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Gene: Vcpip1 MGI:1917925

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
valosin containing protein (p97)/p47 complex interacting protein 1
Synonyms:
5730421J18Rik,  Vcip135,  5730538E15Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Vcpip1 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 Vcpip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Xeroderma Pigmentosum, Complementation Group G
Cataract, Small for gestational age, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Spinal rigidity, Hyperlordosis, Kyphosis, Increased adipose tissue, Scoliosis OMIM:617404
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Scoliosis, Hyperlordosis ORPHA:2310
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis OMIM:300718
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Neck joint contracture, Achilles ... OMIM:255600
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Lumbar hyperlordosis, Knee flexion contracture, Congenital foot contractures, Sc... OMIM:602484
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Reduced subcutaneous adipose tissue, Increased susceptibility to spontaneous sister chromatid exc... OMIM:618097
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... OMIM:600561
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... OMIM:609223
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Slender build, Hyperlordosis ORPHA:352470
Xeroderma Pigmentosum, Complementation Group F
Flexion contracture, Defective DNA repair after ultraviolet radiation damage, Astigmatism, Scolio... OMIM:278760
Rigid Spine Syndrome
Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Hamstring contracture... ORPHA:97244
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Cataract, Small for gestational age ORPHA:85288
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Cataract, Small for gestational age, Kyphosis, Decreased body weight OMIM:618392
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Scoliosis OMIM:619042
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Flexion contracture, Congenital foot contraction deformities, Hyperlordosis ORPHA:363454
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Scoliosis, Hyperlordosis OMIM:611067
Congenital Myopathy 16
Lumbar hyperlordosis, Flexion contracture, Scoliosis, Spinal rigidity OMIM:618524
Isolated Glycerol Kinase Deficiency
Cryptorchidism, Scoliosis, Hyperlordosis ORPHA:408
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Ankle flexion contracture ORPHA:280333
Mucolipidosis Type Iii
Inguinal hernia, Corneal opacity, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:577
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hyperlordosis, Cryptorchidism, Kyphosis, Obesity, Keloids, Decreased testicular size ORPHA:3085
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Joint contracture, Scoliosis OMIM:611225
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis OMIM:616756
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Nemaline Myopathy 5C, Autosomal Dominant
Achilles tendon contracture, Slender build, Scoliosis, Hyperlordosis OMIM:620389
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... OMIM:615290
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Flexion contracture, Cachexia, Hyperlordosis ORPHA:157973
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Spinal rigidity, Hyperlordosis, Flexion contracture, Elbow flexion con... ORPHA:267
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Achilles tendon contracture, Hyperlordosis ORPHA:62
N Syndrome
Cryptorchidism, Abnormality of chromosome stability OMIM:310465
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Obesity, Irregular vertebral end... OMIM:618363
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis... ORPHA:536516
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Congenital Myopathy 2A, Typical, Autosomal Dominant
Spinal rigidity, Hyperlordosis, Scoliosis, Arthrogryposis multiplex congenita, Slender build OMIM:161800
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Anauxetic Dysplasia 2
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... OMIM:617396
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... OMIM:264180
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis OMIM:617054
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture OMIM:610687
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Opacification of the corneal stroma, Scoliosis OMIM:252605
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Elbow flexion contracture, Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis ORPHA:206546
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism, S... OMIM:300624
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Astigmatism, Scoliosis OMIM:615761
Winchester Syndrome
Kyphosis, Corneal opacity OMIM:277950
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Flexion contracture, Spinal rigidity OMIM:609308
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Kahrizi Syndrome
Cataract, Elbow contracture, Knee flexion contracture, Thoracic kyphosis, Iris coloboma OMIM:612713
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Bethlem Myopathy 2
Kyphosis, Atrophic scars, Flexion contracture, Scoliosis OMIM:616471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Flexion contracture OMIM:613723
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Flexion contracture, Scoliosis, Spinal rigidity OMIM:618323
