Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
troponin T3, skeletal, fast
Synonyms:
fTnT,  skeletal muscle fast-twitch TnT

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Tnnt3 mutations

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

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

The table below shows human diseases associated to Tnnt3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Tnnt3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osseous Heteroplasia, Progressive
Ankylosis, Ectopic ossification in muscle tissue, Limb undergrowth OMIM:166350
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures, Neonata... OMIM:611369
Astley-Kendall Dysplasia
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia ORPHA:85175
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Disproportionate short-limb short stature, Obesity, ... ORPHA:174
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia OMIM:611263
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Arthralgia of the hip, Abnormal epiphysis morphology, ... ORPHA:166002
Langer Mesomelic Dysplasia
Severe short stature, Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Dispr... ORPHA:2632
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm... OMIM:249710
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ... OMIM:618728
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Greenberg Dysplasia
Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Micrognathia, Decreased skull ossifica... ORPHA:1426
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Limitation of joint mobility, Micromelia, Coxa vara, Short palm ORPHA:168555
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Micromelia, Osteoarthritis, Proportionate short stature ORPHA:93283
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ... ORPHA:1423
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Limitation of joint mobility, Micromelia, Abnormal epiphysis morpholo... ORPHA:2639
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Limb undergrowth, Abnormal limb bone morphology, Short stature... ORPHA:2204
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Disproportionate short-limb short stature, Limited elbow extension, Limb undergrowth, Short statu... ORPHA:156728
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Poorly ossif... ORPHA:1263
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Micromelia, Upper limb undergrowth, Abn... ORPHA:93351
Laron Syndrome
Severe short stature, Delayed menarche, Limb undergrowth, Short long bone OMIM:262500
Hypophosphatemic Bone Disease
Short stature, Bowing of the legs, Rickets, Osteomalacia OMIM:146350
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Postnatal growth retardation, Short middle phalanx of the 2nd fi... OMIM:614326
Osebold-Remondini Syndrome
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... OMIM:112910
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Short stature, Red... ORPHA:1508
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Childho... ORPHA:429
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Limitation of joint mobility, Abnormal epiphysis morphology, Growth delay, Epiphyseal... ORPHA:177
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o... ORPHA:2098
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Short toe, Genu valgum, Micrognathia, Limited elbow extension, Irregula... OMIM:614078
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Congestive heart failure OMIM:301021
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Disproportionate short-limb short stature, Genu valgum, S... ORPHA:1803
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of f... ORPHA:2928
Acromesomelic Dysplasia 2A
Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi... OMIM:200700
Silver-Russell Syndrome Due To 11P15 Microduplication
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Severe intraute... ORPHA:231144
Kyphomelic Dysplasia
Disproportionate short stature, Limitation of joint mobility, Micromelia, Joint stiffness, Microg... ORPHA:1801
Nievergelt Syndrome
Mesomelic short stature, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Metatarsus addu... OMIM:163400
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Severe short stature, Ulnar deviation of finger, Broad thumb, Micromelia, Joint stiffn... ORPHA:2249
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia ORPHA:1277
Achondrogenesis Type 2
Hypoplastic ilia, Micromelia, Absent vertebral body mineralization, Delayed pubic bone ossificati... ORPHA:93296
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Disproportionate short-limb short stature, Micromelia, Metaphyseal spurs, Irregular epiphyses, Sm... OMIM:608728
