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Gene: Tpte MGI:2446460

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Gene Summary

Name:
transmembrane phosphatase with tensin homology
Synonyms:
Pten2,  Vsp

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spine curvature Tpteem1(IMPC)Kmpc HOM Early adult 1.51×10-05
hyperactivity Tpteem1(IMPC)Kmpc HOM   Early adult 5.23×10-06
kyphosis Tpteem1(IMPC)Kmpc HOM Early adult 1.51×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Hind Leg and Hip

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Human diseases caused by Tpte 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.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
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 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
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
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
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
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 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
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 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
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
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
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 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Nondisjunction
Decreased fertility OMIM:158250
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
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
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Scoliosis OMIM:616311
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors OMIM:301107
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hyperactivity ORPHA:85288
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hyperactivity, Scoliosis, Bruxism OMIM:300434
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Scoliosis, Dysphagia OMIM:618323
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Kyphoscoliosis, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Attention deficit hyperactivity disorder OMIM:620007
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Cdkl5-Deficiency Disorder
Kyphosis, Inappropriate laughter, Scoliosis, Bruxism, Stereotypical hand wringing ORPHA:505652
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... OMIM:271630
Kleefstra Syndrome 2
Self-injurious behavior, Kyphosis, Scoliosis OMIM:617768
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
O'Donnell-Luria-Rodan Syndrome
Self-injurious behavior, Kyphosis, Skin-picking, Aggressive behavior OMIM:618512
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, Self-injurious behavior, Thoracic kypho... OMIM:619467
Winchester Syndrome
Kyphosis OMIM:277950
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Scoliosis, Aggressive behavior OMIM:618362
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Ck Syndrome
Hyperactivity, Hyperlordosis, Aggressive behavior, Kyphosis, Scoliosis OMIM:300831
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Agitation, Kyphoscoliosis OMIM:618339
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Lopes-Maciel-Rodan Syndrome
Kyphosis, Bruxism, Agitation, Scoliosis, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Scolio... OMIM:620141
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Dysphagia ORPHA:500180
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Hyperactivity, Scoliosis, Aggressive behavior OMIM:620023
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Kyphosis, Compulsive behaviors, Attention deficit ... ORPHA:352490
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Sandhoff Disease
Kyphosis ORPHA:796
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Kyphoscoliosis, Anorexia, Aggressive behavior, Abnormal fear-induced behavior ORPHA:3077
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis OMIM:301900
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Scoliosis, Aggressive behavior ORPHA:457260
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Compulsive behaviors OMIM:615761
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Scoliosis, Self-biting OMIM:300624
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Lamb-Shaffer Syndrome
Hyperactivity, Fused cervical vertebrae, Thoracic kyphosis, Abnormal temper tantrums, Scoliosis, ... ORPHA:530983
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Scoliosis, Abnormal repetitive mannerisms ORPHA:391307
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Atypical Rett Syndrome
Restrictive behavior, Kyphosis, Tongue thrusting, Agitation, Inappropriate laughter, Scoliosis, S... ORPHA:3095
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Scoliosis, Recurrent hand flapping, Abno... OMIM:617600
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Hyperactivity, Scoliosis OMIM:615834
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Scoliosis, Short neck ORPHA:178148
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis OMIM:618237
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Scoliosis, Short neck OMIM:611890
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:48431
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Attention deficit hyperactivity disorder OMIM:615433
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:618484
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis OMIM:618124
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Scoliosis, Dysphagia OMIM:606612
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Self-injurious behavior, Scoliosis, Abnormal repetitive mannerisms ORPHA:238750
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis, Dysphagia ORPHA:79107
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:2617
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Mcdonough Syndrome
Kyphosis, Scoliosis ORPHA:2471
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity, Dysphagia ORPHA:352447
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Schaaf-Yang Syndrome
