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Gene: Tcf15 MGI:104664

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

transcription factor 15

Synonyms:

bHLH-EC2, Meso1, paraxis

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 Tcf15 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 Tcf15 (0 diseases)
Human diseases predicted to be associated with Tcf15 (854 diseases)

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

The table below shows human diseases predicted to be associated to Tcf15 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Narrow chest, Paraspinal muscle hypertrophy, Lumbar hyperlordosis, Knee flexion contracture, Hip ...	OMIM:602484
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
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Spinal rigidity, Skeletal muscle...	OMIM:300696
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Umbilical hernia, Abnormal f...	ORPHA:2311
Becker Nevus Syndrome	Pectus carinatum, Shoulder girdle muscle atrophy, Abnormal tibia morphology, Rib fusion, Supernum...	ORPHA:64755
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebral segmentation d...	OMIM:277300
Cutis Laxa, Autosomal Recessive, Type Iie	Hearing impairment, Lumbar hyperlordosis, Clinodactyly of the 5th finger, Inguinal hernia, Joint ...	OMIM:619451
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormal pelvic girdle bone morphology, Scoliosis,...	ORPHA:1988
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Spinal rigidity, Increased variability in muscle fiber diameter, Proximal muscle weakness in uppe...	OMIM:619566
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly...	ORPHA:3268
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck...	ORPHA:1797
Cerebrofaciothoracic Dysplasia	Narrow chest, Low-set, posteriorly rotated ears, Vertebral segmentation defect, Rib fusion, Short...	ORPHA:1394
Richieri Costa-Da Silva Syndrome	Pectus carinatum, Vertebral wedging, Decreased muscle mass, Decreased anterioposterior diameter o...	ORPHA:3101
Schwartz-Jampel Syndrome, Type 1	Low-set ears, Joint contracture of the hand, Hip contracture, Bowing of the long bones, Short nec...	OMIM:255800
Stuve-Wiedemann Syndrome 2	Thoracic hypoplasia, Respiratory distress, Neonatal death, Bowing of the long bones, Death in ado...	OMIM:619751
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Firm muscles, Pectus carinatum, Vertebral wedging, Irregular femoral epiphysis, Bell-shaped thora...	OMIM:255710
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Platyspondyly, Narrow chest, Squared iliac bones, Metaphyseal cup...	OMIM:618853
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory distress, Dy...	OMIM:614399
Cutis Laxa, Autosomal Recessive, Type Iiia	Low-set ears, Congenital hip dislocation, Distal amyotrophy, Umbilical hernia, Inguinal hernia, H...	OMIM:219150
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low-set ears, Recurrent otitis media, Overlapping toe, Short neck, Sprengel anomaly, Beaking of v...	OMIM:213980
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Dysplastic patella, Congenital diaphragmatic hernia, Patella...	OMIM:265000
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, Kyphoscoliosis...	OMIM:109400
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai...	OMIM:122600
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Vert...	OMIM:613686
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Neuropathic spinal arthropathy, Reduced muscle fiber alpha dyst...	ORPHA:370968
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Small hand, Shallow acetabular fossae, Short neck, Short foot, Posterior rib gap, O...	OMIM:611209
Autosomal Recessive Multiple Pterygium Syndrome	Low-set ears, Limitation of joint mobility, Finger syndactyly, Hearing impairment, Symphalangism ...	ORPHA:2990
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Low-set ears, Genu valgum, Congenital diaphragmatic hernia, Radioulnar synos...	OMIM:245600
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Bowing of the long bones, ...	ORPHA:628
Metatropic Dysplasia	Narrow chest, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic...	ORPHA:2635
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Arachnodac...	ORPHA:377
Diaphanospondylodysostosis	Respiratory distress, Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ri...	ORPHA:66637
Perching Syndrome	Respiratory distress, Dysphagia, Joint contracture, Camptodactyly, Scoliosis	OMIM:617055
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Muscular dystrophy, Scapular muscle atrophy, Peroneal muscle weakness, Calf muscle hypertrophy, H...	OMIM:611588
Scarf Syndrome	Pectus carinatum, Abnormal form of the vertebral bodies, Umbilical hernia, Low-set, posteriorly r...	ORPHA:3134
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Sensorineural hearing impairment, Head titubation, Dysphagia, Hemiverte...	OMIM:614688
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Carpal synostosis, Dysplasia of the femoral head, Bowing of the long bones,...	OMIM:615349
Myopathy, Centronuclear, 1	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl...	OMIM:160150
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Conductive hearing impairment, Congenital diaphragmatic hernia, Se...	ORPHA:261197
Weaver Syndrome	Broad thumb, Sandal gap, Finger syndactyly, Camptodactyly of finger, Low-set, posteriorly rotated...	ORPHA:3447
Fetal Akinesia Deformation Sequence 4	Low-set ears, Skeletal muscle atrophy, 11 pairs of ribs, Prenatal death, Neonatal death, Short ne...	OMIM:618393
Scarf Syndrome	Lambdoidal craniosynostosis, Pectus carinatum, Coronal craniosynostosis, Low-set ears, Abnormal f...	OMIM:312830
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,...	OMIM:609052
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m...	ORPHA:536516
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Narrow chest, Low-set ears, Hearing impairment, Joint s...	ORPHA:2655
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Hearing impairment, Abnormal shoulder morphology, Congenital...	ORPHA:2345
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Umbilical hernia, Knee dislocation, Macrotia, Redundant skin, Inguinal hernia, Hypere...	OMIM:618000
Aicardi Syndrome	Small hand, Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, H...	ORPHA:50
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ...	OMIM:268310
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Death in infancy, Abnormal rib morphology, A...	ORPHA:1354
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Low-set ears, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovo...	OMIM:151210
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Low-set ears, Abnormal form of the vertebral bodies, Respiratory distress, Overfolded helix, Join...	ORPHA:2759
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra...	OMIM:156550
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Congenital hip dislocation, Decreased muscle mass, Redundant skin, Inguinal hernia, E...	OMIM:612940
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Low-set ears, Hearing impairment, Subluxation of the small joints ...	ORPHA:536471
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ...	OMIM:184260
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Narrow chest, Hearing impairment, Joint stiffness, Femoral bowin...	ORPHA:1860
Aicardi Syndrome	Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hiatus hernia...	OMIM:304050
Rafiq Syndrome	Low-set ears, Joint hypermobility, Aggressive behavior, Short neck, Cutis laxa, Clinodactyly of t...	OMIM:614202
Geroderma Osteodysplastica	Platyspondyly, Pectus carinatum, Hip dislocation, Abnormal epiphysis morphology, Abnormal form of...	ORPHA:2078
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle...	ORPHA:1143
Thanatophoric Dysplasia Type 2	Platyspondyly, Narrow chest, Limitation of joint mobility, Hearing impairment, Redundant skin, En...	ORPHA:93274
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Narrow chest, Hearing impairment, Respiratory distress, Recurrent otitis media, Lu...	OMIM:616482
Man1B1-Cdg	Low-set ears, Pectus carinatum, Joint hypermobility, 2-3 toe syndactyly, Polyphagia, Short neck, ...	ORPHA:397941
Sprengel Deformity	Neck muscle hypoplasia, Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bi...	OMIM:184400
1P36 Deletion Syndrome	Delayed cranial suture closure, Myopathy, Sensorineural hearing impairment, Polyphagia, Foot poly...	ORPHA:1606
Arterial Tortuosity Syndrome	Pectus carinatum, Umbilical hernia, Soft, doughy skin, Congenital diaphragmatic hernia, Hyperexte...	OMIM:208050
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Hyperextensible skin, Joint hypermobility, Arachnodactyly, K...	ORPHA:75496
Cooper-Jabs Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly of finger, U...	ORPHA:1488
Hemihyperplasia, Isolated	Myelomeningocele, Scoliosis, Skeletal muscle hypertrophy	OMIM:235000
Uruguay Faciocardiomusculoskeletal Syndrome	Low-set ears, Congenital hip dislocation, Joint contracture of the hand, Limited elbow movement, ...	OMIM:300280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Left ventricular hypertrophy, Hyperlordosis, Macroglossia, Flexion contractur...	OMIM:613156
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Hearing impairment, Sensorineural hearing impairment, Polyphagia, Short foot, Dysph...	OMIM:607872
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Distal lower limb muscle weakness, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Hy...	OMIM:619764
Schwartz-Jampel Syndrome	Elbow dislocation, Genu valgum, Hip contracture, Myopathy, Bowing of the long bones, Short neck, ...	ORPHA:800
Fibrochondrogenesis 1	Thin ribs, Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad l...	OMIM:228520
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Skeletal muscle atrophy, Slender long bone, Abnormal form of the ve...	ORPHA:1486
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Ankle flexion contracture, Muscular dystrophy, Lower limb muscle weakness, Scapular muscle atroph...	ORPHA:267
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy, Kyphoscoliosis	OMIM:619099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con...	OMIM:608099
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Low-set ears, Narrow chest, Abnormal clavicle morphology, Abnormal epiphysis morph...	ORPHA:93267
Musculocontractural Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Hearing impairment, Decreased muscle mass, Recurrent joint dislocation,...	ORPHA:2953
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Death in early adulthood, Sensorineural hearing impairment, Short meta...	ORPHA:192
Cutis Laxa, Autosomal Recessive, Type Iia	Low-set ears, Congenital hip dislocation, Redundant skin, Inguinal hernia, Excessive wrinkled ski...	OMIM:219200
Myopathy And Diabetes Mellitus	Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak...	ORPHA:2596
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Elbow dislocation, He...	ORPHA:1507
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Calf muscle hypertr...	OMIM:608840
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Joint stiffnes...	ORPHA:1801
Shox-Related Short Stature	Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, Madelung defor...	ORPHA:314795
Muscular Dystrophy, Congenital, 1B	Spinal rigidity, Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakn...	OMIM:604801
Charcot-Marie-Tooth Disease Type 1B	Scoliosis, Skeletal muscle atrophy, Hearing impairment, Skeletal muscle hypertrophy	ORPHA:101082
Kbg Syndrome	Radial deviation of finger, Cervical ribs, Macrotia, Ulnar deviation of the 2nd finger, Thoracic ...	OMIM:148050
Cranioectodermal Dysplasia 4	Short distal phalanx of finger, Narrow chest, Broad distal phalanx of finger, Broad phalanx of th...	OMIM:614378
De Barsy Syndrome	Low-set ears, Osteopenia, Congenital hip dislocation, Dermal translucency, Decreased muscle mass,...	ORPHA:2962
Myotonia Permanens	Limitation of joint mobility, Generalized muscle hypertrophy, Hyperlordosis, Dyspnea, Dysphagia, ...	ORPHA:99735
Odontochondrodysplasia	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Respiratory distress, Dea...	ORPHA:166272
