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Gene: Lfng MGI:1095413

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Synonyms:
lunatic fringe

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 Lfng mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Hypospadias, Camptodacty... ORPHA:2311

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Poland Syndrome
Unilateral absence of pectoralis major muscle, Unilateral hypoplasia of pectoralis major muscle, ... OMIM:173800
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Cervical Rib
Cervical ribs OMIM:117900
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... ORPHA:66637
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... ORPHA:3268
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... ORPHA:64755
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Short neck, Abnormal sacrum morphology, Abnormal rib morphology,... ORPHA:2345
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Abnormal rib morphology, Abno... ORPHA:2790
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Hypospadias, Camptodacty... ORPHA:2311
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Femoral-Facial Syndrome
Short femur, Cryptorchidism, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Cox... ORPHA:1988
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Heart Defects-Limb Shortening Syndrome
Death in infancy, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narro... ORPHA:1354
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis ORPHA:93304
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... ORPHA:1801
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Kyphosis, Joint hyperflexibility, Hypogonadism, Cubitus valgus, Abnorm... ORPHA:1875
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... ORPHA:40
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Male hypogonadism, Abnormality of the cervical spine, Hypergonadotropic h... OMIM:307500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect OMIM:618845
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Vertebral wedging, Genu valgum, Bell-shaped thorax, Pectus carinatum, Skeletal mu... OMIM:255710
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... OMIM:259440
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Genu valgum, Pectus carinatum, Irregular vertebral... OMIM:609223
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 v... OMIM:118100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Spina bifida, Kyphos... OMIM:109400
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... OMIM:178110
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Halberd-shaped pelvis, Narr... OMIM:156530
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:1836
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Optic atrophy, Coxa vara, Platys... OMIM:602271
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Abnormal thorax morphology, Azoospermia, Infertility, Scoliosis, Thorac... ORPHA:1445
Thoracic Dysostosis, Isolated
Pectus excavatum, Recurrent respiratory infections, Short ribs, Bell-shaped thorax OMIM:187750
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin lev... ORPHA:243
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, Bicornuate uteru... ORPHA:2578
Satoyoshi Syndrome
Abnormality of the knee, Hyperlordosis, Nephrogenic diabetes insipidus, Abnormal joint morphology... ORPHA:3130
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... ORPHA:1149
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Decreased fertility, Hemivertebrae, Abnormal form of the ver... ORPHA:2234
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... ORPHA:2522
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But... ORPHA:313892
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Aicardi Syndrome
Block vertebrae, Missing ribs, Optic disc coloboma, Rib fusion, Optic atrophy, Small hand, Hip dy... ORPHA:50
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Craniodiaphyseal Dysplasia
Optic atrophy, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Delayed skeletal... OMIM:619665
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... OMIM:113000
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Aicardi Syndrome
Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Optic disc coloboma, Ri... OMIM:304050
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Short neck, Cryptorchidism, Kyphosis, Prenatal death, Campt... OMIM:618393
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... OMIM:607155
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo... OMIM:213980
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology, Abnormal ca... ORPHA:93351
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Spermatogenic Failure 17
Male infertility OMIM:617214
Pontine Tegmental Cap Dysplasia
Facial palsy, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis OMIM:614688
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Multiple pterygia, Pectus excavatum,... ORPHA:2990
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ... OMIM:618395
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Delayed skelet... ORPHA:2332
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal ... ORPHA:1486
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... ORPHA:397685
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... OMIM:300604
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... ORPHA:432
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Kyphoscoliosis, Short neck, Broad femoral neck, Cryptorchidism, Squared iliac... OMIM:611209
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Short long bone... OMIM:615633
