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Gene: Myf6 MGI:97253

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

myogenic factor 6

Synonyms:

bHLHc4, MRF4, herculin

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 Myf6 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 Myf6 (1 diseases)
Human diseases predicted to be associated with Myf6 (693 diseases)

The table below shows human diseases associated to Myf6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autosomal Dominant Centronuclear Myopathy		Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189

The table below shows human diseases predicted to be associated to Myf6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Costocoracoid Ligament, Congenitally Short	Abnormality of the shoulder girdle musculature, Abnormal scapula morphology, Down-sloping shoulders	OMIM:122580
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Cervical Rib	Cervical ribs	OMIM:117900
Thoracic Dysostosis, Isolated	Pectus excavatum, Bell-shaped thorax, Short ribs	OMIM:187750
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh...	OMIM:617405
Poland Syndrome	Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ...	OMIM:173800
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Thoracopelvic Dysostosis	Short ribs	OMIM:187770
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Me...	OMIM:613330
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Torticollis, Pectus excavatum, Scoli...	OMIM:618155
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped...	ORPHA:1803
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Kyphoscoliosis, Rib fusi...	OMIM:277300
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo...	ORPHA:1801
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai...	OMIM:122600
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Mi...	OMIM:614524
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif...	OMIM:215045
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i...	OMIM:151210
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar...	OMIM:187601
Diaphanospondylodysostosis	Enlarged thorax, Respiratory distress, Absent or minimally ossified vertebral bodies, Missing rib...	ORPHA:66637
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly,...	OMIM:618961
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, 11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Short ne...	OMIM:618393
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly...	ORPHA:3268
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Pectus carinatum, Micromelia, Abnormal tibia morphology, Supernum...	ORPHA:64755
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Advanced tars...	OMIM:269250
Achondrogenesis Type 2	Hypoplastic ilia, Narrow chest, Unossified sacrum, Micromelia, Absent vertebral body mineralizati...	ORPHA:93296
Autosomal Dominant Spondylocostal Dysostosis	Abnormal sacrum morphology, Abnormal rib morphology, Vertebral segmentation defect, Missing ribs,...	ORPHA:1797
Stuve-Wiedemann Syndrome 2	Thoracic hypoplasia, Respiratory distress, Neonatal death, Bowing of the long bones, Death in ado...	OMIM:619751
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor...	OMIM:613320
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh...	OMIM:602557
Achondrogenesis, Type Ib	Hypoplastic ilia, Narrow chest, Micromelia, Absent or minimally ossified vertebral bodies, Short ...	OMIM:600972
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Death ...	ORPHA:1354
Sprengel Deformity	Rib segmentation abnormalities, Spina bifida occulta, Sprengel anomaly, Hemivertebrae, Neck muscl...	OMIM:184400
Lethal Recessive Chondrodysplasia	Narrow chest, Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Generalize...	ORPHA:1423
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,...	OMIM:609052
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Thoracic hypopla...	OMIM:187600
Fibrochondrogenesis 1	Thin ribs, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Broad long bones, Sho...	OMIM:228520
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Micromelia, Respirato...	OMIM:617895
Dysosteosclerosis	Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, A...	OMIM:224300
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Short thorax, Camptodactyly of finger, Abnormal form of the vertebral bodies, ...	ORPHA:2311
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo...	ORPHA:1988
Metatropic Dysplasia	Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, ...	ORPHA:2635
Three M Syndrome 1	Short 5th finger, Joint dislocation, Slender long bone, Hypoplastic pelvis, Increased vertebral h...	OMIM:273750
Seckel Syndrome 4	11 pairs of ribs, Steep acetabular roof	OMIM:613676
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Widely patent f...	OMIM:241500
Lethal Congenital Contracture Syndrome 3	Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle ...	OMIM:611369
Achondrogenesis, Type Ii	Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Abs...	OMIM:200610
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum...	OMIM:250420
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation...	OMIM:613686
Bone Dysplasia, Lethal Holmgren Type	Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog...	ORPHA:1842
Achondroplasia	Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral...	OMIM:100800
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Cerebrofaciothoracic Dysplasia	Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Bifid ribs...	ORPHA:1394
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f...	ORPHA:2021
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Micromelia, Coxa vara, Flared, irregular rib ends, S...	ORPHA:168555
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Short iliac ...	ORPHA:3003
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory distress, Mu...	OMIM:614399
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Osteopenia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Mi...	OMIM:616897
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi...	ORPHA:2347
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Radial bowing, Thoracic hypoplasia, Preaxial polydactyly, Micromelia, Vertebral we...	OMIM:617866
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac...	OMIM:184260
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Narrow chest, Limitation of joint mobility, Micromelia, Broad long...	OMIM:224400
Bent Bone Dysplasia Syndrome 2	Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ...	OMIM:620076
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Narrow chest, Anisospondyly, Limitation of joint mobility, Micromelia, Broad lo...	ORPHA:1865
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Respiratory distress, Joint hypermobility, Arachnodactyly,...	ORPHA:2759
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, Short ribs, Po...	OMIM:109400
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Bell-shaped thorax, Micrognathia,...	ORPHA:56304
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals	OMIM:618724
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognathia, Death in infancy, Short rib...	OMIM:241800
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnorm...	ORPHA:93351
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ribs, Brachydacty...	OMIM:615630
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Kyphosis, Bowing of limbs due to multiple fractures, Decreased c...	OMIM:259440
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Skeletal muscle atrophy, Slender long bone, Abnormal form of the ve...	ORPHA:1486
Cooper-Jabs Syndrome	Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone mineral density, Congenital d...	ORPHA:1488
Odontochondrodysplasia	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Respiratory d...	ORPHA:166272
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Congenital muscular torticolli...	ORPHA:2345
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Arachnodactyly, Rib fusion, Brachydactyly, Ante...	ORPHA:377
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Scoliosis, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand...	OMIM:609616
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Di...	OMIM:300863
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Firm muscles, Pectus carinatum, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Bell...	OMIM:255710
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:1513