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, Cataract, Scoliosis, Hyperlordosis ORPHA:1387
Mulchandani-Bhoj-Conlin Syndrome
Failure to thrive, Scoliosis, Hyperlordosis OMIM:617352
Hypochondroplasia
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:429
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Ankle flexion contracture OMIM:613818
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Chromosomal breakage induced by crosslinking agents, Decreased body weight OMIM:619060
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Cataract, Decreased testicular size ORPHA:1875
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Ck Syndrome
Lumbar hyperlordosis, Slender build, Kyphoscoliosis ORPHA:251383
Nemaline Myopathy 2
Spinal rigidity, Hyperlordosis, Flexion contracture, Congenital contracture, Scoliosis, Arthrogry... OMIM:256030
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Increased connective tissue, Scoliosis, Hyperlordosis OMIM:616852
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... ORPHA:99642
Xfe Progeroid Syndrome
Cachexia, Absence of subcutaneous fat, Defective DNA repair after ultraviolet radiation damage, C... OMIM:610965
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Thora... OMIM:619542
Fanconi Anemia, Complementation Group D1
Failure to thrive, Chromosomal breakage induced by crosslinking agents OMIM:605724
Immunodeficiency 54
Chromosome breakage, Failure to thrive OMIM:609981
Myopathy, Centronuclear, 2
Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis OMIM:255200
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Hyperlordosis OMIM:162370
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... OMIM:256050
Ataxia-Telangiectasia
Failure to thrive, Abnormality of chromosome stability, Abnormal testis morphology ORPHA:100
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosi... ORPHA:3041
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Ankle flexion contracture, Scoliosis, Hyperlordosis OMIM:617760
Acrocapitofemoral Dysplasia
Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... ORPHA:1797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Cataract, Cervical kyphosis, Kyphoscolios... OMIM:255800
Congenital Myopathy 4A, Autosomal Dominant
Failure to thrive, Lumbar hyperlordosis, Limb joint contracture, Scoliosis OMIM:255310
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... ORPHA:98855
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Scoliosis, Hyperlordosis OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis OMIM:618129
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, Hyperlordosis OMIM:615156
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Achilles tendon c... ORPHA:98863
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral hei... OMIM:616817
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive OMIM:620007
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Myopathy, Distal, 1
Lumbar hyperlordosis, Scoliosis OMIM:160500
Mucopolysaccharidosis, Type Iva
Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid pr... OMIM:253000
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Sandhoff Disease
Kyphosis, Failure to thrive ORPHA:796
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Inguinal hernia, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-... OMIM:184250
Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... ORPHA:98853
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Myopathy, Centronuclear, 1
Flexion contracture, Hyperlordosis OMIM:160150
Three M Syndrome 3
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Decreased body ... OMIM:614205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Flexion contracture, Scoliosis, Hyperlordosis OMIM:613156
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Oculoskeletodental Syndrome
Hyperlordosis, Developmental cataract, Thoracic kyphosis, Scoliosis, Enamel hypoplasia ORPHA:557003
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cryptorchidism, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal... OMIM:301900
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lumbar hyperlordosis, Lipodystrophy OMIM:615980
Mucopolysaccharidosis Type 4
Corneal opacity, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish ... ORPHA:582
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Flexion contracture, Scolios... OMIM:618484
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Opacification of the co... OMIM:230650
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Hyperlordosis ORPHA:1192
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Shagreen patch, Scoliosis, Hyperlordosis ORPHA:2511
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Camptodactyly of finger, Kyphosis, Microcornea, Scoliosis, Abnormality of the cervical ... ORPHA:48431
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... ORPHA:1159
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Fetal Akinesia Deformation Sequence 4
Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Flexion contracture OMIM:618237
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Cutis Laxa, Autosomal Recessive, Type Iie
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:619451
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Kyphosis, Abnormal fo... ORPHA:2635
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae, Astigmatism, Decreased body weight, Chromosomal breakage in... OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia ORPHA:3218
Fanconi Anemia, Complementation Group S
