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Gene: Igf2 MGI:96434

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

insulin-like growth factor 2

Synonyms:

Igf-2, Peg2, Mpr, M6pr, Igf-II

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Igf2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Igf2 (5 diseases)
Human diseases predicted to be associated with Igf2 (597 diseases)

The table below shows human diseases associated to Igf2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Silver-Russell Syndrome Due To A Point Mutation	Postnatal growth retardation, Intrauterine growth retardation, Small placenta, Oligohydramnios	ORPHA:397590
Silver-Russell Syndrome Due To 11P15 Microduplication	Short stature, Postnatal growth retardation, Umbilical hernia, Severe intrauterine growth retarda...	ORPHA:231144
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Polydactyly, Diastasis recti, Upper limb asymmetry	ORPHA:231140
Isolated Hemihyperplasia	Cryptorchidism, Inguinal hernia, Myelomeningocele, Scoliosis	ORPHA:2128
Silver-Russell Syndrome 3	Syndactyly, Short stature, Elbow contracture, Postnatal growth retardation, Small hand, Clinodact...	OMIM:616489

The table below shows human diseases predicted to be associated to Igf2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature	Intrauterine growth retardation, Short stature	OMIM:135950
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal heart morphology, Upper limb phocomelia, Atypical scarring of skin, Abnormal...	ORPHA:294975
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome	Intrauterine growth retardation, Short stature	ORPHA:436144
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Small placenta, Abn...	ORPHA:439167
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone morphology, Limb ...	ORPHA:2204
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,...	ORPHA:1263
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Bowing of the long bones, Cataract, Rhizomelia, Ventricular septal defect, Proximal ...	ORPHA:93267
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Microcornea, Atrial septal defect,...	OMIM:201000
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly...	ORPHA:166277
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal...	ORPHA:254534
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Reduce...	OMIM:619795
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Thickened nuchal skin fold, Epicanthus, Ulnar deviation of the hand, Telecanthus, Co...	OMIM:263210
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl...	ORPHA:2501
Greenberg Dysplasia	Micromelia, Beaded ribs, Polyhydramnios, Hydrops fetalis, Tetraphocomelia, Hypoplastic vertebral ...	OMIM:215140
Pseudodiastrophic Dysplasia	Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equino...	ORPHA:85174
Kagami-Ogata Syndrome	Omphalocele, Atrial septal defect, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Dias...	OMIM:608149
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral o...	ORPHA:2635
Fetal Encasement Syndrome	Omphalocele, Decreased fetal movement, Congenital diaphragmatic hernia, Upper limb undergrowth, H...	OMIM:613630
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis...	ORPHA:970
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Short stature, Bowing of the legs, Reduced bone mineral density, Delayed o...	OMIM:617974
Fibrochondrogenesis 1	Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi...	OMIM:228520
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short...	OMIM:617022
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Polyhydramn...	ORPHA:1692
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Omphalocele, Epicanthus, Inguinal hernia, Overlapping toe, Single transverse palmar cre...	ORPHA:254528
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e...	OMIM:265900
Triploidy	Omphalocele, Finger syndactyly, Hepatomegaly, Cataract, Hypoplasia of penis, Hypospadias, Polyhyd...	ORPHA:3376
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru...	ORPHA:2141
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplas...	ORPHA:2092
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Congenital...	ORPHA:887
Miller-Dieker Syndrome	Omphalocele, Sacral dimple, Epicanthus, Polyhydramnios, Clinodactyly of the 5th finger, Nephropathy	ORPHA:531
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones ...	ORPHA:371428
Grant Syndrome	Bowing of the long bones, Short stature, Decreased skull ossification, Joint hyperflexibility, Ab...	ORPHA:2097
Autosomal Recessive Primary Microcephaly	Growth delay, Abnormal cortical bone morphology, Short stature	ORPHA:2512
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Bowing of the legs, Short neck, Short palm, Neonatal death, Patent foramen ovale,...	OMIM:269860
C Syndrome	Omphalocele, Hepatomegaly, Short metacarpal, Toe syndactyly, Ventricular septal defect, Epicanthu...	OMIM:211750
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Mesenteric cyst, Omphalocele, Overlapping toe, Ventricular septal defect, Parachute mit...	OMIM:618316
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Postnatal growth retardation, Severe postnatal growth retardation, Severe intraute...	ORPHA:73272
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Short stature, Arachnodactyly, Decreased fibular diameter, Postnatal growth...	OMIM:619489
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Polyhydramnios, Short neck, Flexion contracture, Hemivertebrae, ...	ORPHA:96334
Distal Duplication 15Q	Omphalocele, Arachnodactyly, Camptodactyly of finger, Short neck, Cryptorchidism, Blepharophimosi...	ORPHA:1707
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Omphalocele, Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hy...	OMIM:264480
3Mc Syndrome 1	Conjunctival telangiectasia, Synophrys, Atrial septal defect, Clinodactyly of the 5th finger, Spi...	OMIM:257920
Cranio-Osteoarthropathy	Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger...	ORPHA:1525
Melnick-Needles Syndrome	Omphalocele, Bowing of the long bones, Coxa valga, Hip dislocation, Abnormal rib morphology, Cone...	ORPHA:2484
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Premature birth, Congenital diaphragmatic hernia, Missing ribs, Short neck, Abnormal...	ORPHA:1834
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synostosis of carpa...	ORPHA:90652
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:600081
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Splenomegaly...	ORPHA:3035
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca...	OMIM:619638
Mosaic Trisomy 16	Syndactyly, Ventricular septal defect, Single transverse palmar crease, Maternal diabetes, Hyposp...	ORPHA:1708
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Short neck, Asplenia, Clinodactyly, Iris coloboma, A...	OMIM:249000
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Atrial septal defect, At...	OMIM:600373
Chromosome 9P Deletion Syndrome	Short neck, Atrial septal defect, Micropenis, Long toe, Hypospadias, Highly arched eyebrow, Taper...	OMIM:158170