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Premature skin wrinkling, Femoral bowing, Increased susceptibility to ...	OMIM:231070
Progeroid Syndrome, Petty Type	Short distal phalanx of finger, Umbilical hernia, Low-set, posteriorly rotated ears, Redundant sk...	ORPHA:2963
Neuralgic Amyotrophy	Upper limb muscle weakness, Redundant neck skin, Sprengel anomaly, Scapular winging, Upper limb a...	ORPHA:2901
Spondyloepiphyseal Dysplasia Congenita	Hypoplasia of the odontoid process, Hearing impairment, Limited hip movement, Delayed pubic bone ...	OMIM:183900
Lethal Recessive Chondrodysplasia	Narrow chest, Respiratory distress, Flared elbow metaphyses, Generalized osteosclerosis, Short lo...	ORPHA:1423
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor...	ORPHA:239
Craniofaciofrontodigital Syndrome	Pectus carinatum, Osteopenia, Premature skin wrinkling, Respiratory distress, Finger joint hyperm...	ORPHA:363705
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Severe sensorineural hearing impairment, Skeletal muscle atrophy, Respiratory distress, Myopathy,...	ORPHA:254875
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti...	OMIM:613157
Phaver Syndrome	Low-set ears, Aplasia/Hypoplasia of the earlobes, Ulnar deviation of finger, Broad thumb, Conduct...	ORPHA:2876
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Self-injurious behavior, Tapered toe, Macrotia, Inguinal hernia, Sensorineural hearing impairment...	ORPHA:544488
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis, Hearing impairment, Skeletal muscle hypertrophy	ORPHA:99014
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	OMIM:620375
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Hip dislocation, Cutis laxa, Congenital diaphragmatic hernia	OMIM:614100
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Cutaneous finger syndactyly, Humeroradial synostosis, Sensorineur...	OMIM:151050
Rin2 Syndrome	Abnormal sternum morphology, Umbilical hernia, Redundant skin, Increased susceptibility to fractu...	ORPHA:217335
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Apneic episode...	OMIM:605809
Mosaic Trisomy 14	Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Short neck, Abnormal ri...	ORPHA:1703
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnorm...	ORPHA:93351
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Lumbar hy...	OMIM:609616
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Type 2 muscle fiber atrophy, Dysphagia, Apneic episodes precipitated by ill...	OMIM:254210
C Syndrome	Low-set ears, Ulnar deviation of finger, Toe syndactyly, Fused sternal ossification centers, Post...	OMIM:211750
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Osteogenesis Imperfecta	Thin ribs, Hearing impairment, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgu...	ORPHA:666
Fibrochondrogenesis	Low-set ears, Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormal...	ORPHA:2021
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Hearing impairment, Congenital diaphragmatic hernia, Arachnodactyl...	ORPHA:280
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Clinodactyly, Respiratory distress, Scoliosis, Macrotia	OMIM:300934
Macs Syndrome	Umbilical hernia, Redundant skin, Hyperextensible skin, Joint hypermobility, Cutis laxa, Brachyda...	OMIM:613075
Lethal Osteosclerotic Bone Dysplasia	Low-set ears, Delayed cranial suture closure, Respiratory distress, Short neck, Dyspnea, Posterio...	ORPHA:1832
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Hearing impairment, Cortical sclerosis, F...	OMIM:122860
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bones, Osteopenia,...	OMIM:613848
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Increased variability in muscle fiber diameter, Skeletal muscle atrophy	ORPHA:238329
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short ribs, Rib fusion, Mis...	OMIM:271520
Aarskog-Scott Syndrome	Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Low-se...	ORPHA:915
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Shor...	OMIM:253000
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal muscle fiber morph...	ORPHA:3068
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Conductive hearing impairment, Diaphyseal undertubulation, Abnormal ri...	ORPHA:1513
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Preaxial hand polydactyly...	ORPHA:1120
Diaphanospondylodysostosis	Low-set ears, Unossified sacrum, Thoracic hypoplasia, Tracheomalacia, Respiratory distress, Bell-...	OMIM:608022
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Low-set ears, Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Short neck, Co...	OMIM:266920
6P22 Microdeletion Syndrome	Low-set ears, Finger syndactyly, Clinodactyly, Hearing impairment, Redundant skin, Short neck, Ov...	ORPHA:251046
Cutis Laxa-Marfanoid Syndrome	Limitation of joint mobility, Redundant skin, Congenital diaphragmatic hernia, Arachnodactyly, Fl...	ORPHA:171719
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Kyphoscoliosis	OMIM:617977
Ehlers-Danlos Syndrome, Classic Type, 2	Congenital hip dislocation, Soft, doughy skin, Recurrent joint dislocation, Hyperextensible skin,...	OMIM:130010
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the shoulder girdle muscula...	ORPHA:206546
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Neonatal deat...	OMIM:146510
Classical-Like Ehlers-Danlos Syndrome Type 2	Elbow dislocation, Arachnodactyly, Hip dislocation, Macrotia, Osteopenia, Joint dislocation, Knee...	ORPHA:536532
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Skeletal muscle atrophy, Hyperextensible skin, Myopathy, Joint hypermobility, Kyphosc...	ORPHA:300179
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Low-set ears, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Respiratory distress, Horizont...	OMIM:617895
Ogden Syndrome	Low-set ears, Broad hallux, Delayed cranial suture closure, Inguinal hernia, Cutis laxa, Torticol...	ORPHA:276432
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Cutis laxa, Redundant skin, Increased number of skin folds	ORPHA:436274
Ehlers-Danlos Syndrome, Periodontal Type, 2	Joint dislocation, Umbilical hernia, Inguinal hernia, Hyperextensible skin, Joint hypermobility, ...	OMIM:617174
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology, Dysphagia, Impul...	ORPHA:280195
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Low-set ears, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Fl...	OMIM:300232
Achondroplasia	Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Thor...	OMIM:100800
Femoral-Facial Syndrome	Low-set ears, Toe syndactyly, Encephalocele, Humeroradial synostosis, Limited elbow movement, Rad...	OMIM:134780
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Increased endomysial con...	OMIM:620278
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Atlantoaxial dislocation, Dysplasia of the femoral head, Arachnodactyly, Radioulnar...	ORPHA:536467
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	ORPHA:486815
Cardiospondylocarpofacial Syndrome	Soft skin, Low-set ears, Cone-shaped epiphysis, Conductive hearing impairment, Carpal synostosis,...	OMIM:157800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g...	OMIM:606612
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b...	OMIM:250220
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregularity, Narr...	OMIM:602271
Mitochondrial Complex I Deficiency, Nuclear Type 30	Redundant skin, Neonatal death	OMIM:301021
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh...	OMIM:617405
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Kyphosis, Bowing of limbs due to multiple fractures, Decreased c...	OMIM:259440
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Low-set ears, Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, Sh...	OMIM:620369
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Macroglossia, Myopathy, Skeletal muscle hypertrophy, Umbilical hernia	ORPHA:2349
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndacty...	ORPHA:3082
Cutis Laxa, Autosomal Dominant 2	Cutis laxa, Scoliosis, Premature skin wrinkling	OMIM:614434
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Low-set ears, Joint contracture of the hand, Genu valgum, Arachnodactyly, Dislocated r...	OMIM:182212
Muscle Hypertrophy	Skeletal muscle hypertrophy	OMIM:614160
Loeys-Dietz Syndrome 4	Abnormal sternum morphology, Striae distensae, Spondylolisthesis, Hyperextensible skin, Joint hyp...	OMIM:614816
Cutis Laxa, Autosomal Dominant 3	Low-set ears, Osteopenia, Premature skin wrinkling, Delayed cranial suture closure, Os odontoideu...	OMIM:616603
Tetrasomy 5P	Low-set ears, Respiratory distress, Overlapping toe, Clinodactyly of the 5th finger, Redundant ne...	ORPHA:3309
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Aplasia/Hypoplasia of fingers, Dyspnea	ORPHA:141152
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Respiratory distress, Foot dorsiflexor...	OMIM:620011
Klippel-Feil Syndrome 1, Autosomal Dominant	Conductive hearing impairment, Hearing impairment, Congenital muscular torticollis, Cervical C2/C...	OMIM:118100
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Thin ribs, Respiratory distress, Myopathy, Joint hype...	OMIM:300219
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Low-set ears, Osteopenia, Short toe, Umbilical hernia, Soft, doughy skin, Recurrent mandibular su...	OMIM:225410
Cutis Laxa, Autosomal Recessive, Type Ia	Umbilical hernia, Redundant skin, Congenital diaphragmatic hernia, Hyperextensible skin, Joint hy...	OMIM:219100
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Erythema, Abnormal vertebral morphology, Low-set ears, Carpal synost...	OMIM:218600
Occipital Horn Syndrome	Genu valgum, Soft skin, Pectus carinatum, Broad clavicles, Limited elbow extension, Limited knee ...	OMIM:304150
Rippling Muscle Disease 2	Calf muscle hypertrophy, Skeletal muscle hypertrophy	OMIM:606072
Cornelia De Lange Syndrome 6	Low-set ears, Pectus carinatum, Short 1st metacarpal, Macrotia, Inguinal hernia, Down-sloping sho...	OMIM:620568
Meier-Gorlin Syndrome 1	Thin ribs, Low-set ears, Joint contracture of the hand, Small hand, Elbow dislocation, Hearing im...	OMIM:224690
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
3M Syndrome	Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increased vertebral height, ...	ORPHA:2616
White Forelock With Malformations	Finger syndactyly, Low-set, posteriorly rotated ears, Clinodactyly of the 5th finger, Joint hyper...	ORPHA:2475
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Scoliosis, Hypoplasia of the odontoid process, Clinodactyly, Gen...	OMIM:184250
Shprintzen-Goldberg Syndrome	Low-set ears, Elbow dislocation, Genu valgum, Arachnodactyly, Bowing of the long bones, Pectus ca...	ORPHA:2462
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Congenital Myasthenic Syndrome	Low-set ears, Pectus carinatum, Congenital hip dislocation, Distal amyotrophy, Arthrogryposis mul...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Low-set ears, Pectus carinatum, Congenital hip dislocation, Distal amyotrophy, Arthrogryposis mul...	ORPHA:98914
Trichothiodystrophy 8, Nonphotosensitive	Protruding ear, Head titubation, Cutis laxa, Ankle clonus	OMIM:619691
Osteogenesis Imperfecta, Type Iii	Thin ribs, Wide anterior fontanel, Kyphosis, Slender long bone, Hearing impairment, Bowing of lim...	OMIM:259420
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Decreased muscle mass, Acute infantile spinal muscular at...	OMIM:271225
Gapo Syndrome	Umbilical hernia, Delayed cranial suture closure, Bell-shaped thorax, Redundant skin, Joint hyper...	OMIM:230740
Melnick-Needles Syndrome	Craniofacial hyperostosis, Narrow chest, Short distal phalanx of finger, Anisospondyly, Short tho...	ORPHA:2484
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Low-set ears, Hypoplastic cervi...	OMIM:114290
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Pallor, Ragged-red muscle fibers, Dysphagia, Generalized amyotrophy	OMIM:613561
Jeune Syndrome	Narrow chest, Toe syndactyly, Abnormal clavicle morphology, Short thorax, Abnormal sternum morpho...	ORPHA:474