Chromosome breakage, Failure to thrive OMIM:617883
Fanconi Anemia, Complementation Group O
Cryptorchidism, Chromosome breakage OMIM:613390
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Camptodactyly of finge... OMIM:114300
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Enamel hypoplasia, Failure to ... OMIM:234250
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive ORPHA:319199
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Thoracomelic Dysplasia
Hyperlordosis, Short neck ORPHA:1803
Baralle-Macken Syndrome
Kyphosis, Cataract, Obesity OMIM:619255
Mucopolysaccharidosis, Type Ivb
Inguinal hernia, Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplas... OMIM:253010
Wieacker-Wolff Syndrome
Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Scoliosis, Camptodactyly, Arth... OMIM:314580
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Hypomelanosis Of Ito
Kyphosis, Cataract, Iris coloboma, Scoliosis OMIM:300337
Intellectual Disability And Myopathy Syndrome
Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis OMIM:619719
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Defective DNA repair after ultraviolet radiation damage, Keratoconjunctiviti... OMIM:278730
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Scoliosis ORPHA:2429
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cataract, Abnormality of the vertebral column, Hyperlordosis ORPHA:52430
Three M Syndrome 1
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida oc... OMIM:273750
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Lumbar hyperlordosis OMIM:167320
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Flexion contracture, Hyperlordosis OMIM:611588
Wagr Syndrome
Cataract, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the iris, Scoliosis ORPHA:893
Gm1 Gangliosidosis
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Hyperlordosis, Kyphosis, Patent ductus... ORPHA:354
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis, Arthrogrypo... ORPHA:171436
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Developmental glaucoma, Obesity, Platyspondyly, Scoliosis OMIM:251450
Myopathy, Myofibrillar, 7
Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion contracture, Spinal rigidity,... OMIM:617114
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Small for gestational age, Kyphosis, Cryptorchidism, Congenital contracture, Joi... ORPHA:352490
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Spina bifida occulta, Iris ... OMIM:169550
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis OMIM:613157
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents, Scoliosis OMIM:617244
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overwe... OMIM:617796
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thoracic kyphoscoliosis, Cataract, Spinal canal stenosis, Developmental cataract, Scoliosis, Cerv... ORPHA:436174
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... ORPHA:750
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... ORPHA:93284
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly OMIM:313420
Facioscapulohumeral Dystrophy
Hyperlordosis ORPHA:269
Lateral Meningocele Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the verteb... ORPHA:2789
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Microphthalmia, Lenz Type
Cataract, Camptodactyly of finger, Hyperlordosis, Cryptorchidism, Kyphosis, Microcornea, Scoliosi... ORPHA:568
Bruck Syndrome 1
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... OMIM:259450
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Abnormality of chromosome stability, Abnormal vertebral morphology, Sho... OMIM:300514
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Zimmermann-Laband Syndrome 3
Kyphosis, Patent ductus arteriosus, Flexion contracture OMIM:618658
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... OMIM:609616
Jansen-De Vries Syndrome
Central diaphragmatic hernia, Hyperlordosis OMIM:617450
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... ORPHA:178148
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Flexion contracture, Scoliosis, Hyperlordosis OMIM:253700
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis OMIM:128100
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis OMIM:146000
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Scoliosis OMIM:618234
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... ORPHA:93314
Fanconi Anemia, Complementation Group C
Small for gestational age, Cryptorchidism, Flexion contracture, Anterior wedging of T12, Deficien... OMIM:227645
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Myopic astigmatism, Obesity, Scoliosis OMIM:618443
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Flexion contracture, Scoliosis, Knee flexion contracture ORPHA:353327
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis, Congenital foot contractures ORPHA:3454
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoliosis, Shagreen patch ORPHA:2617
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Scoliosis, Spinal rigidity ORPHA:86812
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis ORPHA:353
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Cryptorchidism, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:611890
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Scoliosis ORPHA:1548
Amyotrophic Lateral Sclerosis 27, Juvenile
Scoliosis, Hyperlordosis OMIM:620285
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres... ORPHA:93352