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Short Stature, Dauber-Argente Type
Osteopenia, Decreased fibular diameter, Postnatal growth retardation, Arachnodactyly, Long toe, L... OMIM:619489
Ophthalmomandibulomelic Dysplasia
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Limitation of joint mobi... ORPHA:2741
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Mesomelic short statur... OMIM:249700
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Growth delay, Fib... OMIM:600081
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Toe syndactyly, Elbow flexion contracture, Knee flexion contracture, Hip contracture,... OMIM:616809
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm... ORPHA:63446
Odontochondrodysplasia 1
Mesomelia, Metaphyseal cupping, Micromelia, Irregular epiphyses, Cone-shaped epiphyses of the pha... OMIM:184260
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Camptodactyly of finger, Abnormal hip bone morphology, Bowing of t... ORPHA:2631
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Disproportionate short-l... OMIM:127300
Metatropic Dysplasia
Severe short stature, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hyp... ORPHA:2635
Acromesomelic Dysplasia, Maroteaux Type
Disproportionate short stature, Joint stiffness, Joint hypermobility, Bowing of the long bones, B... ORPHA:40
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Small hand, Clinodactyly, Postnatal growth retardation, Obesity, Micrognathia, Intrauterine growt... ORPHA:254525
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Intrauterine growth retardation, Neonatal death, Death in adolescence, ... OMIM:619751
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Disproportionate short stature, Enlarged epiphyses of the phalanges of the hand, Hypoplastic ilia... OMIM:609616
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... ORPHA:1836
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath... OMIM:256050
Ruvalcaba Syndrome
Small hand, Micromelia, Limited elbow extension, Delayed puberty, Short foot, Short metatarsal, S... OMIM:180870
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca... ORPHA:2633
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Hip dislocation, Short thumb, Joint stiffness, Short meta... ORPHA:968
Diastrophic Dysplasia
Ulnar deviation of finger, Neonatal short-limb short stature, Hypoplastic cervical vertebrae, Mic... ORPHA:628
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... OMIM:300554
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Intrauterine growth retardation, Patellar aplasia, Radioul... OMIM:617604
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Microretrognathia, Recurrent fractures, Joint hypermobility, Decreased ca... OMIM:616229
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Disproportionate short stature, Synostosis of carpal bones, Micromelia... ORPHA:2634
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Growth delay, Hyp... OMIM:241530
Achondroplasia
Hip joint hypermobility, Rhizomelia, Disproportionate short stature, Obesity, Limited elbow exten... ORPHA:15
Osteogenesis Imperfecta, Type Ii
Abnormal pelvic girdle bone morphology, Disproportionate short-limb short stature, Broad long bon... OMIM:166210
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Disproportionate short-limb short stature, M... OMIM:602557
Terminal Osseous Dysplasia
Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Mul... OMIM:300244
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Neonatal short-limb short stature, Severe limb... OMIM:151210
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Disproportionate short stature, Limitation of joint mobility, Dumbbell-shap... ORPHA:1427
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Micromelia, C... ORPHA:474
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Rhabdomyolysis, Decreased liver function, Neonatal death OMIM:602199
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia ORPHA:291
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Abnormal epiphysis morphology, Failure to thrive, Abnormal diaphysis morphology, Micr... ORPHA:1842
Ollier Disease
Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal m... ORPHA:296
Odontochondrodysplasia
Cone-shaped epiphysis, Square pelvis bone, Micromelia, Joint hypermobility, Bowing of the long bo... ORPHA:166272
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Clinodactyly, Postnatal growth retardation, Obesity, Micrognathia, Intrauterine growt... ORPHA:254531
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Severe short stature, Fibular overgrowth, Abnormal epiphysis mor... ORPHA:93352