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Respiratory distress, Broad ribs, Short ribs, Abnormal rib morpholog...	ORPHA:2519
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Decreased muscle mass, Acute infantile spinal muscular at...	OMIM:271225
Prieto Syndrome	Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Patellar subluxation, Patellar disloc...	OMIM:309610
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Micrognathia, Dysplastic patella, Congenital diaphragmatic hernia, Patella...	OMIM:265000
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia...	ORPHA:2911
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle...	ORPHA:1143
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon...	OMIM:252600
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Meier-Gorlin Syndrome 1	Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact...	OMIM:224690
Hereditary Myopathy With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m...	ORPHA:178464
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Proximal femoral metaphyseal irregu...	OMIM:602271
Congenital Diaphragmatic Hernia	Respiratory distress, Prominent sternum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of t...	ORPHA:2140
Braddock Syndrome	Preaxial hand polydactyly, Micrognathia, Congenital muscular torticollis, Missing ribs, Short nec...	ORPHA:52047
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Facial diplegia, Diap...	OMIM:122860
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Micrognathia, Short nec...	OMIM:271665
Perching Syndrome	Respiratory distress, Camptodactyly, Scoliosis, Joint contracture	OMIM:617055
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm...	ORPHA:628
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses...	OMIM:608728
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Abnormal form of the vertebral bodies, Camptodactyly of...	ORPHA:2839
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ...	OMIM:271520
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Thin ribs, Respiratory distress, Myopathy, Joint hype...	OMIM:300219
Nail-Patella Syndrome	Patellar aplasia, Disproportionate prominence of the femoral medial condyle, Patellar dislocation...	OMIM:161200
Congenital Disorder Of Glycosylation, Type Iig	Posterior rib gap, Osteopenia, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, ...	OMIM:611209
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Osteogenesis Imperfecta, Type X	Thin ribs, Micrognathia, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bone...	OMIM:613848
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b...	OMIM:250220
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint...	OMIM:618395
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ...	OMIM:615503
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral...	OMIM:184252
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor...	ORPHA:239
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis...	ORPHA:2097
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Narrow chest, Overlapping toe, Micrognathia, Joint hypermobility, Rib fusion, Short neck, Sprenge...	OMIM:213980
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s...	OMIM:613091
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Abnormal clavicle morphol...	ORPHA:93267
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Micrognathia, Congenital diaphragmatic hernia, Rib fusion, Hand po...	ORPHA:261197
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Hemivertebrae, Facial palsy, Scoliosis	OMIM:614688
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Narrow chest, Rhizomelia, 11 pairs of ribs, Vertebral segmentation defect, Hemivertebrae	OMIM:617661
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal form of the vertebral ...	ORPHA:3144
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy, Kyphoscoliosis	OMIM:619099
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba...	OMIM:156550
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Respiratory distress, Femo...	OMIM:618188
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Knee flexion contracture, Hip...	OMIM:156400
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra...	OMIM:615633
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Micromelia, Thoracic dysplasi...	OMIM:614091
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Skeletal muscle atrophy, Abnormal thorax morphology, Micrognathia,...	OMIM:253310
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Aplasia/Hypoplasia of fingers, Dyspnea, Micrognathia	ORPHA:141152
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology	ORPHA:1506
Aicardi Syndrome	Small hand, Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, B...	ORPHA:50
Van Den Ende-Gupta Syndrome	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Mi...	OMIM:600920
Hypersulfaturia	Costochondral pain	OMIM:620372
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Micrognathia, Myopathy, Type 1 fibers relatively smaller than type 2 fibers...	OMIM:300580
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia of the distal phalan...	OMIM:308050
Autosomal Recessive Multiple Pterygium Syndrome	Axillary pterygium, Popliteal pterygium, Skeletal muscle atrophy, Limitation of joint mobility, F...	ORPHA:2990
Myopathy And Diabetes Mellitus	Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak...	ORPHA:2596
Diaphanospondylodysostosis	Unossified sacrum, Tracheomalacia, Thoracic hypoplasia, Respiratory distress, Bell-shaped thorax,...	OMIM:608022
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen...	OMIM:184250
Ellis-Van Creveld Syndrome	Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i...	OMIM:225500
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Broad clavicles, Abnormal epiphysis...	ORPHA:50945
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Twelfth rib hypoplasia, Micrognathia, Bell-shaped thorax, Tachypnea, Long clavicles, Cone-shaped ...	ORPHA:397715
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, A...	OMIM:118100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Osteogenesis Imperfecta, Type Xv	Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios...	OMIM:615220
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Micrognathia, Neonatal dea...	OMIM:108720
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial insta...	OMIM:183900
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta...	OMIM:602111
Nemaline Myopathy 2	Increased variability in muscle fiber diameter, Limb muscle weakness, Muscle fiber splitting, Cal...	OMIM:256030
Mosaic Trisomy 14	Narrow chest, Camptodactyly of finger, Micrognathia, Short neck, Abnormal rib morphology	ORPHA:1703
Thoraco-Abdominal Enteric Duplication	Missing ribs, Camptodactyly of finger	ORPHA:1759
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordos...	ORPHA:2522
Noonan Syndrome 12	Pectus excavatum, 11 pairs of ribs, Proximal placement of thumb, Spinal canal stenosis	OMIM:618624
Aicardi Syndrome	Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs, H...	OMIM:304050
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Short neck, Abnormal rib morphology	ORPHA:2578
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Micrognathia, Cong...	ORPHA:1834
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Foot dorsiflexor...	OMIM:620011
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Type 2 muscle fiber atrophy, Apneic episodes precipitated by illness, fatig...	OMIM:254210
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle...	ORPHA:392
Congenital Myopathy 3 With Rigid Spine	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:602771
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Apneic episode...	OMIM:605809
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Respiratory distress, Butterfly vertebrae, Short humerus, Sh...	OMIM:607143
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Fusion of midcervical facet joints, Limb muscle weakness, Widening of cervical s...	OMIM:606842
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow chest, Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydac...	OMIM:616300
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Short ribs...	OMIM:603116
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ...	ORPHA:2319
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Increased endomysial con...	OMIM:620278
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Increased variability in muscle fiber diameter, Skeletal muscle atrophy	ORPHA:238329