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Small for gestational age, Kyphosis, Scoliosis, Umbilical hernia, Arthrogryposis... OMIM:615834
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:1323
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Patent ductus arteriosus, Cryptorchidism, Astigmatism, Scoliosis OMIM:619797
Steel Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:615155
Xeroderma Pigmentosum, Complementation Group E
Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage OMIM:278740
Three M Syndrome 2
Hyperlordosis, Lumbar hyperlordosis, Small for gestational age, Short neck OMIM:612921
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract, Hyperlordosis ORPHA:369840
Trichothiodystrophy
Multiple joint contractures, Cryptorchidism, Absence of subcutaneous fat, Defective DNA repair af... ORPHA:33364
Sjögren-Larsson Syndrome
Kyphosis, Corneal erosion, Abnormal dental enamel morphology, Scoliosis ORPHA:816
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Hyperlordosis, Patent ductus arteriosus, Coronal cleft vertebrae, Scoliosis, Butterfly vertebrae OMIM:618870
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Lumbar hyperlordosis, Posterior subcapsular cataract, Bilateral camptodactyly, Lumbar ... OMIM:619234
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis OMIM:617821
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Developmental cataract OMIM:610756
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Cryptorchidism OMIM:618512
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Congenital Myopathy 10B, Mild Variant
Achilles tendon contracture, Elbow contracture, Scoliosis, Hyperlordosis OMIM:620249
Smith-Mccort Dysplasia 2
Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Decreased body weight OMIM:615222
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Short neck OMIM:610832
Bone Marrow Failure Syndrome 3
Chromosome breakage, Cryptorchidism, Astigmatism, Hernia, Enamel hypoplasia, Failure to thrive, A... OMIM:617052
Sialidosis Type 2
Inguinal hernia, Corneal opacity, Kyphosis, Flexion contracture, Umbilical hernia ORPHA:87876
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Lumbar hyperlordosis ORPHA:435387
Muscular Dystrophy, Duchenne Type
Hyperlordosis, Achilles tendon contracture, Flexion contracture, Knee flexion contracture, Hamstr... OMIM:310200
Congenital Muscular Dystrophy, Ullrich Type
Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Elbow flexion contracture, Knee flexi... ORPHA:75840
Mcdonough Syndrome
Kyphosis, Cachexia, Scoliosis, Cryptorchidism ORPHA:2471
3Mc Syndrome
Hyperlordosis, Bilateral cryptorchidism, Abnormal anterior chamber morphology, Prominent coccyx, ... ORPHA:293843
Flynn-Aird Syndrome
Kyphosis, Cachexia, Cataract, Scoliosis ORPHA:2047
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Bethlem Myopathy
Multiple joint contractures, Lumbar hyperlordosis, Interphalangeal joint contracture of finger, A... ORPHA:610
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Abnormal vertebral m... ORPHA:174
Alpha-Mannosidosis
Inguinal hernia, Cataract, Corneal opacity, Short neck, Kyphosis, Scoliosis ORPHA:61
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Cataract, Short neck, Coronal cleft vertebra... ORPHA:1427
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Umbilical hernia OMIM:618272
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of toe, Nuclear cataract, Lumbar hyperlordosis, Camptodactyly of finger ORPHA:2848
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro... OMIM:602557
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Scoliosis, Hyperlordosis OMIM:300986
Joubert Syndrome 37
Cryptorchidism, Lumbar hyperlordosis, Decreased testicular size, Obesity OMIM:619185
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cataract, Hyperlordosis, Hypoplasia of the odontoid process, Flexion contracture, Spinal canal st... OMIM:616007
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, Bilateral cr... OMIM:242900
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Obesity, Scoliosis OMIM:618124
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
3M Syndrome
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increased vertebral height, Kyphosi... ORPHA:2616
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis OMIM:156500
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:85327
Braddock-Carey Syndrome 1
Enamel hypoplasia, Camptodactyly, Hyperlordosis OMIM:619980
Fanconi Anemia, Complementation Group F
Sacral dimple, Cryptorchidism, Patent ductus arteriosus, Failure to thrive, Chromosomal breakage ... OMIM:603467
Xeroderma Pigmentosum, Complementation Group C
Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage OMIM:278720
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Hyperlordosis OMIM:600462
Schwartz-Jampel Syndrome
Short neck, Microcornea, Wrist flexion contracture, Abnormally ossified vertebrae, Hyperlordosis,... ORPHA:800
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Abnormality of chromosom... ORPHA:175
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Cataract, Scoliosis OMIM:614409
Fucosidosis
Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Anterior beaking of thoraci... OMIM:230000
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Cataract, Ectopia lentis, Patent ductus arteriosus, Microspherophakia, Spin... OMIM:277600
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Small for gestational ... OMIM:600901