Trisomy 1Q	Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finge...	ORPHA:261344
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip...	ORPHA:1486
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor...	OMIM:311300
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Short femur, Ventricular septal defect, Anterior encephalocele, Coloboma, Foot oligo...	OMIM:601357
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly...	OMIM:615996
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplasti...	OMIM:617895
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Bilateral cryptorchidism, Short neck, Ectopic kidney, Flexion contract...	OMIM:263650
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Decreased fetal movement, Epicanthus, Cataract, Sacral dimple, Single transverse pal...	OMIM:247200
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Ureteral duplication, Congenital hip dislocation, Hypoplasia of penis, Conge...	ORPHA:373
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Short stature, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed ...	OMIM:300554
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Silver-Russell Syndrome Due To A Point Mutation	Postnatal growth retardation, Intrauterine growth retardation, Small placenta, Oligohydramnios	ORPHA:397590
Trichohepatoenteric Syndrome 1	Polyhydramnios, Hepatic fibrosis, Hepatomegaly, Hypospadias, Abnormality of the pancreas, Abnorma...	OMIM:222470
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Urethral obstr...	OMIM:601389
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Restrictive Dermopathy 1	Ureteral duplication, Spontaneous chorioamniotic separation, Adrenal hypoplasia, Polyhydramnios, ...	OMIM:275210
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Atrial flutter, Overriding aorta, Ventricular septal defect, Epicanthus, Telecanthus...	OMIM:601927
Chromosome 10Q26 Deletion Syndrome	Omphalocele, Atrial septal defect, Scapular winging, Congenital hip dislocation, Toe syndactyly, ...	OMIM:609625
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Ck Syndrome	Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility	OMIM:300831
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, Umbilical h...	ORPHA:2143
Bardet-Biedl Syndrome 5	Syndactyly, Hypogonadism, Polydactyly, Micropenis, Brachydactyly	OMIM:615983
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:241530
Pentalogy Of Cantrell	Omphalocele, Absent gallbladder, Encephalocele, Ventricular septal defect, Abnormal pericardium m...	ORPHA:1335
Meckel Syndrome, Type 2	Omphalocele, Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An...	OMIM:603194
Short Stature, Brussels Type	Growth delay, Delayed epiphyseal ossification, Short stature, Calcification of cartilage	ORPHA:2867
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Premature birth, Hepatoblastoma, Kyphoscoliosis, Short neck, Coxa v...	ORPHA:254519
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Trisomy 18	Congenital diaphragmatic hernia, Microcornea, Hernia, Atrial septal defect, Iris coloboma, Bilate...	ORPHA:3380
Trigonocephaly 1	Omphalocele, Epicanthus, Synophrys, Long penis, Upslanted palpebral fissure, Lumbar hemivertebrae	OMIM:190440
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Congenital hip dislocation, Increased T3/T4 ratio, Congenital hypothyroidism, Impair...	OMIM:614450
Donnai-Barrow Syndrome	Omphalocele, Cataract, Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, N...	OMIM:222448
Teebi Hypertelorism Syndrome 1	Omphalocele, Ventricular septal defect, Highly arched eyebrow, Bilateral ptosis, Small hand, Broa...	OMIM:145420
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Bardet-Biedl Syndrome 10	Hypogonadism, Renal insufficiency, Polydactyly, Renal cyst	OMIM:615987
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransp...	OMIM:306955
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Short neck, Vesicoureteral reflux, Micropenis, Patent foramen ovale, Sho...	OMIM:616894
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex	OMIM:176920
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos...	OMIM:614815
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration,...	OMIM:275100
Omphalocele	Omphalocele, Premature birth	ORPHA:660
Restrictive Dermopathy	Ureteral duplication, Multiple joint contractures, Premature delivery because of cervical insuffi...	ORPHA:1662
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp...	ORPHA:73
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Cryptorchidism, Postaxial hand pol...	ORPHA:65759
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Synophrys, Camptodactyly of toe...	OMIM:300280
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ...	ORPHA:2021
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:264700
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:277440
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Broad hallux, Sandal gap, Bicuspid aortic valve, Mesomelia, Long eye...	OMIM:618529
Bardet-Biedl Syndrome 11	Hypogonadism, Polydactyly	OMIM:615988
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Tibial bowing, Femor...	OMIM:304120
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Alg9-Cdg	Short neck, Hydrops fetalis, Right ventricular dilatation, Narrow greater sciatic notch, Abnormal...	ORPHA:79328
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Dent Disease 1	Bulging epiphyses, Short stature, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed ...	OMIM:300009
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula...	OMIM:112350
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Renal cyst, Microphallus, Vesicour...	OMIM:618454
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ...	ORPHA:289157
Acalvaria	Omphalocele, Postaxial hand polydactyly, Spina bifida	ORPHA:945
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Epicanthus, Pancreatic fibrosis, Micromelia, Short neck, Postaxial han...	OMIM:200995
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th...	OMIM:601163
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses...	OMIM:309350
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Gro...	ORPHA:93324
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Omphalocele, Spina bifida, Cryptorchidism, Abnor...	ORPHA:1756
Constricting Bands, Congenital	Omphalocele, Syndactyly, Encephalocele, Eyelid coloboma, Hand polydactyly, Talipes equinovarus, S...	OMIM:217100
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar...	ORPHA:93323
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Polyhydramnios, Subchorionic...	ORPHA:116
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placem...	OMIM:229850
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Syno...	ORPHA:2162
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Postnatal growth retar...	OMIM:614732
Suleiman-El-Hattab Syndrome	Epicanthus, Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Highly a...	OMIM:618950