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert...	ORPHA:2234
Achondrogenesis Type 1B	Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Micromelia, Micrognathia...	ORPHA:93298
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, ...	ORPHA:3027
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Short tibia, Preaxial polydactyly, Micrognathia, Horizontal ribs, Long thorax, Fibu...	OMIM:617925
Lethal Osteosclerotic Bone Dysplasia	Delayed cranial suture closure, Respiratory distress, Micrognathia, Short neck, Mandibular aplasi...	ORPHA:1832
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Sandal gap, Respiratory distr...	OMIM:617102
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Respiratory distress, Osteomyelitis, Broad ribs, Joint swelling, Flaring...	OMIM:612852
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Narrow chest, Proximal femoral epiphysiolysis, Respiratory distress, Metaphy...	OMIM:260400
Osteogenesis Imperfecta, Type Ii	Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long...	OMIM:166210
Lymphangiectasia, Intestinal	Prominent floating ribs, Stillbirth	OMIM:152800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly...	OMIM:263520
Becker Nevus Syndrome	Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs	OMIM:604919
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Narrow chest, Short toe, Short finger, Thoracic dysplasia, Bowing of the ar...	OMIM:269860
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Hip dislocation, Narrow chest, Short t...	ORPHA:2484
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Pectus carinatum, Skeletal muscle atrophy, Limitation of joint mobilit...	ORPHA:3068
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Congenital diaphragmatic ...	ORPHA:1120
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal thorax morphology	ORPHA:50251
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy...	OMIM:300232
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	OMIM:620375
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Congenital diaphragmatic herni...	OMIM:616546
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Clinodactyly, Respiratory distress, Micrognathia, Scoliosis	OMIM:300934
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Congenital contracture, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Knee flexion c...	OMIM:616266
3M Syndrome	Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increased vertebral height, ...	ORPHA:2616
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula...	OMIM:200980
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Cervical ribs	ORPHA:66630
Meier-Gorlin Syndrome 3	Narrow chest, Microretrognathia, Tracheomalacia, Slender long bone, Patellar hypoplasia, Short th...	OMIM:613803
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
White Forelock With Malformations	Finger syndactyly, Joint hypermobility, Spina bifida occulta, Sprengel anomaly, Abnormal rib morp...	ORPHA:2475
Microcephaly-Micromelia Syndrome	Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn...	OMIM:251230
Radio-Renal Syndrome	Micromelia, Abnormal form of the vertebral bodies, Respiratory distress, Micrognathia, Short neck...	ORPHA:3015
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Narrow chest, Rhizomelia, Microretrognathia, Decreased calvarial ossif...	OMIM:616229
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea...	OMIM:253000
Achondrogenesis Type 1A	Narrow chest, Abnormal enchondral ossification, Micromelia, Micrognathia, Multiple rib fractures,...	ORPHA:93299
Mucopolysaccharidosis Type 4	Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Short thorax, Joint dislocation, ...	ORPHA:582
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Kyphoscoliosis	OMIM:617977
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Bowing ...	OMIM:617952
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Hypoplasia of the musculature, Micrognathia, Limb muscle weakness, Hip contracture, Sh...	OMIM:620369
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Hypoplastic il...	OMIM:271640
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, 11 pairs ...	OMIM:620073
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, M...	ORPHA:3082
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Joint dislocation, Short finger, Amyoplasia, Micrognathia, Increased susceptibility to...	OMIM:312150
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Congenital diaphra...	ORPHA:1647
Shprintzen-Goldberg Syndrome	Osteopenia, Pectus carinatum, Narrow chest, Elbow dislocation, Abnormal form of the vertebral bod...	ORPHA:2462
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o...	ORPHA:73230
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Thin ribs, Congenital contracture, Death in infancy, ...	OMIM:615368
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib...	OMIM:619698
Kbg Syndrome	Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Thoracic kyphosis, ...	OMIM:148050
Osteogenesis Imperfecta, Type Iii	Thin ribs, Kyphosis, Slender long bone, Micrognathia, Bowing of limbs due to multiple fractures, ...	OMIM:259420
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc...	ORPHA:163966
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt...	ORPHA:2876
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Autosomal Recessive Robinow Syndrome	Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Mi...	ORPHA:1507
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Micrognathia, Congenital diaphragmatic hernia, Radioulnar synos...	OMIM:245600
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl...	ORPHA:958
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Supernumerary ribs, Patellar subluxation, Osteoporosis, Coxa valga	ORPHA:2958
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Kyphosis, Elbow dislocation, Abnormal rib morphology, Abnormal fo...	ORPHA:2769
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
1P36 Deletion Syndrome	Scoliosis, Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Clinodactyly...	ORPHA:1606
Phosphoribosylaminoimidazole Carboxylase Deficiency	Lumbar hemivertebrae, Neonatal death, Missing ribs, Short neck, Clinodactyly of the 5th finger	OMIM:619859
Cole-Carpenter Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Micrognathia, Joint hypermobility, Bowing of the...	ORPHA:2050
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Radial he...	OMIM:146510
Microlissencephaly-Micromelia Syndrome	Micromelia, Respiratory distress, 11 pairs of ribs, Short neck, Adducted thumb	ORPHA:50810
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology	ORPHA:2643
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly, Hemivertebrae...	ORPHA:2180
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Respiratory distress, Horizontal ribs, Short ribs, Postaxial...	OMIM:617088
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Joint dislocation, Short finger, Amyoplasia, Micrognathia, Increased susceptibility to...	OMIM:253290
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Left ventricular noncompaction	OMIM:613642
Focal Dermal Hypoplasia	Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph...	ORPHA:2092
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macrogl...	ORPHA:254864
Congenital Disorder Of Glycosylation, Type Iu	Congenital contracture, Respiratory distress, Micrognathia, Death in infancy, Scoliosis	OMIM:615042
Cog1-Cdg	Posterior rib gap, Osteopenia, Rhizomelia, Micrognathia, Butterfly vertebrae, Vertebral segmentat...	ORPHA:263508
Hypophosphatasia	Narrow chest, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abnormal metap...	ORPHA:436
Severe Congenital Nemaline Myopathy	Thin ribs, Nemaline bodies, Skeletal muscle atrophy, Abnormal thorax morphology, Facial diplegia,...	ORPHA:171430
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy	OMIM:254120
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn...	ORPHA:3035
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, W...	OMIM:619131
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Short thumb, Abnormality of the vertebral column, Preaxial hand po...	ORPHA:280
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Sandal gap, Short toe, Short 5th metacarpal, 11 pairs of ribs, Spondylolisthesis, Spi...	OMIM:617877
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Cree Impaired Intellectual Development Syndrome	Cutaneous finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the ribs, Pectus excavatum, Rock...	OMIM:606851