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Gorlin Syndrome
Vertebral fusion, Hypogonadotropic hypogonadism, Cryptorchidism, Hemivertebrae, Vertebral wedging... ORPHA:377
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Secondar... OMIM:615300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Cryptorchidism, Joint hyp... ORPHA:915
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary, Osteosclerosis of the base of the skull... OMIM:609993
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... ORPHA:485
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of th... ORPHA:2916
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa vara, Femoral b... OMIM:608940
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis OMIM:618155
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared metaphysis, Co... OMIM:602111
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... OMIM:619751
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... ORPHA:137686
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, Pectus carinatum, Abnormal bone ossification, Abnormal ... ORPHA:93315
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Mis... OMIM:206900
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vert... ORPHA:3109
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly, Lumbar scolio... OMIM:612847
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... ORPHA:628
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... ORPHA:93267
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Osteoarthritis, Delayed epiphyseal ossification, Metaphyseal wid... OMIM:177170
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology ORPHA:261197
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Abnormality of the elbow, Abnormal rib morphology, Abnormal finger m... ORPHA:2319
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Accelerated skeletal maturation, Insulin-... ORPHA:66628
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Thickened ribs, Optic atrophy, Diaphyseal sclerosis, Death in adolescence, Facial di... OMIM:122860
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Cryptorchidism, Rib fusion, Vertebral arch anomaly, Cut... OMIM:148050
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Caudal Regression Syndrome
Decreased muscle mass, Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Hypoplast... ORPHA:3027
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, St... ORPHA:2232
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Accelerated skeletal maturation, Insulin-... ORPHA:179494
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Increased density of l... OMIM:305620
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Grant Syndrome
Joint dislocation, Abnormal rib morphology, Decreased skull ossification, Joint hyperflexibility,... ORPHA:2097
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Xp22.3 Microdeletion Syndrome
Sacral dimple, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycyst... ORPHA:1643
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Short r... OMIM:151210
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Flexion contracture, I... OMIM:602771
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Mosaic Trisomy 14
Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal rib morphology, Narrow chest ORPHA:1703
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Müllerian Aplasia And Hyperandrogenism
Short neck, Primary amenorrhea, Hypoplasia of the uterus, Shield chest, Increased serum testoster... ORPHA:247768
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... ORPHA:1507
White Forelock With Malformations
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S... ORPHA:2475
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Myopathy, Cervical C2/C3 vertebral fusi... OMIM:616549
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Abnormality of... OMIM:601076
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis... OMIM:272460
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis... OMIM:146510
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... OMIM:187600
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... OMIM:619698
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Pectus carinatum, Genu valgum, Abnormal rib... OMIM:252605
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... OMIM:203500
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele ORPHA:280195
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Cryptorchidism, Kyphosis, Rib fusion, Optic atrophy, S... ORPHA:1606
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morphology, ... ORPHA:1488
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Cryptorchidism, Kyphosis, Po... ORPHA:3082
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, Meningocele, Sclerosis ... OMIM:130720
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo... OMIM:617952
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Lateral clavicle hook, Elbow dislocation, Anterior vertebral fusion, Shoulder dis... OMIM:171480
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... OMIM:612852
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Hyperlordosis, Kyphosis, Delayed skeletal maturation, Short thorax... ORPHA:582
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Umbilical hernia ORPHA:93298
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... OMIM:300863
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Larsen Syndrome
Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Cryptorchidism, Pectus exca... OMIM:150250
Wildervanck Syndrome
Fused cervical vertebrae, Facial palsy, Short neck ORPHA:3456