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Inguinal hernia, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial ha...	OMIM:175700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Encephalocele, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Sq...	OMIM:616300
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Hypospadias, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys...	OMIM:615761
Non-Syndromic Metopic Craniosynostosis	Omphalocele, Synophrys	ORPHA:3366
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ven...	OMIM:618142
Fetal Valproate Spectrum Disorder	Omphalocele, Epicanthus	ORPHA:1906
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Um...	OMIM:617952
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent ga...	ORPHA:3186
Cantu Syndrome	Ovoid vertebral bodies, Epicanthus, Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga...	OMIM:239850
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Preaxia...	OMIM:617927
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly	OMIM:615991
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, A...	OMIM:253000
Orofaciodigital Syndrome Xvii	Short neck, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central...	OMIM:617926
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Recurrent fractures, Postnatal growth retardation, 2-3 toe syndactyly, Joint hyperfle...	ORPHA:2324
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Epicanthus, Ventricular septal defect, Polydactyly, Hernia, Downslanted palpebral fis...	OMIM:602501
Meckel Syndrome, Type 10	Occipital encephalocele, Epicanthus, Ulnar deviation of the hand, Sacral dimple, Hypospadias, Pos...	OMIM:614175
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, Ri...	OMIM:307800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Micromelia, Hydrops fetalis, Renal cyst, Hepatic fibrosis, Syndactyly, Hypospadias, Renal hypopla...	OMIM:614091
Marshall-Smith Syndrome	Thoracic scoliosis, Bilateral cryptorchidism, Synophrys, Distal widening of metacarpals, Coxa var...	OMIM:602535
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Epicanthus, Abnormal heart valve morphology, Ovoid verte...	ORPHA:1517
Fryns Syndrome	Omphalocele, Thickened nuchal skin fold, Multicystic kidney dysplasia, Corneal opacity, Hypospadi...	ORPHA:2059
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Omphalocele, Epicanthus, Single transverse palmar crease, Elevated circulating ...	OMIM:618419
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Short stature, Recurrent fra...	ORPHA:3206
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Abnormal heart morphology, Hip dysplasia, Vertebral segmentation defect, Polydact...	ORPHA:531151
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,...	ORPHA:289176
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Decreased beta-galactosidase activ...	OMIM:253010
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Intrauterine growth retardation	OMIM:619441
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Postnatal growth retardation, Clinodactyly of the 5th finger, Intraute...	OMIM:608747
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Infantile Sialic Acid Storage Disease	Hepatomegaly, Epicanthus, Premature birth, Cardiomegaly, Congestive heart failure, Splenomegaly, ...	OMIM:269920
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Short neck, Pericardial effusion, Anhydramnios, Polydacty...	OMIM:613885
Tarp Syndrome	Single transverse palmar crease, Premature rupture of membranes, Neonatal death, Atrial septal de...	OMIM:311900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Beaded ribs, Cardiomegaly, Short neck, Flexion contracture, Hydrops fetalis, Micr...	OMIM:616897
Bardet-Biedl Syndrome 16	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Polydactyly	OMIM:615993
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Cryptorchidi...	OMIM:130650
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Atrial septal defect, Multicystic kidney dysplasia, Epicanthus, Arachnodactyly, Vent...	OMIM:300373
Bardet-Biedl Syndrome 4	Syndactyly, Cryptorchidism, Renal cyst, Polydactyly, Hypogonadism, Brachydactyly	OMIM:615982
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Reduced bone mineral ...	OMIM:620210
Isolated Anencephaly	Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal di...	ORPHA:563609
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Sandal gap, Radial club hand, Short tibia, Hypoplasia of the radius, Shor...	ORPHA:1972
3C Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Short neck, Hemivertebrae, Abnormal tricuspid valve morp...	ORPHA:7
Congenital Sialidosis Type 2	Abnormal EKG, Hepatomegaly, Cataract, Corneal opacity, Inguinal hernia, Telangiectasia, Abnormal ...	ORPHA:93400
Mulibrey Nanism	Hepatomegaly, Single transverse palmar crease, Corneal dystrophy, Cardiomegaly, Congestive heart ...	OMIM:253250
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Clinodactyly	OMIM:615984
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Vesicouret...	OMIM:607323
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Abnormal cartilage collagen, Delayed epip...	OMIM:156550
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Maternal diabetes, Cryptorchidism, Abnormal sacrum morphology, Long...	ORPHA:1988
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Atrial septal defect, Ptosis, Ventricular septal defect, Highly a...	ORPHA:1519
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Polyuri...	OMIM:615994
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Posterior rib fusion, Ne...	OMIM:265380
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Polyhydramnios,...	ORPHA:2166
Spondyloepimetaphyseal Dysplasia, Missouri Type	Disproportionate short stature, Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femo...	ORPHA:93356
Peroxisome Biogenesis Disorder 12A (Zellweger)	Growth delay, Wide anterior fontanel, Abnormal cortical bone morphology, Short stature	OMIM:614886
Subaortic Stenosis-Short Stature Syndrome	Epicanthus, Inguinal hernia, Short neck, Kyphosis, Biliary tract abnormality, Membranous subvalvu...	ORPHA:3191
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Metaph...	OMIM:255800
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Thickened ribs, Heparan sulfate excretion in urine, Splenomegaly, ...	OMIM:252900
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Cataract, Spina bifida, Preaxial polydactyly, Scoliosis, Spina...	ORPHA:64754
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia st...	OMIM:305600
Charge Syndrome	Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, Polyhydra...	OMIM:214800
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis, Downslanted palpebral fissures, Postaxial pol...	OMIM:612913
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele	OMIM:258320
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Cranioectodermal Dysplasia 2	Unilateral ptosis, Cholangitis, Polyhydramnios, Short neck, Hydrops fetalis, Renal cyst, Atrial s...	OMIM:613610
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Ventricular septal defect, Polyhydramnios, Hematochezia, Hypoplasia of the thymus, I...	OMIM:243150