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Joint hypermobility, Decreased calvarial ossification, Abnormal rib morphology, Recur...	ORPHA:2772
Microphthalmia, Syndromic 3	Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hemivertebrae, Vertebral fusio...	OMIM:206900
Campomelic Dysplasia	Small abnormally formed scapulae, Narrow chest, Kyphosis, Tracheomalacia, 11 pairs of ribs, Femor...	ORPHA:140
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Abnormal rib morphology	ORPHA:280195
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:600081
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu...	ORPHA:85184
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Micrognathia, Decreased calvarial ossification, Brachydactyly, Cran...	OMIM:618265
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis	OMIM:613702
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia, Neonatal death	OMIM:226735
Ulbright-Hodes Syndrome	Thin ribs, Abnormal forearm bone morphology, Respiratory distress, Fibular aplasia, Micrognathia,...	ORPHA:3404
Osteogenesis Imperfecta, Type Viii	Thin ribs, Osteopenia, Platyspondyly, Kyphosis, Radial bowing, Slender long bone, Femoral bowing,...	OMIM:610915
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Delayed cranial suture closure, Decreased skull ossification, Stenosis of ...	ORPHA:93324
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal rib morphology	ORPHA:93941
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista...	OMIM:269150
Restrictive Dermopathy 2	Respiratory distress, Microretrognathia, Short clavicles, Overtubulated long bones	OMIM:619793
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, 11 pairs of ribs, Micrognathia, Fibular...	OMIM:201170
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Overlapping toe, Micrognathia, Congenital diaphragmatic hernia, Rad...	OMIM:154400
Brachytelephalangic Chondrodysplasia Punctata	Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Stippling of the epiph...	ORPHA:79345
Ritscher-Schinzel Syndrome 1	Missing ribs, Micrognathia, Hemivertebrae, Syndactyly	OMIM:220210
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Brachydactyly, Split hand, Abnormal rib morphology, ...	ORPHA:2145
Gaucher Disease Type 2	Respiratory distress, Flexion contracture, Abnormal pattern of respiration	ORPHA:77260
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Short neck, Co...	OMIM:266920
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Rib fusion, Clinodactyly of the 5th finger, Sacral dimple, Tapered finger	ORPHA:544488
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn...	OMIM:305620
Chitayat Syndrome	Tracheomalacia, Respiratory distress, Hallux valgus, Brachydactyly, Pectus excavatum	OMIM:617180
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Respiratory distress, Myopathy, Weakness of facial musculature, Spinal m...	ORPHA:254875
Three M Syndrome 2	Thin ribs, Short 5th finger, Pectus carinatum, Slender long bone, Clinodactyly, Lumbar hyperlordo...	OMIM:612921
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Broad ribs, Joint stiffness, Genu valgum, Short neck, Macroglossia, Abnorma...	ORPHA:583
Renpenning Syndrome	Skeletal muscle atrophy, Joint stiffness, Abnormal thumb morphology, Sprengel anomaly, Abnormal r...	ORPHA:3242
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Micrognathia, Hyperextensibility of the finger joints	OMIM:618356
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Hand muscle weakness, Respiratory distress, Type 1 muscle fiber predomin...	ORPHA:98915
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Myopathy	ORPHA:91130
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Micrognathia, Missing ribs, Abnormal rib morphology, Tet...	ORPHA:3301
Seckel Syndrome 5	11 pairs of ribs, Micrognathia, Clinodactyly of the 5th finger, Scoliosis, Short middle phalanx o...	OMIM:613823
Diamond-Blackfan Anemia 10	Morgagni diaphragmatic hernia, Respiratory distress, Micrognathia, Congenital diaphragmatic herni...	OMIM:613309
Cole-Carpenter Syndrome 2	Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Microretrognathia, ...	OMIM:616294
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma...	ORPHA:485
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae	OMIM:214300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar...	ORPHA:536467
Moebius Syndrome	Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger, Respiratory dis...	OMIM:157900
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Cone-shape...	OMIM:210600
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Ovoid vertebral bodies, ...	OMIM:253010
Garg-Mishra Progeroid Syndrome	Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S...	OMIM:620601
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Slender long bone, Decreased skull ossification, Delayed closure of the an...	OMIM:244460
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,...	OMIM:114290
Cleidocranial Dysplasia	Hypoplastic scapulae, Genu valgum, Micrognathia, Decreased skull ossification, Abnormal metacarpa...	ORPHA:1452
X-Linked Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Respiratory distress, Weakness of facial musculature,...	ORPHA:596
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Myopathy	ORPHA:26792
3C Syndrome	Finger syndactyly, Abnormal hip bone morphology, Micrognathia, Death in infancy, Missing ribs, Ha...	ORPHA:7
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Carpal synostosis, Fusion of middle ear ossicles, Congenital diaphragmatic...	OMIM:157800
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Abnormal thorax morphology, Death in infancy, Bowing of the long bo...	ORPHA:1318
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Abnormal rib morphology, Pectus excava...	ORPHA:2970
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,...	ORPHA:3258
Congenital Myasthenic Syndrome	Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Pectus carinatum, Distal amyotrophy, Arthrogryposis multiplex congeni...	ORPHA:98914
Joubert Syndrome 21	Dyspnea, Apnea, Bell-shaped thorax, Short ribs	OMIM:615636
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia, Neonatal death	OMIM:306950
Vertebral Hypersegmentation And Orofacial Anomalies	Micrognathia, Joint hypermobility, Supernumerary ribs, Scapular winging, Six lumbar vertebrae, Pe...	OMIM:619122
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility, Radial bowing, Flared metaphysis, Thoracic hypoplasi...	OMIM:211350
Bardet-Biedl Syndrome 16	Respiratory distress, Polydactyly	OMIM:615993
Cranioectodermal Dysplasia 2	Narrow chest, Rhizomelia, Clinodactyly, Micrognathia, Horizontal ribs, Metopic synostosis, Polyda...	OMIM:613610
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Narrow chest, Rhizomelia, Short toe, Clinodactyly, Radial deviati...	OMIM:218330
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Diastasis recti, Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Antley-Bixler Syndrome	Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Femoral b...	ORPHA:83
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Short neck, Cervical hemivert...	ORPHA:508498
Short Stature And Facioauriculothoracic Malformations	Pectus carinatum, Cervical ribs, Abnormal odontoid process morphology, Short neck, Pectus excavatum	OMIM:609654
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Narrow chest, Rhizomelia, Respiratory distress, Lumbar hyperlordosis, Femoral bowi...	OMIM:616482
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Abnormal bone ossification, Diaphyseal undertub...	ORPHA:175
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Narrow chest, Stiff neck, Broad ribs, Overlapping...	OMIM:617022
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:241530
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Camptodactyly of finger, 11 pairs of ribs, Rib fusion, Delayed closure of the a...	OMIM:607872
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Muscular dystrophy, Small hand, Upper limb undergrowth, Respiratory di...	OMIM:608799
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Left ventricular hypertrophy, Death in infancy	OMIM:616974
Robinow Syndrome	Short distal phalanx of finger, Micrognathia, Kyphoscoliosis, Missing ribs, Rib fusion, Bifid dis...	ORPHA:97360
Craniometadiaphyseal Dysplasia	Osteopenia, Absent paranasal sinuses, Flared metaphysis, Broad long bones, Broad ribs, Sclerosis ...	OMIM:269300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Ragged-red muscle fibers, Generalized amyotrophy	OMIM:613561