Impulsivity, Kyphosis, Skin-picking, Scoliosis, Polyphagia OMIM:615547
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Attention deficit hyperactivity disorder ORPHA:261222
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... ORPHA:449291
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Dystonia 1, Torsion, Autosomal Dominant
Hyperlordosis, Kyphosis, Scoliosis, Dysphagia OMIM:128100
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Dysphagia, Beaking of vertebral bodies OMIM:252930
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis OMIM:619797
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Scoliosis OMIM:614409
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Hyperactivity, Aggressive behavior OMIM:300354
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis, Dysphagia OMIM:617143
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:607155
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Kyphosis, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attentio... OMIM:617061
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:3191
Clark-Baraitser syndrome
Kyphosis, Scoliosis OMIM:300602
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Rett Syndrome
Kyphosis, Scoliosis, Stereotypical hand wringing, Bruxism OMIM:312750
Alpha-Mannosidosis
Kyphosis, Scoliosis, Short neck ORPHA:61
Sialidosis Type 2
Kyphosis ORPHA:87876
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Scoliosis ORPHA:464282
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Kyphosis, Attention deficit hyperactivity disorder, Abnormal te... ORPHA:500055
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Abnormal repetitive mannerisms, Scoliosis ORPHA:261144
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Flynn-Aird Syndrome
Kyphosis, Scoliosis ORPHA:2047
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Diastrophic Dysplasia
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies ORPHA:628
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... ORPHA:2311
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Arthrogryposis, Distal, Type 4
Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300280
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Short neck, Scoliosis, Dysphagia OMIM:301041
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis, Compulsive behaviors ORPHA:404440
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis ORPHA:171436
19P13.12 Microdeletion Syndrome
Hyperactivity, Short neck, Kyphosis, Self-injurious behavior, Scoliosis ORPHA:254346
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Kyphosis, Attention deficit hyperactivity disorder, Compulsive behaviors, Sc... ORPHA:476126
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis ORPHA:98863
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98855
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Wieacker-Wolff Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:314580
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Dysphagia OMIM:619909
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Self-mutilation, Scoliosis, Aggressive behavior ORPHA:364028
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Urban-Rogers-Meyer Syndrome
Kyphosis, Short neck ORPHA:3409
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Sialidosis Type 1
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck OMIM:608776
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology ORPHA:324737
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Agitation OMIM:219080
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis, Compulsive behaviors OMIM:618443
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Short neck, Aggressive behavior, Kyphosis, Scoliosis ORPHA:85293
Marinesco-Sjogren Syndrome
Kyphosis, Scoliosis OMIM:248800
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Agitation OMIM:610475
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98853
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Polyphagia OMIM:300942
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis ORPHA:3121
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Rett Syndrome, Congenital Variant
Kyphosis, Tongue thrusting, Scoliosis, Bruxism, Abnormal repetitive mannerisms OMIM:613454
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies OMIM:230500
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Scoliosis, Spinal rigidity OMIM:254090
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis OMIM:615381
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... OMIM:253010
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Postencephalitic Parkinsonism
Kyphosis, Camptocormia, Dysphagia ORPHA:97349
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body, Inappropriate laughter OMIM:618476
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis ORPHA:702
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Gm1 Gangliosidosis
Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis, Dysphag... ORPHA:354
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Abnormal repetitive mannerisms, Scoliosis ORPHA:2479
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Scoliosis, Overfriendliness ORPHA:96169
15Q24 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:94065
Mucopolysaccharidosis Type 6
Kyphosis, Ovoid vertebral bodies, Short neck ORPHA:583
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Aggressive behavior OMIM:619244
Harrod Syndrome
Kyphosis, Scoliosis ORPHA:2115
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2789
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis, Dysphagia OMIM:211530
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis, Anorexia ORPHA:1969
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Congenital Myopathy 22A, Classic
Kyphosis, Thoracic scoliosis, Scoliosis, Spinal rigidity OMIM:620351
Microphthalmia, Lenz Type
Self-injurious behavior, Kyphosis, Scoliosis, Hyperlordosis ORPHA:568
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis, Compulsive behaviors, Frequent tem... OMIM:618050