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Short stature, Rhizomelia, Micro...	OMIM:613848
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Ventricular septal defect, Hypospadias, Polyhydramnios, Preaxial h...	OMIM:236680
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ...	OMIM:620366
Alagille Syndrome	Corneal dystrophy, Abnormal pupil morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:52
Retinitis Pigmentosa 89	Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic...	OMIM:618955
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Cataract, Urinary excretion of sialylated oligosaccharides, Protei...	OMIM:256550
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Opitz Gbbb Syndrome	Omphalocele, Enlarged ovaries, Telecanthus, Ventricular septal defect, Hypospadias, Congenital di...	ORPHA:2745
Chromosome 3Pter-P25 Deletion Syndrome	Epicanthus, Sacral dimple, Overlapping toe, Postaxial polydactyly, Tapered finger, Highly arched ...	OMIM:613792
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Ventricular septal defect, Postaxial pol...	OMIM:614576
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Malformation of the hepatic ...	OMIM:607361
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo...	ORPHA:2311
3P25.3 Microdeletion Syndrome	Epicanthus, Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fi...	ORPHA:435638
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Bent Bone Dysplasia Syndrome 2	Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia, Micropenis...	OMIM:620076
Cloacal Exstrophy	Omphalocele, Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Abnormal tibia morph...	ORPHA:93929
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Inguinal hernia, Thickened ribs, Abnormal heart valve ...	OMIM:230500
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Short stature, Osteom...	ORPHA:249
Okamoto Syndrome	Ureteropelvic junction obstruction, Omphalocele, Ventricular septal defect, Urinary incontinence,...	ORPHA:2729
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ...	OMIM:184250
Nephronophthisis 15	Elevated hepatic transaminase, Polydactyly, Nephronophthisis	OMIM:614845
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Nonimmune hydrops feta...	OMIM:618052
Schisis Association	Omphalocele, Encephalocele, Premature birth, Congenital diaphragmatic hernia, Micromelia, Spina b...	ORPHA:63862
Developmental And Epileptic Encephalopathy 89	Omphalocele, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Upslanted palpebral fiss...	OMIM:619124
2Q31.1 Microdeletion Syndrome	Short neck, Abnormal tibia morphology, Synophrys, Coloboma, Vertebral segmentation defect, Short ...	ORPHA:251014
Pelger-Huet Anomaly	Ventricular septal defect, Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, U...	OMIM:169400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Epicanthus, Hypospadias, Cryptorchidism, Polydactyly, Intrauterine growth retardation, Hypoplasti...	OMIM:616910
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Metaphyseal widening, Megalocornea, Hepatomegaly, Thoracolumbar kyphoscoliosis, Spa...	OMIM:252500
20P13 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Highly arched eyebrow, Synophrys, Microcornea, Narrow palpebral f...	ORPHA:313781
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Ventricular septal defect, Polyhydramnios, Hepatitis, Hypoplasia of ...	ORPHA:436252
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Tapered finge...	OMIM:619721
Basal Cell Nevus Syndrome 1	Palmar pits, Hemivertebrae, Cardiac fibroma, Iris coloboma, Vertebral fusion, Spina bifida, Cardi...	OMIM:109400
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Neonatal death, Atrial septal defect, Absent eyebrow, Multicystic kidney dysplasia, Hypospadias, ...	OMIM:308205
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Postaxial polydactyly, Highly arched eyebrow, Cryptorchidism, Bilatera...	ORPHA:404440
Ruvalcaba Syndrome	Ptosis, Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia...	ORPHA:3121
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Hernia, Endocardial fibroelastosis, Hepato...	OMIM:607014
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Wide anterior fontanel, Ulnar bowing, Poorl...	OMIM:619135
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Syn...	OMIM:252920
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Pos...	OMIM:615986
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Metaphyseal widening...	OMIM:608940
Pachydermoperiostosis	Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ...	ORPHA:2796
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypospadias, Hypogonadism, Postaxial polydactyly	OMIM:615985
Neu-Laxova Syndrome 1	Micromelia, Short neck, Polyhydramnios, Fetal akinesia sequence, Calcaneovalgus deformity, Neonat...	OMIM:256520
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Short long bone, Polydactyly, Scoliosis, Hepatic cysts, Brachydac...	OMIM:613819
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Epicanthus, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Mi...	OMIM:617866
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia, Abnormality of the endocrine system, Cryptorchidism...	ORPHA:95706
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kyphosis, Knee flexion cont...	OMIM:603387
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Polyhydramnios, Cryptorchidism, Nephrocalcinosis, Short long bone, Horizon...	OMIM:615633
Pagod Syndrome	Omphalocele, Encephalocele, Multicystic kidney dysplasia, Sudden cardiac death, Congenital diaphr...	ORPHA:991
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Short neck, Vertebral segmentation defect, Abse...	OMIM:608022
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Epicanthus, Cataract, Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Preax...	ORPHA:93271
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Preaxial polydactyly, Coloboma, Hypogonadism, Delayed...	ORPHA:141333
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Broad ribs, Anterior wedging o...	OMIM:253200
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Polyhydramnios, Short neck, Fetal akinesia sequence, Congenital contracture, W...	OMIM:208150
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Short neck, Flattened epiphysis, Genu valg...	OMIM:607131
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Cholest...	OMIM:615415
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Cataract, Rhizomelia, Proteinuria, Supernumerary nipple, Short ili...	OMIM:614376
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Periportal fibrosis, Postaxial polydactyly	OMIM:213010
Microphthalmia, Isolated 4	Coloboma, Absent testis, Postaxial polydactyly	OMIM:613094
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx of finger, Genu varu...	ORPHA:221016
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ...	ORPHA:369929
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane...	OMIM:178110
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Severe short stature, Aplastic clavicle, Abnor...	ORPHA:2658