Hallermann-Streiff Syndrome	Rib exostoses, Small hand, Tracheomalacia, Micrognathia, Short ribs, Clinodactyly of the 5th fing...	ORPHA:2108
Cornelia De Lange Syndrome 6	Pectus carinatum, Short 1st metacarpal, Down-sloping shoulders, Arachnodactyly, Hip dysplasia, Cl...	OMIM:620568
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Holzgreve Syndrome	Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, A...	ORPHA:2167
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Respiratory distress, Apnea, Micrognathia, Mandibular condyle hypopla...	OMIM:614669
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, 11 pairs of ribs, Hemivertebrae	ORPHA:77298
Mucopolysaccharidosis, Type Iiia	Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria	OMIM:252900
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Axial muscle stiffness	ORPHA:240085
Arthrogryposis Multiplex Congenita 5	Scoliosis, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Death in infancy, Kyphoscol...	OMIM:618947
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Pectus carinatum, Delayed cranial suture closure, Respiratory distress, Overlapping fingers, Over...	OMIM:619383
Wolf-Hirschhorn Syndrome	Pseudoepiphyses of the metacarpals, Kyphosis, Short thumb, Decreased muscle mass, Preaxial hand p...	OMIM:194190
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, H...	ORPHA:2215
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Platyspondyly, Abnormal epiphysis morphology, Meta...	ORPHA:85167
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Genu varum, Vertebral hypero...	ORPHA:89936
Steinfeld Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Missing ribs, Aplasia/Hypopla...	OMIM:184705
Camptodactyly Syndrome, Guadalajara Type 3	Sternocleidomastoid amyotrophy, Small hand, Osteopenia, Broad femoral neck, Distal shortening of ...	ORPHA:488434
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri...	OMIM:612447
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s...	ORPHA:93317
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phalanx, Short foo...	OMIM:166250
Tetrasomy 5P	Respiratory distress, Overlapping toe, Micrognathia, Short neck, Aplasia/Hypoplasia of the abdomi...	ORPHA:3309
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Joint stiffness, Bicoronal synostosis, 11 pairs of ribs, Joint hypermobility, Brachydactyly, Shor...	OMIM:619184
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Pate...	OMIM:218600
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Mucopolysaccharidosis, Type Iiib	Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria	OMIM:252920
Osteogenesis Imperfecta, Type Vii	Osteopenia, Narrow chest, Rhizomelia, Micromelia, Crumpled long bones, Delayed cranial suture clo...	OMIM:610682
Zttk Syndrome	Small hand, Cervical ribs, Joint hypermobility, Rib fusion, Hemivertebrae, Craniosynostosis, Flex...	OMIM:617140
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Congenital dia...	OMIM:618022
Kagami-Ogata Syndrome	Thin ribs, Bell-shaped thorax, Diastasis recti, Micrognathia, Kyphoscoliosis, Limb undergrowth, L...	OMIM:608149
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Immunodeficiency 95	Respiratory distress	OMIM:619773
Cerebrocostomandibular Syndrome	Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra...	OMIM:117650
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Wrist hypermobility, Joint hypermobility, Hip dysplasia, Finger joint hyper...	ORPHA:544503
Mucopolysaccharidosis, Type Iiic	Joint stiffness, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thic...	OMIM:252930
Schwartz-Jampel Syndrome	Elbow dislocation, Genu valgum, Micrognathia, Hip contracture, Myopathy, Bowing of the long bones...	ORPHA:800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Bulgi...	OMIM:264700
Mosaic Trisomy 8	Narrow chest, Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Patellar aplas...	ORPHA:96061
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Dyspnea, Tracheobronchomalacia, Right ventricular hypertrophy	ORPHA:70589
Arthrogryposis Multiplex Congenita 6	Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf...	OMIM:619334
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Osteopenia, Hypoplasia of the musculature, Small hypothenar eminence, Thin metatarsal ...	ORPHA:2463
Brown-Vialetto-Van Laere Syndrome 1	Skeletal muscle atrophy, Respiratory distress, Nocturnal hypoventilation, Death in childhood, Han...	OMIM:211530
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs	OMIM:601389
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Micrognathia, Decreased skull ossification, Aplasia ...	ORPHA:3472
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Congenital diaphragmatic hernia, Foot polydactyly, Short m...	OMIM:305600
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Broad ribs, Ovoid...	ORPHA:1517
Nestor-Guillermo Progeria Syndrome	Thin ribs, Microretrognathia, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Microg...	OMIM:614008
Mucopolysaccharidosis-Plus Syndrome	Pectus carinatum, Respiratory distress, Acetabular dysplasia, Death in childhood, Flared iliac wi...	OMIM:617303
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Congenital diaphragmatic hernia, 2-3 finger syndactyly, Broad toe, Short greater sci...	OMIM:312870
Succinic Acidemia	Respiratory distress	OMIM:600335
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bowing, Tibial bowin...	OMIM:608940
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad...	OMIM:600002
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Flexion contracture	OMIM:614833
Opsismodysplasia	Metaphyseal cupping, Narrow chest, Hypoplasia of the odontoid process, Rhizomelia, Posterior rib ...	OMIM:258480
Gm1-Gangliosidosis, Type I	Joint stiffness, Death in infancy, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral...	OMIM:230500
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenita...	ORPHA:63260
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Short neck, Anteri...	OMIM:253220
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Joint hypermobility,...	ORPHA:370930
Stuve-Wiedemann Syndrome 1	Thin ribs, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplas...	OMIM:601559
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Clinodactyly, 11 pairs of ribs, Diastasis recti, 2-3 toe syndactyly, Sho...	ORPHA:488632
Sclerosteosis 1	Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Facial palsy second...	OMIM:269500
Episodic Ataxia Type 1	Respiratory distress, Scoliosis, Calf muscle hypertrophy, Kyphoscoliosis	ORPHA:37612
Trisomy 1Q	Toe syndactyly, Microretrognathia, Short thorax, Preaxial hand polydactyly, Camptodactyly of fing...	ORPHA:261344
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Thoracic hypoplasia, Overlapping toe, Diastasis recti, Joint hypermobility, Wrist flexion contrac...	ORPHA:254528
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O...	OMIM:307800
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Death in infancy, Decreased skull ossification, ...	OMIM:602361
Hurler Syndrome	Abnormal vertebral morphology, Abnormal epiphysis morphology, Limitation of joint mobility, Abnor...	ORPHA:93473
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, 11 pairs of ribs, Micrognathia, 2-3 toe syndactyly, Clinodactyly of the 5th fi...	OMIM:620025
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormal tibia morphology, Bowing of the long bones, Abnormal morphology of the rad...	ORPHA:249
Farber Disease	Skeletal muscle atrophy, Short toe, Abnormal sternum morphology, Short finger, Respiratory distre...	ORPHA:333
Otopalatodigital Syndrome Type 2	Narrow chest, Synostosis of carpal bones, Short thumb, Elbow dislocation, Carpal synostosis, Camp...	ORPHA:90652
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Left ventricular hypertrophy	OMIM:616733
Cartilage-Hair Hypoplasia	Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Narrow ches...	OMIM:250250
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Narrow chest, Tracheomalacia, Clinodactyly, Respiratory distress, Micrognathia, Short neck, Brach...	OMIM:217980
Aspergillosis	Abnormality of the vertebral column, Osteomyelitis, Abnormal long bone morphology, Abnormal rib m...	ORPHA:1163
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Congenital diaphr...	ORPHA:887
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Joint hypermobility	ORPHA:456328
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring, Abnormal thorax morphology	ORPHA:70587
