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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 5.29×10-06
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 Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral 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
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, 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
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility 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
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Nondisjunction
Decreased fertility OMIM:158250
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... 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
Scoliosis, Hyperactivity OMIM:616311
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis 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
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Deleted in azoospermia
Azoospermia OMIM:400003
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Kyphoscoliosis, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Bruxism, Scoliosis, Kyphosis, Hyperactivity OMIM:300434
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hyperactivity ORPHA:85288
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Myasthenic Syndrome, Congenital, 25, Presynaptic
Dysphagia, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Squared-off platyspondyly, Thoracic scoliosis, Intervertebral space narrowing, Bac... OMIM:271530
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Brachyolmia Type 1, Toledo Type
Lumbar hyperlordosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Kyphoscoli... OMIM:271630
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Attention deficit hyperactivity disorder, Kyphosis OMIM:620007
Cdkl5-Deficiency Disorder
Bruxism, Inappropriate laughter, Stereotypical hand wringing, Scoliosis, Kyphosis ORPHA:505652
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity, Kyphoscoliosis OMIM:615541
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... 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
Self-injurious behavior, Hyperactivity, 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, Aggressive behavior, Kyphosis OMIM:618512
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Winchester Syndrome
Kyphosis OMIM:277950
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Lumbar hyperlordosis, Aggressive behavior, Hyperactivity, Compulsive beh... OMIM:619467
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Delayed menarche, Azoospermia, Decreased testicular size, Decreased female lib... ORPHA:52901
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Scoliosis, Hyperactivity OMIM:618362
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Ck Syndrome
Aggressive behavior, Hyperlordosis, Hyperactivity, Scoliosis, Kyphosis OMIM:300831
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Decreased testicular size, Abnormal sperm head morphology, 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, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Agitation, Kyphoscoliosis OMIM:618339
Weismann-Netter Syndrome
Horizontal sacrum, Scoliosis, Kyphosis OMIM:112350
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Lopes-Maciel-Rodan Syndrome
Bruxism, Motor stereotypy, Scoliosis, Dysphagia, Kyphosis, Agitation OMIM:617435
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Aggressive behavior, Hyperactivity, Dysphagia, Kyphosis, Impulsivity ORPHA:500180
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:616756
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility 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
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity 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
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi... ORPHA:352490
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Kyphoscoliosis, Short ne... 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
Self-injurious behavior, Aggressive behavior, Scoliosis, Hyperactivity OMIM:620023
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Kyphoscoliosis, Aggressive behavior, Hyperactivity, Anorexia ORPHA:3077
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Scoliosis, Hyperactivity ORPHA:457260
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Self-mutilation, Hyperactivity, Scoliosis, Paroxysmal bursts of laughter, Impulsivity 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
Hyperlordosis, Compulsive behaviors, Scoliosis, Kyphosis, Sacral dimple 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
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Fragile X Syndrome
Recurrent hand flapping, Scoliosis, Hyperactivity, Self-biting OMIM:300624
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Fused cervical vertebrae, Hyperactivity, Scoliosis, Motor stereotypy, T... ORPHA:530983
Atypical Rett Syndrome
Restrictive behavior, Bruxism, Inappropriate laughter, Stereotypical hand wringing, Tongue thrust... ORPHA:3095
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Aggressive behavior, Hyperactivity, Scoliosis, Motor stereotypy ORPHA:391307
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Kyphosis OMIM:230650
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis OMIM:300861
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Scoliosis, Kyphosis ORPHA:178148
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal intervertebral di... 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
Scoliosis, Kyphosis, Hyperactivity OMIM:615834
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Scoliosis, Moto... 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