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Lumbar hyperlordosis, Abnormality iris morphology, Cataract ORPHA:370959
Myotonia Permanens
Hyperlordosis ORPHA:99735
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Atrophic scars, Sc... OMIM:130060
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Marinesco-Sjogren Syndrome
Kyphosis, Flexion contracture, Developmental cataract, Scoliosis, Failure to thrive OMIM:248800
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Spinal rigidity, Hyperlordosis, Flexion contracture, Scoliosis, Failure to thrive OMIM:613327
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... OMIM:156530
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Frontorhiny
Pericallosal lipoma, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Scoliosis, Iris col... ORPHA:391474
Weill-Marchesani Syndrome 2
Iridodonesis, Lumbar hyperlordosis, Cataract, Lens luxation, Ectopia lentis, Patent ductus arteri... OMIM:608328
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Small for gestational ... OMIM:227650
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Hyperlordosis ORPHA:169186
Cohen Syndrome
Small for gestational age, Thoracic scoliosis, Lumbar hyperlordosis, Childhood-onset truncal obesity OMIM:216550
Mucopolysaccharidosis, Type X
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver... OMIM:619698
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Scoliosis ORPHA:1798
Anauxetic Dysplasia 1
Hip contracture, Lumbar hyperlordosis, Short neck, Elbow flexion contracture, Platyspondyly, Cerv... OMIM:607095
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Arthrogryposis, Distal, Type 5D
Hyperlordosis, Short neck, Elbow flexion contracture, Scoliosis, Camptodactyly OMIM:615065
Arthrogryposis, Distal, Type 5
Keratoconus, Kyphosis, Keratoglobus, Astigmatism, Distal arthrogryposis, Scoliosis, Congenital fi... OMIM:108145
Icf Syndrome
Umbilical hernia, Abnormality of chromosome stability ORPHA:2268
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation, Scoliosis ORPHA:171844
Osteopathia Striata-Cranial Sclerosis Syndrome
Cataract, Spina bifida occulta, Scoliosis, Hyperlordosis ORPHA:2780
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion... OMIM:619040
Xeroderma Pigmentosum, Complementation Group A
Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage OMIM:278700
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Pterygium ORPHA:2771
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Cataract, Lipodystrophy, Posterior subcapsular cataract, Elbow flexion c... OMIM:616200
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis OMIM:259440
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Pycnodysostosis
Hyperlordosis, Overweight, Kyphosis, Spondylolysis, Scoliosis, Enamel hypoplasia, Spondylolisthesis ORPHA:763
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Inguinal hernia, Cataract, Block vertebrae, Hyperlordosis, Short neck, Hypoplas... OMIM:272460
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Sialidosis Type 1
Cataract, Corneal opacity, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hernia ORPHA:812
Lig4 Syndrome
Cryptorchidism, Abnormality of chromosome stability ORPHA:99812
Nail-Patella Syndrome
Back pain, Keratoconus, Lumbar hyperlordosis, Cataract, Antecubital pterygium, Microcornea, Scoli... OMIM:161200
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Cryptorchidi... OMIM:210900
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:3191
Schaaf-Yang Syndrome
Failure to thrive in infancy, Kyphosis, Cryptorchidism, Flexion contracture, Obesity, Scoliosis, ... OMIM:615547
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Umbilical hernia, Scoliosis ORPHA:2181
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Obesity, Scoliosis OMIM:300602
Harrod Syndrome
Cataract, Kyphosis, Cryptorchidism, Scoliosis, Failure to thrive ORPHA:2115
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Lumbar hyperlordosis, Small for gestational age, Short neck, Cryptorchidism, Patent ... OMIM:609625
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Small for gestational age, Short n... ORPHA:1830
Dystonia-Deafness Syndrome 1
Cataract, Small for gestational age, Kyphoscoliosis OMIM:607371
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Opacification of the corneal stroma, Hernia, Failur... ORPHA:583
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Trichorhinophalangeal Syndrome Type 1
Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:77258
Martsolf Syndrome 1
Thoracic scoliosis, Cataract, Lumbar hyperlordosis, Inguinal hernia, Cryptorchidism, Developmenta... OMIM:212720
Ruvalcaba Syndrome
Kyphosis, Inguinal hernia, Scoliosis, Cryptorchidism OMIM:180870
Fanconi Anemia, Complementation Group L
Chromosome breakage, Hypoplastic sacrum, Chromosomal breakage induced by crosslinking agents, Sho... OMIM:614083
Pfeiffer Syndrome
Hyperlordosis, Short neck ORPHA:710
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Flexion contracture, Coronal cleft vertebrae, Platyspondyly, Beaking of ver... OMIM:215150
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Lipoatrophy, Scoliosis ORPHA:64755
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Kyphosis, Cryptorchidism, Scoliosis,... OMIM:615381
Revesz Syndrome
Abnormality of chromosome stability, Leukocoria, Megalocornea OMIM:268130
15Q24 Microdeletion Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Obesity, Sc... ORPHA:94065
