253200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Glossoptosis, High palate, Gast... ORPHA:444077
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short neck, Synophrys, Hypertrophy of the urinary bladder, Gastroesophageal reflux, Narrow chest,... ORPHA:280633
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Patent foramen ovale, Elevated circulating thyroid-stimulating hormone concentr... OMIM:225250
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Prominent metopic ridge, Hypospadias, Cryptorchidism, Penoscrotal transposition, P... OMIM:619148
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,... ORPHA:90291
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Limited elbow movement, Short neck, Synophrys, Low anterior hairline, High... OMIM:610759
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Patent ductus arteriosus, Spina... OMIM:277600
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Hypoplasia of penis, Absent eyelashes, Cryptorchidism, Patent d... ORPHA:861
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Renal hypoplasia, Small thenar eminence, Joint contracture of the 4th finger, Join... OMIM:618914
Lessel-Kreienkamp Syndrome
Wide cranial sutures, Bicuspid aortic valve, Patent ductus arteriosus, Gastroesophageal reflux, P... OMIM:619149
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Polyhydramnios, Short neck, Synophrys, Flexion contracture, High palate, Gene... OMIM:620369
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Diphallia
Ureteral duplication, Epispadias, Hemivertebrae, Duplicated colon, Atrial septal defect, Bladder ... ORPHA:227
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Pectus excava... ORPHA:2463
Hardikar Syndrome
Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, Thoracolumb... OMIM:301068
Rhizomelic Syndrome
Wide anterior fontanel, Hip dislocation, Pulmonic stenosis OMIM:268250
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... ORPHA:3109
Oeis Complex
Congenital hip dislocation, Epispadias, Hemivertebrae, Anteriorly placed anus, Duplicated colon, ... OMIM:258040
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Abnormality of the upper urinary tract, Spina... ORPHA:3380
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s... ORPHA:733
Glutaric Aciduria Iii
Glutaric aciduria, Hyperthyroidism, Goiter OMIM:231690
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Long eyelashes, Biconcave vert... OMIM:617952
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Spinal rigidity, Dilated cardiomyopathy, Flexion contract... OMIM:253800
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Cardiomegaly, Synophrys, Flexion contracture, Abnormal form of the ... ORPHA:581
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Schwannoma,... OMIM:160980
Scimitar Syndrome
Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,... ORPHA:185
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Hyperthyroidism, Goiter OMIM:188580
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Kyphosis, Gastrointestinal dysmotility, Axonal degeneration, Abnormal sensory nerv... ORPHA:88628
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Pyloric stenosis, Generaliz... OMIM:613848
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, High, narrow palate, Abnormal ... ORPHA:1452
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... OMIM:143400
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Edema, Polyhydramnios, Hydrops fetalis... OMIM:200610
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... ORPHA:3092
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Congenital malformation of the... ORPHA:3455
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell... OMIM:224300
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp... ORPHA:93929
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Short neck, Cryptorchidism, Embryonal ... OMIM:257300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion cont... OMIM:271640
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Abnormal form o... ORPHA:818
Exstrophy-Epispadias Complex
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... ORPHA:322
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Delayed skeletal maturation, Elevated circulating thyroid-stimulating hormone c... OMIM:218700
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Diastasis recti, Polyhydramnios, Pectus excavatum, Large placenta, Flexion contract... ORPHA:254528
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alopecia, Ectopic o... OMIM:135100
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Short neck, High, narrow ... ORPHA:3015
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp... ORPHA:217085
Noonan Syndrome 3
Ventricular septal defect, Sagittal craniosynostosis, Polyhydramnios, Pectus excavatum, Cryptorch... OMIM:609942