Insulin-Like Growth Factor I Deficiency
Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Decrease... OMIM:608747
Autosomal Recessive Omodysplasia
Rhizomelia, Micromelia, Micrognathia, Abnormal femur morphology, Abnormal morphology of the radiu... ORPHA:93329
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona... ORPHA:168549
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera... OMIM:601356
Image Syndrome
Intrauterine growth retardation, Micromelia, Metaphyseal dysplasia ORPHA:85173
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
Chondrodysplasia, Blomstrand Type
Micromelia, Flared metaphysis, Micrognathia, Short ribs, Generalized osteosclerosis, Advanced oss... OMIM:215045
Acrocephalopolydactyly
Limb undergrowth, Brachydactyly, Short long bone ORPHA:221054
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Bulgi... OMIM:264700
Infantile Systemic Hyalinosis
Severe short stature, Osteopenia, Failure to thrive, Micromelia, Camptodactyly of finger, Osteoma... ORPHA:2176
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Abnormal hip bone morphology, Recurrent fract... ORPHA:93160
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Bulgi... OMIM:277440
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Micromelia, Obesity, Genu valgum, Joint hypermobility, Arachnodactyly, Short stature ORPHA:1035
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi... OMIM:618961
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Postaxial polydactyly, Flat ace... OMIM:617102
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Autosomal Recessive Kenny-Caffey Syndrome
Small hand, Postnatal growth retardation, Intrauterine growth retardation, Decreased skull ossifi... ORPHA:93324
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Decreased fibular diameter, Intrauterine growth retardation, Micro... OMIM:616897
Mesomelia-Synostoses Syndrome
Synostosis of joints, Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal... ORPHA:2496
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Micrognathia, Genu valgum, Broad phalanx, Bilateral talipes equin... ORPHA:56304
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Severe postnatal growth retardation, Limb undergrowth, Severe intrauterine growth retard... ORPHA:319675
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Hypospadias, Death in childhood,... OMIM:619334
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Micromelia, Intrauterine growth retardation, Joint hyp... ORPHA:2772
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Micrognathia, Recurrent fractures, Tibial bowing, Congenital bilateral hip disloca... ORPHA:453510
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, Brachydactyly, Spli... ORPHA:2145
Achondrogenesis Type 1B
Severe short stature, Disproportionate short stature, Micromelia, Abnormal enchondral ossificatio... ORPHA:93298
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Fibular hypop... OMIM:164900
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Severe short stature, Joint contracture of the hand, Neonatal short-limb short stature, Limitatio... OMIM:224400
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Genu varum, Vertebral hypero... ORPHA:89936
Chondrodysplasia-Difference Of Sex Development Syndrome
Severe short stature, Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossific... ORPHA:1422
Hall-Riggs Syndrome
Abnormal epiphysis morphology, Failure to thrive, Joint stiffness, Limb undergrowth, Brachydactyl... ORPHA:2107
Schneckenbecken Dysplasia
Hypoplastic scapulae, Disproportionate short-limb short stature, Short ribs, Limb undergrowth, Du... OMIM:269250
ERI1-related disease
Osteopenia, Hip dislocation, Failure to thrive, Slender metacarpals, Oligodactyly, Intrauterine g... OMIM:608739
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Mesomelic leg shortening, Fibular aplasia, Limited elbow extension an... OMIM:605274
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Disproportionate short... ORPHA:85166
Achondrogenesis Type 1A
Severe short stature, Micromelia, Abnormal enchondral ossification, Micrognathia, Short foot, Rec... ORPHA:93299
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, Postaxial hand polydactyly... ORPHA:2491
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Achondrogenesis, Type Ib
Hypoplastic ilia, Neonatal short-limb short stature, Micromelia, Absent or minimally ossified ver... OMIM:600972
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Micrognathia, Diaphyseal undertubulation, Finger joint hypermobil... OMIM:620663
Dermatosparaxis Ehlers-Danlos Syndrome
Severe short stature, Osteopenia, Rickets, Osteomalacia, Joint stiffness, Micrognathia, Avascular... ORPHA:1901