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Cryptorchidism, Osteoarthritis, Generalized joint lax... OMIM:618000
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho... ORPHA:2876
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Bilateral cryptorchidism, Rib fusion, Clinodactyly of... ORPHA:544488
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla... OMIM:619131
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosi... OMIM:300232
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Delayed s... ORPHA:3068
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion, Posterior r... ORPHA:263508
Bardet-Biedl Syndrome
Hypoplasia of penis, Short neck, Cryptorchidism, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Aromatase Deficiency
Macroorchidism, postpubertal, Osteopenia, Male infertility, Hypergonadotropic hypogonadism, Femal... ORPHA:91
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Robinow Syndrome
Fused thoracic vertebrae, Decreased serum testosterone concentration, Small scrotum, External gen... ORPHA:97360
Verheij Syndrome
Joint laxity, Vertebral fusion, Branchial cyst, Short neck, Hemivertebrae, Hip dislocation, Scoli... OMIM:615583
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T... OMIM:166210
Caudal Duplication
Abnormal penis morphology, Spina bifida, Cryptorchidism, Abnormal sacrum morphology, Myelomeningo... ORPHA:1756
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... ORPHA:2759
Koolen-De Vries Syndrome
Vertebral fusion, Hypospadias, Pectus excavatum, Cryptorchidism, Kyphosis, Hip dislocation, Joint... ORPHA:96169
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... ORPHA:280
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Joint hypermobility, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagin... ORPHA:456328
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Decreased calvarial ossific... OMIM:616229
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu... ORPHA:1120
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ... ORPHA:2970
Melnick-Needles Syndrome
Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Abnormal rib ... ORPHA:2484
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... ORPHA:90650
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan... ORPHA:163966
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Leopard Syndrome 1
Scapular winging, Hypospadias, Limited elbow movement, Short neck, Kyphoscoliosis, Cryptorchidism... OMIM:151100
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate... ORPHA:3320
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... ORPHA:171430
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ... ORPHA:3035
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Recurrent fractures, Cryptorchidism, Abnormal rib morphology, Joint hyperfle... ORPHA:2772
Atelosteogenesis, Type I
11 pairs of ribs, Encephalocele, Long clavicles, Short neck, Thoracic platyspondyly, Cryptorchidi... OMIM:108720
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Optic disc pallor, Camptodactyly of finger, Delayed closure of the anterior fon... OMIM:607872
Achondrogenesis Type 1A
Multiple rib fractures, Short neck, Short thorax, Short foot, Narrow chest, Short palm, Umbilical... ORPHA:93299
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Pulmonary edema ORPHA:70587
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Achondrogenesis, Type Ia
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sa... OMIM:200600
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoar... ORPHA:93352
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... ORPHA:750
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Dysosteosclerosis
Sclerotic scapulae, Delayed closure of the anterior fontanelle, Increased intervertebral space, O... OMIM:224300
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pectus carinatum, Cervical ribs OMIM:609654
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo... ORPHA:2050
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Hypogonadotropic hypogonadism, Cryptorchidism, Flat acetabular roof, Fused cervica... OMIM:617159
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Bell-shaped thor... OMIM:602557
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Pectus carinatu... OMIM:617796
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Hypophosphatasia
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap... ORPHA:436
Otopalatodigital Syndrome Type 2
Encephalocele, Increased bone mineral density, Hypospadias, Tarsal synostosis, Camptodactyly of f... ORPHA:90652
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... OMIM:218600
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Wrist swelling, Abnormal shoulder morphology, Irregular vertebr... ORPHA:1159
Ollier Disease
Joint stiffness, Precocious puberty, Bone pain, Osteolysis, Platyspondyly, Anemia ORPHA:296
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration ORPHA:70589
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture, Thin ribs OMIM:615368
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Ri... OMIM:157800
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum, Macroglossia, Broad ribs ORPHA:583
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Mucopolysaccharidosis, Type Ivb
Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tu... OMIM:253010
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Cryptorchidism, Hyperextensible hand ... OMIM:227330
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... ORPHA:958
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... ORPHA:3258
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Pectus excavatum, Cryptorchidism, Kypho... OMIM:610443
