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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
kyphosis Tpteem1(IMPC)Kmpc HOM Early adult 1.51×10-05
hyperactivity Tpteem1(IMPC)Kmpc HOM   Early adult 5.23×10-06

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Viewing: all phenotypes

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 Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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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
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
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
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Nondisjunction
Decreased fertility OMIM:158250
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Scoliosis OMIM:616311
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
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
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
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
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
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
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
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly ORPHA:93304
Deleted in azoospermia
Azoospermia OMIM:400003
Intellectual Developmental Disorder, X-Linked 111
Kyphoscoliosis, Hyperactivity, Compulsive behaviors, Phonic tics, Aggressive behavior OMIM:301107
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Scoliosis, Bruxism, Kyphosis OMIM:300434
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Kyphosis ORPHA:85288
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism OMIM:620103
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis OMIM:236660
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Dysphagia, Kyphosis, Spinal rigidity OMIM:618323
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck OMIM:300718
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos... OMIM:271530
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Intervertebral s... OMIM:271630
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Attention deficit hyperactivity disorder, Kyphosis OMIM:620007
Cdkl5-Deficiency Disorder
Scoliosis, Stereotypical hand wringing, Kyphosis, Inappropriate laughter, Bruxism ORPHA:505652
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:615541
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Kleefstra Syndrome 2
Self-injurious behavior, Scoliosis, Kyphosis OMIM:617768
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
O'Donnell-Luria-Rodan Syndrome
Self-injurious behavior, Skin-picking, Kyphosis, Aggressive behavior OMIM:618512
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity OMIM:617404
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Thoracic kyphosis, Compulsive behaviors, Self-injurious behavior, Lumbar hyperlord... OMIM:619467
Winchester Syndrome
Kyphosis OMIM:277950
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp... ORPHA:52901
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Coffin-Siris Syndrome 8
Hyperactivity, Self-injurious behavior, Scoliosis, Aggressive behavior OMIM:618362
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... OMIM:612650
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Ck Syndrome
Hyperactivity, Scoliosis, Hyperlordosis, Kyphosis, Aggressive behavior OMIM:300831
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... ORPHA:320391
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens ORPHA:48
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Kyphoscoliosis, Self-injurious behavior, Agitation OMIM:618339
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Lopes-Maciel-Rodan Syndrome
Agitation, Scoliosis, Kyphosis, Dysphagia, Motor stereotypy, Bruxism OMIM:617435
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Scoliosis, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention defi... OMIM:620141
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Kyphosis, Dysphagia, Aggressive behavior ORPHA:500180
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Lumbar hyperlordosis, Kyphosis OMIM:616756
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
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
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Scoliosis, Compulsive behaviors, Kyphosis, Motor stereotypy, Repetitive compulsive... ORPHA:352490