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Fanconi Renotubular Syndrome 3
Short stature, Growth delay, Rickets, Bowing of the legs OMIM:615605
Hypercholanemia, Familial 1
Rickets, Failure to thrive OMIM:607748
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, ... OMIM:614732
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Failure to thrive, Growth delay OMIM:602722
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Lethal short-l... OMIM:187601
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Short thumb OMIM:609054
Hypertrichosis Cubiti
Severe short stature, Rhizomelia, Micromelia, Joint hypermobility ORPHA:2220
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Growth delay, Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Short stature, Reduced... ORPHA:157215
Meckel Syndrome, Type 9
Talipes equinovarus, Limb undergrowth OMIM:614209
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Osteo... ORPHA:289157
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Acrodysostosis
Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Short toe, Micromelia, Abnormal diaphysi... ORPHA:950
Renal Tubular Acidosis, Proximal
Short stature, Rickets, Osteomalacia OMIM:179830
Achondrogenesis
Severe short stature, Micromelia, Abnormal enchondral ossification, Micrognathia, Abnormality of ... ORPHA:932
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Joint hypermobility, Brachydactyly, M... OMIM:612813
Dyschondrosteosis-Nephritis Syndrome
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Intrauterine growth retardation, Mes... ORPHA:1765
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... OMIM:602418
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Hypoplastic ilia, Limitation of joint mobility, Micromelia, Clubbing of fin... ORPHA:1865
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Bowing of the legs, Rickets, Osteomalacia ORPHA:89937
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Metaphyseal dysplasia, Disproportionate short-limb short stature, Fem... OMIM:618019
C Syndrome
Ulnar deviation of finger, Toe syndactyly, Fused sternal ossification centers, Postaxial foot pol... OMIM:211750
Distal Deletion 17Q
Small hand, Deviation of finger, Micromelia, Abnormal hip bone morphology, Abnormal thumb morphol... ORPHA:1597
Thanatophoric Dysplasia
Abnormal ilium morphology, Disproportionate short-limb short stature, Micromelia, Joint stiffness... ORPHA:2655
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi... ORPHA:3121
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Micrognathia, Abnormal femur morpholog... ORPHA:3429
Multiple Osteochondromas
Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abnormal hand morp... ORPHA:321
Atelosteogenesis Type I
Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes equinovarus, Neo... ORPHA:1190
Acromesomelic Dysplasia 1
Acromesomelia, Disproportionate short-limb short stature, Radial bowing, Short toe, Flared metaph... OMIM:602875
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Hypophosphatasia, Infantile
Unossified vertebral bodies, Metaphyseal cupping, Disproportionate short-limb short stature, Fail... OMIM:241500
Schwartz-Jampel Syndrome, Type 1
Abnormal femoral epiphysis morphology, Congenital hip dislocation, Joint contracture of the hand,... OMIM:255800
Cholestasis, Progressive Familial Intrahepatic, 1
Short stature, Osteopenia, Rickets, Failure to thrive OMIM:211600
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes equinovarus, Aplasia/Hypoplasia of the ulna... OMIM:108720
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Limb undergrowth, Abnormal metaphysis morphology ORPHA:1861
Acromesomelic Dysplasia 4
Rhizomelia, Disproportionate short stature, Radial bowing, Short toe, Short finger, Sandal gap, B... OMIM:619636
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re... OMIM:210720
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, Short foot, Short met... OMIM:166250
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Fetal Encasement Syndrome
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Congenital diaphragmatic he... OMIM:613630
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Failure to thrive, Intrauterine growth retardation, Limb undergrowth, Joint contractu... OMIM:618005
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Disproportionate short-limb short stature, Short toe, Rhizo-meso... OMIM:611717
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Congenital diaphrag... OMIM:166300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Rickets, Failure to thrive OMIM:611590
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Joint hypermobility, Brachydactyly, Mesomelia ORPHA:171866