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Renal hypoplasia/aplasia, Joint ... ORPHA:2167
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Delayed skeletal maturation, Mitral valve prolapse, Joint hyperf... ORPHA:228410
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology, Cleft palate,... OMIM:602196
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Hemivertebrae, Knee flexi... OMIM:151050
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp... ORPHA:217093
Distal Deletion 19P
Alopecia, Ventricular septal defect, Cleft palate, Joint hyperflexibility, Tricuspid valve prolap... ORPHA:96129
Waardenburg Syndrome, Type 1
White eyelashes, White eyebrow, Spina bifida, Myelomeningocele, Synophrys, Premature graying of h... OMIM:193500
Aspergillosis
Osteomyelitis, Abnormality of the kidney, Abnormal rib morphology, Intracranial hemorrhage, Abnor... ORPHA:1163
Microphthalmia, Syndromic 2
Flexion contracture, Laterally curved eyebrow, Atrial septal defect, Contracture of the proximal ... OMIM:300166
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Short neck, Flexion contracture, Hemivertebrae, Abnormal aortic arch morphology, ... ORPHA:96334
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Short thorax, Rect... OMIM:617666
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Hamartoma of tongue, Esophageal diverticulum, Lateral clavicle hook, Complete... OMIM:617925
Cerebrofacioarticular Syndrome
Osteopenia, Anal stenosis, Hypospadias, Lymphedema, Renal hypoplasia, Absence of pubertal develop... ORPHA:314679
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Bilateral Polymicrogyria
Abnormality of masticatory muscle, Central hypothyroidism, Facial diplegia, Pseudobulbar paralysi... ORPHA:268940
Monosomy 9Q22.3
Ovarian fibroma, Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal m... ORPHA:77301
Alg9-Cdg
Villous atrophy, Short neck, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventric... ORPHA:79328
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... OMIM:171400
Multifocal Atrial Tachycardia
Ventricular septal defect, Cryptorchidism, Hypothyroidism, Pulmonic stenosis, Atrial septal defec... ORPHA:3282
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Chorioretinal coloboma, Atrial septa... ORPHA:857
Kabuki Syndrome 2
Joint laxity, Highly arched eyebrow, Hip dislocation, Horseshoe kidney, Coarctation of aorta, Cle... OMIM:300867
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Hypoplastic acetabulae, Thin ribs, Coronal cleft vertebrae, Platyspondyly... OMIM:620076
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Coloboma, Gastroesophageal ref... ORPHA:353281
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Spinal canal stenosis, High palate, Pulmonic stenosis, Atrial septal def... OMIM:618282
17Q24.2 Microdeletion Syndrome
Otosclerosis, Decreased response to growth hormone stimulation test, Short neck, Synophrys, Paten... ORPHA:529962
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Optic atrophy, Stroke-lik... OMIM:222300
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Septo-optic dysplasia, Decreased response to growth horm... ORPHA:95494
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Patent... OMIM:619657
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Wide cranial sutures, Protrusio acetabuli, Recurrent fracture... OMIM:610682
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Short neck, Hypoplasia of first ribs, Hepatoblastoma, Atrial sep... OMIM:269150
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, High palate, Atrial septal defect, Spi... OMIM:135900
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... OMIM:224690
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Duplicated collecting system, Joint laxity, Curly hair, Sparse scalp hair, Ventricular septal def... OMIM:607721
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Polyhydramnios, Delayed epiphyseal ossification, Patellar ... OMIM:114290
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ... OMIM:619472
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, ... OMIM:620025
Branchial Arch Syndrome, X-Linked
Cryptorchidism, High palate, High, narrow palate, Pulmonic stenosis OMIM:301950
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Upper limb muscle weakness, Cervical C2/C3 vertebral fusion ORPHA:370010
Weill-Marchesani Syndrome
Aortic valve stenosis, Limitation of joint mobility, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Prominent metopic ridge, Congenital muscular torticollis, Camptodactyly ... ORPHA:2215
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Chromosome 1P36 Deletion Syndrome, Proximal
Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal ... OMIM:619343