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordos...	ORPHA:2522
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia, Broad femoral neck, Short femoral neck, Abnormal metaphysis morphology...	ORPHA:157965
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617760
Rahman Syndrome	Camptodactyly, Redundant skin, Kyphoscoliosis	OMIM:617537
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Atlantoaxial instability, Skeletal muscle atrophy, Conductive hearing impairment, Hig...	OMIM:614557
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Wrist hypermobility, Inguinal hernia, Joint hypermobility, Sensorineural he...	ORPHA:544503
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Dermal translucency, Prominent ear helix, Elbow flexion contracture, Inguinal hernia,...	OMIM:614438
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral...	OMIM:184252
Schneckenbecken Dysplasia	Platyspondyly, Narrow chest, Hypoplastic scapulae, Thoracic hypoplasia, Stillbirth, Umbilical her...	OMIM:269250
Aldh18A1-Related De Barsy Syndrome	Hyperextensible skin, Joint hypermobility	ORPHA:35664
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy...	OMIM:300580
Grant Syndrome	Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Joint dis...	ORPHA:2097
Spondylo-Ocular Syndrome	Platyspondyly, Low-set ears, Abnormal antihelix morphology, Hyperextensible skin, Joint hypermobi...	ORPHA:85194
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Motor stereotypy, Death in infancy	OMIM:616341
Congenital Muscular Dystrophy With Cerebellar Involvement	Muscular dystrophy, Occipital encephalocele, Reduced muscle fiber alpha dystroglycan, Lumbar hype...	ORPHA:370959
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint...	OMIM:618395
Renpenning Syndrome	Skeletal muscle atrophy, Joint stiffness, Clinodactyly of the 5th finger, Abnormal thumb morpholo...	ORPHA:3242
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Low-set ears, Angel-shaped phalanx, Narrow chest, Short distal phalanx of finger, Sandal gap, Res...	OMIM:617102
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Umbilical hernia	OMIM:254120
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Squared iliac bones, Thoracic hypoplasia, Posterior rib cupping, Metaphyseal spurs...	OMIM:608728
Mohr-Tranebjaerg Syndrome	Progressive sensorineural hearing impairment, Abnormal posturing, Increased susceptibility to fra...	OMIM:304700
Cog1-Cdg	Posterior rib gap, Osteopenia, Low-set, posteriorly rotated ears, Butterfly vertebrae, Vertebral ...	ORPHA:263508
Zttk Syndrome	Low-set ears, Small hand, Cervical ribs, Hyperextensible skin, Joint hypermobility, Rib fusion, P...	OMIM:617140
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Hand muscle weakness, Respiratory distress, Type 1 muscle fiber predomin...	ORPHA:98915
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Bell-shaped thorax, Horizontal ribs, Inguinal hernia, Tachypnea	OMIM:614857
Periodontal Ehlers-Danlos Syndrome	Hyperextensible skin, Joint hypermobility	ORPHA:75392
Rippling Muscle Disease 1	Skeletal muscle hypertrophy	OMIM:600332
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Congenital diaphra...	ORPHA:1834
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Congenital Disorder Of Glycosylation, Type Iir	Low-set ears, Cutis laxa	OMIM:301045
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Death in early adulthood, Type 1 muscle fiber predomi...	OMIM:255160
Wrinkly Skin Syndrome	Low-set ears, Osteopenia, Hypoplasia of the musculature, Congenital hip dislocation, Slender long...	OMIM:278250
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh...	OMIM:614524
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Low-set ears, Congenital hip dislocation, Decreased muscle mass, Redundant skin, Inguinal hernia,...	ORPHA:357074
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Ovoi...	OMIM:253010
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Scoliosis, Congenital contracture, Death in infancy	OMIM:615042
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b...	OMIM:102510
Alg8-Cdg	Low-set ears, Premature skin wrinkling, Cutis laxa, Brachydactyly, Camptodactyly, Macroglossia	ORPHA:79325
Mucopolysaccharidosis Type 4	Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Short thorax, Joint dislocation, ...	ORPHA:582
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Low-set ears, Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly,...	ORPHA:2180
Holt-Oram Syndrome	Broad thumb, Abnormal clavicle morphology, Finger syndactyly, Aplasia/Hypoplasia of the radius, A...	ORPHA:392
Bohring-Opitz Syndrome	Low-set ears, Joint dislocation, Short toe, Dislocated radial head, Overlapping toe, Prominent me...	OMIM:605039
Achondrogenesis Type 1B	Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Umbilical hernia, Short ...	ORPHA:93298
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Low-set ears, Pectus carinatum, Delayed cranial suture closure, Respiratory distress, Overlapping...	OMIM:619383
Severe Congenital Nemaline Myopathy	Thin ribs, Nemaline bodies, Low-set ears, Skeletal muscle atrophy, Abnormal thorax morphology, Fa...	ORPHA:171430
Ogden Syndrome	Low-set ears, Facial wrinkling, Delayed cranial suture closure, Recurrent otitis media, Short nec...	OMIM:300855
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ...	ORPHA:2319
Pelviscapular Dysplasia	Low-set ears, Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of ...	ORPHA:93333
Moebius Syndrome	Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger, Respiratory dis...	OMIM:157900
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Narrow chest, Proximal femoral epiphysiolysis, Respiratory distress, Metaphy...	OMIM:260400
Microphthalmia, Syndromic 3	Butterfly vertebrae, Sensorineural hearing impairment, Missing ribs, Supernumerary ribs, Rib fusi...	OMIM:206900
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Osteopenia, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, ...	OMIM:612350
Greenberg Dysplasia	Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen...	OMIM:215140
Cardiac-Valvular Ehlers-Danlos Syndrome	Severe conductive hearing impairment, Genu valgum, Thoracolumbar scoliosis, Tendon rupture, Joint...	ORPHA:230851
Brown-Vialetto-Van Laere Syndrome 1	Skeletal muscle atrophy, Hearing impairment, Respiratory distress, Nocturnal hypoventilation, Dea...	OMIM:211530
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Sensorineural hearing impairment, Radioulnar synostosis, Short hallux, Mot...	OMIM:194190
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macrogl...	ORPHA:254864
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm	ORPHA:168555
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Muscular dystrophy, Skeletal muscle hypertrophy	OMIM:613158
Myhre Syndrome	Platyspondyly, Craniofacial hyperostosis, Abnormal epiphysis morphology, Hearing impairment, Join...	ORPHA:2588
Fountain Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Erythema, Coarse metaphyseal trabecula...	ORPHA:3219
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Short neck, Hearing impairment, Abnormal rib morphology	ORPHA:2578
Mucopolysaccharidosis, Type Iiia	Hearing impairment, Umbilical hernia, Joint stiffness, Inguinal hernia, Ovoid thoracolumbar verte...	OMIM:252900
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Abnormal bone ossif...	ORPHA:175
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl...	ORPHA:958
Menkes Disease	Metaphyseal spurs, Death in childhood, Joint hypermobility, Wormian bones, Cutis laxa, Metaphysea...	OMIM:309400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hyperextensible skin, Postaxial hand polydactyly	OMIM:615937
Elastosis Perforans Serpiginosa	Cutis laxa	ORPHA:79148
Gaucher Disease Type 2	Respiratory distress, Flexion contracture, Dysphagia, Abnormal pattern of respiration	ORPHA:77260
Robinow Syndrome	Low-set ears, Short distal phalanx of finger, Umbilical hernia, Kyphoscoliosis, Missing ribs, Rib...	ORPHA:97360
10Q22.3Q23.3 Microduplication Syndrome	Low-set ears, Abnormal clavicle morphology, Chronic otitis media, Abnormal rib morphology	ORPHA:276422
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Bone Dysplasia, Lethal Holmgren Type	Narrow chest, Abnormal epiphysis morphology, Joint dislocation, Abnormal diaphysis morphology, Be...	ORPHA:1842
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr...	OMIM:610915
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Skeletal muscle atrophy, Finger syndactyly, Conductive hearing impairm...	ORPHA:2215
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Osteopenia, Low-set ears, Thoracic hypoplasia, Flared metaphysis, Large fleshy ear...	OMIM:616897
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Elbow ankylosis,...	ORPHA:2658
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Flared metaphysi...	OMIM:187601
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Patellar dislocation, Thoracic...	ORPHA:1900
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent otitis media, Hearing impairment, Polydactyly	OMIM:615993
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Low-set ears, Joint dislocation, Short finger, Amyoplasia, Increased susceptibility to...	OMIM:312150
Pleural Mesothelioma	Respiratory distress, Dyspnea, Dysphagia, Abnormal thorax morphology	ORPHA:50251
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short 5th finger, Narrow chest, Short distal phalanx of finger, Triangular shaped dist...	ORPHA:73230
Costello Syndrome	Ulnar deviation of finger, Low-set, posteriorly rotated ears, Large earlobe, Redundant skin, Thic...	ORPHA:3071
Leri Pleonosteosis	Genu recurvatum, Broad thumb, Abnormal epiphysis morphology, Elbow dislocation, Abnormal form of ...	ORPHA:2900
Recombinant 8 Syndrome	Low-set ears, Hearing impairment, Abnormal sternum morphology, Camptodactyly of finger, Clinodact...	ORPHA:96167
Dysosteosclerosis	Hearing impairment, Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubul...	OMIM:224300
Dystonia 31	Dysphagia, Abnormal posturing	OMIM:619565
Wrinkly Skin Syndrome	Low-set ears, Osteopenia, Congenital hip dislocation, Decreased muscle mass, Umbilical hernia, In...	ORPHA:2834
Myhre Syndrome	Low-set ears, Limitation of joint mobility, Clinodactyly, Hearing impairment, Hypoplastic iliac w...	OMIM:139210
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
Achondrogenesis, Type Ia	Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morp...	OMIM:200600
Renal Hypodysplasia/Aplasia 2	Redundant skin	OMIM:615721
Craniometadiaphyseal Dysplasia	Low-set ears, Osteopenia, Wide anterior fontanel, Flared metaphysis, Broad long bones, Broad ribs...	OMIM:269300
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Narrow chest, Low-set ears, Metaphyseal spurs, Umbilical he...	OMIM:618188
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Large placenta, Diastasis recti, Inguinal...	ORPHA:254528
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Erythema, Limitation of joint mobility, Redundant skin, Arthropathy, Wormian bones, O...	OMIM:259100
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia...	ORPHA:2911
Cleidocranial Dysplasia	Hypoplastic scapulae, Hearing impairment, Genu valgum, Decreased skull ossification, Abnormal met...	ORPHA:1452
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Narrow chest, Tracheomalacia, Clinodactyly, Respiratory distress, Redundant neck skin, Short neck...	OMIM:217980
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu...	ORPHA:85184
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Cutis laxa, Redundant skin	ORPHA:91135
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Hearing impairment, Redundant skin, Inguinal hernia, Joint hypermobility, Abno...	ORPHA:1252
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert...	ORPHA:2234
Congenital Disorder Of Glycosylation, Type Iq	Low-set ears, Dry skin, Cutis laxa, Dysphagia	OMIM:612379
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Hypoplastic iliac body, Shor...	OMIM:271640
Auriculocondylar Syndrome 2A	Low-set ears, Cleft at the superior portion of the pinna, Hearing impairment, Respiratory distres...	OMIM:614669