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Hypoplasia of the odontoid process, Irregular vertebral endplates, Platyspondyly,... OMIM:184100
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Sandhoff Disease
Kyphosis ORPHA:796
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Self-injurious behavior, Scoliosis, Aggressive behavior OMIM:620023
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Kyphoscoliosis, Anorexia, Abnormal fear-induced behavior, Hyperactivity, Aggressive behavior ORPHA:3077
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis OMIM:301900
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Scoliosis, Aggressive behavior ORPHA:457260
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Scoliosis, Impulsivity, Self-mutilation, Paroxysmal bursts of laughter OMIM:620445
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis OMIM:618393
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Scoliosis, Hyperlordosis, Compulsive behaviors, Kyphosis OMIM:615761
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis ORPHA:99014
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyp... OMIM:313400
Fragile X Syndrome
Hyperactivity, Scoliosis, Recurrent hand flapping, Self-biting OMIM:300624
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis OMIM:615290
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Fused cervical vertebrae, Hyperactivity, Scoliosis, Thoracic kyphosis, ... ORPHA:530983
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Atypical Rett Syndrome
Agitation, Restrictive behavior, Tongue thrusting, Scoliosis, Kyphosis, Stereotypical hand wringi... ORPHA:3095
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Hyperactivity, Scoliosis, Motor stereotypy, Aggressive behavior ORPHA:391307
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Kyphosis OMIM:230650
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis OMIM:300861
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Irregular vertebral endplates, Kyphosis OMIM:234250
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Scoliosis, Kyphosis ORPHA:178148
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphos... ORPHA:2635
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Intellectual Developmental Disorder, Autosomal Dominant 26
Hyperactivity, Scoliosis, Kyphosis OMIM:615834
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Scoliosis, Recurrent hand flapping, Motor stereotypy, Attention deficit hyperactiv... OMIM:617600
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
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
Short neck, Scoliosis, Kyphosis OMIM:611890
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Kyphosis OMIM:618484
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Ullrich Congenital Muscular Dystrophy
Short neck, Scoliosis, Kyphosis, Spinal rigidity ORPHA:75840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Dysphagia, Vertebral fusion OMIM:606612
Chromosome 3Q13.31 Deletion Syndrome
Attention deficit hyperactivity disorder, Kyphosis OMIM:615433
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis ORPHA:2181
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Kyphosis OMIM:618124
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis ORPHA:2771
Metatropic Dysplasia
Kyphoscoliosis, Caudal appendage, Relatively short spine, Scoliosis, Long coccyx, Anisospondyly, ... OMIM:156530
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Abnormality of the cervical spine, Kyphosis ORPHA:48431
4Q21 Microdeletion Syndrome
Scoliosis, Kyphosis, Motor stereotypy, Self-injurious behavior, Short neck ORPHA:238750
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Dysphagia, Kyphosis, Neuropathic spinal arthropathy ORPHA:352447
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis ORPHA:816
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Vertebral segmentation defect, Kyphosis ORPHA:2617
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Dysphagia, Kyphosis ORPHA:79107
Bruck Syndrome 1
Vertebral wedging, Scoliosis, Platyspondyly, Kyphosis OMIM:259450
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:255200
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Mcdonough Syndrome
Scoliosis, Kyphosis ORPHA:2471
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis OMIM:616455