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Bone pain, Thyroid carcinoma, Patchy reduction of bone mineral dens... ORPHA:249
Sotos Syndrome
Ureteral duplication, Accelerated skeletal maturation, Flexion contracture, Pedal edema, Gastroes... ORPHA:821
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Dry hair, Flexion contracture, Premature graying of hair, Gastroesophage... ORPHA:90324
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Pheochromocytoma, Elevated circulating calcitonin concent... ORPHA:1332
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Accelerated skeletal maturation, In... OMIM:609152
Thoracic Outlet Syndrome
Varicose veins, Abnormal rib morphology, Edema ORPHA:97330
Melnick-Needles Syndrome
Hypoplastic scapulae, Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis... OMIM:309350
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Flexion contracture of finger, Hypergonadotropic hypogonadism, Decreased re... OMIM:602782
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo... ORPHA:2050
Myhre Syndrome
Abnormal penis morphology, Hypospadias, Joint stiffness, Precocious puberty, Cryptorchidism, Epis... ORPHA:2588
Costello Syndrome
Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Polyhydramnios, Pect... OMIM:218040
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Hamartoma of tongue, Unicoronal synostosis, Sparse eyebrow, Cryptorchidism, Patent... OMIM:616300
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Patent ductus arteriosus after premature birth, Delayed clos... OMIM:618460
Temple-Baraitser Syndrome
Atrial septal defect, Gastroesophageal reflux, Pulmonic stenosis OMIM:611816
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Edema, Short neck, Renal cyst, High palate, Narrow chest, Nephr... OMIM:266920
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Hamartoma of tongue, Intestinal malrotation, Lateral clavicle hook, Horizont... OMIM:613091
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Penile freckling, Hurthle cell thyroid adenoma, Thyroid carcinoma, Lymphoid... ORPHA:210548
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology ORPHA:2643
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Ventricular septal defect, Facial hypotonia, Short neck, Pectus excavatum, Cryptor... OMIM:613458
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Pleural effusion, ... ORPHA:2414
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic fibrosis, Intestinal malrotation, Pancreatic cysts, Situs inversu... OMIM:208540
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Short neck, Polyhydramnios, Large placenta, Limitation of joint ... ORPHA:254519
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... ORPHA:2241
Chronic Atrial And Intestinal Dysrhythmia
Intestinal pseudo-obstruction, Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis OMIM:616201
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:90695
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno... ORPHA:93930
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Streak ovary, Abnormal peripheral myelination, Increased circulating gon... ORPHA:168563
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Atrial septal defect, Anal stenosis, Ureteral hypoplasia, ... OMIM:614080
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Accelerated skeletal maturation, Thyrotoxicosis with diffuse goiter, Activating ... ORPHA:424
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesop... ORPHA:534
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Hypertrophic cardiomyopathy, Stillbirth, Aortic valve stenosis, Pulmonic ... OMIM:615415
Coffin-Siris Syndrome 4
Atrial septal defect, Sparse scalp hair, Ventricular septal defect, Mitral atresia, Patent ductus... OMIM:614609
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal number of hair whorls, Mitral atresia, Patent ductus arteriosus, Optic atrophy, Double o... OMIM:618164
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Cryptorchidism, Kyphosis, Cleft palate, Pulmonic stenosis, Camptodacty... OMIM:619123
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Pedal edema, Tubulointerstitial nephr... ORPHA:449395
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent metopic ridge, Hydroureter, Transient ischemic attack, Palpebral edema, Abnormality of ... ORPHA:2995
Peters-Plus Syndrome
Ureteral duplication, Bilobate gallbladder, Limited elbow movement, Short neck, Polyhydramnios, H... OMIM:261540
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Ascites, Hydrops fetalis, Pulmonic stenosis OMIM:619433
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Polyhydramnios, Short neck, High, narrow palate, Congen... OMIM:208150
Atelis Syndrome 2
Sacral dimple, Remnants of the hyaloid vascular system, Kyphosis, Patent ductus arteriosus, Eleva... OMIM:620185