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Missing ribs, Abnormal rib ... ORPHA:1834
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Accessory spleen, Hypospadias, P... OMIM:194190
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... ORPHA:79345
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... OMIM:612921
Lethal Congenital Contracture Syndrome 1
Neonatal death, Abnormal thorax morphology, Widening of cervical spinal canal OMIM:253310
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... OMIM:619227
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... OMIM:616294
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Abnormal thorax morpho... ORPHA:1318
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness OMIM:252920
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ... OMIM:610915
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... OMIM:619636
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis OMIM:604571
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... OMIM:252930
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Greenberg Dysplasia
Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c... OMIM:215140
Renpenning Syndrome
Skeletal muscle atrophy, Joint stiffness, Pectus excavatum, Abnormal rib morphology, Sprengel ano... ORPHA:3242
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... ORPHA:169189
Zttk Syndrome
Craniosynostosis, Kyphosis, Optic atrophy, Rib fusion, Hemivertebrae, Small hand, Short foot, Cer... OMIM:617140
Sclerosteosis 1
Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Irregular menstruatio... OMIM:269500
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... ORPHA:90796
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... ORPHA:2911
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Generalized joint laxity, T... OMIM:613848
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... ORPHA:85167
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ... OMIM:617895
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Scoliosis, Female infertility OMIM:619518
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly ORPHA:2145
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... ORPHA:2167
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Coxa valga, Vertebral arch anomaly, Abnormal diaphysis morpholog... ORPHA:85184
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Fractured radius, Beaded ribs, Short neck, Multiple prenatal ... OMIM:616897
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphol... ORPHA:887
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, Coronal cleft vertebrae, Plat... OMIM:620076
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... OMIM:300219
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... ORPHA:1517
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal... ORPHA:1452
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Hemivertebrae, Micropenis, Aplasia/hy... ORPHA:672
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Idiopathic Bronchiectasis
Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious pneumonia, Recurrent low... ORPHA:60033
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Woodhouse-Sakati Syndrome
Osteopenia, Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian... ORPHA:3464
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Antley-Bixler Syndrome
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... ORPHA:83
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Decreased calvarial ossification, Craniosynostosis, Thin ribs OMIM:618265
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Aromatase Deficiency
Hypergonadotropic hypogonadism, Delayed skeletal maturation, Primary amenorrhea, Ovarian cyst, Fe... OMIM:613546
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Abnormally ossified vertebrae, Missing ribs, Cryptorchidism, Optic atrophy... ORPHA:3301
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Hypoplasia of penis, Congenital hip dislocation, Hypospadias, Camptodactyly of ... ORPHA:373
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short neck, Bilateral cryptorchidism, Missing ribs, Lumbar hemivertebrae, Clinodactyly of the 5th... OMIM:619859
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum... ORPHA:175
Pyknoachondrogenesis
Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ... ORPHA:3003
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... OMIM:142900
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, ... OMIM:230500
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... ORPHA:73230
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... OMIM:244460
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Anisospondyly, Cryptorchidism, Short long bone... OMIM:224410
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... OMIM:620369
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:2519
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Recurrent fractures, Enlargement of the costochondral junction, Delaye... OMIM:600081
Craniometadiaphyseal Dysplasia
Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scoliosis, Wormian ... OMIM:269300
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Small scrotum, Joint stiffness, Cryptorchidism, Abnormal rib morphology, Hypoplast... ORPHA:1300
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... OMIM:151200
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Trisomy 13
Cryptorchidism, Kyphosis, Postaxial hand polydactyly, Optic atrophy, Abnormal rib morphology, Abn... ORPHA:3378
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly OMIM:193500
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... ORPHA:2769