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Kyphosis ORPHA:1883
Schaaf-Yang Syndrome
Scoliosis, Polyphagia, Impulsivity, Kyphosis, Skin-picking OMIM:615547
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis ORPHA:2522
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy OMIM:615084
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Kyphosis ORPHA:261222
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Hyperactivity, Scoliosis, Recurrent hand flapping, Motor stereotypy, At... ORPHA:449291
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Dysphagia, Kyphosis OMIM:128100
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis OMIM:151800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Kyphosis, Vertebral fusion OMIM:607155
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Kyphosis OMIM:619797
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Hyperactivity, Ovoid thoracolumbar vertebrae, Dysphagia OMIM:252930
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Kyphosis OMIM:614409
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Lead Poisoning
Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abnormality of the m... ORPHA:330015
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Scoliosis, Hyperlordosis, Kyphosis, Ovoid ... OMIM:253000
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Scoliosis, Kyphosis, Atlantoaxial instability, Hypoplasia of the odo... OMIM:607326
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3344
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Kyphosis, Aggressive behavior OMIM:300354
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis ORPHA:3085
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Dysphagia, Kyphosis OMIM:617143
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Kyphosis OMIM:618272
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scoliosis, Compulsive behaviors, Kyphosis, Dysphagia, Motor stereotypy, Attention deficit hyperac... OMIM:617061
Becker Nevus Syndrome
Scoliosis, Kyphosis, Spina bifida occulta ORPHA:64755
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis... ORPHA:93314
Ruvalcaba Syndrome
Scoliosis, Kyphosis OMIM:180870
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3098
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Alg1-Cdg
Scoliosis, Kyphosis ORPHA:79327
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Scoliosis, Hyperlordosis, Kyphosis ORPHA:536516
Crisponi Syndrome
Scoliosis, Kyphosis ORPHA:1545
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Subaortic Stenosis-Short Stature Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:3191
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Kyphosis ORPHA:464282
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Obsessive-compulsive trait, Abnormal temper tantrums, Scoliosis, Impulsivity, Kyphosis, Skin-pick... ORPHA:500055
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Kyphosis OMIM:609541
Sialidosis Type 2
Kyphosis ORPHA:87876
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Kyphosis, Hypoplastic vertebral ... ORPHA:2916
Rett Syndrome
Scoliosis, Bruxism, Stereotypical hand wringing, Kyphosis OMIM:312750
Alpha-Mannosidosis
Short neck, Scoliosis, Kyphosis ORPHA:61
Mucolipidosis Iii Gamma
Short neck, Scoliosis, Hyperlordosis, Kyphosis OMIM:252605
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Motor stereotypy, Kyphosis ORPHA:261144
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Kyphosis, Atlantoaxial instability, Ovoid vertebral bodies, Hypoplasia of the odontoid... OMIM:183900
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Spina bifida occulta, Kyphosis ORPHA:2983
Diastrophic Dysplasia
Scoliosis, Hypoplastic cervical vertebrae, Kyphosis, Abnormal form of the vertebral bodies ORPHA:628
Trisomy 9P
Short neck, Scoliosis, Sacral dimple, Kyphosis ORPHA:236
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... ORPHA:2311
Fliedner-Zweier Syndrome
Self-injurious behavior, Scoliosis, Kyphosis, Aggressive behavior OMIM:620511
Flynn-Aird Syndrome
Scoliosis, Kyphosis ORPHA:2047
Spondyloepiphyseal Dysplasia Congenita
Spinal rigidity, Cervical instability, Scoliosis, Abnormally ossified vertebrae, Kyphosis, Back p... ORPHA:94068
Arthrogryposis, Distal, Type 5
Scoliosis, Kyphosis OMIM:108145
Arthrogryposis, Distal, Type 4
Lumbar scoliosis, Scoliosis, Kyphosis OMIM:609128