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Neonatal death OMIM:615524
4Q21 Microdeletion Syndrome
Small hand, Toe syndactyly, Micromelia, Intrauterine growth retardation, Short foot, Growth delay... ORPHA:238750
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Elevated circulating aspartate amin... OMIM:620300
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognathia, Short ribs, Postaxial hand ... OMIM:241800
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal telangiectasia ORPHA:438134
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... ORPHA:93333
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Abnormal tibia morphology, Abn... ORPHA:249
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Joint stiffness, Femoral bowing,... ORPHA:1860
3M Syndrome
Hypoplastic ischia, Congenital hip dislocation, Micromelia, Slender long bone, Intrauterine growt... ORPHA:2616
Kyphomelic Dysplasia
Disproportionate short stature, Limitation of joint mobility, Radial bowing, Micromelia, Flared m... OMIM:211350
Pycnodysostosis
Coronal craniosynostosis, Small hand, Rhizomelia, Disproportionate short-limb short stature, Acro... ORPHA:763
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Genu v... OMIM:618870
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility, Hypoplasia of the capital femoral epiphysis, Hy... OMIM:313400
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Micrognathi... OMIM:251230
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Flexion contracture, Limb undergrowth, Small for gestational age ORPHA:79243
Thanatophoric Dysplasia, Glasgow Variant
Micromelia OMIM:273680
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Osteomalacia, Short stature, Recurrent fractures OMIM:613388
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Decreased calvarial ... OMIM:617866
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Short foot, Hip dislocat... ORPHA:93357
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... OMIM:614091
Osteogenesis Imperfecta, Type X
Osteopenia, Rhizomelia, Micromelia, Micrognathia, Genu valgum, Fibular bowing, Tibial bowing, Joi... OMIM:613848
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac... ORPHA:1784
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Short toe, Postnatal growth retardation, Micrognathia, Joint hypermobility, Limb unde... OMIM:225410
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital diaph... OMIM:194080
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Thanatophoric Dysplasia Type 2
Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydactyly, Short stature, Abno... ORPHA:93274
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp... ORPHA:50945
Phocomelia, Schinzel Type
Finger aplasia, Disproportionate short stature, Radial bowing, Micromelia, Aplasia/Hypoplasia of ... ORPHA:2879
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Abnormal bone ossification, Diaphyseal undertubulation, Met... ORPHA:175
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mesomelia, Osteopenia, Rhizomelia, Disproportionate short-limb short stature, Small epiphyses, Ge... OMIM:271510
Cousin Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Mic... OMIM:260660
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Failure to thrive OMIM:560000
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... ORPHA:3258
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Micromelia, Camptodactyly of finger, Elbow flexion cont... ORPHA:3206
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone o... OMIM:618162
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteomalacia, Micrognathia, Abnormal metacarpal morphology, Large hands, Aplasia/hypoplasia of th... ORPHA:2636
Fanconi-Bickel Syndrome
Osteopenia, Rickets, Failure to thrive, Bowing of the long bones, Growth delay ORPHA:2088
Mesomelia-Synostoses Syndrome
Mesomelia, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Progressive forearm bowing,... OMIM:600383
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Dysostosis, Stanescu Type
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ... ORPHA:1798
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Hip dislo... OMIM:268305
Gm1-Gangliosidosis, Type Ii
Failure to thrive, Joint stiffness, Hypoplastic vertebral bodies, Limb undergrowth, Thin bony cor... OMIM:230600
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Micrognathia, Brac... OMIM:618529
Dpm1-Cdg
Failure to thrive, Sandal gap, Long hallux, Micrognathia, Knee flexion contracture, Limb undergro... ORPHA:79322
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Disproportionate short-limb short stature, Micromelia, Micrognathia, Bowing... OMIM:224410