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effusion, Pulmo... OMIM:612387
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib morphology, Patel... ORPHA:96061
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Upper limb muscle weakness, Cervical C2/C3 vertebral fusion ORPHA:370010
Myhre Syndrome
Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Generalized muscle h... OMIM:139210
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger OMIM:184460
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... OMIM:313400
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Spatulate ribs, Short neck, Pectus... OMIM:253220
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... ORPHA:79127
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Bowing of the legs, Pectus carinatum, Knee flexion contracture, Abnormal calcificatio... OMIM:271665
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Multicentric femoral head ossification, Hypoplastic scapulae, Short neck, Hy... OMIM:607326
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst ORPHA:2357
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Lateral ... ORPHA:3144
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs OMIM:614833
Radio-Renal Syndrome
Short neck, Abnormality of the elbow, Abnormal rib morphology, Hypoplasia of the radius, Abnormal... ORPHA:3015
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... OMIM:271640
Alagille Syndrome
Hypoplasia of the ulna, Cryptorchidism, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:52
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Pectus excavatum, Cryptorchidism,... OMIM:263750
Ellis-Van Creveld Syndrome
Hypoplastic iliac wing, Cryptorchidism, Capitate-hamate fusion, Postaxial hand polydactyly, Pectu... OMIM:225500
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Abnormality ... ORPHA:93473
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Torticollis, Short neck, Increased variability in muscle fiber di... OMIM:617022
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Diastasis recti, Pectus excavatum, Flexion contracture, Macroglossia, Prominent ste... ORPHA:254528
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia ORPHA:254534
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... OMIM:183900
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flexion contracture, Hemivertebrae, Flat glenoid fossa, P... OMIM:224690
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Beaded ribs, Bowing of ... ORPHA:89936
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis,... OMIM:251230
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Spina bifida, Pancreatic cysts, Lateral clavicle hook, Leukocytosis, Patellar aplas... OMIM:274000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Sagittal craniosyno... ORPHA:500150
Apert Syndrome
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Delayed epip... OMIM:101200
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Kyphoscoliosis, Joint stiffness, Cryptorchidism, Uterus didelphys, Gon... OMIM:618820
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Hemivertebrae, Short neck ORPHA:1780
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split... OMIM:200980
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Bone pain, Thyroid carcinoma, Patchy reduction of bone mineral dens... ORPHA:249
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Pect... ORPHA:2463
Meconium Aspiration Syndrome
Atelectasis, Pneumothorax, Aspiration pneumonia ORPHA:70588
Xylt1-Cdg
Joint dislocation, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clav... ORPHA:370930
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Hypospadias, Spina bi... ORPHA:508498
Shashi-Pena Syndrome
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusi... OMIM:617190
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital fe... OMIM:208500
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Asplenia, Posterior rib fusion, Bicornuate uterus, Neonatal death, Annular pancreas,... OMIM:265380
Kagami-Ogata Syndrome
Long clavicles, Diastasis recti, Kyphoscoliosis, Flexion contracture, Thin ribs, Bell-shaped thorax OMIM:608149
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Death in infancy, Wide cranial sutures, Crumpled long bones, Protrusio ac... OMIM:610682
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedg... OMIM:253200
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee flexion contr... OMIM:600920
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Broad ribs, Myeloid leukemia, Micropenis, Streak ovary,... ORPHA:798
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha... ORPHA:1647
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Pectus carinatum, Wrist flexion contracture, Increased bone ... ORPHA:800
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Short neck, Fused cervical vertebrae, Neut... OMIM:609053
Cartilage-Hair Hypoplasia
Joint laxity, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoid process... OMIM:250250
Gracile Bone Dysplasia
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Brachydactyly OMIM:602361
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Prominent metopic ridge, Congenital muscular torticollis, Camptodactyly ... ORPHA:2215
Duane-Radial Ray Syndrome
Facial palsy, Spina bifida occulta, Fused cervical vertebrae, Shoulder dislocation, Small thenar ... OMIM:607323
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Reduced bone mineral density, Enlarged thorax, Hashimoto thyroiditis, Pre... ORPHA:99413
Turner Syndrome
Osteopenia, Short neck, Reduced bone mineral density, Enlarged thorax, Hashimoto thyroiditis, Pre... ORPHA:881