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Scoliosis, Kyphosis OMIM:300280
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Progressive Non-Infectious Anterior Vertebral Fusion
Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Sc... ORPHA:2062
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Kyphosis OMIM:181405
19P13.12 Microdeletion Syndrome
Hyperactivity, Scoliosis, Kyphosis, Self-injurious behavior, Short neck ORPHA:254346
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Attention deficit hyperactivity disorder, Scoliosis, Compulsive behaviors, Kyphosis ORPHA:404440
Thanatophoric Dysplasia
Platyspondyly, Kyphosis, Abnormal sacroiliac joint morphology ORPHA:2655
Pontocerebellar Hypoplasia, Type 17
Dysphagia, Kyphosis OMIM:619909
Typical Nemaline Myopathy
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck ORPHA:171436
Wieacker-Wolff Syndrome, Female-Restricted
Short neck, Scoliosis, Dysphagia, Kyphosis OMIM:301041
Stickler Syndrome, Type I
Beaking of vertebral bodies, Spondylolisthesis, Scoliosis, Kyphosis, Morbus Scheuermann, Platyspo... OMIM:108300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Platyspondyly, Scoliosis, Kyphosis, Abnormal curvature of the vertebral column, T... ORPHA:93360
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:617821
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Sacral dimple, Spina bifida occulta, Kyphosis OMIM:618291
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Compulsive behaviors, Kyphosis, Motor stereotypy, Attention deficit hyperactivity diso... ORPHA:476126
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis ORPHA:324737
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Kyphosis, Spinal canal stenosis, Platyspondyly, Short neck ORPHA:582
X-Linked Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain, Short neck ORPHA:98863
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain ORPHA:98855
Wieacker-Wolff Syndrome
Short neck, Scoliosis, Hyperlordosis, Kyphosis OMIM:314580
X-Linked Intellectual Disability Due To Gria3 Mutations
Scoliosis, Self-mutilation, Kyphosis, Aggressive behavior ORPHA:364028
Achondroplasia
Cervical spinal canal stenosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Lumbar h... ORPHA:15
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Scoliosis, Kyphosis OMIM:259420
Urban-Rogers-Meyer Syndrome
Short neck, Kyphosis ORPHA:3409
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Sialidosis Type 1
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:812
Pseudoachondroplasia
Beaking of vertebral bodies, Scoliosis, Kyphosis, Hypoplasia of the odontoid process, Atlantoaxia... OMIM:177170
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Hyperlordosis, Compulsive behaviors, Kyphosis, Thoracolumbar scoliosis OMIM:618443
Acth-Independent Macronodular Adrenal Hyperplasia
Agitation, Kyphosis OMIM:219080
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hyperlordosis, Kyphosis, Ovoid vertebral bodies, Hypoplasia of the odontoid process, P... OMIM:253010
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Kyphosis ORPHA:261190
Marinesco-Sjogren Syndrome
Scoliosis, Kyphosis OMIM:248800
Pigmented Nodular Adrenocortical Disease, Primary, 2
Agitation, Kyphosis OMIM:610475
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Scoliosis, Kyphosis, Short neck, Aggressive behavior ORPHA:85293
Chromosome Xq26.3 Duplication Syndrome
Polyphagia, Kyphosis OMIM:300942
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis ORPHA:93274
Rett Syndrome, Congenital Variant
Tongue thrusting, Scoliosis, Kyphosis, Motor stereotypy, Bruxism OMIM:613454
Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain ORPHA:98853
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis ORPHA:3121
Postencephalitic Parkinsonism
Camptocormia, Dysphagia, Kyphosis ORPHA:97349
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis OMIM:615381
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Kyphosis ORPHA:3082
Fountain Syndrome
Scoliosis, Spina bifida occulta, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3219
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Scoliosis, Kyphosis, Hypoplastic vertebral bodies, Short neck OMIM:230500
Ullrich Congenital Muscular Dystrophy 1A
Scoliosis, Kyphosis, Spinal rigidity OMIM:254090
Desbuquois Dysplasia 1