Scoliosis, Kyphosis, Kyphoscoliosis 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
Hyperlordosis, Vertebral fusion, Scoliosis, Dysphagia, Kyphosis 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
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ... OMIM:156530
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of the cervical spine, Scoliosis, Kyphosis ORPHA:48431
4Q21 Microdeletion Syndrome
Self-injurious behavior, Short neck, Scoliosis, Motor stereotypy, Kyphosis ORPHA:238750
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dysphagia, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity 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, Kyphosis, Vertebral segmentation defect ORPHA:2617
Developmental Malformations-Deafness-Dystonia Syndrome
Dysphagia, Scoliosis, Kyphosis ORPHA:79107
Bruck Syndrome 1
Platyspondyly, Scoliosis, Vertebral wedging, Kyphosis OMIM:259450
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis 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
Skin-picking, Polyphagia, Scoliosis, Kyphosis, Impulsivity OMIM:615547
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity OMIM:615084
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
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
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Aggressive behavior, ... ORPHA:449291
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Dysphagia, Scoliosis, Hyperlordosis OMIM:128100
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis OMIM:151800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:607155
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Kyphosis OMIM:619797
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Hyperactivity, Dysphagia OMIM:252930
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Kyphosis OMIM:614409
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Short neck, Lumbar kyphosis, Hyperlordosis, An... OMIM:253000
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... ORPHA:330015
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Aggressive behavior, Kyphosis, Hyperactivity OMIM:300354
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Myasthenic Syndrome, Congenital, 20, Presynaptic
Dysphagia, Scoliosis, Kyphosis OMIM:617143
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b... OMIM:617061
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis ORPHA:64755
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... 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
Kyphosis, Scoliosis, Hyperlordosis, Kyphoscoliosis 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
Abnormal temper tantrums, Obsessive-compulsive trait, Skin-picking, Attention deficit hyperactivi... 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, Hypoplastic vertebral bodies, Hemivertebrae, Vertebral fus... ORPHA:2916
Rett Syndrome
Bruxism, Scoliosis, Kyphosis, Stereotypical hand wringing OMIM:312750
Alpha-Mannosidosis
Short neck, Scoliosis, Kyphosis ORPHA:61
Mucolipidosis Iii Gamma
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:252605
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Scoliosis, Kyphosis ORPHA:261144
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... OMIM:183900
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Short neck, Kyphosis ORPHA:2983
Diastrophic Dysplasia
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies ORPHA:628
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Short neck, Spina bifida oc... ORPHA:2311
Trisomy 9P
Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Flynn-Aird Syndrome
Scoliosis, Kyphosis ORPHA:2047
Fliedner-Zweier Syndrome
Self-injurious behavior, Aggressive behavior, Scoliosis, Kyphosis OMIM:620511
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Lumbar hyperlordosis, Back pain, Short neck, Cervical instability, Scoliosis, Kyph... ORPHA:94068
Arthrogryposis, Distal, Type 5
Scoliosis, Kyphosis OMIM:108145
Arthrogryposis, Distal, Type 4
Lumbar scoliosis, Scoliosis, Kyphosis OMIM:609128
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:300280
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... ORPHA:2062
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Short neck, Hyperactivity, Scoliosis, Kyphosis ORPHA:254346
Thanatophoric Dysplasia
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:2655
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Compulsive behaviors, Attention deficit hyperactivity disorder, Scoliosis, Kyphosis ORPHA:404440
Pontocerebellar Hypoplasia, Type 17
Dysphagia, Kyphosis OMIM:619909
Typical Nemaline Myopathy
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity ORPHA:171436
Wieacker-Wolff Syndrome, Female-Restricted
Dysphagia, Short neck, Scoliosis, Kyphosis OMIM:301041
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp... OMIM:108300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Kyphoscoliosis, Abnormal curvature of the vertebral column... ORPHA:93360
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Scoliosis, Kyphosis, Sacral dimple OMIM:618291
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavi... ORPHA:476126
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity ORPHA:98863
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis ORPHA:324737
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:582
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity ORPHA:98855
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Wieacker-Wolff Syndrome
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:314580
X-Linked Intellectual Disability Due To Gria3 Mutations