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, Short metacarp... OMIM:271665
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Cystinosis
Short stature, Delayed puberty, Rickets, Failure to thrive ORPHA:213
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Abnormal fibula morphology, Short... ORPHA:198
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Abnormal epiphysis morphology, Micromelia, Hypoplastic iliac wing... ORPHA:2637
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Rickets, Failure to thrive ORPHA:79303
Celiac Disease, Susceptibility To, 1
Rickets, Failure to thrive, Postnatal growth retardation, Weight loss, Delayed puberty, Short sta... OMIM:212750
Slc39A8-Cdg
Osteopenia, Cutaneous syndactyly of toes, Disproportionate short-limb short stature, Elbow flexio... ORPHA:468699
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ... ORPHA:3003
Aminopterin/Methotrexate Embryofetopathy
Micromelia, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Aplasia/Hypoplasia ... ORPHA:1908
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Limited elbow movement, Limb undergrowth, Brachydactyly, Short stature, Sho... OMIM:617809
Developmental Malformations-Deafness-Dystonia Syndrome
Short stature, Hypoplastic scapulae, Femoral retroversion, Micromelia ORPHA:79107
Gm1 Gangliosidosis
Coarse metaphyseal trabecularization, Failure to thrive, Abnormal diaphysis morphology, Camptodac... ORPHA:354
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Congenital diaphragmatic he... ORPHA:139466
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Cardioacrofacial Dysplasia 2
Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Postaxial hand polydact... OMIM:619143
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Short ribs, Postaxial polydactyly, Brachydactyly, Hypoplasia of the... OMIM:617895
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Disproportionate short-limb short stature, Micromelia, Fi... ORPHA:3144
Neu-Laxova Syndrome
Osteopenia, Rickets, Micromelia, Osteomalacia, Intrauterine growth retardation, Micrognathia, Lar... ORPHA:2671
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Dent Disease
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae... ORPHA:1652
Fibrochondrogenesis
Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Short r... ORPHA:2021
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Fanconi Renotubular Syndrome 1
Short stature, Rickets, Osteomalacia OMIM:134600
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Micromelia, Broad hallux, Postnatal growth retardation, Brachydactyly, Short stature,... OMIM:614800
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Micrognathia, Patell... ORPHA:3103
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Broad thumb, Clinodactyly, Micrognathia, Partial duplication of t... OMIM:616331
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Large for gestational age, Rickets OMIM:616026
Desmosterolosis
Severe short stature, Micromelia, Failure to thrive, Intrauterine growth retardation, Micrognathi... ORPHA:35107
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Wide anterior fontanel, Micromelia, Crumpled long bones, Decreased calvar... OMIM:610682
Isolated Anencephaly
Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:563609
Schisis Association
Micromelia, Small for gestational age ORPHA:63862
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hip contracture, Bowing of th... OMIM:210710
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteomalacia, Weight loss, Osteoporosis, Growth delay ORPHA:309031
Spondyloenchondrodysplasia
Short distal phalanx of finger, Hypoplastic ilia, Limb undergrowth, Disproportionate short-trunk ... ORPHA:1855
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive OMIM:607765
Glutamine Deficiency, Congenital
Camptodactyly, Flexion contracture, Micromelia OMIM:610015
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Rickets, Recurrent fractures OMIM:268315
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Micromelia, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:600092
Fanconi-Bickel Syndrome
Postnatal growth retardation, Rickets, Failure to thrive, Osteomalacia OMIM:227810
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Micromelia ORPHA:64755
Microlissencephaly-Micromelia Syndrome
Adducted thumb, Micromelia, Failure to thrive, 11 pairs of ribs ORPHA:50810
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Postnatal growth re... ORPHA:96334
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short toe, Short finger, Intrauterine growth retardation, Bowing of the arm... OMIM:269860
Short Stature, Microcephaly, And Endocrine Dysfunction