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Ventral hernia, Thoracic scoliosis, Inguinal hernia, Short neck, Cryptorchidism, B...	OMIM:618000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Conjunctivitis, Abnormal vertebral morphology, Absent eyebrow, Abnorm...	ORPHA:2273
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi...	ORPHA:1427
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Metaphyseal widening, Triangular shaped distal phalanges of the han...	ORPHA:73230
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Short stature...	ORPHA:221008
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Refsum Disease, Classic	Short fourth metatarsal, Cataract, Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Co...	OMIM:266500
Joubert Syndrome 7	Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,...	OMIM:611560
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac...	OMIM:602782
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Multicystic kidney dysplasia, Hydroureter, Polyhydramnios, Neoplasm of the heart, Cr...	ORPHA:2241
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Joubert Syndrome 10	Epicanthus, Downslanted palpebral fissures, Postaxial polydactyly	OMIM:300804
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent r...	OMIM:314390
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Hand monodact...	OMIM:609945
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Short neck, Dela...	OMIM:613320
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:223800
Cardiac-Valvular Ehlers-Danlos Syndrome	Calcaneovalgus deformity, Absent phalangeal crease, Atrial septal defect, Tricuspid regurgitation...	ORPHA:230851
Joubert Syndrome 16	Encephalocele, Renal cyst, Coloboma, Polydactyly, Nephronophthisis	OMIM:614465
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Oligohydramnios, Cardi...	OMIM:617713
Neurooculocardiogenitourinary Syndrome	Epicanthus, Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorch...	OMIM:618652
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ...	ORPHA:485
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Multiple pterygia, Abnormal eyelid morphology, Symphalangism affecting the p...	ORPHA:2990
Esophageal Atresia	Omphalocele, Ventricular septal defect, Maternal diabetes, Polyhydramnios, Coloboma, Absence of s...	ORPHA:1199
Myhre Syndrome	Epispadias, Short palm, Large iliac wing, Abnormal penis morphology, Hypospadias, Femoral hernia,...	ORPHA:2588
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia, Oligohydramnios	OMIM:615397
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy...	OMIM:265000
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Inguinal hernia, Portal hypertension, Situs inversus totalis, Pancr...	OMIM:267010
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Short neck, Sparse eyebrow, Kyphos...	OMIM:302960
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o...	OMIM:166210
Scarf Syndrome	Epicanthus, Inguinal hernia, Diastasis recti, Short neck, Cryptorchidism, Hepatocellular adenoma,...	ORPHA:3134
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Broad ulna, Aplastic ane...	ORPHA:2909
Desbuquois Dysplasia 2	Joint laxity, Epiphyseal dysplasia, Short metacarpal, Severe short stature, Monkey wrench femoral...	OMIM:615777
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Postaxial polydactyly, Polyhydramnios...	OMIM:615503
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Ablepharon, Toe syndactyly, Corneal opacity, Camptodactyly of finger...	ORPHA:920
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Epicanthus, Streak ovary, Hypospadias, Kyphoscoliosis, Cryptorchidism, M...	OMIM:618820
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short palm, Short metacarpal, Single interphalangeal crease of fifth finger, Postnatal growth ret...	OMIM:611717
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Short metacarpal, Toe syndactyly, Hypoplasia of eyelid, Ablepharo...	OMIM:200110
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Chorioretinal coloboma, Nephropathy, Abnormality of the hypothalamus-pit...	ORPHA:1454
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly, Telecanthus	OMIM:300484
Silver-Russell Syndrome Due To 11P15 Microduplication	Short stature, Postnatal growth retardation, Umbilical hernia, Severe intrauterine growth retarda...	ORPHA:231144
Frank-Ter Haar Syndrome	Osteopenia, Short palm, Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, Os...	OMIM:249420
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Inguinal hernia, Corneal opacity, Short neck, Metat...	ORPHA:584
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Short metatarsal...	OMIM:617102
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Splenomegaly, Sea-blue histiocytosis, Limb undergrowth, Thin bony co...	OMIM:230600
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Joubert Syndrome 37	Hepatomegaly, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidism, Hydronephrosis, Microp...	OMIM:619185
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Femoral bo...	OMIM:602111
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Flexion...	OMIM:210710
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab...	ORPHA:860
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Shoulder disloc...	OMIM:245600
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Ventricular tachy...	OMIM:601005
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Tricuspid regurgitation, Postaxial polydactyly, Highly arche...	OMIM:618460
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Absent penis, Vesicoureteral reflux, Bladder exstrophy, Spina b...	ORPHA:322
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, Ectopic kid...	OMIM:122470
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Growth delay, Osteopetrosis, A...	OMIM:612301
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial n...	OMIM:616629
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Hypogonadism, Polydactyly	OMIM:617119
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Cardiomegaly, Knee flexion contracture, Macrovesicular hepatic steatosis, A...	OMIM:608836
Bardet-Biedl Syndrome 1	Decreased testicular size, Syndactyly, Diabetes mellitus, Cataract, Postaxial polydactyly, Nephro...	OMIM:209900
Joubert Syndrome 14	Encephalocele, Epicanthus, Ventricular septal defect, Postaxial polydactyly, Highly arched eyebro...	OMIM:614424
C Syndrome	Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Epicanthus, Sacral dimple, Micromelia,...	ORPHA:1308
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Car...	ORPHA:158687
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial...	OMIM:619879
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Ectropion of lower eyelids, Pineal cyst, E...	OMIM:615873
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Clinodactyly of the 5th f...	ORPHA:464306
3Mc Syndrome 3	Sacral dimple, Corneal opacity, Diastasis recti, Highly arched eyebrow, Cryptorchidism, Epicanthu...	OMIM:248340
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Telecanthus, Duplication of thumb phalanx, Tarsal synostosis, Short...	ORPHA:2756