Scoliosis, Hyperlordosis, Kyphosis, Platyspondyly, Short neck OMIM:251450
Pituitary Adenoma 4, Acth-Secreting
Biconcave vertebral bodies, Vertebral compression fracture, Abnormal fear-induced behavior, Kyphosis OMIM:219090
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Spondyloarthropathy, Susceptibility To, 1
Back pain, Sacroiliac arthritis, Kyphosis OMIM:106300
3M Syndrome
Increased vertebral height, Scoliosis, Hyperlordosis, Kyphosis, Short neck ORPHA:2616
Pelizaeus-Merzbacher Disease
Scoliosis, Kyphosis ORPHA:702
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Inappropriate laughter, Sclerotic vertebral body, Kyphosis OMIM:618476
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Caudal interpedicular narrowing, Scoliosis, Kyphosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Cono-Spondylar Dysplasia
Short neck, Scoliosis, Kyphosis ORPHA:420794
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kyphosis, Dysphagia, Platyspondy... ORPHA:354
Congenital Myopathy 22A, Classic
Scoliosis, Spinal rigidity, Kyphosis, Thoracic scoliosis OMIM:620351
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kyphosis, Short neck ORPHA:2789
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Motor stereotypy, Kyphosis ORPHA:2479
Harrod Syndrome
Scoliosis, Kyphosis ORPHA:2115
Koolen-De Vries Syndrome
Scoliosis, Vertebral segmentation defect, Kyphosis, Overfriendliness, Vertebral fusion ORPHA:96169
Dysostosis, Stanescu Type
Short neck, Scoliosis, Hyperlordosis, Kyphosis ORPHA:1798
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis OMIM:608776
15Q24 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:94065
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Aggressive behavior OMIM:619244
Mucopolysaccharidosis Type 6
Short neck, Ovoid vertebral bodies, Kyphosis ORPHA:583
Microphthalmia, Lenz Type
Self-injurious behavior, Scoliosis, Hyperlordosis, Kyphosis ORPHA:568
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Kyphosis, Hypoplasia of the odont... OMIM:253220
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Anorexia, Scoliosis, Kyphosis ORPHA:1969
Intellectual Developmental Disorder, Autosomal Dominant 57
Scoliosis, Compulsive behaviors, Frequent temper tantrums, Kyphosis, Attention deficit hyperactiv... OMIM:618050
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Hyperactivity, Scoliosis, Kyphosis, Impulsivity, Vertebral fusion OMIM:610443
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Dysphagia, Kyphosis OMIM:211530
Shashi-Pena Syndrome
Scoliosis, Cervical C2/C3 vertebral fusion, Kyphosis OMIM:617190
Pelger-Huet Anomaly
Kyphosis OMIM:169400
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Scoliosis, Thoracic kyphosis, Kyphosis, Hypoplasia of the odontoid p... OMIM:223800
Histidinemia
Hyperactivity ORPHA:2157
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Vertebral segmentation defect, Kyphosis ORPHA:1005
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Scoliosis, Hemivertebrae, Kyphosis, Short neck ORPHA:958
Trisomy 13
Scoliosis, Kyphosis ORPHA:3378
Pigmented Nodular Adrenocortical Disease, Primary, 1
Agitation, Kyphosis OMIM:610489
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Cervical spinal canal stenosis, Sacral dimple, Cervical instability, Increased intervertebral spa... ORPHA:508533
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Kyphosis ORPHA:88628
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Scoliosis, Kyphosis, Motor stereotypy, Attention deficit hyperactivity disorder, Self-mutilation OMIM:619005
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis OMIM:616294
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
3C Syndrome
Short neck, Scoliosis, Hemivertebrae, Kyphosis ORPHA:7
Thanatophoric Dysplasia Type 1
Platyspondyly, Kyphosis, Abnormal sacroiliac joint morphology ORPHA:1860
Hurler-Scheie Syndrome
Scoliosis, Kyphosis OMIM:607015
Marden-Walker Syndrome
Short neck, Scoliosis, Kyphosis OMIM:248700
Spondyloperipheral Dysplasia
Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates, Platyspondyly, Short neck OMIM:271700
Cockayne Syndrome Type 2
Scoliosis, Kyphosis ORPHA:90322
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Scoliosis, Hemivertebrae, Kyphosis, Attention deficit hyperactivity disorder, Short neck OMIM:618223
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Kyphosis ORPHA:88644