Disproportionate short-limb short stature, Clinodactyly, Intrauterine growth retardation, Limb un... OMIM:616541
Kagami-Ogata Syndrome
Micrognathia, Limb undergrowth, Long fingers, Flexion contracture, Coxa valga OMIM:608149
Hypophosphatemic Rickets And Hyperparathyroidism
Short stature, Hypophosphatemic rickets, Rickets OMIM:612089
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... OMIM:268310
Campomelia, Cumming Type
Clubbing of toes, Micromelia, Bowing of the long bones, Brachydactyly, Abnormally ossified vertebrae ORPHA:1318
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Micrognathia, Genu valgum, Hip contracture, Decreased body we... ORPHA:800
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Hip dislocation, Syndacty... OMIM:146510
Osteogenesis Imperfecta
Abnormal tibia morphology, Micrognathia, Genu valgum, Decreased skull ossification, Bowing of the... ORPHA:666
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Matthew-Wood Syndrome
Renal hypoplasia, Horseshoe kidney, Intrauterine growth retardation, Vesicoureteral reflux, Conge... ORPHA:2470
Non-Syndromic Posterior Hypospadias
Urethral diverticulum, Congenital diaphragmatic hernia, Displacement of the urethral meatus, Micr... ORPHA:95706
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Disproportionate short stature, Femoral bowing, Tibial bowing, ... OMIM:616482
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Rickets, Failure to thrive, Camptodactyly of fing... OMIM:309000
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Rickets, Failure to thrive, Growth delay, Slender build, Intrauterine growth retardat... OMIM:613658
Mccune-Albright Syndrome
Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Abnormal femur morphology, Fibr... ORPHA:562
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Intrauteri... OMIM:263650
Distal Renal Tubular Acidosis
Rickets, Failure to thrive, Growth delay, Osteomalacia, Increased susceptibility to fractures, Sh... ORPHA:18
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long ... ORPHA:488434
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Neonatal short-limb short... ORPHA:289
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Intrauterine growth retardation, Abnormality of the gallbladder, Co... ORPHA:2075
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Intrauterine growth retardation, Congenital diaphragmatic her... OMIM:601186
Kinsship Syndrome
Osteopenia, Failure to thrive, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Short s... OMIM:619297
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Micrognathia, Fibular bowing, Tibial bowing, Postax... OMIM:612651
Radio-Renal Syndrome
Severe short stature, Micromelia, Micrognathia, Hypoplasia of the radius, Brachydactyly, Short palm ORPHA:3015
Raine Syndrome
Micromelia, Long hallux, Micrognathia, Bowing of the long bones, Subperiosteal bone formation, Br... OMIM:259775
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Palpitations, Mitral stenosis, Aplasia of the left hemidiaphragm ORPHA:2847
Leukocyte Adhesion Deficiency Type Ii
Failure to thrive, Intrauterine growth retardation, Overlapping toe, Limb undergrowth, Short stat... ORPHA:99843
Mosaic Trisomy 9
Limitation of joint mobility, Micromelia, Finger clinodactyly, Camptodactyly of finger, Intrauter... ORPHA:99776
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Postnatal growth retardation, Fibular aplasia, Micrognathia, Hu... ORPHA:3404
Tbck-Related Intellectual Disability Syndrome
Clinodactyly, 11 pairs of ribs, 2-3 toe syndactyly, Limb undergrowth, Broad toe, Osteoporosis, Br... ORPHA:488632
Cornelia De Lange Syndrome 1
Finger aplasia, Micromelia, Elbow flexion contracture, Hypoplastic radial head, Intrauterine grow... OMIM:122470
Cystinosis, Nephropathic
Rickets, Failure to thrive, Failure to thrive in infancy, Hypophosphatemic rickets, Genu valgum, ... OMIM:219800
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Severe short stature, Absent crus of helix, Finger syndactyly, F... ORPHA:2753
Hydrolethalus
Micrognathia, Micromelia, Postaxial hand polydactyly ORPHA:2189
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Intrauterine growth retardation, Congenital diaphragma... OMIM:611812
Developmental And Epileptic Encephalopathy 89
Talipes equinovarus, Flexion contracture, Microretrognathia, Limb undergrowth OMIM:619124
Chromosome 14Q11-Q22 Deletion Syndrome
Failure to thrive, Micrognathia, Proportionate short stature, Hip subluxation, Growth delay, Meso... OMIM:613457
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Brachydactyly, Camptodactyly, Short phalanx of finger, S... OMIM:616894
Infantile Nephropathic Cystinosis
Rickets, Failure to thrive, Growth delay ORPHA:411629