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ov...	OMIM:253200
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Popliteal pterygium, Finger syndactyly, Joint stiffness, Micrognathia, Split hand...	ORPHA:1300
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Elbow dislocation, Camptodac...	ORPHA:2554
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Tachypnea, Bell-shaped thorax, Horizontal ribs	OMIM:614857
Craniofaciofrontodigital Syndrome	Osteopenia, Pectus carinatum, Respiratory distress, Finger joint hypermobility, Joint hypermobili...	ORPHA:363705
Wiedemann-Steiner Syndrome	Rhizomelia, Clinodactyly, Abnormality of the elbow, Aplasia/Hypoplasia of the ribs, Pectus excava...	ORPHA:319182
Leopard Syndrome 1	Pectus carinatum, Limited elbow movement, Missing ribs, Cubitus valgus, Short neck, Spina bifida ...	OMIM:151100
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Respiratory distress, Absent ossi...	ORPHA:226313
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Respiratory distress, Death in infancy, Myopathy,...	OMIM:604377
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Sho...	OMIM:609945
Alagille Syndrome	Short distal phalanx of finger, Abnormal form of the vertebral bodies, Micrognathia, Vertebral se...	ORPHA:52
Malaria	Respiratory distress	ORPHA:673
Trisomy 13	Narrow chest, Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormal rib morphology, Post...	ORPHA:3378
Dyssegmental Dysplasia, Silverman-Handmaker Type	Anisospondyly, Thoracic hypoplasia, Micromelia, Pterygium, Micrognathia, Neonatal death, Bowing o...	OMIM:224410
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Narrow chest, Abnormal pelvis bone ossification, Short thorax, Preaxial hand polydactyly, Absent ...	ORPHA:93271
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Osteopenia, Joint contracture of the hand, Pectus carinatum, Genu recurvatum, Genu val...	OMIM:182212
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Rocker bottom foot, Microretrognathia, Adducted thumb	ORPHA:89844
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Foot polydactyly, Vertebral segmentation defect, Missing ribs, Aplasia/Hypoplasia of the thumb, H...	ORPHA:3186
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Narrow chest, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, Bifid...	OMIM:105650
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	OMIM:276820
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Micromelia, Camptodactyly of finger, Respiratory distre...	ORPHA:3206
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Contractures of the large joints, Respiratory distress, Micrognathia, Scoliosis	ORPHA:329178
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Death in c...	OMIM:210710
Gaucher Disease, Perinatal Lethal	Thoracic hypoplasia, Respiratory distress, Apnea, Micrognathia, Neonatal death, Arthrogryposis mu...	OMIM:608013
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Abnormal skeletal muscle morphology	ORPHA:142
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Micrognathia, Congenital diaphragmatic hernia	OMIM:606164
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Jacobsen Syndrome	Micrognathia, Missing ribs, Short neck, Brachydactyly, Clinodactyly of the 5th finger, Flexion co...	OMIM:147791
Laryngomalacia	Respiratory distress	OMIM:150280
Kagami-Ogata Syndrome	Limitation of joint mobility, Thoracic hypoplasia, Bell-shaped thorax, Diastasis recti, Micrognat...	ORPHA:254519
Myhre Syndrome	Platyspondyly, Craniofacial hyperostosis, Abnormal epiphysis morphology, Joint stiffness, Abnorma...	ORPHA:2588
Gm1 Gangliosidosis Type 1	Platyspondyly, Pectus carinatum, Beaking of vertebral bodies T12-L3, Broad long bone diaphyses, A...	ORPHA:79255
6Q Terminal Deletion Syndrome	Clinodactyly, Micrognathia, Joint hypermobility, Short neck, Hallux valgus, Aplasia/Hypoplasia of...	ORPHA:75857
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe...	ORPHA:672
Mogs-Cdg	Respiratory distress, Overlapping fingers, Apnea, Hypoventilation, Thoracic scoliosis, Left ventr...	ORPHA:79330
Osteogenesis Imperfecta	Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Micrognathia, Dec...	ORPHA:666
Premature Aging Syndrome, Penttinen Type	Thin ribs, Short distal phalanx of finger, Slender long bone, Cervical ribs, Delayed cranial sutu...	OMIM:601812
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Micrognathia, Diastasis recti, Butterfly vertebrae, Neonatal death, Posterior rib fusion, Right v...	OMIM:265380
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Osteoma...	ORPHA:289157
Occipital Horn Syndrome	Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel...	OMIM:304150
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress	OMIM:619466
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent thumb, Slender long bone, Cervical ribs, Lumbar hyperlordosis, Joint hypermobility, Rib fu...	ORPHA:500150
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, 11 pairs of ribs, 2-3 toe syndactyly, Hemivertebrae, Postaxial hand p...	OMIM:264480
Monosomy 9Q22.3	Abnormality of the vertebral column, Metopic synostosis, Joint hypermobility, Polydactyly, Short ...	ORPHA:77301
Carnitine Deficiency, Systemic Primary	Respiratory distress, Reduced muscle carnitine level, Myopathy	OMIM:212140
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Micrognathia	ORPHA:261304
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Fibular aplasia, Micrognathia, Arachnodactyly, Craniofacial osteos...	OMIM:300373
Orofaciodigital Syndrome Xiv	Microretrognathia, Broad hallux, Preaxial polydactyly, Micrognathia, Short ribs, Aplasia of the e...	OMIM:615948
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ...	ORPHA:95699
Jacobsen Syndrome	Toe clinodactyly, Toe syndactyly, Finger syndactyly, Short toe, Abnormal form of the vertebral bo...	ORPHA:2308
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal joint morphology, Lumbar scoliosis, Short neck, Abnormal bone ossification, Metaphyseal ...	ORPHA:99646
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Respiratory distress, Myopathy, Abnormal muscle glycogen content, Flexio...	ORPHA:367
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pectus carinatum, Respiratory distress, Joint stiffness, Lumbar hyperlordosis, Barrel-shaped ches...	ORPHA:505248
Primary Dystonia, Dyt4 Type	Respiratory distress, Torticollis, Kyphoscoliosis	ORPHA:98805
Avian Influenza	Respiratory distress, Rhabdomyolysis, Tachypnea, Dyspnea, Miscarriage	ORPHA:454836
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys...	OMIM:610921
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan	OMIM:620166
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Mgat2-Cdg	Osteopenia, Respiratory distress, Brachydactyly, Pectus excavatum, Scoliosis, Kyphosis	ORPHA:79329
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Toe syndactyly, Limitation of joint mobility, Finger syndacty...	ORPHA:93259
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Joint stiffness, Lumbar hyperlord...	OMIM:277600
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Elbow flexion contracture, Joint stiffness, Thoracic scoliosis, Hypoplastic...	OMIM:252940
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Fetal Akinesia Deformation Sequence 1	Thin ribs, Congenital contracture, Slender long bone, Decreased muscle mass, Camptodactyly of fin...	OMIM:208150
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Micrognathia, Hypoventilation, Polydactyly, Prominent metopic ridge	ORPHA:314655
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea, Dyspnea, Tracheomalacia	ORPHA:60032
Boomerang Dysplasia	Absent radius, Neonatal death, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow...	OMIM:151050
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Respiratory distress, Contracture of the distal interphalang...	ORPHA:83617
Chronic Pneumonitis Of Infancy	Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions	ORPHA:91359
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Death in infancy	OMIM:614299
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertroph...	OMIM:618733
Alpha-Mannosidosis, Infantile Form	Platyspondyly, Osteopenia, Pectus carinatum, Cranial hyperostosis, Talipes valgus, Joint stiffnes...	ORPHA:309282
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea	OMIM:263000
Schinzel-Giedion Syndrome	Overlapping toe, Overlapping fingers, Micrognathia, Radioulnar synostosis, Short neck, Sacrococcy...	ORPHA:798