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Prominent protruding coccyx, Oral-pharyngeal dysphagia, Scoliosis, Kyphosis, Atten... OMIM:300966
Emanuel Syndrome
Scoliosis, Sacral dimple, Kyphosis OMIM:609029
Genitopalatocardiac Syndrome
Scoliosis, Kyphosis ORPHA:2075
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Scoliosis, Compulsive behaviors, Impulsivity, Kyphosis, Polyphagia, Ski... ORPHA:398069
Fucosidosis
Anterior beaking of lumbar vertebrae, Kyphosis ORPHA:349
Jaberi-Elahi Syndrome
Scoliosis, Kyphosis OMIM:617988
Intellectual Developmental Disorder, X-Linked 112
Kyphoscoliosis, Scoliosis, Kyphosis, Attention deficit hyperactivity disorder OMIM:301111
Trisomy 20P
Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Kyphosis, Platys... ORPHA:261318
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Mucolipidosis Iii Alpha/Beta
Scoliosis, Spondylolisthesis, Kyphosis OMIM:252600
2P15P16.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Scoliosis, Dysphagia, Kyphosis ORPHA:261349
Coffin-Lowry Syndrome
Self-injurious behavior, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:192
Lateral Meningocele Syndrome
Scoliosis, Kyphosis, Biconcave vertebral bodies, Short neck, Vertebral fusion OMIM:130720
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Scoliosis, Kyphosis OMIM:619951
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Scoliosis, Kyphosis OMIM:619557
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Scoliosis, Hemivertebrae, Kyphosis, Motor stereotypy OMIM:301040
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Ovoid vertebral bodies, Thoracol... OMIM:618019
16Q24.3 Microdeletion Syndrome
Scoliosis, Dysphagia, Kyphosis ORPHA:261250
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Scoliosis, Hyperlordosis, Kyphosis ORPHA:763
Alexander Disease
Scoliosis, Hyperlordosis, Kyphosis, Dysphagia, Self-injurious behavior, Short neck ORPHA:58
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Lumbar hyperlordosis, Kyphosis OMIM:616482
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Kyphosis, Biconcave vertebral bodies, ... OMIM:259770
Alkaptonuria
Low back pain, Intervertebral disk degeneration, Kyphosis, Vertebral fusion OMIM:203500
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Cowden Syndrome 5
Scoliosis, Kyphosis OMIM:615108
Monosomy 9Q22.3
Hyperactivity, Short neck, Kyphosis, Abnormality of the vertebral column ORPHA:77301
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Kyphosis OMIM:616449
Campomelic Dysplasia
Short neck, Scoliosis, Poorly ossified cervical vertebrae, Kyphosis ORPHA:140
Micro Syndrome
Scoliosis, Kyphosis ORPHA:2510
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Scoliosis, Kyphosis OMIM:618493
Mosaic Trisomy 20
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos... ORPHA:1724
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Scoliosis, Kyphosis OMIM:619718
Cowden Syndrome 6
Scoliosis, Kyphosis OMIM:615109
Hurler Syndrome
Kyphosis, Biconcave vertebral bodies, Short neck, Hypoplasia of the odontoid process, C1-C2 sublu... OMIM:607014
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Sacral dimple, Kyphosis OMIM:620185
Intellectual Developmental Disorder, Autosomal Dominant 73
Pica, Scoliosis, Hyperlordosis, Recurrent hand flapping, Self hugging, Kyphosis, Thoracolumbar sc... OMIM:620450
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Kyphosis ORPHA:2215
Distal Triplication 15Q
Scoliosis, Kyphosis ORPHA:314588
Mucopolysaccharidosis, Type Ii
Short neck, Kyphosis OMIM:309900
Congenital Heart Defects And Skeletal Malformations Syndrome
Scoliosis, Kyphosis OMIM:617602
Prader-Willi Syndrome
Scoliosis, Polyphagia, Kyphosis, Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:176270
Noonan Syndrome 14
Short neck, Kyphosis OMIM:619745
Mgat2-Cdg
Scoliosis, Stereotypical hand wringing, Kyphosis ORPHA:79329
Schwartz-Jampel Syndrome
Spinal rigidity, Scoliosis, Hyperlordosis, Abnormally ossified vertebrae, Kyphosis, Attention def... ORPHA:800
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Scoliosis, Kyphosis, Motor stereotypy, Attention deficit hyperactivity disorder, Abnormality of t... ORPHA:464311
Renal Cysts And Diabetes Syndrome
Hypospadias, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Epididymal cyst, Hy... OMIM:137920
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Kyphosis, Aggressive behavior ORPHA:464738