Oculocerebrorenal Syndrome Of Lowe
Hip dislocation, Abnormal epiphysis morphology, Failure to thrive, Osteomalacia, Joint stiffness,... ORPHA:534
Robinow Syndrome
Acromesomelia, Short distal phalanx of finger, Micrognathia, Missing ribs, Bifid distal phalanx o... ORPHA:97360
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial deviation ... OMIM:180700
Apert Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Micromelia, Cervical C5/C6 vertebrae fusion, Apla... ORPHA:87
Autosomal Recessive Robinow Syndrome
Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Br... ORPHA:1507
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Short 1st metacarpal, Failure to thrive, Micromelia, Oligodactyly, Jo... ORPHA:199
8Q24.3 Microdeletion Syndrome
Short 5th finger, Congenital hip dislocation, Infancy onset short-trunk short stature, Microretro... ORPHA:508488
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radia... OMIM:256520
Primary Fanconi Renotubular Syndrome
Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures, Weight loss, Growt... ORPHA:3337
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs... OMIM:263520
Smith-Lemli-Opitz Syndrome
2-3 toe cutaneous syndactyly, Hip dislocation, Microretrognathia, Postaxial foot polydactyly, Sho... OMIM:270400
Smith-Lemli-Opitz Syndrome
Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna... ORPHA:818
Autosomal Dominant Robinow Syndrome
Severe short stature, Finger syndactyly, Micromelia, Camptodactyly of finger, Avascular necrosis ... ORPHA:3107
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Micrognathia, Joint hypermobility, Polydactyly, Short ribs, Brachydacty... OMIM:613610
Hypomagnesemia 3, Renal
Rickets, Failure to thrive, Genu valgum, Short stature, Short metacarpal, Bowing of the legs OMIM:248250
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Micromelia, Postaxial hand polydactyly OMIM:200995
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs, Postaxial polydactyly OMIM:616546
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
C Syndrome
Toe syndactyly, Limitation of joint mobility, Micromelia, Failure to thrive in infancy, Micrognat... ORPHA:1308
Distal Arthrogryposis Type 1
Ulnar deviation of finger, Camptodactyly of finger, Joint stiffness, Overlapping fingers, Abnorma... ORPHA:1146
Pagod Syndrome
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Death in infancy, Renal hypoplasia... ORPHA:991
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Disproportionate short-limb short stature, Abnormal pelvis bone ossification, Micromelia, Preaxia... ORPHA:93271
Peters Plus Syndrome
Rhizomelia, Toe syndactyly, Disproportionate short-limb short stature, Short toe, Micromelia, Pos... ORPHA:709
Wilson Disease
Joint hypermobility, Osteoporosis, Osteoarthritis, Osteomalacia OMIM:277900
Thoracoabdominal Syndrome
Renal agenesis, Hypospadias, Congenital diaphragmatic hernia OMIM:313850
Generalized Arterial Calcification Of Infancy
Osteomalacia, Failure to thrive in infancy, Abnormal hip joint morphology, Hypophosphatemic ricke... ORPHA:51608
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Intrauterine growth retardation, Absent gallbladder, Congenital diaphragmatic hernia,... OMIM:600001
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Micromelia ORPHA:1675
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Weight loss, Arthritis, Osteomalacia OMIM:619381
Arthrogryposis, Distal, Type 2B2
Sandal gap, Broad hallux, Short toe, Clinodactyly, Overlapping fingers, Talipes equinovarus, Brac... OMIM:618435
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Hydronephrosis, Agenesis of the diaphragm, Stillbirth, Hypospadias OMIM:236680
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Wide pubic symphysis, Limb undergrowth, Cutaneous syndactyly ORPHA:2052
Sheldon-Hall Syndrome
Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Joint stiffness, Micrognathia, Overl... ORPHA:1147

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 Tnnt3

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 Tnnt3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Troponin T3 expression in skeletal and smooth muscle is required for growth and postnatal survival: characterization of Tnnt3(tm2a(KOMP)Wtsi) mice. Genesis (New York, N.Y. : 2000) (July 2013) Tnnt3tm2a(KOMP)Wtsi PMC3787964

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
Tnnt3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tnnt3tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tnnt3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tnnt3tm44902(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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