Weill-Marchesani Syndrome 1	Short stature, Proportionate short stature, Joint stiffness, Broad metatarsal, Broad phalanges of...	OMIM:277600
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Cataract, Primary adrenal insufficiency, Abnormal circul...	ORPHA:3453
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Microcornea, Eyelid coloboma, Iris coloboma, L...	ORPHA:2308
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Vertebral segmentation defect, Abnormal tricuspid valve morpholo...	ORPHA:1507
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Talipes equinovarus, Int...	OMIM:616603
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Toe syndactyly, Cataract, Inguinal hernia, Cryptorchidism, Vesi...	ORPHA:250989
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Polydactyly, Diastasis recti, Upper limb asymmetry	ORPHA:231140
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Sacral dimple, Cataract, Abnormality of thyroid physiology, Postaxial polydactyly, Tapered finger...	OMIM:300968
Cone-Rod Dystrophy 16	Cataract, Postaxial polydactyly	OMIM:614500
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Polyhydramnios, Renal cyst, Vertebral segmentation defect, Narro...	OMIM:312870
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Polyhydramnios, Secundum atrial septal defect, Primum atrial septa...	OMIM:619534
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve...	OMIM:618143
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Inguinal hernia, Portal vein thrombosis, Hypersplenism, Splenomegaly, ...	OMIM:616028
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro...	ORPHA:268261
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Congenital diaphragmatic hernia, Sho...	OMIM:601803
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Del...	ORPHA:1652
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Epicanthus, Postaxial polydactyly, Polyhydramnios, Splenomegaly, Postaxial hand pol...	OMIM:617088
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Congenital diaphragmatic hernia...	OMIM:616546
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Hydroureter, Cr...	OMIM:258040
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas...	ORPHA:2769
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Hypospadias, Congenital diaphragmatic hernia, Anencephaly, Transposi...	OMIM:313850
Iniencephaly	Omphalocele, Encephalocele, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Hype...	ORPHA:63259
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac...	ORPHA:93315
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Monosomy 9Q22.3	Epicanthus, Ovarian fibroma, Cataract, Short neck, Palmar pits, Kyphosis, Abnormal rib morphology...	ORPHA:77301
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Long fingers, Osteop...	OMIM:309583
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val...	OMIM:618150
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Post...	OMIM:619471
Mend Syndrome	Sacral dimple, Cataract, Overlapping toe, Broad hallux, Crossed fused renal ectopia, Long fingers...	OMIM:300960
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Elevated jugular venous pressure, Diabetes mellitu...	ORPHA:465508
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Asplenia, Patent foramen ovale, Synostos...	ORPHA:221120
Bladder Exstrophy	Omphalocele, Hypoplasia of penis, Inguinal hernia, Epispadias, Abnormality of the ureter, Vesicou...	ORPHA:93930
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Osteogenesis Imperfecta	Osteopenia, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal ...	ORPHA:666
Spondyloocular Syndrome	Osteopenia, Long toe, Arachnodactyly, Short stature, Femur fracture, Overlapping toe, Long finger...	OMIM:605822
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Cardiomegaly, Synophrys, Abnorm...	ORPHA:2463
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Maternal diabetes, Hemivertebrae, Micropenis, Dy...	OMIM:134780
Orofaciodigital Syndrome V	Unilateral ptosis, Sandal gap, Ventricular septal defect, Postaxial polydactyly, Unilateral crypt...	OMIM:174300
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology,...	ORPHA:324410
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Epicanthus, Postaxial polydactyly, Cryptorchidism, Synophrys, Breech presentation, Proximal renal...	OMIM:615824
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Tarp Syndrome	Finger syndactyly, Thick eyebrow, Single transverse palmar crease, Rocker bottom foot, Postaxial ...	ORPHA:2886
Pallister-Hall Syndrome	Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Hemivertebrae, Atrial septal defect,...	ORPHA:672
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Scoliosis, Deviati...	OMIM:616362
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachyc...	OMIM:614921
Hajdu-Cheney Syndrome	Short neck, Synophrys, Renal cyst, Iris coloboma, Dislocated radial head, Hypospadias, Cryptorchi...	OMIM:102500
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Premature thelarche, Polyhydramnios, Bilateral cryptorchidism, F...	OMIM:180849
Rabson-Mendenhall Syndrome	Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Ventricular septa...	ORPHA:769
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Orofaciodigital Syndrome I	Syndactyly, Epicanthus, Telecanthus, Proteinuria, Pancreatic cysts, Myelomeningocele, Abnormal he...	OMIM:311200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Tibial bowing, Spina bifida occulta, Long hallux, Multicystic kidney dysplasia, Large hands, Abno...	ORPHA:500095
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,...	OMIM:230000
Weill-Marchesani Syndrome 2	Short metacarpal, Short stature, Proportionate short stature, Joint stiffness, Broad metatarsal, ...	OMIM:608328
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Severe short stature, Recurrent fractures, O...	OMIM:231070
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Hydrocele testis, Slender long bone, Increased serum testosterone level, Intraut...	ORPHA:96181
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr...	OMIM:619142
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Broad eyebrow, Ulnar deviation of the hand, Ventricular septal def...	OMIM:620113
Fucosidosis	Hepatomegaly, Corneal opacity, Lipoatrophy, Cardiomegaly, Kyphosis, Abnormality of the gallbladde...	ORPHA:349
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Short stature, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Scl...	OMIM:619727
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Micropenis, Dupl...	OMIM:268310
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly, Coloboma, Nephronophthisis, Micropenis	OMIM:614464
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De...	ORPHA:90793
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Hypertension, Increased ...	OMIM:219080
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Telecanthus, Abnormal heart morphology, Polydactyly, Downslanted palpebral fissures, Sparse later...	ORPHA:314655