Weaver Syndrome
Scoliosis, Polyphagia, Kyphosis OMIM:277590
Multiple Endocrine Neoplasia, Type Iib
Scoliosis, Hyperlordosis, Kyphosis OMIM:162300
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Scoliosis, Dysphagia, Kyphosis OMIM:619482
Mend Syndrome
Hyperactivity, Sacral dimple, Kyphosis, Aggressive behavior ORPHA:401973
Cowden Syndrome 1
Scoliosis, Kyphosis OMIM:158350
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Scoliosis, Kyphosis, Motor stereotypy, Abnormality of the cervical spine ORPHA:464306
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Agitation, Restrictive behavior, Hyperactivity, Scoliosis, Compulsive behaviors, Kyphosis, Impuls... OMIM:619475
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Kyphosis OMIM:617527
Carney Complex
Testicular neoplasm, Decreased fertility in males, Ovarian dermoid cyst, Oligozoospermia, Ovarian... ORPHA:1359
2Q31.1 Microdeletion Syndrome
Short neck, Scoliosis, Vertebral segmentation defect, Kyphosis ORPHA:251014
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Kyphosis ORPHA:521426
Cardiofacioneurodevelopmental Syndrome
Kyphosis OMIM:619123
Multiple Pterygium Syndrome, Escobar Variant
Anterior clefting of vertebral bodies, Fused cervical vertebrae, Scoliosis, Kyphosis, Thoracolumb... OMIM:265000
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dysphagia, Kyphosis OMIM:619708
Shprintzen Omphalocele Syndrome
Scoliosis, Lumbar hyperlordosis, Kyphosis OMIM:182210
Familial Osteodysplasia, Anderson Type
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2769
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Anorexia, Scoliosis, Kyphosis ORPHA:394
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Sacral dimple, Kyphosis, Thoracic scoliosis ORPHA:536532
Marshall-Smith Syndrome
Kyphoscoliosis, Atlantoaxial dislocation, Scoliosis, Thoracic kyphosis, Kyphosis, Hypoplasia of t... OMIM:602535
Cohen Syndrome
Scoliosis, Kyphosis ORPHA:193
Cdags Syndrome
Kyphosis OMIM:603116
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Spondyloenchondrodysplasia
Platyspondyly, Kyphosis ORPHA:1855
Robinow Syndrome, Autosomal Dominant 3
Short neck, Scoliosis, Sacral dimple, Kyphosis OMIM:616894
Mend Syndrome
Hyperactivity, Sacral dimple, Kyphosis OMIM:300960
Marden-Walker Syndrome
Attention deficit hyperactivity disorder, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2461
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Posterior scalloping of vertebral bod... ORPHA:3042
Koolen-De Vries Syndrome Due To A Point Mutation
Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Scoliosis, Hyperlordosis, Kypho... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Scoliosis, Hyperlordosis, Kypho... ORPHA:363958
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Scoliosis, Impulsivity, Kyphosis, Aggressive behavior OMIM:300967
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Intervertebral space narrowing, Scoliosis, Kyphosis, Narrow vertebral interpedicu... OMIM:143095
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Scoliosis, Hyperlordosis, Kyphosis OMIM:617011
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis OMIM:212065
Frank-Ter Haar Syndrome
Kyphoscoliosis, Prominent coccyx, Kyphosis, Anterior concavity of thoracic vertebrae OMIM:249420
Ramon Syndrome
Scoliosis, Kyphosis OMIM:266270
Camurati-Engelmann Disease
Anorexia, Abnormality of the vertebral column, Scoliosis, Hyperlordosis, Kyphosis ORPHA:1328
Triosephosphate Isomerase Deficiency
Kyphosis OMIM:615512
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal vertebral morphology, Abnormal form of the vertebral bodies, Abnormality ... ORPHA:280
Autosomal Recessive Robinow Syndrome
Sacral dimple, Scoliosis, Vertebral segmentation defect, Kyphosis, Short neck ORPHA:1507
Smith-Lemli-Opitz Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Self-injurious behavior, Attention de... ORPHA:818
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Hajdu-Cheney Syndrome
Scoliosis, Kyphosis, Biconcave vertebral bodies, Hypoplastic 5th lumbar vertebrae, Short neck ORPHA:955
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Scoliosis, Kyphosis OMIM:619194
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Compulsive behaviors, Kyphosis, Attention deficit hyperactivity disorder, Motor stereo... ORPHA:534