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:253220
Histidinemia
Hyperactivity ORPHA:2157
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Pelger-Huet Anomaly
Kyphosis OMIM:169400
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis OMIM:617190
Trisomy 13
Kyphosis, Scoliosis ORPHA:3378
Koolen-De Vries Syndrome
Vertebral fusion, Hyperactivity, Sacral dimple, Impulsivity, Kyphosis, Scoliosis, Spondylolisthesis OMIM:610443
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Agitation OMIM:610489
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis ORPHA:88628
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
3C Syndrome
Kyphosis, Hemivertebrae, Scoliosis, Short neck ORPHA:7
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Scoliosis, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Se... OMIM:619005
Marden-Walker Syndrome
Kyphosis, Scoliosis, Short neck OMIM:248700
Hurler-Scheie Syndrome
Kyphosis, Scoliosis OMIM:607015
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Attention deficit hyperactivity disorder OMIM:618223
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Oral-pharyngeal dysphagia, Kyphosis, Prominent protruding coccyx, Prom... OMIM:300966
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Cockayne Syndrome Type 2
Kyphosis, Scoliosis ORPHA:90322
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis ORPHA:2075
Emanuel Syndrome
Kyphosis, Sacral dimple, Scoliosis OMIM:609029
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Kyphosis, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Scoliosis, P... ORPHA:398069
Jaberi-Elahi Syndrome
Kyphosis, Scoliosis OMIM:617988
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies OMIM:219090
Trisomy 20P
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Platy... ORPHA:261318
Coffin-Lowry Syndrome
Self-injurious behavior, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:192
2P15P16.1 Microdeletion Syndrome
Kyphosis, Scoliosis, Attention deficit hyperactivity disorder, Dysphagia ORPHA:261349
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Fucosidosis
Kyphosis, Anterior beaking of lumbar vertebrae ORPHA:349
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies OMIM:130720
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture, Anorexia ORPHA:77259
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis, Dysphagia ORPHA:261250
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Hemivertebrae, Scoliosis, Abnormal repetitive mannerisms OMIM:301040
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Pycnodysostosis
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:763
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Scoliosis OMIM:619951
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Alexander Disease
Hyperlordosis, Short neck, Kyphosis, Self-injurious behavior, Scoliosis, Dysphagia ORPHA:58
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis OMIM:616482
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Cowden Syndrome 5
Kyphosis, Scoliosis OMIM:615108
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis OMIM:616449
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Monosomy 9Q22.3
Kyphosis, Hyperactivity, Abnormality of the vertebral column, Short neck ORPHA:77301
Micro Syndrome
Kyphosis, Scoliosis ORPHA:2510
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Scoliosis OMIM:618493
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Cowden Syndrome 6
Kyphosis, Scoliosis OMIM:615109
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Kyphosis, Biconcave vertebral bodies, C1-C2 sublu... OMIM:607014
Atelis Syndrome 2
Kyphosis, Sacral dimple, Attention deficit hyperactivity disorder OMIM:620185
Prader-Willi Syndrome
Kyphosis, Self-injurious behavior, Scoliosis, Attention deficit hyperactivity disorder, Polyphagia OMIM:176270
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Scoliosis ORPHA:2215
Distal Triplication 15Q
Kyphosis, Scoliosis ORPHA:314588
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Scoliosis OMIM:617602
Alstrom Syndrome
Kyphosis, Scoliosis OMIM:203800
Noonan Syndrome 14
Kyphosis, Short neck OMIM:619745
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Abnormally s... ORPHA:800
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Abnormal repetitive mannerisms, Scoliosis, Attention deficit hyperactivity disorder, Ab... ORPHA:464311
Mgat2-Cdg
Kyphosis, Scoliosis, Stereotypical hand wringing ORPHA:79329
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis, Aggressive behavior ORPHA:464738
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Scoliosis, Hyperlordosis OMIM:162300
Cowden Syndrome 1
Kyphosis, Scoliosis OMIM:158350
Mucopolysaccharidosis, Type Ii
Kyphosis, Short neck OMIM:309900
Weaver Syndrome
Kyphosis, Polyphagia, Scoliosis OMIM:277590
Mend Syndrome
Kyphosis, Hyperactivity, Sacral dimple, Aggressive behavior ORPHA:401973
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive comp... OMIM:619475
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Kyphosis, Abnormal repetitive mannerisms, Scoliosis, Abnormality of the cervical s... ORPHA:464306
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis, Dysphagia OMIM:619482
Multiple Pterygium Syndrome, Escobar Variant
Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Scoliosis, Anterior clef... OMIM:265000
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Dysphagia OMIM:617527
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Dysphagia OMIM:619708
2Q31.1 Microdeletion Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis, Short neck ORPHA:251014
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Kyphosis ORPHA:521426
Classic Homocystinuria
Kyphosis, Scoliosis, Anorexia ORPHA:394
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Cardiofacioneurodevelopmental Syndrome
Kyphosis OMIM:619123
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis ORPHA:536532
Cohen Syndrome
Kyphosis, Scoliosis ORPHA:193
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly ORPHA:1855
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Cdags Syndrome