Aggressive behavior, Scoliosis, Kyphosis, Self-mutilation ORPHA:364028
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Spinal canal stenos... ORPHA:15
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Urban-Rogers-Meyer Syndrome
Short neck, Kyphosis ORPHA:3409
Sialidosis Type 1
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Compulsive behaviors, Scoliosis, Kyphosis OMIM:618443
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Agitation OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Agitation OMIM:610475
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Cervical subluxation, Scoliosis... 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
X-Linked Intellectual Disability, Cabezas Type
Aggressive behavior, Short neck, Hyperactivity, Scoliosis, Kyphosis ORPHA:85293
Chromosome Xq26.3 Duplication Syndrome
Polyphagia, Kyphosis OMIM:300942
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis ORPHA:93274
Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity ORPHA:98853
Rett Syndrome, Congenital Variant
Bruxism, Tongue thrusting, Scoliosis, Motor stereotypy, Kyphosis OMIM:613454
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
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Gm1-Gangliosidosis, Type I
Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis, Kyphosis OMIM:230500
Ullrich Congenital Muscular Dystrophy 1A
Scoliosis, Kyphosis, Spinal rigidity OMIM:254090
Desbuquois Dysplasia 1
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:251450
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies OMIM:219090
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Kyphosis, Back pain OMIM:106300
3M Syndrome
Increased vertebral height, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:2616
Pelizaeus-Merzbacher Disease
Scoliosis, Kyphosis ORPHA:702
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Inappropriate laughter, Platyspondyly, Kyphosis OMIM:618476
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Kyphosis, Caudal interpedicular narrowing, Scoliosis, 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
Platyspondyly, Abnormal form of the vertebral bodies, Oral aversion, Hyperlordosis, Dysphagia, Sc... ORPHA:354
Congenital Myopathy 22A, Classic
Spinal rigidity, Scoliosis, Kyphosis, Thoracic scoliosis OMIM:620351
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:2789
Harrod Syndrome
Scoliosis, Kyphosis ORPHA:2115
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Scoliosis, Kyphosis ORPHA:2479
Koolen-De Vries Syndrome
Overfriendliness, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis ORPHA:96169
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis 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
Aggressive behavior, Kyphosis OMIM:619244
Mucopolysaccharidosis Type 6
Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
Microphthalmia, Lenz Type
Kyphosis, Self-injurious behavior, Scoliosis, Hyperlordosis ORPHA:568
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Scoliosis, Kyphosis, Anorexia ORPHA:1969
Intellectual Developmental Disorder, Autosomal Dominant 57
Frequent temper tantrums, Attention deficit hyperactivity disorder, Compulsive behaviors, Scolios... OMIM:618050
Koolen-De Vries Syndrome
Spondylolisthesis, Impulsivity, Hyperactivity, Vertebral fusion, Scoliosis, Kyphosis, Sacral dimple OMIM:610443
Brown-Vialetto-Van Laere Syndrome 1
Dysphagia, Scoliosis, Kyphosis OMIM:211530
Pelger-Huet Anomaly
Kyphosis OMIM:169400
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis OMIM:617190
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... OMIM:223800
Histidinemia
Hyperactivity ORPHA:2157
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:1005
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Short neck, Hemivertebrae, Scoliosis, Kyphosis ORPHA:958
Trisomy 13
Scoliosis, Kyphosis ORPHA:3378
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Agitation OMIM:610489
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Lumba... 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
Self-mutilation, Attention deficit hyperactivity disorder, Scoliosis, Motor stereotypy, Kyphosis OMIM:619005
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis OMIM:616294
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
3C Syndrome
Short neck, Scoliosis, Kyphosis, Hemivertebrae ORPHA:7
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:1860
Hurler-Scheie Syndrome
Scoliosis, Kyphosis OMIM:607015
Marden-Walker Syndrome
Short neck, Scoliosis, Kyphosis OMIM:248700
Spondyloperipheral Dysplasia
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates OMIM:271700
Cockayne Syndrome Type 2
Scoliosis, Kyphosis ORPHA:90322
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Attention deficit hyperactivity disorder, Short neck, Hemivertebrae, Scoliosis, Kyphosis OMIM:618223
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Kyphosis ORPHA:88644
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Oral-pharyngeal dysphagia, Prominent protruding coccyx, Short neck, Prominent coccyx, Attention d... OMIM:300966
Emanuel Syndrome
Scoliosis, Kyphosis, Sacral dimple OMIM:609029
Genitopalatocardiac Syndrome
Scoliosis, Kyphosis ORPHA:2075
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Polyphagia, Skin-picking, Compulsive behaviors, Scoliosis, Kyphosis, Im... ORPHA:398069
Fucosidosis
Anterior beaking of lumbar vertebrae, Kyphosis ORPHA:349
Jaberi-Elahi Syndrome
Scoliosis, Kyphosis OMIM:617988
Intellectual Developmental Disorder, X-Linked 112
Attention deficit hyperactivity disorder, Scoliosis, Kyphosis, Kyphoscoliosis OMIM:301111
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Short neck, ... ORPHA:261318