Granulomatous Slack Skin	Erythema, Cutis laxa, Redundant skin	ORPHA:33111
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Low-set ears, Flared metaphysis, Broad long bones,...	ORPHA:2347
Brachytelephalangic Chondrodysplasia Punctata	Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Stippling of the epiph...	ORPHA:79345
Achondrogenesis Type 1A	Narrow chest, Abnormal enchondral ossification, Umbilical hernia, Multiple rib fractures, Short n...	ORPHA:93299
Cranioectodermal Dysplasia 2	Low-set ears, Narrow chest, Clinodactyly, Horizontal ribs, Metopic synostosis, Short ribs, Polyda...	OMIM:613610
Diamond-Blackfan Anemia 10	Low-set ears, Morgagni diaphragmatic hernia, Conductive hearing impairment, Hearing impairment, A...	OMIM:613309
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Low-set ears, ...	OMIM:300863
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Hearing impairment, Partial fusion of...	OMIM:305620
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormal pelvic girdle bone morphology, Slender long bone, Abn...	ORPHA:1506
Three M Syndrome 2	Thin ribs, Pectus carinatum, Short 5th finger, Clinodactyly, Slender long bone, Lumbar hyperlordo...	OMIM:612921
Arthrochalasia Ehlers-Danlos Syndrome	Joint dislocation, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, Inguinal...	ORPHA:1899
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Conductive hearing impairment, Low-set, posteriorly rotated ears, Avascular ne...	ORPHA:502
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Myopathy	ORPHA:26792
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Low-set ears, Joint dislocation, Short finger, Amyoplasia, Increased susceptibility to...	OMIM:253290
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Respiratory distress, Broad ribs, Osteomyelitis, Joint swelling, Flaring...	OMIM:612852
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Hearing impairment, Hypoplastic iliac wing, Delayed pubic bone ossification...	OMIM:119600
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Recurrent otitis media, Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia...	OMIM:250420
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Redundant skin	ORPHA:1779
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Thoracic hypopla...	OMIM:187600
Trichorhinophalangeal Syndrome, Type Ii	Low-set ears, Rib exostoses, Hearing impairment, Recurrent otitis media, Dry skin, Redundant skin...	OMIM:150230
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,...	ORPHA:3258
Cutis Laxa, Autosomal Recessive, Type Ib	Low-set ears, Dermal translucency, Congenital diaphragmatic hernia, Inguinal hernia, Hypoplasia o...	OMIM:614437
Schinzel-Giedion Syndrome	Low-set ears, Abnormal helix morphology, Overlapping toe, Overlapping fingers, Radioulnar synosto...	ORPHA:798
Mosaic Trisomy 8	Narrow chest, Limitation of joint mobility, Hearing impairment, Camptodactyly of finger, Patellar...	ORPHA:96061
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Left ventricular noncompaction	OMIM:613642
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia, Axial muscle stiffness	ORPHA:240085
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra...	OMIM:615633
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Hearing impairment, Broad ribs, Joint stiffness, Genu valgum, Short neck, M...	ORPHA:583
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd...	ORPHA:887
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Multiple joint contractures, Hyperlordosis, Torticollis, Dysphagia, Facial pa...	OMIM:128100
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Low-set ears, Hearing impairment, Recurrent otitis media, Ovoid thoracolumb...	OMIM:252940
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Dry skin, Genu valgum, Redundant skin, Excessive wrinkled skin...	ORPHA:1340
Arterial Tortuosity Syndrome	Rocker bottom foot, Scoliosis, Macrotia, Respiratory distress, Avascular necrosis of the capital ...	ORPHA:3342
Coffin-Lowry Syndrome	Pectus carinatum, Bifid sternum, Kyphosis, Hearing impairment, Inguinal hernia, Sensorineural hea...	OMIM:303600
Osteogenesis Imperfecta, Type Ii	Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long...	OMIM:166210
Cat-Eye Syndrome	Hip dysplasia, Hearing impairment, Abnormal rib morphology	ORPHA:195
Elastoderma	Cutis laxa, Premature skin wrinkling	ORPHA:228240
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Respiratory distress, Broad ribs, Redundant neck skin, Short ribs, A...	ORPHA:2519
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Morgagni diaphragmatic hernia, Tracheomalacia, Sandal gap, Umbilical hernia, Posterol...	OMIM:613177
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Hearing impairment, Recurrent o...	OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Spinal rigidity, Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital c...	OMIM:613150
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Joint hypermobility, Decreased calvarial ossification, Abnorma...	ORPHA:2772
Emanuel Syndrome	Low-set ears, Congenital hip dislocation, Abnormality of the ankle, Hearing impairment, Macrotia,...	ORPHA:96170
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set ears, Occipital encephalocele, Twelfth rib hypoplasia, Bell-shaped thorax, Tachypnea, Lon...	ORPHA:397715
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
X-Linked Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Respiratory distress, Weakness of facial musculature,...	ORPHA:596
Lipodystrophy, Familial Partial, Type 4	Miscarriage, Skeletal muscle hypertrophy	OMIM:613877
Autosomal Dominant Cutis Laxa	Genu recurvatum, Osteopenia, Low-set ears, Premature skin wrinkling, Delayed cranial suture closu...	ORPHA:90348
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi...	ORPHA:90652
Stuve-Wiedemann Syndrome 1	Thin ribs, Low-set ears, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplas...	OMIM:601559
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Left ventricular hypertrophy, Death in infancy, Sensorineural hearing impai...	OMIM:616974
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Abnormal rib morphology, Pectus excava...	ORPHA:2970
Lethal Congenital Contracture Syndrome 10	Low-set ears, Increased variability in muscle fiber diameter, Narrow chest, Stiff neck, Broad rib...	OMIM:617022
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Shoulder girdle muscle weakness, Nocturnal hypoventilation, Calf muscle hyper...	OMIM:607155
Osteogenesis Imperfecta, Type Xv	Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios...	OMIM:615220
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hearing impairment, Hypoplastic iliac w...	OMIM:253200
Congenital Diaphragmatic Hernia	Respiratory distress, Prominent sternum, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of t...	ORPHA:2140
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib...	OMIM:619698
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Huntington Disease-Like 1	Abnormal shoulder morphology, Restlessness, Abnormal posturing	ORPHA:157941
Myotonia Congenita, Autosomal Recessive	Muscle hypertrophy of the lower extremities, Dysphagia, Skeletal muscle hypertrophy	OMIM:255700
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Radial bowing, Flared metaphysis, Irre...	OMIM:602111
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Atresia of the external auditory canal, Auricular tag...	ORPHA:672
Carpenter Syndrome 2	Low-set ears, Broad thumb, Cutaneous finger syndactyly, Sensorineural hearing impairment, Short n...	OMIM:614976
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Low-set ears, Abnormality of the ca...	ORPHA:163966
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Abnormal antihelix morphology, Brachydactyly, Split hand, Abnormal rib morphol...	ORPHA:2145
Focal Facial Dermal Dysplasia Type Iii	Abnormal sacroiliac joint morphology, Redundant skin	ORPHA:1807
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Brachydactyly, Short metatarsal, Sh...	OMIM:600705
Episodic Ataxia Type 1	Respiratory distress, Scoliosis, Calf muscle hypertrophy, Kyphoscoliosis	ORPHA:37612
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur...	ORPHA:254361
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Myopathy	ORPHA:91130
Neonatal Marfan Syndrome	Low-set ears, Pectus carinatum, Crumpled ear, Joint hypermobility, Arachnodactyly, Long toe, Cuti...	ORPHA:284979
Mucopolysaccharidosis, Type Iiic	Hearing impairment, Joint stiffness, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of ve...	OMIM:252930
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Muscular dystrophy, Small hand, Upper limb undergrowth, Respiratory di...	OMIM:608799
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbilical hernia, Respiratory dis...	ORPHA:226313
Frank-Ter Haar Syndrome	Low-set ears, Delayed cranial suture closure, Anterior concavity of thoracic vertebrae, Bowing of...	OMIM:249420
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Skeletal muscle atrophy, Abnormal thorax morphology, Neonatal deat...	OMIM:253310
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Low-set ears, Hydranencephaly, Redundant neck skin, Neonatal death, 2-3 toe syndactyly, Short nec...	OMIM:236500
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Osteoglophonic Dysplasia	Low-set ears, Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phal...	OMIM:166250
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Absent thumb, Slender long bone, Hearing impairment, Cervical ribs, Soft, doughy sk...	ORPHA:500150
Fibrinolytic Defect	Hyperextensible skin	OMIM:134900
Congenital Disorder Of Glycosylation, Type Ig	Short tibia, Sandal gap, Respiratory distress, Butterfly vertebrae, Short humerus, Short ribs, Se...	OMIM:607143
Trisomy 13	Low-set ears, Narrow chest, Abnormal pelvic girdle bone morphology, Abnormal helix morphology, Ec...	ORPHA:3378
Kagami-Ogata Syndrome	Thin ribs, Bell-shaped thorax, Diastasis recti, Inguinal hernia, Kyphoscoliosis, Long fingers, Om...	OMIM:608149
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Erythema, Internally rotated shoulders, Dry skin, Recurrent otitis media, Hip contr...	OMIM:619503
Cardiac Valvular Dysplasia, X-Linked	Joint stiffness, Cutis laxa, Joint hypermobility	OMIM:314400
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Umbilical hernia, Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bow...	OMIM:617952
Vertebral Hypersegmentation And Orofacial Anomalies	Inguinal hernia, Joint hypermobility, Supernumerary ribs, Six lumbar vertebrae, Scapular winging,...	OMIM:619122
Mucopolysaccharidosis, Type Iiib	Hearing impairment, Joint stiffness, Aggressive behavior, Ovoid thoracolumbar vertebrae, Hyperact...	OMIM:252920
Cutis Laxa, Autosomal Recessive, Type Iid	Low-set ears, Redundant skin, Inguinal hernia, Kyphoscoliosis, Protruding ear, Cutis laxa, Joint ...	OMIM:617403
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Narrow chest, Conductive hearing impairment, Hearing impairment, Decre...	OMIM:616229
C Syndrome	Hypoplasia of the ear cartilage, Toe syndactyly, Limitation of joint mobility, Joint dislocation,...	ORPHA:1308
Radio-Renal Syndrome	Abnormal form of the vertebral bodies, Respiratory distress, Short neck, Hypoplasia of the radius...	ORPHA:3015
Cranioectodermal Dysplasia 3	Narrow chest, 2-4 toe syndactyly, Sandal gap, Dry skin, Joint hypermobility, 2-3 toe syndactyly, ...	OMIM:614099
Opsismodysplasia	Low-set ears, Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Anterior rib cu...	OMIM:258480
Ehlers-Danlos Syndrome, Classic Type, 1	Soft skin, Joint dislocation, Umbilical hernia, Inguinal hernia, Hyperextensible skin, Joint hype...	OMIM:130000
Kagami-Ogata Syndrome	Limitation of joint mobility, Thoracic hypoplasia, Bell-shaped thorax, Large placenta, Diastasis ...	ORPHA:254519
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Hearing impairment...	ORPHA:1647
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology	ORPHA:2643
Atelosteogenesis, Type I	Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Encephalocel...	OMIM:108720
Cole-Carpenter Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Joint hypermobility, Bowing of the long bones, W...	ORPHA:2050