Joubert Syndrome 20	4-5 toe syndactyly, Renal cyst, Postaxial polydactyly	OMIM:614970
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Postnatal growth retardation, Capitate-hamate fusion, 2-3 toe cutaneo...	OMIM:206920
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Ectropion of lower eyelids...	OMIM:614976
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Recurrent fractures,...	ORPHA:140
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Renal hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Au-Kline Syndrome	Vertebral segmentation defect, Shallow orbits, Vesicoureteral reflux, Clinodactyly of the 5th fin...	OMIM:616580
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Premature birth, Postaxial polydactyly, Polyhydra...	OMIM:219730
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Short stature, Postnatal growth retardation, Thrombocytopen...	OMIM:612199
Fraser Syndrome	Omphalocele, Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Hypoplasia of penis...	ORPHA:2052
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Proximal femoral metaphyseal irregularity, Early ossification of capital...	ORPHA:397715
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Stuve-Wiedemann Syndrome 1	Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Sh...	OMIM:601559
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra...	OMIM:300106
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Colonic Atresia	Omphalocele, Abnormal mesentery morphology, Abdominal situs inversus, Gastroschisis	ORPHA:1198
Hunter-Macdonald Syndrome	Bicuspid aortic valve, Pseudoepiphyses, Clinodactyly of the 5th finger, Hypospadias, 2-3 toe synd...	OMIM:611962
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Atrial septal defect, Thoracolumbar scoliosis, Tapered finger, Abnorm...	ORPHA:480880
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ...	ORPHA:93325
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Renal cyst, Vertebral segmentation defect, Clinodactyly of the 5th finger,...	OMIM:272460
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Short neck, Complete atrioventricular canal defect, Pr...	OMIM:617925
Scarf Syndrome	Thickened nuchal skin fold, Epicanthus, Inguinal hernia, Diastasis recti, Short neck, Cryptorchid...	OMIM:312830
Degcags Syndrome	Polyhydramnios, Synophrys, Bilateral renal hypoplasia, Atrial septal defect, Intrauterine growth ...	OMIM:619488
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Congenital pulmonary air...	OMIM:611812
Adnp Syndrome	Inguinal hernia, Broad hallux, Single transverse palmar crease, Sandal gap, Urinary incontinence,...	ORPHA:404448
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Epicanthus, Highly arched eyebrow, Bilateral cryptorchidism, C...	ORPHA:2754
Legius Syndrome	Cataract, Paroxysmal atrial tachycardia, Nephrolithiasis, Mitral valve prolapse, Diaphyseal dyspl...	ORPHA:137605
Orofaciodigital Syndrome Iv	Epicanthus, Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short fing...	OMIM:258860
Septooptic Dysplasia	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Polydactyly...	OMIM:182230
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short ...	OMIM:614294
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Joubert Syndrome 40	Almond-shaped palpebral fissure, Postaxial polydactyly	OMIM:619582
Joubert Syndrome 23	Coloboma, Polydactyly	OMIM:616490
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan...	OMIM:600001
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Doors Syndrome	Adrenal hyperplasia, Abnormal placental membrane morphology, Polyhydramnios, Abnormal finger morp...	ORPHA:79500
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Abnormal bone ossification, ...	ORPHA:175
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Inguinal hernia, Tricuspid regurgitation, Abnormal size of the palpebral fissures, Camptodactyly ...	ORPHA:1101
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Coloboma, Atri...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Coloboma, Atri...	ORPHA:353277
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachu...	OMIM:192350
Senior-Loken Syndrome 8	Global glomerulosclerosis, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Polyd...	OMIM:616307
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Telecanthus, Encephalocele, Remnants of the hyaloi...	OMIM:603671
Mogs-Cdg	Hepatomegaly, Thoracic scoliosis, Short palpebral fissure, Polyhydramnios, Cardiomegaly, Hepatosp...	ORPHA:79330
Catel-Manzke Syndrome	Single transverse palmar crease, Short neck, Clinodactyly of the 5th finger, Short metacarpal, Ov...	OMIM:616145
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension	OMIM:201910
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Severe short stature, Short stature, Thickened cortex of long bon...	OMIM:127000
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex	OMIM:612731
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, I...	OMIM:618838
Bardet-Biedl Syndrome 6	Syndactyly, Diabetes mellitus, Hypospadias, Postaxial polydactyly, Renal cyst	OMIM:605231
Kinsship Syndrome	Sacral dimple, Single transverse palmar crease, Coxa valga, Short neck, Synophrys, Hip dislocatio...	OMIM:619297
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increased circulating...	ORPHA:90791
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Short humerus, Hepatic steatosis, Short femur, Hepatomegaly, Hypos...	ORPHA:17
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased...	ORPHA:189427
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Cardi...	ORPHA:3472
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m...	OMIM:181450
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly, Iris coloboma, Retinal coloboma, Chorioretinal coloboma	ORPHA:2921
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Cataract, Hypoplastic right heart, Entropio...	OMIM:617403
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Hypertension, Increased circulatin...	OMIM:615830
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma...	ORPHA:555874
Stromme Syndrome	Accessory spleen, Cataract, Sclerocornea, Bilateral renal hypoplasia, Preaxial polydactyly, Micro...	OMIM:243605
Laurence-Moon Syndrome	Micropenis, Polydactyly, Abnormality of the hand	OMIM:245800
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Clinodact...	ORPHA:3103
Shprintzen Omphalocele Syndrome	Omphalocele, Epicanthus, Lumbar hyperlordosis, Kyphosis, Single umbilical artery, Scoliosis	OMIM:182210
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Cataract, Epicanthus, Hypospadias, Short neck, Cryptorchidism, Rena...	OMIM:257300
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Manitoba Oculotrichoanal Syndrome	Omphalocele, Eyelid coloboma, Nasolacrimal duct obstruction, Cryptophthalmos	OMIM:248450
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri...	OMIM:300855
Neurocardiofaciodigital Syndrome	Syndactyly, Cataract, Sclerocornea, Sparse eyebrow, Vesicoureteral reflux, Narrow palpebral fissu...	OMIM:619869
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat...	OMIM:103900