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ... OMIM:610915
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Accelerated skeletal maturat... ORPHA:116
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, Abnormal renal m... ORPHA:83
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... ORPHA:1461
Neurofibromatosis-Noonan Syndrome
Pectus excavatum of inferior sternum, Short neck, Pectus excavatum, Cryptorchidism, Secundum atri... OMIM:601321
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, Vesicoureteral ... ORPHA:438213
Intellectual Developmental Disorder, Autosomal Dominant 43
Synophrys, High palate, Gastroesophageal reflux, Pulmonic stenosis, Umbilical hernia, Hirsutism OMIM:616977
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Brittle hair, Congenital diaphragmatic hernia, ... OMIM:305600
Wolfram Syndrome, Mitochondrial Form
Diabetes mellitus, Hydroureter, Optic atrophy, Abnormal autonomic nervous system physiology, Diab... OMIM:598500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Cardiomegaly, Antena... OMIM:608836
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Intestinal malrotation ORPHA:3035
Hypophosphatasia
Recurrent fractures, Abnormal rib morphology, Narrow chest, Craniosynostosis ORPHA:436
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Spinal neurofibroma, Ventricular septal defect, Kyphoscoliosis, Renal hypoplasia/aplasia, Pectus ... ORPHA:363700
Oculocerebrocutaneous Syndrome
Alopecia, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Cryptorchidi... ORPHA:1647
Mitochondrial Complex I Deficiency, Nuclear Type 18
Wide anterior fontanel, Hydroureter, Hydronephrosis, Optic disc pallor OMIM:618240
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Hydroureter, Unilateral renal agenesis, Supernumerary nipple, Pectus excavatum, ... OMIM:619194
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Pyloric stenosis, Nephrolithiasis, Vesicoureteral reflux, Vascular dilatation OMIM:617219
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Delayed skeletal maturation, Genu valgum, Pulmonic stenosis, Hypophosphatemic ... OMIM:613312
Legius Syndrome
Neurofibroma, Nephrolithiasis, Desmoid tumors, Ovarian neoplasm, Mitral valve prolapse, Abnormal ... ORPHA:137605
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Coloboma, High... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Coloboma, High... ORPHA:353277
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Cor triatriatum, Prominent superficial veins, Secundum atrial... OMIM:612541
17Q11 Microdeletion Syndrome
Osteopenia, Multiple mucosal neuromas, Abnormal internal carotid artery morphology, Elevated circ... ORPHA:97685
Thyroid Ectopia
Abnormality of the thyroid gland, Macroglossia, Ectopic thyroid, Umbilical hernia, Hypothyroidism ORPHA:95712
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Ha... OMIM:175200
Trichohepatoenteric Syndrome 1
Curly hair, Villous atrophy, Brittle hair, Hypospadias, Ventricular septal defect, Polyhydramnios... OMIM:222470
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis, Joint stiffness OMIM:614819
Apert Syndrome
Esophageal atresia, Optic atrophy, Cervical C5/C6 vertebrae fusion, Narrow palate, Ovarian neopla... ORPHA:87
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Arboleda-Tham Syndrome
Bilateral cryptorchidism, Secundum atrial septal defect, Long thorax, Gastroesophageal reflux, Na... OMIM:616268
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
Microphthalmia, Syndromic 1
Bicuspid aortic valve, High, narrow palate, Rectal prolapse, High palate, Narrow chest, Chorioret... OMIM:309800
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Intellectual Developmental Disorder, Autosomal Dominant 45
Scoliosis, Pulmonic stenosis OMIM:617600
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Adams-Oliver Syndrome 5
Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Umbilical hernia, Patent foramen o... OMIM:616028
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Highly arched eyebrow, Short neck, Secundum atrial septal defect, Low an... OMIM:615802
Pitt-Hopkins-Like Syndrome 2
Gastroesophageal reflux, Scoliosis, Pulmonic stenosis, Protruding tongue OMIM:614325
Brittle Cornea Syndrome
Osteoporosis, Abnormality of hair pigmentation, Cleft palate, Mitral valve prolapse, Increased su... ORPHA:90354
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Mandibulofacial Dysostosis With Alopecia
Alopecia, Hydroureter, Bicuspid aortic valve, Sparse eyelashes, Cleft palate, Glossoptosis OMIM:616367
Mowat-Wilson Syndrome
Pectus carinatum, Chorioretinal coloboma, Atrial septal defect, Iris coloboma, Hypospadias, Abnor... OMIM:235730
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Polyhydramnios, Patent ductus arteriosus, Horseshoe kidney, Coarctation of aorta, Aplasia of the ... OMIM:617088