Mosaic Monosomy X
Osteopenia, Short neck, Reduced bone mineral density, Enlarged thorax, Hashimoto thyroiditis, Pre... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Reduced bone mineral density, Enlarged thorax, Hashimoto thyroiditis, Pre... ORPHA:99226
Arnold-Chiari Malformation Type I
Stiff neck, Abnormality of the musculature of the lower limbs, Fused cervical vertebrae, Scoliosi... ORPHA:268882
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Genu recurvatum, Craniosynostosis, Lateral clavicle hook, Pectus excava... OMIM:182212
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Ovarian neoplasm ORPHA:87
Occipital Horn Syndrome
Short humerus, Orthostatic hypotension, Persistent open anterior fontanelle, Pelvic bone exostose... OMIM:304150
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Postaxial polydactyly, Unicoronal synostosis, Cryptorchidism, Squared iliac bones,... OMIM:616300
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Spina bifida, Abnormality of the spleen, Meningocele... ORPHA:991
Hyperparathyroidism, Transient Neonatal
Osteopenia, Hyperparathyroidism, Wide cranial sutures, Recurrent fractures, Undulate ribs, Thin r... OMIM:618188
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... OMIM:610978
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Contracture of the... ORPHA:83617
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Spina bifida occult... ORPHA:488434
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid sternum ORPHA:63260
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... OMIM:614008
Frontometaphyseal Dysplasia 2
Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Cryptorchidism,... OMIM:617137
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis ORPHA:2902
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short neck, Bowing of the legs, Short toe, Short thorax, Anencephaly, Short... OMIM:269860
Duane Retraction Syndrome
Skeletal muscle atrophy, Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies,... ORPHA:233
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Anterior rib cupping, Ovoid vertebral bodies, Enlargement of the costochondr... OMIM:260400
Monosomy 9Q22.3
Rhabdomyosarcoma, Accelerated skeletal maturation, Pectus excavatum, Short neck, Kyphosis, Abnorm... ORPHA:77301
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Alg9-Cdg
Prominent metopic ridge, Short neck, Wide anterior fontanel, Bicornuate uterus, Hypoplasia of the... ORPHA:79328
Trisomy 1Q
Short thorax, Abnormal rib morphology, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic... OMIM:617925
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
3Q29 Microdeletion Syndrome
Tapered finger, Pectus excavatum, Pectus carinatum, Six lumbar vertebrae, Clinodactyly of the 5th... ORPHA:65286
Myhre Syndrome
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Joint stiffness, Precocious ... ORPHA:2588
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Delayed skeletal maturation, Horizontal ribs OMIM:614857
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... OMIM:114290
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Optic neuropathy, Increased intervertebral space, Optic atrophy, Broad isc... OMIM:619727
Chops Syndrome
Tracheomalacia, Cryptorchidism, Splenomegaly, Cervical C2/C3 vertebral fusion OMIM:616368
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Short neck, Limitation of joint mobility, Bell-shaped thorax, Co... ORPHA:254519
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Joint stiffness, Achilles tendon... OMIM:252940
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Hypospadias, Anterior pituitary hypoplasia... OMIM:151050
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Flexion contracture, Genu valgum, Hypoplasia of the ovary, Micropenis, Decreased te... OMIM:619321
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... ORPHA:666
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Small proximal ti... ORPHA:96334
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Death in infancy, Femur fracture, Optic atrophy, Death in childhood, Opti... OMIM:612301
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, E... ORPHA:2554
Premature Aging Syndrome, Penttinen Type
Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, Osteoporosis, T... OMIM:601812
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Thickened ribs, Facial hypotonia, Craniosynostosis, Joint stiffness, Pe... ORPHA:309282
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Dextrocardia
Congenital hip dislocation, Abnormal reproductive system morphology, Abnormality of the spleen, A... ORPHA:1666
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... OMIM:192350
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Short neck, Pectus excavatum, Cryptorchidism, Hip dislocation, Cervical C5/C6 vert... OMIM:613458
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ribs OMIM:277600
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... OMIM:209900
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Short neck, Cryptorchidism, Humeroradial synostosis, Abnormal ri... ORPHA:3404
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... OMIM:620233
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Stuve-Wiedemann Syndrome 1
Enlarged joints, Ovoid vertebral bodies, Short neck, Osteoporosis, Elbow flexion contracture, Kne... OMIM:601559
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Kyp... OMIM:225400
Farber Disease
Atelectasis, Abnormal sternum morphology, Recurrent upper respiratory tract infections, Nodular p... ORPHA:333
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Osteopathia Striata With Cranial Sclerosis