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Slender finger	OMIM:250940
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Toe syndactyly, Broad thumb, Finger syndactyly, Short toe, Camptodact...	ORPHA:373
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Death in childhood, Death in infancy, Multiple rib fractures...	OMIM:612301
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Respiratory distress, Death in infancy, Myopathy, Death in adolescence, ...	OMIM:615512
Pagod Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Death in infancy, Abnormal rib mor...	ORPHA:991
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna, Neonatal death	OMIM:276822
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea	ORPHA:140896
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia	OMIM:612776
Pfeiffer Syndrome Type 3	Small hand, Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Broad thumb, Tracheo...	ORPHA:93260
Agnathia-Otocephaly Complex	Respiratory distress, Micrognathia, Tracheomalacia, Mandibular aplasia	OMIM:202650
Familial Nasal Acilia	Respiratory distress, Dyspnea	ORPHA:922
Monosomy 9P	Limitation of joint mobility, Abnormality of the vertebral column, Abnormality of the tarsal bone...	ORPHA:261112
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Increased variability in muscle fiber diameter	OMIM:615595
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Small hand, Respiratory distress, Joint hypermobility, Postaxial polydactyly, Hip dysplasia, Shor...	OMIM:300968
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Death in childhood, Weakness of facial musculature, Increased intramyocellu...	OMIM:220110
Myotonic Dystrophy 1	Respiratory distress, Facial diplegia	OMIM:160900
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Dyspnea, Micrognathia	ORPHA:2707
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy	OMIM:619272
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Short finger, Elbow flexion contracture, Broad ribs, Joint stiffness...	OMIM:608328
Myhre Syndrome	Platyspondyly, Cone-shaped epiphysis, Limitation of joint mobility, Clinodactyly, Generalized mus...	OMIM:139210
Floating-Harbor Syndrome	Broad thumb, Short 1st metacarpal, Ivory epiphyses of the distal phalanges of the hand, Short 5th...	OMIM:136140
Cerebrocostomandibular Syndrome	Posterior rib gap, Tracheomalacia, Bell-shaped thorax, Micrognathia, Death in infancy, Clinodacty...	ORPHA:1393
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Broad ribs, Sclerosis of skull base, Increased intervertebral ...	OMIM:619727
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Apnea, Abnormal metaphysis morphology, Bowing of the...	ORPHA:667
Nipah Virus Disease	Respiratory distress	ORPHA:99825
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Acute Lung Injury	Respiratory distress, Tachypnea, Dyspnea	ORPHA:178320
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Joint dislocation, Micrognathia, Aplasia/Hypoplasia of the clav...	ORPHA:3310
Pseudo-Torch Syndrome 2	Thin ribs	OMIM:617397
Coccidioidomycosis	Abnormality of the vertebral column, Respiratory distress, Osteomyelitis, Broad ribs, Abnormal lo...	ORPHA:228123
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respiratory distress, Ap...	ORPHA:17
Alfadhel Syndrome	Nasal flaring, Joint hypermobility	OMIM:620655
Shwachman-Diamond Syndrome 2	Death in childhood, Death in infancy, Metaphyseal widening, Anterior rib cupping, Metaphyseal irr...	OMIM:617941
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Dy...	OMIM:619127
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Arboleda-Tham Syndrome	Narrow chest, Microretrognathia, Sandal gap, Enlarged proximal interphalangeal joints, Respirator...	OMIM:616268
Congenital Pulmonary Lymphangiectasia	Respiratory distress	ORPHA:2414
Arterial Tortuosity Syndrome	Rocker bottom foot, Scoliosis, Respiratory distress, Avascular necrosis of the capital femoral ep...	ORPHA:3342
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Limb hypertonia, Short tibia, Short femur	OMIM:620306
Trisomy 18	Microretrognathia, Deviation of finger, Abnormal rib morphology, Camptodactyly of finger, Abnorma...	ORPHA:3380
Glycogen Storage Disease Due To Acid Maltase Deficiency	Lower limb muscle weakness, Respiratory distress, Left ventricular hypertrophy, Glycogen accumula...	ORPHA:365
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea	ORPHA:264675
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Dyspnea	ORPHA:411703
Mandibulofacial Dysostosis, Guion-Almeida Type	Slender finger, Preaxial hand polydactyly, Respiratory distress, Micrognathia, Proximal placement...	OMIM:610536
Choanal Atresia	Respiratory distress, Craniosynostosis, Tracheomalacia, Polydactyly	ORPHA:137914
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, Delayed cranial suture closure, 11 pairs of ribs, Micrognathia, Hip dysplasia, Cranio...	OMIM:620005
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Flexion contracture, Micrognathia, Rhizomelia	OMIM:616271
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, A...	ORPHA:581
Tetanus	Respiratory distress, Tachypnea, Stiff neck	ORPHA:3299
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan...	ORPHA:348
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
8Q24.3 Microdeletion Syndrome	Short neck, Short hallux, Short 5th finger, Long fingers, Clinodactyly of the 5th finger, Short m...	ORPHA:508488
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Tularemia	Respiratory distress	ORPHA:3392
Thyroid Lymphoma	Respiratory distress, Dyspnea	ORPHA:97285
Japanese Encephalitis	Genu recurvatum, Skeletal muscle atrophy, Abnormal pattern of respiration, Respiratory distress, ...	ORPHA:79139
Oromandibular Dystonia	Respiratory distress, Torticollis	ORPHA:93958
Fryns Syndrome	Thin ribs, Short distal phalanx of finger, Joint contracture of the hand, Microretrognathia, Prom...	OMIM:229850
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress	ORPHA:100057
Acquired Methemoglobinemia	Respiratory distress, Dyspnea	ORPHA:464453
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea, Exercise-induced rhabdomyolysis	ORPHA:26793
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin ribs, Osteopenia, Congenital hip dislocation, Progressive congenital scoliosis, Joint disloc...	OMIM:225400
Oeis Complex	Congenital hip dislocation, Absence of the sacrum, 11 pairs of ribs, Hemivertebrae, Sacral segmen...	OMIM:258040
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea, Myopathy	OMIM:115197
Hallermann-Streiff Syndrome	Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Slende...	OMIM:234100
Limb Body Wall Complex	Progressive congenital scoliosis, Broad hallux, Thoracic hypoplasia, Abnormality of the vertebral...	ORPHA:2369
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Respiratory d...	OMIM:164310
Smith-Lemli-Opitz Syndrome	Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger s...	ORPHA:818
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea	ORPHA:1302
Floating-Harbor Syndrome	Clinodactyly, Short thumb, Avascular necrosis of the capital femoral epiphysis, 11 pairs of ribs,...	ORPHA:2044
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Tachypnea, Dyspnea	ORPHA:36238
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Sandal gap, Small hand, Prominent fingertip pads	OMIM:612863
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Respiratory distress, 11 pairs of ribs, Aplasia...	ORPHA:79500
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Joint hypermobility, Ab...	ORPHA:2907
Infantile Krabbe Disease	Respiratory distress, Ankle clonus, Shoulder girdle muscle weakness	ORPHA:206436
Bacterial Toxic-Shock Syndrome	Respiratory distress, Osteomyelitis, Myositis, Tachypnea, Arthritis, Septic arthritis	ORPHA:36234
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Congenital diaphragmatic hernia, Cervical ribs	ORPHA:2255
Vater/Vacterl Association	Abnormal vertebral morphology, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Abnorm...	OMIM:192350
Prader-Willi Syndrome Due To Translocation	Small hand, Clinodactyly, Respiratory distress, Overlapping toe, Clinodactyly of the 4th finger, ...	ORPHA:177907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Muscular dystrophy, 11 pairs of ribs	OMIM:615287
Rubinstein-Taybi Syndrome 1	Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, Patellar dislo...	OMIM:180849
Slc35A1-Cdg	Respiratory distress	ORPHA:238459