Kyphosis OMIM:603116
Marshall-Smith Syndrome
Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Thoracic kyphos... OMIM:602535
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Sacral dimple, Scoliosis, Short neck OMIM:616894
Marden-Walker Syndrome
Kyphosis, Scoliosis, Attention deficit hyperactivity disorder, Abnormal form of the vertebral bodies ORPHA:2461
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Mend Syndrome
Kyphosis, Hyperactivity, Sacral dimple OMIM:300960
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Sacral dimple, Hyperlordosis, Kyphosis, Inappropriate laughter, Attention defic... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Sacral dimple, Hyperlordosis, Kyphosis, Inappropriate laughter, Attention defic... ORPHA:363958
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop... ORPHA:3042
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Impulsivity, Aggressive behavior, Kyphosis, Scoliosis OMIM:300967
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis OMIM:212065
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Ramon Syndrome
Kyphosis, Scoliosis OMIM:266270
Camurati-Engelmann Disease
Anorexia, Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Scoliosis ORPHA:1328
Triosephosphate Isomerase Deficiency
Kyphosis OMIM:615512
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1507
Smith-Lemli-Opitz Syndrome
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Self-injurious behavior, Scoliosis, ... ORPHA:818
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Wolf-Hirschhorn Syndrome
Sacral dimple, Kyphosis, Abnormal form of the vertebral bodies, Abnormality of the vertebral colu... ORPHA:280
Hajdu-Cheney Syndrome
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave vertebral bodies ORPHA:955
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Self-injurious behavior, Platyspondyly, Compulsive behaviors, Attention deficit hyperac... ORPHA:534
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Kyphosis, Scoliosis, Short neck OMIM:619194
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Aggressive behavior, Kyphosis, Scoliosis, Dysphagia, Stereotypical hand wringing ORPHA:268261
Marfan Syndrome
Kyphosis, Scoliosis, Attention deficit hyperactivity disorder, Spondylolisthesis ORPHA:558
Poland Syndrome
Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2911
Aspartylglucosaminuria
Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis OMIM:208400
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis ORPHA:2232
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:457359
X-Linked Intellectual Disability, Snyder Type
Kyphosis, Kyphoscoliosis ORPHA:3063
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebral bodie... ORPHA:666
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Kyphosis, Platyspondyly, Scoliosis, Abnormal repetitive mannerisms OMIM:309000
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis, Dysphagia ORPHA:198
1P36 Deletion Syndrome
Kyphosis, Polyphagia, Spinal canal stenosis, Self-injurious behavior, Scoliosis, Dysphagia, Abnor... ORPHA:1606
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Neurofibromatosis Type 1
Kyphosis, Scoliosis, Attention deficit hyperactivity disorder ORPHA:636
Zttk Syndrome
Kyphosis, Hemivertebrae, Scoliosis OMIM:617140
Cockayne Syndrome Type 3
Kyphosis, Scoliosis ORPHA:90324
Occipital Horn Syndrome
Kyphosis, Platyspondyly OMIM:304150
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Scoliosis ORPHA:2658
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abno... OMIM:194190
Mucolipidosis Type Ii
Kyphosis ORPHA:576
Stickler Syndrome
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:828
Primrose Syndrome
Restlessness, Aggressive behavior, Kyphosis, Self-injurious behavior, Irregular vertebral endplat... OMIM:259050
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Cowden Syndrome
Kyphosis, Scoliosis ORPHA:201
Coffin-Siris Syndrome 1
Sacral dimple, Aggressive behavior, Kyphosis, Scoliosis, Compulsive behaviors, Spina bifida occulta OMIM:135900
Cockayne Syndrome B
Kyphosis OMIM:133540
Cockayne Syndrome A
Kyphosis OMIM:216400
Williams Syndrome
Sacral dimple, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmenta... ORPHA:904
Cockayne Syndrome
Kyphosis, Scoliosis ORPHA:191
Turner Syndrome Due To Structural X Chromosome Anomalies
Kyphosis, Scoliosis, Attention deficit hyperactivity disorder, Short neck ORPHA:99413
Turner Syndrome
Kyphosis, Scoliosis, Attention deficit hyperactivity disorder, Short neck ORPHA:881
Mosaic Monosomy X
Kyphosis, Scoliosis, Attention deficit hyperactivity disorder, Short neck ORPHA:99228
Monosomy X
Kyphosis, Scoliosis, Attention deficit hyperactivity disorder, Short neck ORPHA:99226
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Lumbar kyphosis OMIM:303600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:2273
Acromegaly
Kyphosis, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Kyphosis, Spinal canal stenosis ORPHA:314769
17Q11 Microdeletion Syndrome
Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis ORPHA:97685
Sotos Syndrome
Sacrococcygeal teratoma, Aggressive behavior, Kyphosis, Scoliosis, Attention deficit hyperactivit... ORPHA:821
Wrinkly Skin Syndrome
Kyphosis, Scoliosis OMIM:278250
Proteus Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:744
Viss Syndrome
Kyphosis, Butterfly vertebrae, Scoliosis, Dysphagia OMIM:619472
Branchiooculofacial Syndrome
Hyperlordosis, Kyphosis, Short neck OMIM:113620
Yunis-Varon Syndrome
Kyphosis, Anterior concavity of thoracic vertebrae OMIM:216340
Alström Syndrome
Kyphosis, Thoracic scoliosis, Polyphagia, Lumbar scoliosis ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tpte

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 Tpte.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Tptetm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tpteem1(IMPC)Kmpc Exon Deletion Mice
Tptetm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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