Acetazolamide-Responsive Myotonia	Dysphagia, Skeletal muscle hypertrophy	ORPHA:99736
Acromesomelic Dysplasia 4	Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bo...	OMIM:619636
Immunodeficiency 49	Wormian bones, Cutis laxa, Posteriorly rotated ears, Umbilical hernia	OMIM:617237
Mucopolysaccharidosis-Plus Syndrome	Pectus carinatum, Respiratory distress, Acetabular dysplasia, Death in childhood, Flared iliac wi...	OMIM:617303
Macular Degeneration, Age-Related, 3	Distal amyotrophy, Hyperextensible skin, Joint hypermobility	OMIM:608895
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Hearing impairment, Genu valgum, Sensorineural hearing impairment, Dys...	ORPHA:581
Kyphoscoliotic Ehlers-Danlos Syndrome	Low-set ears, Hearing impairment, Myopathy, Sensorineural hearing impairment, Arachnodactyly, Hip...	ORPHA:536545
Hurler Syndrome	Abnormal vertebral morphology, Limitation of joint mobility, Abnormal clavicle morphology, Abnorm...	ORPHA:93473
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Osteopenia, Hypoplasia of the musculature, Small hypothenar eminence, Thin metatarsal ...	ORPHA:2463
Brody Disease	Flexion contracture, Skeletal muscle hypertrophy	OMIM:601003
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Anterior ri...	OMIM:271665
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morp...	OMIM:602196
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Lower limb undergrowth, Tibial bowing, Bowing of the long bones, Abnormal fibula m...	ORPHA:3035
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared...	ORPHA:93352
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Dry skin, Cutis laxa, Scaling skin	ORPHA:2269
Myotonia, Potassium-Aggravated	Apneic episodes in infancy, Skeletal muscle atrophy, Skeletal muscle hypertrophy	OMIM:608390
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Low-set ears, Hypoplastic scapulae, Limitation of joint mobility, ...	ORPHA:95699
Acrofrontofacionasal Dysostosis 2	Low-set ears, Broad thumb, Broad hallux, Sacral dimple, Redundant neck skin, Hand polydactyly, Ov...	OMIM:239710
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Death in early adulthood, Myopathy, Death in infancy, Flexion contractur...	ORPHA:682
Specific Granule Deficiency 2	Low-set ears, Osteopenia, Sandal gap, Recurrent otitis media, Death in childhood, Hyperextensible...	OMIM:617475
Holzgreve Syndrome	Macrotia, Low-set, posteriorly rotated ears, Joint stiffness, Abnormal morphology of ulna, Hand p...	ORPHA:2167
Immunodeficiency 95	Respiratory distress	OMIM:619773
Mgat2-Cdg	Osteopenia, Prominent antihelix, Abnormal earlobe morphology, Respiratory distress, Low-set, post...	ORPHA:79329
Acrorenal-Mandibular Syndrome	Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi...	OMIM:200980
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Large placenta, Diastasis recti, Omphalocele, Coat hanger ...	ORPHA:254534
Antley-Bixler Syndrome	Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Low-set, posteriorly rotat...	ORPHA:83
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Abnormal helix morphology, Hearing impairment, Bell-shaped thorax, Epiphyseal stipp...	OMIM:214100
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Genu recurvatum, Inguinal hernia, Hyperextensible skin, Joint hypermobility, Pectus excavatum, Ca...	OMIM:225320
Hypophosphatasia	Narrow chest, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abnormal metap...	ORPHA:436
Gaucher Disease, Perinatal Lethal	Low-set ears, Arthrogryposis multiplex congenita, Thoracic hypoplasia, Respiratory distress, Apne...	OMIM:608013
Trisomy 1Q	Low-set ears, Toe syndactyly, Abnormal rib morphology, Camptodactyly of finger, Preaxial hand pol...	ORPHA:261344
Viss Syndrome	Low-set ears, Recurrent joint dislocation, Genu valgum, Contracture of the proximal interphalange...	OMIM:619472
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Broad hallux, Short neck, Cutis laxa, Brachydactyly, Syndactyly	OMIM:614800
Monosomy 9Q22.3	Low-set ears, Abnormality of the vertebral column, Umbilical hernia, Metopic synostosis, Polydact...	ORPHA:77301
Paramyotonia Congenita	Skeletal muscle hypertrophy	OMIM:168300
Gapo Syndrome	Asymmetry of the thorax, Low-set ears, Abnormal pelvic girdle bone morphology, Abnormal clavicle ...	ORPHA:2067
Bent Bone Dysplasia Syndrome 2	Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ...	OMIM:620076
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Low-set ears, Arachnodactyly, Radioulnar synostosis, Bowing of the long bones, Absent earlobe, Di...	OMIM:130070
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Kyphosis, Elbow dislocation, Abnormal rib morphology, Abnormal fo...	ORPHA:2769
Alg12-Cdg	Sandal gap, Overlapping fingers, Clinodactyly of the 5th finger, Redundant skin, Sensorineural he...	ORPHA:79324
Camptodactyly Syndrome, Guadalajara Type 3	Sternocleidomastoid amyotrophy, Small hand, Osteopenia, Broad femoral neck, Thickened cortex of l...	ORPHA:488434
Short Stature-Micrognathia Syndrome	Broad femoral neck, Skeletal muscle hypertrophy, Joint hypermobility, 2-3 toe syndactyly, Metaphy...	OMIM:617164
Achondrogenesis, Type Ii	Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ...	OMIM:200610
Cole-Carpenter Syndrome 2	Thin ribs, Osteopenia, Coronal craniosynostosis, Lambdoidal craniosynostosis, Platyspondyly, Kyph...	OMIM:616294
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Delayed cranial suture closure, Humerus varus, Genu valgum, A...	ORPHA:198
Alagille Syndrome	Short distal phalanx of finger, Abnormal form of the vertebral bodies, Clinodactyly of the 5th fi...	ORPHA:52
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Low-set ears, Unossified sacrum...	ORPHA:3003
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Joint dislocation, Osteomalacia, Abnormal joint morphology, Avascular necros...	ORPHA:1901
Fontaine Progeroid Syndrome	Platyspondyly, Coronal craniosynostosis, Short distal phalanx of finger, Dermal translucency, Low...	OMIM:612289
Cantú Syndrome	Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Umbilical hernia,...	ORPHA:1517
Classical-Like Ehlers-Danlos Syndrome Type 1	Spina bifida occulta, Skeletal muscle atrophy, Hyperextensible skin, Joint hypermobility	ORPHA:230839
Lissencephaly Syndrome, Norman-Roberts Type	Low-set ears, Respiratory distress, Adducted thumb, Rocker bottom foot, Dysphagia	ORPHA:89844
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Left ventricular hypertrophy, Hearing impairment	OMIM:616733
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Striae distensae, Hyperextensible skin, Joint hypermobility, Osteoarthritis, S...	OMIM:130020
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Conductive hearing impairment, Abnormality of the vertebral column, Abnormal ri...	OMIM:601076
Chromosome 18P Deletion Syndrome	Toe syndactyly, Radial deviation of finger, Barrel-shaped chest, Redundant neck skin, Short neck,...	OMIM:146390
Van Den Ende-Gupta Syndrome	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Ar...	OMIM:600920
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Fibular aplasia, Arachnodactyly, Craniofacial osteos...	OMIM:300373
Garg-Mishra Progeroid Syndrome	Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S...	OMIM:620601
Multiple Synostoses Syndrome 1	Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Lower li...	OMIM:186500
Ear-Patella-Short Stature Syndrome	Low-set ears, Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Elbow dislocat...	ORPHA:2554
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Slender long bone, Low-set, posteriorly rotated ears, Hyperextensible skin, Join...	ORPHA:1185
Farber Disease	Skeletal muscle atrophy, Short toe, Abnormal sternum morphology, Short finger, Respiratory distre...	ORPHA:333
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Low-set ears, Butterfly vertebrae, Diastasis recti, Neonatal death, Omphalocele, Posterior rib fu...	OMIM:265380
Fibrous Dysplasia Of Bone	Hearing impairment, Osteomalacia, Abnormal tibia morphology, Bowing of the long bones, Abnormal m...	ORPHA:249
Zaki Syndrome	Broad distal phalanx of finger, Toe syndactyly, Cupped ear, Ectrodactyly, Hypoplasia of the phala...	OMIM:619648
Gm1-Gangliosidosis, Type I	Joint stiffness, Inguinal hernia, Death in infancy, Hypoplastic vertebral bodies, Short neck, Bea...	OMIM:230500
Microlissencephaly-Micromelia Syndrome	Respiratory distress, 11 pairs of ribs, Adducted thumb, Short neck	ORPHA:50810
Nestor-Guillermo Progeria Syndrome	Thin ribs, Pathologic fracture, Dry skin, Joint stiffness, Mandibular osteolysis, Limited elbow m...	OMIM:614008
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon...	OMIM:252600
Osteogenesis Imperfecta, Type Vii	Osteopenia, Narrow chest, Wide anterior fontanel, Crumpled long bones, Delayed cranial suture clo...	OMIM:610682
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Thin ribs, Congenital contracture, Death in infancy, ...	OMIM:615368
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Short neck, Cervical he...	ORPHA:508498
Gm1 Gangliosidosis Type 1	Platyspondyly, Pectus carinatum, Low-set ears, Hearing impairment, Beaking of vertebral bodies T1...	ORPHA:79255
Combined Oxidative Phosphorylation Deficiency 2	Low-set ears, Brachydactyly, Redundant neck skin, Neonatal death	OMIM:610498
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal rib morphology	ORPHA:93941
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Narrow chest, Short tibia, Preaxial polydactyly, Horizontal ribs, Long thorax, Shor...	OMIM:617925
Short-Rib Thoracic Dysplasia 12	Low-set ears, Hypoplastic scapulae, Neonatal death, Short neck, Short foot, Abnormal pinna morpho...	OMIM:269860
Simpson-Golabi-Behmel Syndrome	Abnormal helix morphology, Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphragmat...	ORPHA:373
Alpha-Mannosidosis, Infantile Form	Genu valgum, Myopathy, Sensorineural hearing impairment, Short neck, Bilateral coxa valga, Hypopl...	ORPHA:309282
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Dysphagia, Hypoglycosylation of alpha-dystroglycan, Progressive hearing imp...	OMIM:620166
Noonan Syndrome 8	Low-set ears, Abnormal sternum morphology, Hyperextensible skin, Palmoplantar cutis laxa, Left ve...	OMIM:615355
Chitayat Syndrome	Tracheomalacia, Respiratory distress, Hallux valgus, Brachydactyly, Pectus excavatum	OMIM:617180
Lymphangiectasia, Intestinal	Prominent floating ribs, Stillbirth	OMIM:152800
Sclerosteosis 1	Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Hearing impairment,...	OMIM:269500
Noonan Syndrome With Multiple Lentigines	Pectus carinatum, Severe sensorineural hearing impairment, Low-set, posteriorly rotated ears, Exc...	ORPHA:500
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Platyspondyly, Scoliosis, Abnormal epiphysis morphology, Metap...	ORPHA:85167
Williams Syndrome	Synostosis of joints, Genu valgum, Death in early adulthood, Myopathy, Sensorineural hearing impa...	ORPHA:904
Campomelia, Cumming Type	Clubbing of toes, Abnormal thorax morphology, Death in infancy, Bowing of the long bones, Brachyd...	ORPHA:1318
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Recurrent otitis media, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femo...	OMIM:608940
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Delayed cranial suture closure, Decreased skull ossification, Stenosis of ...	ORPHA:93324
Stiff Person Spectrum Disorder	Lumbar hyperlordosis, Paraspinal muscle hypertrophy	ORPHA:3198
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Low-set ears, Clinodactyly, Overfolded helix, Redundant neck skin, Joint hypermobility, Posterior...	OMIM:617360
Myotonia Congenita, Autosomal Dominant	Skeletal muscle hypertrophy	OMIM:160800
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Sensorineural hearing impairment, Bowing of the long b...	ORPHA:89936
Primary Dystonia, Dyt4 Type	Respiratory distress, Dysphagia, Torticollis, Kyphoscoliosis	ORPHA:98805
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Respiratory distress, Death in infancy, Myopathy,...	OMIM:604377
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Sensorineural hearing impairment, Simple ear, Wri...	OMIM:618733