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea, Limb muscle weakness	ORPHA:79241
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Facial hypotonia	ORPHA:438216
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Neonatal death	OMIM:231680
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Broad ribs, Genu valgum, Broad long bone diaphyses, Limited elbow extension, Hyperlordosis, Hip d...	OMIM:301066
Congenital Disorder Of Deglycosylation 1	Small hand, Respiratory distress, Intrinsic hand muscle atrophy, Facial hypotonia, Osteoporosis, ...	OMIM:615273
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Mandibular aplasia	ORPHA:990
Ciliary Dyskinesia, Primary, 2	Respiratory distress	OMIM:606763
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short 4th metacarpal, Abnormal ...	ORPHA:2908
Auriculocondylar Syndrome	Respiratory distress, Mandibular condyle hypoplasia, Micrognathia, Mandibular condyle aplasia	ORPHA:137888
Listeriosis	Respiratory distress, Osteomyelitis, Stiff neck, Rhabdomyolysis, Septic arthritis, Back pain, Mis...	ORPHA:533
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Meconium Aspiration Syndrome	Respiratory distress	ORPHA:70588
Cryptococcosis	Respiratory distress, Osteomyelitis, Limb muscle weakness, Dyspnea, Osteolysis	ORPHA:1546
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Tachypnea	OMIM:610978
Mercury Poisoning	Respiratory distress, Dyspnea	ORPHA:330021
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Tachypnea, Dyspnea, Clubbing	OMIM:610913
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis	ORPHA:1555
Idiopathic Hypereosinophilic Syndrome	Ankle swelling, Skeletal muscle atrophy, Swelling of proximal interphalangeal joints, Respiratory...	ORPHA:3260
Pallister-Killian Syndrome	Small hand, Postaxial foot polydactyly, Delayed cranial suture closure, Micrognathia, Congenital ...	OMIM:601803
Restrictive Dermopathy	Thin ribs, Osteopenia, Camptodactyly of finger, Increased anterioposterior diameter of thorax, Mi...	ORPHA:1662
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Patellar dislocation, Abnormal epiphysis morphology, Kyphosis, Osteomalacia, Joint...	ORPHA:534
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Macroglossia, Left ventricular hypertrophy, Facial hypotonia	ORPHA:308552
Generalized Arterial Calcification Of Infancy	Osteomalacia, Respiratory distress, Abnormal hip joint morphology, Hypophosphatemic rickets, Abno...	ORPHA:51608
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Craniosynostosis, Overlapping toe, Limited elbow extension	OMIM:123790
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Limitation of joint mobility, Camptodactyly of finger, Spinal cana...	ORPHA:217085
Esophageal Atresia	Abnormal vertebral morphology, Clinodactyly, Respiratory distress, Episodic respiratory distress,...	ORPHA:1199
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Respiratory distress, Polydactyly, 2-3 toe syndactyly, Joi...	ORPHA:404448
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Limitation of joint mobility, Camptodactyly of finger, Spinal cana...	ORPHA:217093
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Skeletal muscle atrophy, Painless fractures due to injury, Respiratory distress, Increased suscep...	OMIM:256810
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Macroglossia, Apnea, Myopathy	OMIM:261740
Scimitar Syndrome	Respiratory distress, Abnormality of the vertebral column, Abnormal hemidiaphragm morphology, Hyp...	ORPHA:185
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Ragged-red muscle fibers, Episodic respiratory distress, Dyspnea, Hyperventilation	ORPHA:255210
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Small hand, Slender finger, Limitation of joint mobility, Congenital hip dislocation,...	ORPHA:480880
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy	OMIM:618426
Congenital Enterovirus Infection	Respiratory distress	ORPHA:292
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Osteomyelitis, Myositis	ORPHA:37042
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Facial hypotonia	ORPHA:2131
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Micrognathia, Congenital diaphragmatic hernia, Mandibular aplasia, Dyspnea,...	ORPHA:2556
Alagille Syndrome 1	Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae, ...	OMIM:118450
Cocaine Intoxication	Respiratory distress, Hyperventilation, Tachypnea, Rhabdomyolysis	ORPHA:90068
Neuroblastoma	Respiratory distress, Pathologic fracture	ORPHA:635
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Abnormal vertebral morphology	ORPHA:210122
Rodrigues Blindness	Nasal flaring	OMIM:268320
Charge Syndrome	Bifid femur, Abnormal tibia morphology, Polydactyly, Brachydactyly, Hemivertebrae, Abnormal rib m...	ORPHA:138
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Lujo Hemorrhagic Fever	Respiratory distress, Stiff neck	ORPHA:319213
Ethylene Glycol Poisoning	Tachypnea, Facial palsy, Abnormal pattern of respiration, Episodic respiratory distress	ORPHA:31826
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Respiratory distress, Short l...	OMIM:306955
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Generalized amyotrophy, Hypoplastic ilia, Narrow chest, Clinodactyly, Slender long bon...	OMIM:264090
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea	ORPHA:100050
Townes-Brocks Syndrome	Toe clinodactyly, Abnormal vertebral morphology, Ulnar deviation of finger, Broad thumb, Toe synd...	ORPHA:857
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Wide pubic symphysis, Death in infancy, Vertebral segmentation...	ORPHA:2052
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Narrow chest	OMIM:614748
Complete Atrioventricular Septal Defect	Tachypnea, Intercostal retractions, Right ventricular hypertrophy	ORPHA:1329
Gitelman Syndrome	Respiratory distress, Chondrocalcinosis, Gout, Rhabdomyolysis	ORPHA:358
Brain-Lung-Thyroid Syndrome	Respiratory distress	ORPHA:209905
Q Fever	Respiratory distress, Osteomyelitis	ORPHA:781
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Osteopetrosis, Prominent floating ribs, Pectus excavatum, Recurrent fractures	ORPHA:2785
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Sepsis In Premature Infants	Dyspnea, Nasal flaring	ORPHA:90051
Charge Syndrome	Bifid femur, Scoliosis, Short thumb, Absent radius, Micrognathia, Down-sloping shoulders, Hand po...	OMIM:214800
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Dyspnea, Back pain	ORPHA:340
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea, Left ventricular hypertrophy	ORPHA:2299
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring, Brachydactyly, Short palm	ORPHA:466943
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Osteoporosis, Dyspnea, Abnormal fingertip morphology	ORPHA:79404
Colchicine Poisoning	Respiratory distress	ORPHA:31824
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress	ORPHA:79282
Congenital Total Pulmonary Venous Return Anomaly	Paroxysmal dyspnea, Respiratory distress, Increased anterioposterior diameter of thorax, Apneic e...	ORPHA:99125
Toxic Epidermal Necrolysis	Respiratory distress	ORPHA:537
Congenital Tracheomalacia	Intercostal retractions, Tracheomalacia, Apnea, Dyspnea, Tracheobronchomalacia	ORPHA:95430
Kasabach-Merritt Phenomenon	Respiratory distress, Hypopnea	ORPHA:2330
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress	OMIM:305100
Nocardiosis	Respiratory distress, Osteomyelitis, Dyspnea	ORPHA:31204
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Leptospirosis	Respiratory distress, Rhabdomyolysis	ORPHA:509
Congenital Tracheal Stenosis	Respiratory distress, Dyspnea	ORPHA:141127
Tuberous Sclerosis Complex	Respiratory distress	ORPHA:805
Eisenmenger Syndrome	Respiratory distress, Exertional dyspnea, Clubbing	ORPHA:97214
Plague	Respiratory distress, Arthritis, Abnormality of the elbow	ORPHA:707
Pmm2-Cdg	Platyspondyly, Osteopenia, Respiratory distress, Multiple joint contractures, Joint hypermobility...	ORPHA:79318
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress	ORPHA:95455
Alström Syndrome	Short toe, Short finger, Respiratory distress, Thoracic scoliosis, Lumbar scoliosis, Hyperostosis...	ORPHA:64

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 Myf6

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 Myf6.

No publications found that use IMPC mice or data for Myf6.

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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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