Facial palsy, Tracheomalacia, Delayed closure of the anterior fontanelle, Pectus excavatum, Crani... OMIM:300373
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Short neck, T... OMIM:208150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Cutis Laxa, Autosomal Recessive, Type Ia
Pectus excavatum, Recurrent respiratory infections, Emphysema OMIM:219100
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections ORPHA:2314
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... OMIM:617088
Trisomy 18
Camptodactyly of finger, Spina bifida, Cryptorchidism, Delayed skeletal maturation, Abnormal rib ... ORPHA:3380
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi... ORPHA:581
Elsahy-Waters Syndrome
Bifid scrotum, Hypospadias, Bilateral cryptorchidism, Pectus excavatum, Cervical C2/C3 vertebral ... OMIM:211380
Monosomy 9P
Congenital diaphragmatic hernia, Short neck, Limitation of joint mobility, Abnormal rib morpholog... ORPHA:261112
Hallermann-Streiff Syndrome
Wormian bones, Hyperlordosis, Pectus excavatum, Thin ribs, Abnormal rib cage morphology, Decrease... OMIM:234100
Simpson-Golabi-Behmel Syndrome, Type 1
Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Crypto... OMIM:312870
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Myelomeningocele, P... OMIM:306955
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hypospadias, Decreased response to growth hormone stimulation test, Hypothyroidism... ORPHA:444077
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Joint stiffness, Delayed skeletal maturation, Elbow flexion contracture, Sp... OMIM:608328
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Metopic sut... OMIM:269150
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Aganglionic megacolon, Proximal placement of thumb, Short neck, Cryptorchidism... ORPHA:818
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylothorax, Emphysema, Pulmonary ly... ORPHA:538
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Osteomalacia, Cryptorchidism, Abnormal rib morphology, Azoospermia, Joint hy... ORPHA:534
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal epiph... ORPHA:667
Craniofacial Microsomia 1
Block vertebrae, Hypoplasia of facial musculature, Hemivertebrae, Genu valgum, Cervical ribs, Sco... OMIM:164210
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Pectus excavatum, Atelectasis, Pectus carinatum, Pulmonary hypoplasia ORPHA:536467
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Pectus excavatum, Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis OMIM:618278
Cutis Laxa, Autosomal Recessive, Type Ic
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Emphysema, Peripheral pulmonary artery st... OMIM:613177
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Hemivertebrae, Abnormal rib morphol... ORPHA:138
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections, Intercostal muscle weakness ORPHA:258
Hereditary Acrokeratotic Poikiloderma
Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger ORPHA:2907
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Joint stiffness, Pectus excavatum, Flexion contracture, Osteolytic defects of the pha... OMIM:619127
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hyperlordosis, Hip dislocation, Genu valgum, Broad ribs, Limited elbow extension OMIM:301066
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Myocardial calcifi... ORPHA:51608
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Hypothyro... ORPHA:857
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Fryns Syndrome
Short neck, Thin ribs, Aplasia of the left hemidiaphragm, Camptodactyly, Broad ribs, Joint contra... OMIM:229850
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... ORPHA:217085
Cranioectodermal Dysplasia 2
Joint laxity, Craniosynostosis, Short neck, Pectus excavatum, Short ribs, Narrow chest, Metopic s... OMIM:613610
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Spina... ORPHA:217093
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia OMIM:306400
Kindler Epidermolysis Bullosa
Flexion contracture, Abnormal rib morphology, Camptodactyly of finger ORPHA:2908
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Chand Syndrome
Atelectasis ORPHA:1401
Noonan Syndrome 1
Male infertility, Pectus excavatum of inferior sternum, Kyphoscoliosis, Short neck, Cryptorchidis... OMIM:163950
Coccidioidomycosis
Osteomyelitis, Osteolysis, Arthritis, Abnormality of the vertebral column, Broad ribs ORPHA:228123
Zygomycosis
Acute infectious pneumonia, Atelectasis, Pleural effusion, Pneumothorax ORPHA:73263
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
22Q11.2 Deletion Syndrome
Atelectasis, Abnormal thorax morphology, Abnormal lung lobation ORPHA:567
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Osteopetrosis, Prominent floating ribs, Recurrent fractures ORPHA:2785
Wiedemann-Rautenstrauch Syndrome
Delayed closure of the anterior fontanelle, Short neck, Flexion contracture, Thin ribs, Narrow ch... OMIM:264090
Relapsing Polychondritis
Atelectasis ORPHA:728
Digeorge Syndrome
Atelectasis, Recurrent pneumonia, Recurrent sinusitis OMIM:188400

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 Lfng

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 Lfng.

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

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Lfngem1(IMPC)Wtsi PMC7263671

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MGI Allele Allele Type Produced
Lfngem1(IMPC)Wtsi Deletion Mice
Lfngtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Lfngtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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