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Dyspnea, Tracheobronchomalacia, Right ventricular hypertrophy	ORPHA:70589
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hearing impairment, Hypoplastic iliac win...	OMIM:609945
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy	ORPHA:2348
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Recurrent joint dislocation, Inguinal hernia, Hyperextensible skin, Joint hypermobility, Dermal t...	OMIM:619115
Pparg-Related Familial Partial Lipodystrophy	Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Myopathy, Skeletal musc...	ORPHA:79083
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Osteopenia, Scoliosis, Contractures of the large joints	ORPHA:329178
Mogs-Cdg	Respiratory distress, Overlapping fingers, Apnea, Hypoventilation, Thoracic scoliosis, Sensorineu...	ORPHA:79330
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Dysphagia	ORPHA:240103
Ehlers-Danlos Syndrome, Classic-Like, 1	Joint subluxation, Striae distensae, Hyperextensible skin, Joint hypermobility, Hiatus hernia, Pr...	OMIM:606408
Congenital Generalized Lipodystrophy	Macroglossia, Bone cyst, Skeletal muscle hypertrophy	ORPHA:528
Beckwith-Wiedemann Syndrome	Otosclerosis, Hearing impairment, Abnormal earlobe morphology, Umbilical hernia, Large placenta, ...	ORPHA:116
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Mixed he...	OMIM:606164
Aspergillosis	Abnormality of the vertebral column, Osteomyelitis, Abnormal long bone morphology, Abnormal rib m...	ORPHA:1163
Arboleda-Tham Syndrome	Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr...	OMIM:616268
Succinic Acidemia	Respiratory distress	OMIM:600335
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Malaria	Respiratory distress	ORPHA:673
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Low-set ears, Postaxial foot polydactyly, Hearing impairment, Large earlobe, Overlapping fingers,...	OMIM:301056
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum...	OMIM:276820
Kyphomelic Dysplasia	Platyspondyly, Low-set ears, Limitation of joint mobility, Thoracic hypoplasia, Radial bowing, Fl...	OMIM:211350
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Umbilical hernia, Elbow flexion contracture, Broad ribs, Short finge...	OMIM:608328
Macrocephaly/Autism Syndrome	Recurrent otitis media, Cutis laxa, Joint hypermobility	OMIM:605309
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin ribs, Osteopenia, Congenital hip dislocation, Progressive congenital scoliosis, Joint disloc...	OMIM:225400
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Decreased calvarial ossification, Brachydactyly, Craniosynostosis, ...	OMIM:618265
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea, Sensorineural hearing impairment	ORPHA:79097
Ehlers-Danlos Syndrome, Periodontal Type, 1	Joint dislocation, Umbilical hernia, Inguinal hernia, Hyperextensible skin, Generalized joint hyp...	OMIM:130080
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Dysphagia, Abnormal skeletal muscle morphology	ORPHA:142
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Cutis laxa	OMIM:610842
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal joint morphology, Dry skin, Lumbar scoliosis, Short neck, Abnormal bone ossification, Me...	ORPHA:99646
Williams-Beuren Syndrome	Osteopenia, Umbilical hernia, Recurrent otitis media, Large earlobe, Clinodactyly of the 5th fing...	OMIM:194050
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Low-set ears, Small hand, Hearing impairment, Respiratory distress, Joint hypermobility, Postaxia...	OMIM:300968
8Q24.3 Microdeletion Syndrome	Branchial cyst, Short neck, Short hallux, Tics, Dysphagia, Short 5th finger, Inguinal hernia, Hyp...	ORPHA:508488
Monosomy 9P	Low-set ears, Limitation of joint mobility, Abnormality of the vertebral column, Abnormal rib mor...	ORPHA:261112
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Soft, doughy skin, Broad ribs, J...	ORPHA:370930
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pectus carinatum, Respiratory distress, Joint stiffness, Lumbar hyperlordosis, Barrel-shaped ches...	ORPHA:505248
Rubinstein-Taybi Syndrome 1	Low-set ears, Broad thumb, Hearing impairment, Delayed cranial suture closure, Hypoplastic iliac ...	OMIM:180849
Adnp Syndrome	Low-set ears, Broad thumb, Oral-pharyngeal dysphagia, Polyphagia, Abnormal finger morphology, Ing...	ORPHA:404448
Restrictive Dermopathy 2	Respiratory distress, Overtubulated long bones, Short clavicles	OMIM:619793
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow chest, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Stillbirth, Bell-shaped t...	OMIM:616300
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Chronic otitis media	OMIM:619466
X-Linked Ehlers-Danlos Syndrome	Joint hypermobility, Inguinal hernia, Hyperextensible skin, Umbilical hernia	ORPHA:75497
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Slender long bone, Decreased skull ossification, Delayed closure of the an...	OMIM:244460
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Joint subluxation, Kyphosis, Hyperextensibility of the finger joints, Hyperextensible skin, Joint...	OMIM:617821
Carnitine Deficiency, Systemic Primary	Respiratory distress, Reduced muscle carnitine level, Myopathy	OMIM:212140
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Thoracic hypoplasia, Metaphyseal spurs, Preaxial polydactyly, Acetabular s...	OMIM:613091
X-Linked Creatine Transporter Deficiency	Redundant skin, Hyperactivity, Self-mutilation, Joint hypermobility	ORPHA:52503
Fetal Akinesia Deformation Sequence 1	Thin ribs, Low-set ears, Congenital contracture, Thoracic hypoplasia, Decreased muscle mass, Camp...	OMIM:208150
Cardiofaciocutaneous Syndrome 4	Pectus excavatum, Scoliosis, Hyperextensible skin, Joint hypermobility	OMIM:615280
Premature Aging Syndrome, Penttinen Type	Thin ribs, Short distal phalanx of finger, Slender long bone, Cervical ribs, Delayed cranial sutu...	OMIM:601812
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
8Q22.1 Microdeletion Syndrome	Low-set ears, Limitation of joint mobility, Sandal gap, Finger syndactyly, Camptodactyly of finge...	ORPHA:178303
Trisomy 18	Deviation of finger, Camptodactyly of finger, Low-set, posteriorly rotated ears, Abnormal hip bon...	ORPHA:3380
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hearing impairment, Lower limb muscle weakness, Respiratory distress, Left ventricular hypertroph...	ORPHA:365
Dystonia 7, Torsion	Torticollis, Skeletal muscle hypertrophy	OMIM:602124
Recurrent Respiratory Papillomatosis	Tracheomalacia, Respiratory distress, Tachypnea, Dyspnea, Choking episodes, Dysphagia	ORPHA:60032
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Missing ribs, Abnormal rib morphology, Abnormally ossifi...	ORPHA:3301
Agel Amyloidosis	Dry skin, Facial palsy, Cutis laxa, Hearing impairment	ORPHA:85448
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Abnormal pinna morphology, Wide anterior fontanel, Neonatal death	OMIM:231680
Alfadhel Syndrome	Low-set ears, Aggressive behavior, Nasal flaring, Joint hypermobility	OMIM:620655
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Myopathy, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the phalanges of the h...	ORPHA:280365
Myotonic Dystrophy 1	Respiratory distress, Dysphagia, Facial diplegia, Obsessive-compulsive trait	OMIM:160900
Hallermann-Streiff Syndrome	Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Low-se...	OMIM:234100
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Macrotia	ORPHA:261304
Autosomal Recessive Cutis Laxa Type 1	Joint subluxation, Pathologic fracture, Redundant skin, Inguinal hernia, Lack of skin elasticity,...	ORPHA:90349
Ablepharon Macrostomia Syndrome	Toe syndactyly, Hearing impairment, Atresia of the external auditory canal, Camptodactyly of fing...	ORPHA:920
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Joint stiffness, Abnormal thorax morphology, Lack of skin elasticity, Pectus excavatum, Flexion c...	ORPHA:1979
Congenital Disorder Of Deglycosylation 1	Low-set ears, Small hand, Restlessness, Oral-pharyngeal dysphagia, Respiratory distress, Intrinsi...	OMIM:615273
Noonan Syndrome 10	Low-set ears, Pectus carinatum, Hyperextensible skin, Palmoplantar cutis laxa, Left ventricular h...	OMIM:616564
Classic Pantothenate Kinase-Associated Neurodegeneration	Attention deficit hyperactivity disorder, Abnormal posturing, Dysphagia, Increased susceptibility...	ORPHA:216866
Ulbright-Hodes Syndrome	Thin ribs, Low-set ears, Abnormal forearm bone morphology, Respiratory distress, Fibular aplasia,...	ORPHA:3404
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Respiratory distress, Death in infancy, Myopathy, Death in adolescence, ...	OMIM:615512
Cutis Laxa, Autosomal Recessive, Type Iic	Low-set ears, Overlapping toe, Knee flexion contracture, Joint hypermobility, Kyphoscoliosis, Cut...	OMIM:617402
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Respiratory distress, Elbow fl...	ORPHA:3206
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy, Inguinal hernia	OMIM:619272
Cidec-Related Familial Partial Lipodystrophy	Calf muscle hypertrophy, Skeletal muscle hypertrophy	ORPHA:435651
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Low-set ears, Respiratory distress, Contracture of the dista...	ORPHA:83617
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Low-set ears, Narrow chest, Cone-shaped epiphysis, Respiratory distress, Horizontal ribs, Short r...	OMIM:617088
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Broad ribs, Long hallux, Broad...	OMIM:600002
Werner Syndrome	Small hand, Chondrocalcinosis, Skeletal muscle atrophy, Skin ulcer, Joint stiffness, Abnormal tho...	ORPHA:902
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Hyperextensible skin, Cutis laxa, Osteoporosis, Recurrent fractures	OMIM:222700
Lipe-Related Familial Partial Lipodystrophy	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:435660
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Low-set ears, Pectus carinatum, Ulnar deviation of finger, Clinodactyly, Sandal gap, Umbilical he...	OMIM:618164
Esophageal Atresia	Abnormal vertebral morphology, Clinodactyly, Hearing impairment, Respiratory distress, Pallor, Or...	ORPHA:1199
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Low-set ears, Joint dislocation, Hearing impairment, Umbilical hernia, Delayed cranial suture clo...	OMIM:601776
Geleophysic Dysplasia 1	Platyspondyly, Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpal...	OMIM:231050
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Iliac crest serr...	ORPHA:93317
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Respiratory distress, Myopathy, Abnormal muscle glycogen content, Flexio...	ORPHA:367
Brittle Cornea Syndrome	Abnormal epiphysis morphology, Conductive hearing impairment, Increased susceptibility to fractur...	ORPHA:90354
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Lack of skin elasticity, Sensorineural hearing impairment, Joint contracture, Osteoporosis, Scoli...	OMIM:615381
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenita...	ORPHA:63260
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Motor stereotypy, Agitation	ORPHA:927
Cerebrocostomandibular Syndrome	Posterior rib gap, Congenital hip dislocation, Low-set ears, Conductive hearing impairment, Thora...	OMIM:117650
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Anorexia	ORPHA:79312
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Flexion contracture	OMIM:614833
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Hyperextensible skin, Joint hypermobility, Dyspnea, Pectus excavatum, Scoliosis	ORPHA:555877
Avian Influenza	Respiratory distress, Rhabdomyolysis, Tachypnea, Dyspnea, Miscarriage	ORPHA:454836
Neu-Laxova Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Osteopenia, Skeletal m...	ORPHA:2671
Laryngomalacia	Respiratory distress	OMIM:150280
Sporadic Infantile Bilateral Striatal Necrosis	Dysphagia, Abnormal posturing, Titubation, Hypomimic face	ORPHA:225147
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Slender finger	OMIM:250940
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Small hand, Head-banging, Clinodactyly, Respiratory distress, Overlappi...	ORPHA:177907