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Mucolipidosis Iii Alpha/Beta
Spondylolisthesis, Scoliosis, Kyphosis OMIM:252600
Coffin-Lowry Syndrome
Kyphosis, Self-injurious behavior, Scoliosis, Abnormal form of the vertebral bodies ORPHA:192
2P15P16.1 Microdeletion Syndrome
Dysphagia, Attention deficit hyperactivity disorder, Scoliosis, Kyphosis ORPHA:261349
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Short neck, Vertebral fusion, Scoliosis, Kyphosis 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, Hemivertebrae, Scoliosis, Motor stereotypy, Kyphosis OMIM:301040
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord... OMIM:618019
16Q24.3 Microdeletion Syndrome
Dysphagia, Scoliosis, Kyphosis ORPHA:261250
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hyperlordosis, Scoliosis, Kyphosis ORPHA:763
Alexander Disease
Self-injurious behavior, Short neck, Hyperlordosis, Scoliosis, Dysphagia, Kyphosis ORPHA:58
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Lumbar hyperlordosis, Kyphosis OMIM:616482
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Vertebral compre... OMIM:259770
Alkaptonuria
Low back pain, Vertebral fusion, Kyphosis, Intervertebral disk degeneration OMIM:203500
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Cowden Syndrome 5
Scoliosis, Kyphosis OMIM:615108
Monosomy 9Q22.3
Short neck, Abnormality of the vertebral column, Kyphosis, Hyperactivity ORPHA:77301
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Kyphosis OMIM:616449
Campomelic Dysplasia
Short neck, Scoliosis, Kyphosis, Poorly ossified cervical vertebrae 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
Spinal canal stenosis, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis, Fuse... ORPHA:1724
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Scoliosis, Kyphosis OMIM:619718
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Cowden Syndrome 6
Scoliosis, Kyphosis OMIM:615109
Hurler Syndrome
Hypoplasia of the odontoid process, Biconcave vertebral bodies, Short neck, C1-C2 subluxation, Ky... OMIM:607014
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Kyphosis, Sacral dimple OMIM:620185
Intellectual Developmental Disorder, Autosomal Dominant 73
Lumbar hyperlordosis, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Thoracolumba... 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
Self-injurious behavior, Polyphagia, Attention deficit hyperactivity disorder, Scoliosis, Kyphosis OMIM:176270
Noonan Syndrome 14
Short neck, Kyphosis OMIM:619745
Mgat2-Cdg
Scoliosis, Kyphosis, Stereotypical hand wringing ORPHA:79329
Schwartz-Jampel Syndrome
Platyspondyly, Abnormally straight spine, Short neck, Attention deficit hyperactivity disorder, H... ORPHA:800
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of the cervical spine, Attention deficit hyperactivity disorder, Motor stereotypy, Sc... ORPHA:464311
Basel-Vanagaite-Smirin-Yosef Syndrome
Aggressive behavior, Scoliosis, Kyphosis ORPHA:464738
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua... OMIM:137920
Weaver Syndrome
Polyphagia, Scoliosis, Kyphosis OMIM:277590
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Scoliosis, Hyperlordosis OMIM:162300
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Dysphagia, Scoliosis, Kyphosis OMIM:619482
Mend Syndrome
Aggressive behavior, Kyphosis, Sacral dimple, Hyperactivity ORPHA:401973
Cowden Syndrome 1
Scoliosis, Kyphosis OMIM:158350
Dyrk1A-Related Intellectual Disability Syndrome
Abnormality of the cervical spine, Motor stereotypy, Hyperactivity, Scoliosis, Kyphosis ORPHA:464306
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Violent behavior, Bruxism, Back pain, Aggressive behavior, Motor stereotypy... OMIM:619475
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Kyphosis OMIM:617527
2Q31.1 Microdeletion Syndrome
Short neck, Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:251014
Carney Complex
Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Abnorm... ORPHA:1359
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Impaired oropharyngeal swallow response ORPHA:521426
Cardiofacioneurodevelopmental Syndrome
Kyphosis OMIM:619123
Multiple Pterygium Syndrome, Escobar Variant
Anterior clefting of vertebral bodies, Short neck, Thoracolumbar scoliosis, Scoliosis, Kyphosis, ... OMIM:265000
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dysphagia, Kyphosis OMIM:619708
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:182210
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, 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
Scoliosis, Kyphosis, Anorexia ORPHA:394
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Kyphosis, Sacral dimple, Kyphoscoliosis ORPHA:536532
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Thoracic scoliosis, Kyphoscoliosis,... 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, Kyphosis, Sacral dimple OMIM:616894
Mend Syndrome
Kyphosis, Sacral dimple, Hyperactivity OMIM:300960
Marden-Walker Syndrome
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis, 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, Posterior scalloping of vertebral bodies, Scoliosis, Kypho... ORPHA:3042
Koolen-De Vries Syndrome Due To A Point Mutation
Cervical spinal canal stenosis, Inappropriate laughter, Spondylolisthesis, Overfriendliness, Atte... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cervical spinal canal stenosis, Inappropriate laughter, Spondylolisthesis, Overfriendliness, Atte... ORPHA:363958
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Aggressive behavior, Scoliosis, Kyphosis, Impulsivity OMIM:300967