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Short neck, Ectopic kidney, Dermatoglyphic ridges a...	ORPHA:99413
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Short neck, Ectopic kidney, Dermatoglyphic ridges a...	ORPHA:881
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Short neck, Ectopic kidney, Dermatoglyphic ridges a...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Short neck, Ectopic kidney, Dermatoglyphic ridges a...	ORPHA:99226
Bardet-Biedl Syndrome 12	Hydroureter, Abdominal mass, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephros...	OMIM:615989
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly	ORPHA:544254
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conjunctivitis...	OMIM:149730
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele, Telecanthus, Abnormal eyelash morphology, Scoliosis, Downslanted palpebral fissures,...	ORPHA:3164
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Telecanthus, Single tra...	OMIM:303600
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib...	OMIM:114290
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Short stature, Rickets, Reduced bone mineral density, Ane...	OMIM:613658
Joubert Syndrome 39	Occipital encephalocele, Postaxial polydactyly, Hypoplastic left heart, Joint contracture of the ...	OMIM:619562
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bones, Broad f...	ORPHA:488434
Right Atrial Isomerism	Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Situs inversus ...	OMIM:208530
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Atelosteogenesis, Type I	Encephalocele, Short humerus, Short metacarpal, Radial bowing, Rhizomelia, Club-shaped proximal f...	OMIM:108720
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Coloboma, Vertebral segmentation defect, Shallow orbits, Vesicoureteral re...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Coloboma, Vertebral segmentation defect, Shallow orbits, Vesicoureteral re...	ORPHA:352665
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow...	OMIM:211350
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST...	OMIM:261740
Joubert Syndrome 27	Polydactyly	OMIM:617120
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of...	OMIM:143095
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo...	OMIM:269150
Holoprosencephaly 7	Omphalocele, Synophrys, Upslanted palpebral fissure, Shallow orbits, Occipital meningocele, Panhy...	OMIM:610828
Isolated Hemihyperplasia	Cryptorchidism, Inguinal hernia, Myelomeningocele, Scoliosis	ORPHA:2128
Cranioectodermal Dysplasia 3	Telecanthus, Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyl...	OMIM:614099
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver...	OMIM:271520
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Hepatomegaly, Downslanted palpebral fissures, Preaxial polydactyly	ORPHA:163681
Proteasome-Associated Autoinflammatory Syndrome 1	Cardiomegaly, Adipose tissue loss, Elevated circulating thyroid-stimulating hormone concentration...	OMIM:256040
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology, Lymphopenia, Anemia	ORPHA:935
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Tetraamelia Syndrome 1	Cataract, Congenital diaphragmatic hernia, Asplenia, Urethral atresia, Single umbilical artery, H...	OMIM:273395
Coffin-Siris Syndrome 1	Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Prominent inter...	OMIM:135900
Diphallia	Ureteral duplication, Inguinal hernia, Hypospadias, Distal urethral duplication, Absent thumb, Cr...	ORPHA:227
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Increased circulating dehy...	OMIM:201810
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Cardiac Valvular Dysplasia 1	Hydrops fetalis, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Pulmonic st...	OMIM:212093
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hyperaldosteronism, Decreased circul...	OMIM:613677
Silver-Russell Syndrome 3	Syndactyly, Short stature, Elbow contracture, Postnatal growth retardation, Small hand, Clinodact...	OMIM:616489
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased sus...	OMIM:259770
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Telecanthus, Broad hallux, Ventricular septal defect, Cryptorchidism, Po...	OMIM:615948
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Increased circulating ACTH l...	ORPHA:90790
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Aspartylglucosaminuria	Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Umbilical hernia, Abnormal...	ORPHA:93
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Elevated he...	OMIM:619991
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Ulbright-Hodes Syndrome	Maternal diabetes, Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morpholo...	ORPHA:3404
Mullegama-Klein-Martinez Syndrome	Curly eyelashes, Congenital diaphragmatic hernia, Hypoplastic left heart, Polydactyly, Apical mus...	OMIM:301022
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cryptorchidism...	OMIM:615849
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Single transverse palm...	OMIM:607932
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Broad hallux, Upper eyelid entropion, Postaxial polydactyly, Unilateral renal ag...	ORPHA:457284
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Kyphosi...	OMIM:617527
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Rhombencephalosynapsis	Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx	ORPHA:59315
Loeys-Dietz Syndrome 2	Syndactyly, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Bicuspid...	OMIM:610168
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow...	OMIM:600383
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long penis, Adrenogenita...	OMIM:202010
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Generalized Arterial Calcification Of Infancy	Adrenal calcification, Polyhydramnios, Cardiomegaly, Fetal distress, Hydrops fetalis, Abnormal ca...	ORPHA:51608
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele	ORPHA:2736
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Cerebrooculonasal Syndrome	Encephalocele, Epicanthus, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Postaxial han...	OMIM:605627
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis	ORPHA:2396
Singleton-Merten Syndrome 1	Ptosis, Hypoplastic distal radial epiphyses, Mitral valve calcification, Coxa valga, Cardiomegaly...	OMIM:182250
Retinitis Pigmentosa 74	Posterior polar cataract, Polydactyly	OMIM:616562
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Choanal Atresia	Polydactyly	ORPHA:137914

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 Igf2

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 Igf2.

No publications found that use IMPC mice or data for Igf2.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Igf2^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Igf2^{tm221084(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Igf2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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