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Scoliosis, Kyphosis, Stereotypical hand wringing, Dysphagia, Aggressive behavior ORPHA:268261
Cleidocranial Dysplasia 1
Scoliosis, Spondylolysis, Spondylolisthesis, Kyphosis OMIM:119600
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Lumbar hyperlordosis, Kyphosis ORPHA:2232
Poland Syndrome
Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Kyphosis, Short neck ORPHA:2911
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphoscoliosis, Lumbar hyperlordosis, Kyphosis ORPHA:457359
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Kyphosis ORPHA:3063
Osteogenesis Imperfecta
Vertebral compression fracture, Abnormal form of the vertebral bodies, Enlarged vertebral pedicle... ORPHA:666
Aspartylglucosaminuria
Beaking of vertebral bodies, Spondylolysis, Spondylolisthesis, Scoliosis, Kyphosis, Platyspondyly OMIM:208400
Lowe Oculocerebrorenal Syndrome
Scoliosis, Kyphosis, Motor stereotypy, Platyspondyly, Aggressive behavior OMIM:309000
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
1P36 Deletion Syndrome
Scoliosis, Polyphagia, Kyphosis, Spinal canal stenosis, Dysphagia, Motor stereotypy, Self-injurio... ORPHA:1606
Alstrom Syndrome
Scoliosis, Kyphosis OMIM:203800
Occipital Horn Syndrome
Platyspondyly, Scoliosis, Dysphagia, Kyphosis ORPHA:198
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Marfan Syndrome
Attention deficit hyperactivity disorder, Scoliosis, Spondylolisthesis, Kyphosis ORPHA:558
Cockayne Syndrome Type 3
Scoliosis, Kyphosis ORPHA:90324
Mucolipidosis Type Ii
Kyphosis ORPHA:576
Zttk Syndrome
Scoliosis, Hemivertebrae, Kyphosis OMIM:617140
Occipital Horn Syndrome
Platyspondyly, Kyphosis OMIM:304150
Stickler Syndrome
Spondylolisthesis, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Spinal canal steno... ORPHA:828
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Kyphosis ORPHA:2658
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Motor stereotypy, Vert... OMIM:194190
Primrose Syndrome
Tics, Kyphosis, Posterior scalloping of vertebral bodies, Restlessness, Irregular vertebral endpl... OMIM:259050
Neurofibromatosis Type 1
Attention deficit hyperactivity disorder, Scoliosis, Kyphosis ORPHA:636
Spondyloepimetaphyseal Dysplasia, X-Linked
Kyphosis, Anterior wedging of T12, Hypoplasia of the odontoid process, Platyspondyly, Anterior we... OMIM:300106
Cockayne Syndrome B
Kyphosis OMIM:133540
Cockayne Syndrome A
Kyphosis OMIM:216400
Cowden Syndrome
Scoliosis, Kyphosis ORPHA:201
Coffin-Siris Syndrome 1
Sacral dimple, Spina bifida occulta, Scoliosis, Compulsive behaviors, Kyphosis, Aggressive behavior OMIM:135900
Williams Syndrome
Sacral dimple, Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Hyperlordo... ORPHA:904
Cockayne Syndrome
Scoliosis, Kyphosis ORPHA:191
Turner Syndrome Due To Structural X Chromosome Anomalies
Attention deficit hyperactivity disorder, Short neck, Scoliosis, Kyphosis ORPHA:99413
Turner Syndrome
Attention deficit hyperactivity disorder, Short neck, Scoliosis, Kyphosis ORPHA:881
Mosaic Monosomy X
Attention deficit hyperactivity disorder, Short neck, Scoliosis, Kyphosis ORPHA:99228
Monosomy X
Attention deficit hyperactivity disorder, Short neck, Scoliosis, Kyphosis ORPHA:99226
Coffin-Lowry Syndrome
Scoliosis, Lumbar kyphosis, Kyphosis OMIM:303600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Platyspondyly, Abnormal vertebral morphology, Kyphosis, Abnormality of the vertebral column ORPHA:2273
Somatomammotropinoma
Spinal canal stenosis, Kyphosis ORPHA:314769
Acromegaly
Spinal canal stenosis, Kyphosis ORPHA:963
Sotos Syndrome
Abnormal vertebral morphology, Scoliosis, Kyphosis, Attention deficit hyperactivity disorder, Sac... ORPHA:821
Wrinkly Skin Syndrome
Scoliosis, Kyphosis OMIM:278250
17Q11 Microdeletion Syndrome
Scoliosis, Beaking of vertebral bodies T12-L3, Kyphosis, Abnormality of the vertebral column ORPHA:97685
Viss Syndrome
Butterfly vertebrae, Scoliosis, Dysphagia, Kyphosis OMIM:619472
Proteus Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:744
Branchiooculofacial Syndrome
Short neck, Hyperlordosis, Kyphosis OMIM:113620
Yunis-Varon Syndrome
Kyphosis, Anterior concavity of thoracic vertebrae OMIM:216340
Alström Syndrome
Lumbar scoliosis, Polyphagia, Kyphosis, Thoracic 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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