Vici Syndrome
Joint stiffness, Optic atrophy, Ureteral atresia, Renal tubular acidosis, Cardiomyopathy, High pa... ORPHA:1493
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Prominent metopic ridge, Abnormality of the kidney, Vertebrobasilar dolichoectasia, Nephrolithias... ORPHA:521445
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Anter... OMIM:604292
Penile Agenesis
Urethral atresia, male, Hydroureter, Ventricular septal defect, Maternal diabetes, Rectal fistula... ORPHA:49
Monosomy 9P
Hypospadias, Congenital diaphragmatic hernia, Short neck, Highly arched eyebrow, Cryptorchidism, ... ORPHA:261112
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Autosomal Dominant Popliteal Pterygium Syndrome
Joint stiffness, Cryptorchidism, Abnormal rib morphology, Cleft palate, Popliteal pterygium, Scol... ORPHA:1300
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormal scapula morphology, Accelerated skeletal maturation, Myocarditis, Delayed skeletal matur... ORPHA:93317
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Micropenis, Spina b... ORPHA:488434
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Polyhydramnios, Epispadias, Abnorm... ORPHA:3339
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Intestinal malrotation, Oligohydramnios, Fetal megacystis, Generalized edema OMIM:249210
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Polyhydramnios, Optic disc coloboma, Cleft palate, ... OMIM:270420
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Multinodular goiter, Ovarian neoplasm, Renal cell car... ORPHA:276399
Mowat-Wilson Syndrome
Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Fle... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Flexion contracture, Pectus carin... ORPHA:261537
Meckel Syndrome 12
Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Bilateral renal agenesis, Arthrogry... OMIM:616258
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... ORPHA:411709
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Facial edema, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Enlar... ORPHA:79078
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Raine Syndrome
Increased bone mineral density, Hydroureter, Highly arched eyebrow, Protruding tongue, Pectus exc... OMIM:259775
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis OMIM:619239
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral b... ORPHA:2636
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Joint hypermobility, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascula... OMIM:618343
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Flexion contracture, Pectus carin... ORPHA:261552
Cowden Syndrome 7
Intestinal polyposis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditi... OMIM:616858
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... OMIM:620067
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Craniosynostosis, Recurrent fractures, Abnormality of hair t... ORPHA:667
Hereditary Orotic Aciduria
Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Aminoaciduria, Oro... ORPHA:30
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Polyhydramnios, Abnormality of the urethra, Scarring alopecia of scalp, Flexion ... ORPHA:158684
Adams-Oliver Syndrome 1
Encephalocele, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, ... OMIM:100300
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Edema, Gastrointestina... ORPHA:100078
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Camptodactyly of finger, Abnormal preputium morphology... ORPHA:2907
Elsahy-Waters Syndrome
Anal stenosis, Thick eyebrow, Hypospadias, Bilateral cryptorchidism, Pectus excavatum, Synophrys,... OMIM:211380
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Polyhydramnios, Urinary bladder inflammation, Congenital pyloric atresia, Hyd... ORPHA:79403
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Edema, Renal cyst, Gastrointestinal inflammation, Dehydration, Aplasia/Hypopl... ORPHA:79404
Monosomy 13Q34
Fetal pyelectasis, Hematochezia, Horizontal eyebrow, Pulmonic stenosis, Common atrium, Osteochond... ORPHA:96168
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Hematuria, Melena, Intracranial hem... ORPHA:99147
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, High palate, Broad ribs, Elbow ankylosis, Barrel-sha... OMIM:276820
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, E... ORPHA:2554
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Pyknoachondrogenesis
Abnormal intramembranous ossification, Palpebral edema, Short thorax, Poorly ossified vertebrae, ... ORPHA:3003
Thyroid Hypoplasia
Macroglossia, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Ulbright-Hodes Syndrome