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Otosclerosis, Limitation of joint mobility, Conductive hearing imp...	ORPHA:217085
Nipah Virus Disease	Respiratory distress, Anorexia	ORPHA:99825
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Congenital diaphragmatic hernia, Sensorineural hea...	ORPHA:818
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Recurrent otitis media, Synovitis, Absent earlobe, Widely patent fontanelles and su...	ORPHA:3455
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Umbilical hernia, Recurrent otitis media, Broad ribs, Genu valgum, Limited elbow extension, Broad...	OMIM:301066
Pfeiffer Syndrome Type 2	Deviation of the thumb, Low-set ears, Small hand, Toe syndactyly, Limitation of joint mobility, F...	ORPHA:93259
Restrictive Dermopathy 1	Low-set ears, Rocker bottom foot, Overtubulated long bones, Increased anterioposterior diameter o...	OMIM:275210
Menkes Disease	Narrow chest, Chondrocalcinosis, Umbilical hernia, Osteomyelitis, Dry skin, Inguinal hernia, Hype...	ORPHA:565
Pagod Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Encephalocele, Death in infancy, S...	ORPHA:991
Cerebrocostomandibular Syndrome	Posterior rib gap, Hydranencephaly, Conductive hearing impairment, Tracheomalacia, Atresia of the...	ORPHA:1393
Fibromuscular Dysplasia, Multifocal	Dermal translucency, Joint subluxation, Soft, doughy skin, Striae distensae, Hyperextensible skin...	OMIM:619329
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respiratory distress, Ap...	ORPHA:17
Japanese Encephalitis	Genu recurvatum, Skeletal muscle atrophy, Abnormal pattern of respiration, Respiratory distress, ...	ORPHA:79139
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Otosclerosis, Limitation of joint mobility, Conductive hearing imp...	ORPHA:217093
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Genu valgum, Patellar dislocation, Motor stereotypy, Chronic otitis media, Hip disl...	ORPHA:534
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Death in infancy	OMIM:614299
Mitochondrial Complex I Deficiency, Nuclear Type 35	Redundant neck skin, Neonatal death	OMIM:619003
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Low-set ears, Cutis laxa	OMIM:270420
Cutis Laxa, Autosomal Dominant 1	Redundant skin, Inguinal hernia, Hyperextensible skin, Cutis laxa, Dyspnea	OMIM:123700
Mandibulofacial Dysostosis, Guion-Almeida Type	Low-set ears, Slender finger, Conductive hearing impairment, Atresia of the external auditory can...	OMIM:610536
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Low-set ears, Respiratory distress, Apnea, Hypoventilation, Polydactyly, Prominent metopic ridge	ORPHA:314655
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Popliteal pterygium, Finger syndactyly, Joint stiffness, Split hand, Abnormal rib...	ORPHA:1300
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Aplasia/Hypoplasia of the earlobes, Umbilical hernia, Respiratory distress, Craniosynostosis, Thi...	ORPHA:1555
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Short distal phalanx of finger, Increased density of long bones, Short 1st metacarp...	OMIM:269150
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Long ear, Aggressive behavior, Osteoarthritis, Skeletal muscle hypertrophy	OMIM:619714
Noonan Syndrome 2	Low-set ears, Pectus carinatum, Prominent fingertip pads, Abnormal sternum morphology, Overfolded...	OMIM:605275
Sandifer Syndrome	Hiatus hernia, Abnormal posturing, Decreased cervical spine mobility, Torticollis	ORPHA:71272
Pseudoxanthoma Elasticum	Striae distensae, Abnormal thorax morphology, Hyperextensible skin, Excessive wrinkled skin, Join...	ORPHA:758
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, Narrow chest, Inguinal hernia, Redundant neck skin, Death in infancy, Short neck, P...	OMIM:235255
Beare-Stevenson Cutis Gyrata Syndrome	Atresia of the external auditory canal, Respiratory distress, Overlapping toe, Limited elbow exte...	OMIM:123790
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Dysphagia, Abn...	ORPHA:138
Oromandibular Dystonia	Respiratory distress, Bruxism, Dysphagia, Torticollis	ORPHA:93958
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Tularemia	Respiratory distress, Otitis media	ORPHA:3392
Kleefstra Syndrome Due To A Point Mutation	Self-injurious behavior, Tracheomalacia, Hearing impairment, Umbilical hernia, Inguinal hernia, H...	ORPHA:261652
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Barber-Say Syndrome	Low-set ears, Dermal translucency, Microtia, first degree, Hearing impairment, Premature skin wri...	OMIM:209885
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Death in childhood, Sensorineural hearing impairment, Weakness of facial mu...	OMIM:220110
Bacterial Toxic-Shock Syndrome	Respiratory distress, Osteomyelitis, Ecchymosis, Myositis, Tachypnea, Arthritis, Scaling skin, Se...	ORPHA:36234
Barber-Say Syndrome	Atresia of the external auditory canal, Hearing impairment, Redundant skin, Hyperextensible skin,...	ORPHA:1231
Immunodeficiency 47	Sensorineural hearing impairment, Cutis laxa, Death in infancy, Joint hypermobility	OMIM:300972
Pfeiffer Syndrome Type 3	Low-set ears, Small hand, Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Broad ...	ORPHA:93260
Agnathia-Otocephaly Complex	Low-set ears, Conductive hearing impairment, Tracheomalacia, Respiratory distress, Synotia	OMIM:202650
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Low-set ears, Atresia of the external auditory ...	ORPHA:79500
Combined Oxidative Phosphorylation Deficiency 5	Low-set ears, Death in infancy, Posteriorly rotated ears, Redundant neck skin	OMIM:611719
Isolated Atp Synthase Deficiency	Respiratory distress, Sensorineural hearing impairment	ORPHA:254913
Congenital Tracheomalacia	Intercostal retractions, Tracheomalacia, Apnea, Cutis laxa, Dyspnea, Tracheobronchomalacia	ORPHA:95430
Tetanus	Respiratory distress, Tachypnea, Dysphagia, Stiff neck	ORPHA:3299
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring, Abnormal thorax morphology	ORPHA:70587
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Low-set ears, Abnormal sternum morphology, Inguinal hernia, Hyperextensible skin, Joint hypermobi...	OMIM:607721
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Hearing impairment, Shoulder girdle m...	ORPHA:206436
Axenfeld-Rieger Syndrome	Redundant skin, Hearing impairment	ORPHA:782
Coccidioidomycosis	Abnormality of the vertebral column, Hearing impairment, Respiratory distress, Broad ribs, Osteom...	ORPHA:228123
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Acute Lung Injury	Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea	ORPHA:178320
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Pectus carinatum, Narrow chest, Polysyndactyly of hallux, Postaxial polysyndactyly...	OMIM:263520
Alternating Hemiplegia Of Childhood	Oral-pharyngeal dysphagia, Respiratory distress, Apnea, Pallor, Aggressive behavior, Anorexia, Fa...	ORPHA:2131
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Increased variability in muscle fiber diameter	OMIM:615595
Biotinidase Deficiency	Myelopathy, Hearing impairment, Respiratory distress, Apnea, Limb muscle weakness, Sensorineural ...	ORPHA:79241
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Respiratory d...	OMIM:164310
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Joint stiffness, Lumbar hyperlord...	OMIM:277600
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Capitate-hamate fusion, Hypoplastic i...	OMIM:225500
Loeys-Dietz Syndrome 1	Low-set ears, Pectus carinatum, Hypoplasia of the musculature, Dermal translucency, Abnormal ster...	OMIM:609192
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Joint hypermobility	ORPHA:456328
Fryns Syndrome	Thin ribs, Short distal phalanx of finger, Joint contracture of the hand, Low-set ears, Abnormal ...	OMIM:229850
Auriculocondylar Syndrome	Abnormality of the crus of the helix, Hearing impairment, Question mark ear, Aplasia/Hypoplasia o...	ORPHA:137888
Ablepharon-Macrostomia Syndrome	Low-set ears, Toe syndactyly, Microtia, third degree, Hearing impairment, Microtia, first degree,...	OMIM:200110
Chromosome 6Q24-Q25 Deletion Syndrome	Low-set ears, Small hand, Cupped ear, Sandal gap, Prominent fingertip pads, Respiratory distress	OMIM:612863
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Pallor, Intermittent hyperventilation, Apneic episodes ...	ORPHA:348
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Death in infancy, Decreased skull ossification, ...	OMIM:602361
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Anorexia	ORPHA:79242
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Aggressive behavior, Tachypnea, Anorexia	OMIM:237310
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea, Anorexia	ORPHA:1302
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema	ORPHA:100057
Pseudoxanthoma Elasticum	Cutis laxa	OMIM:264800
Amyloidosis, Finnish Type	Cutis laxa	OMIM:105120
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Hearing impairment, Apnea, Reduced bone mineral dens...	ORPHA:667
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Limitation of joint mobility, Hearing impairment, Aplasia/Hypopla...	ORPHA:90153
Idiopathic Hypereosinophilic Syndrome	Ankle swelling, Skeletal muscle atrophy, Swelling of proximal interphalangeal joints, Respiratory...	ORPHA:3260
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea	ORPHA:36238
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea	OMIM:263000
Hypoglossia With Situs Inversus	Respiratory distress, Low-set ears	OMIM:612776
Hereditary Acrokeratotic Poikiloderma	Erythema, Finger syndactyly, Skin ulcer, Camptodactyly of finger, Hearing impairment, Abnormal hi...	ORPHA:2907
Congenital Pulmonary Lymphangiectasia	Respiratory distress	ORPHA:2414
Thyroid Lymphoma	Respiratory distress, Dyspnea, Dysphagia	ORPHA:97285
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys...	OMIM:610921
Costello Syndrome	Low-set ears, Pectus carinatum, Tracheomalacia, Barrel-shaped chest, Limited elbow movement, Redu...	OMIM:218040
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Facial hypotonia, Abnormal pinna morphology	ORPHA:438216
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Dyspnea	ORPHA:2707
Restrictive Dermopathy	Thin ribs, Osteopenia, Low-set ears, Camptodactyly of finger, Small placenta, Increased anteriopo...	ORPHA:1662
Choanal Atresia	Tracheomalacia, Respiratory distress, Polydactyly, Craniosynostosis, Choking episodes	ORPHA:137914
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea, Exercise-induced rhabdomyolysis	ORPHA:26793
Vici Syndrome	Low-set ears, Abnormal posturing, Myopathy, Sensorineural hearing impairment, Left ventricular hy...	OMIM:242840
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea	ORPHA:140896
Pseudo-Torch Syndrome 2	Thin ribs, Petechiae	OMIM:617397
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Low-set ears, Narrow chest, Inguinal hernia, Redundant neck skin, Short neck, Postaxial hand poly...	ORPHA:1655
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Congenital hip dislocation, Dermal translucency, Joint disloc...	ORPHA:286
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Joint dislocation, Hyperextensible skin, Joint hypermobility, Dermal translucency, Recurrent frac...	OMIM:619120
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low-set ears, Hearing impairment, Recurrent otitis media, Excessive wrinkled skin, Short neck, Pr...	OMIM:619950
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Abnormal sternum morphology,...	OMIM:192350
Familial Nasal Acilia	Respiratory distress, Dyspnea	ORPHA:922
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Listeriosis	Hearing impairment, Respiratory distress, Osteomyelitis, Stiff neck, Rhabdomyolysis, Septic arthr...	ORPHA:533
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Hearing impairment, Broad ribs, Sclerosis of skull base, Incre...	OMIM:619727
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Dyspnea	ORPHA:411703
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Flexion contracture	OMIM:616271
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Redundant neck skin	OMIM:617967