Abnormal penis morphology, Maternal diabetes, Short neck, Cryptorchidism, Humeroradial synostosis... ORPHA:3404
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Eosinophilic infiltration of the esophagus, Malabsorption, Multiple muscular ventricular septal d... OMIM:615508
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Thyroid C cell hyperplasia OMIM:300952
White-Kernohan Syndrome
Joint laxity, Hydroureter, Synophrys, Broad medial eyebrow, Horseshoe kidney, Anteriorly placed a... OMIM:619426
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... ORPHA:2973
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Xerostomia, Urete... OMIM:129900
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Nephrogenic diabetes... ORPHA:223
Kindler Epidermolysis Bullosa
Urethral stricture, Camptodactyly of finger, Phimosis, Esophageal stricture, Flexion contracture,... ORPHA:2908
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vascular dilatation OMIM:602200
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Multinodular goiter, Nail dystrophy OMIM:618373
Mckusick-Kaufman Syndrome
Hydroureter, Congenital hip dislocation, Aganglionic megacolon, Edema, Cryptorchidism, Pedal edem... OMIM:236700
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Peripheral axonal neuropathy, Hypospadias, Cryptorchidism, Urolithiasis, Gou... OMIM:300661
Meckel Syndrome
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasia/H... ORPHA:564
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Hyperechog... OMIM:617914
Castleman Disease
Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruction, Hematuria... ORPHA:160
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Keutel Syndrome
Ventricular septal defect, Costal cartilage calcification, Premature fusion of phalangeal epiphys... OMIM:245150
Proboscis Lateralis
Abnormal eyebrow morphology, Ventricular septal defect, Abnormal location of the eyebrow, Unilate... ORPHA:141099
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormal... ORPHA:2273
Watson Syndrome
Neurofibroma, Pulmonic stenosis, Pectus carinatum OMIM:193520
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Polyhydramnios, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydronephr... OMIM:619362
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter, Embryonal rhabdomyosarcoma, Adenocarcinoma of the colon OMIM:620189
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Precocious puberty, Cleft palate, Ureterocele, Umbilical hernia, Micro... ORPHA:1934
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Diabetes mellitus, Renal insufficiency, Renal hypoplasia/aplasia, C... ORPHA:261265
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Short neck, Pectus excavatum, Cryptorchidism, Synophrys, Low anterior hairline, Clef... OMIM:616734
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Microcolon, Oligohydramnios OMIM:619431
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Nonimmune hydrops fetalis, Ureteral agenesis, Bil... OMIM:617667
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Intestinal perforation, Rectal prolapse, Colonic stenosis, Dehydration, Hemoglobinuria, A... ORPHA:90038
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... OMIM:600057
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy, Adrenal insufficiency, Ureterocele OMIM:614863
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Palpebral edema, Abnormality of the kid... ORPHA:2036
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, High, narrow palate, Duplication of renal pelvis, Hypothyroidism, Thick eye... ORPHA:457212
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia OMIM:615989
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Chand Syndrome
Curly hair, Hydroureter, Bifid tongue, Cleft palate ORPHA:1401

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cir1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cir1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cir1tm3a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Cir1tm3a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cir1tm3a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cir1tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cir1tm3a(KOMP)Wtsi PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. Wellcome open research (January 2016) Cir1tm3a(KOMP)Wtsi PMC5159622

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cir1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cir1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cir1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cir1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cir1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Cir1tm3a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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