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Striae distensae, Petechiae, Hyperextensible skin, Joint hypermobility	OMIM:225310
Mend Syndrome	Low-set ears, Broad hallux, Overlapping toe, Overlapping fingers, Redundant neck skin, Polydactyl...	OMIM:300960
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea, Myopathy	OMIM:115197
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Narrow internal auditory canal, Low-set, posteriorly rotated ears, Synotia	ORPHA:990
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Hearing impairment, Otitis media	OMIM:606763
Acquired Methemoglobinemia	Respiratory distress, Dyspnea	ORPHA:464453
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea	ORPHA:264675
Fraser Syndrome	Toe syndactyly, Conductive hearing impairment, Finger syndactyly, Atresia of the external auditor...	ORPHA:2052
Chronic Pneumonitis Of Infancy	Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions	ORPHA:91359
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Tachypnea, Cholesteatoma	OMIM:610978
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Low-set ears, Clinodactyly, Dry skin, Short neck, Absent earlobe, Dysphagia, Genu varu...	OMIM:264090
Charge Syndrome	Low-set ears, Sensorineural hearing impairment, Radial head subluxation, Absent radius, Hand mono...	OMIM:214800
Mercury Poisoning	Respiratory distress, Dyspnea, Anorexia	ORPHA:330021
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Cervical ribs, Congenital diaphragmatic hernia, Umbilical hernia	ORPHA:2255
Antisynthetase Syndrome	Joint dislocation, Lack of skin elasticity, Myositis, Arthritis, Dysphagia	ORPHA:81
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Limb hypertonia, Short tibia, Short femur	OMIM:620306
Classical Ehlers-Danlos Syndrome	Osteopenia, Umbilical hernia, Soft, doughy skin, Striae distensae, Joint swelling, Hyperextensibl...	ORPHA:287
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Low-set ears, Small hand, Limitation of joint mobility, Hearing impairment, Overlapping toe, Pate...	ORPHA:480880
Hypermobile Ehlers-Danlos Syndrome	Limitation of joint mobility, Elbow dislocation, Joint dislocation, Umbilical hernia, Osteolysis,...	ORPHA:285
Generalized Arterial Calcification Of Infancy	Calcification of the auricular cartilage, Conductive hearing impairment, Hearing impairment, Stap...	ORPHA:51608
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Skeletal muscle atrophy, Painless fractures due to injury, Respiratory distress, Increased suscep...	OMIM:256810
Yunis-Varon Syndrome	Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Decreased skull os...	ORPHA:3472
Neurooculocardiogenitourinary Syndrome	Low-set ears, Redundant neck skin, Sensorineural hearing impairment	OMIM:618652
Kindler Epidermolysis Bullosa	Erythema, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short 4th metacarpal,...	ORPHA:2908
Brain-Lung-Thyroid Syndrome	Respiratory distress, Abnormal eating behavior, Sensorineural hearing impairment, Abnormal drinki...	ORPHA:209905
Multiple Benign Circumferential Skin Creases On Limbs	Umbilical hernia, Low-set, posteriorly rotated ears, Inguinal hernia, Increased number of skin fo...	ORPHA:2505
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Osteopenia, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Dy...	OMIM:619127
Heterotaxy, Visceral, 1, X-Linked	Low-set ears, Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Respiratory dis...	OMIM:306955
Yunis-Varon Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Anterior concavity of thoracic ...	OMIM:216340
Lujo Hemorrhagic Fever	Respiratory distress, Stiff neck, Ecchymosis, Purpura, Dysphagia	ORPHA:319213
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Ragged-red muscle fibers, Episodic respiratory distress, Sensorineural hearing impairment,...	ORPHA:255210
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hearing impairment, Respiratory distress, Left ventricular hypertrophy, Facial hypotonia, Macrogl...	ORPHA:308552
B4Galt1-Cdg	Low-set ears, Redundant neck skin	ORPHA:79332
Slc35A1-Cdg	Respiratory distress	ORPHA:238459
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Self-injurious behavior, Prominent antihelix, Conductive hearing impairment, Sensorineural hearin...	ORPHA:466943
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Hearing impairment, Abnormal earlobe morphology, Respiratory distress, Congenital diaph...	ORPHA:2556
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Low-set ears, Prominent antihelix, Recurrent otitis media, Redundant neck skin, Sensorineural hea...	OMIM:604314
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Overfolded helix, Hyperextensible skin, Down-sloping shoulders, Joint hypermob...	ORPHA:1974
Meconium Aspiration Syndrome	Respiratory distress	ORPHA:70588
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Lipodystrophy, Familial Partial, Type 2	Increased intramuscular fat, Skeletal muscle hypertrophy	OMIM:151660
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Atypical Werner Syndrome	Chondrocalcinosis, Skeletal muscle atrophy, Limitation of joint mobility, Finger clinodactyly, Sc...	ORPHA:79474
Alagille Syndrome 1	Low-set ears, Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, H...	OMIM:118450
Neuroblastoma	Respiratory distress, Anemic pallor, Pathologic fracture	ORPHA:635
Cryptococcosis	Respiratory distress, Osteomyelitis, Limb muscle weakness, Dyspnea, Osteolysis	ORPHA:1546
Gitelman Syndrome	Chondrocalcinosis, Polydipsia, Respiratory distress, Gout, Rhabdomyolysis, Tinnitus, Salt craving	ORPHA:358
Cocaine Intoxication	Respiratory distress, Rhabdomyolysis, Tachypnea, Hyperventilation, Agitation	ORPHA:90068
45,X/46,Xy Mixed Gonadal Dysgenesis	Hearing impairment, Recurrent otitis media, Low-set, posteriorly rotated ears, Short 4th metacarp...	ORPHA:1772
Down Syndrome	Shallow acetabular fossae, Atlantoaxial instability, Clinodactyly, Sandal gap, Conductive hearing...	OMIM:190685
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Death in childhood, Death in infancy, Multiple rib fractures...	OMIM:612301
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Osteomyelitis, Myositis	ORPHA:37042
Papillorenal Syndrome	Hyperextensible skin, Sensorineural hearing impairment, Joint hypermobility, Scoliosis, Soft skin	OMIM:120330
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Abnormal vertebral morphology	ORPHA:210122
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Toxic Epidermal Necrolysis	Erythema, Polydipsia, Skin ulcer, Respiratory distress, Dysphagia	ORPHA:537
Parkes Weber Syndrome	Myelopathy, Skin ulcer, Abnormal femoral metaphysis morphology, Lower limb muscle weakness, Muscl...	ORPHA:90307
Congenital Enterovirus Infection	Respiratory distress	ORPHA:292
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Macroglossia, Apnea, Myopathy	OMIM:261740
Rodrigues Blindness	Protruding ear, Nasal flaring	OMIM:268320
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Q Fever	Respiratory distress, Osteomyelitis, Purpura, Anorexia	ORPHA:781
Gabriele-De Vries Syndrome	Low-set ears, Sandal gap, Oral-pharyngeal dysphagia, Distal lower limb amyotrophy, Hyperextensibl...	ORPHA:506358
Townes-Brocks Syndrome	Toe clinodactyly, Abnormal vertebral morphology, Ulnar deviation of finger, Broad thumb, Toe synd...	ORPHA:857
Sepsis In Premature Infants	Pallor, Petechiae, Dyspnea, Nasal flaring, Purpura	ORPHA:90051
Scimitar Syndrome	Respiratory distress, Abnormality of the vertebral column, Abnormal hemidiaphragm morphology, Hyp...	ORPHA:185
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Thoracolumbar kyphosis, Abnormal temper tantrums, Skin ulcer, Hyperextensible skin, Ecchymosis, S...	ORPHA:2072
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Soft, doughy skin, Hyperextensible skin, Joint hypermobility, Sensorineural hearing impairment, D...	ORPHA:541423
Kosaki Overgrowth Syndrome	Scoliosis, Thoracolumbar scoliosis, Hyperextensible skin	OMIM:616592
Ramos-Arroyo Syndrome	Respiratory distress, Bilateral sensorineural hearing impairment, Self-mutilation	ORPHA:1051
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Petechiae, Ecchymosis, Dyspnea, Back pain, Agitation	ORPHA:340
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Tachypnea, Dyspnea, Clubbing	OMIM:610913
Ethylene Glycol Poisoning	Abnormal pattern of respiration, Episodic respiratory distress, Addictive alcohol use, Tachypnea,...	ORPHA:31826
Unilateral Polymicrogyria	Apnea, Abnormal posturing, Infantile sensorineural hearing impairment, Pseudobulbar paralysis	ORPHA:268943
Mowat-Wilson Syndrome	Pectus carinatum, Cupped ear, Recurrent otitis media, Large earlobe, Uplifted earlobe, Pectus exc...	OMIM:235730
Adult-Onset Cervical Dystonia, Dyt23 Type	Hyperventilation, Torticollis, Neck muscle hypertrophy	ORPHA:420492
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Dysphagia	ORPHA:100050
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Prominent ear helix, Limited hip movement, Hip dislocation, High-fr...	ORPHA:740
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Dry skin, Periorbital wrinkles, Soft skin	OMIM:305100
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Low-set ears	ORPHA:79282
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy	OMIM:618426
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Erythema, Narrow chest, Macrotia	OMIM:614748
Okamoto Syndrome	Low-set ears, Abnormal helix morphology, Redundant neck skin, Joint hypermobility, Polydactyly, O...	ORPHA:2729
Tuberous Sclerosis Complex	Self-injurious behavior, Respiratory distress, Aggressive behavior, Attention deficit hyperactivi...	ORPHA:805
Complete Atrioventricular Septal Defect	Tachypnea, Intercostal retractions, Right ventricular hypertrophy	ORPHA:1329
Plague	Skin ulcer, Hearing impairment, Respiratory distress, Dry skin, Arthritis, Anorexia, Abnormality ...	ORPHA:707
Osteopetrosis With Renal Tubular Acidosis	Conductive hearing impairment, Osteopetrosis, Prominent floating ribs, Pectus excavatum, Recurren...	ORPHA:2785
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Osteoporosis, Dyspnea, Abnormal fingertip morphology	ORPHA:79404
Colchicine Poisoning	Respiratory distress	ORPHA:31824
Kasabach-Merritt Phenomenon	Respiratory distress, Purpura, Hypopnea, Petechiae	ORPHA:2330
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Hypermobility of interphalangeal joints, Dermal translucency, Absent earlobe...	OMIM:130050
Nocardiosis	Respiratory distress, Osteomyelitis, Dyspnea, Anorexia	ORPHA:31204
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Redundant neck skin, Cubitus valgus, Short neck, Brachydactyly, S...	OMIM:617157
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea, Left ventricular hypertrophy	ORPHA:2299
Isolated Arrhinia	Respiratory distress, Microtia	ORPHA:1134
Leptospirosis	Respiratory distress, Rhabdomyolysis, Anorexia	ORPHA:509
Leprechaunism	Low-set ears, Protruding ear, Skeletal muscle atrophy, Hyperextensible skin	ORPHA:508
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Cupped ear, Short thumb, Broad hallux, Preaxial polydactyly, Radi...	OMIM:149730
Congenital Total Pulmonary Venous Return Anomaly	Paroxysmal dyspnea, Respiratory distress, Increased anterioposterior diameter of thorax, Pallor, ...	ORPHA:99125
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Skin ulcer, Oral-pharyngeal dysphagia, Anorexia	ORPHA:95455
Congenital Tracheal Stenosis	Respiratory distress, Dyspnea, Abnormal earlobe morphology	ORPHA:141127
Pmm2-Cdg	Platyspondyly, Osteopenia, Respiratory distress, Multiple joint contractures, Joint hypermobility...	ORPHA:79318
Alström Syndrome	Severe sensorineural hearing impairment, Short toe, Progressive sensorineural hearing impairment,...	ORPHA:64
Eisenmenger Syndrome	Respiratory distress, Exertional dyspnea, Clubbing	ORPHA:97214

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 Tcf15

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 Tcf15.

No publications found that use IMPC mice or data for Tcf15.

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MGI Allele	Allele Type	Produced
Tcf15^{tm418706(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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