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Camptodactyly of finger, Prominent protruding coccyx, Abnormal form of the ... ORPHA:2839
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Scoliosis OMIM:601152
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of verte... ORPHA:137834
Fucosidosis
Corneal opacity, Lipoatrophy, Kyphosis, Anterior beaking of lumbar vertebrae, Failure to thrive ORPHA:349
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Paten... ORPHA:457395
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Cataract, Scoliosis ORPHA:79107
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Failure to thrive in infancy, Increased vertebral ... OMIM:613385
Fanconi Anemia, Complementation Group D2
Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Deficient excision of UV-ind... OMIM:227646
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital dia... ORPHA:2311
Trisomy 13
Cataract, Kyphosis, Cryptorchidism, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Sco... ORPHA:3378
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Obesity, Flexion contracture of toe ORPHA:3409
Fanconi Anemia
Abnormality of chromosome stability, Cataract, Cryptorchidism, Patent ductus arteriosus, Weight l... ORPHA:84
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis ORPHA:3068
Nail-Patella Syndrome
Back pain, Lester's sign, Lumbar hyperlordosis, Contracture of the distal interphalangeal joint o... ORPHA:2614
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Posterior subcapsular cataract, Platyspondyly, Thoracic kyp... OMIM:271510
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elbow flexion contracture OMIM:618138
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Crisponi Syndrome
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis ORPHA:1545
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Obesity, Scoliosis ORPHA:464282
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Failure to thrive, Slender build OMIM:254090
Acromesomelic Dysplasia 1
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... OMIM:602875
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis ORPHA:171881
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Hyperlordosis, Cryptorchidism, Obesity, Astigmatism OMIM:616078
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radia... OMIM:278800
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis ORPHA:1883
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Distal Deletion 10Q
Failure to thrive, Lumbar hyperlordosis, Patent ductus arteriosus, Astigmatism, Spina bifida occulta ORPHA:96148
Pure Mitochondrial Myopathy
Lumbar hyperlordosis, Scoliosis ORPHA:254854
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Decreased mitochondrial number, Spinal rigidity ORPHA:352447
Hallermann-Streiff Syndrome
Cataract, Small for gestational age, Hyperlordosis, Cryptorchidism, Scoliosis, Iris coloboma OMIM:234100
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Failure to thrive in infancy, Scoliosis, Hyperlordosis OMIM:162300
Cockayne Syndrome Type 2
Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Developmental cataract, Conjunctivitis, ... ORPHA:90322
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Anterior polar cataract, Lumbar hyperlordosis, Obesity, Scoliosis OMIM:250420
Stiff Person Spectrum Disorder
Lumbar hyperlordosis ORPHA:3198
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Flexion contracture of finger, Kyphoscoliosis, Hyperlordosis, Ankle flexion cont... ORPHA:2020
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Hyperlordosis ORPHA:26791
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis OMIM:226980
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Emanuel Syndrome
Sacral dimple, Inguinal hernia, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Patent... OMIM:609029
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, Joint contracture, Lumbar hyperlordosis OMIM:602471
Fanconi Anemia, Complementation Group P
Cryptorchidism, Chromosomal breakage induced by crosslinking agents OMIM:613951
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Cataract ORPHA:324737
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
Satoyoshi Syndrome
Hyperlordosis ORPHA:3130
Alexander Disease
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Failure to thrive ORPHA:58
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scolios... ORPHA:628
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Kyphosis, Scoliosis, Camptodactyly, Camptodactyly of toe, Joint contracture of th... OMIM:300280
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Marfanoid Habitus With Situs Inversus
Kyphosis, Lens subluxation, Scoliosis OMIM:609008
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Abnormal pupil morphology, Scoliosis ORPHA:236
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Decreased testicular size, Cryptorchidism OMIM:615433
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Stickler Syndrome, Type I
Cataract, Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Sp... OMIM:108300
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Increased connective tissue, Hyperlordosis, Flexion contracture, Scoliosis, Decreased body weight ORPHA:258
Arthrogryposis, Distal, Type 4
Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Scoliosis, C... OMIM:609128
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Mucopolysaccharidosis, Type Vi
Inguinal hernia, Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, A... OMIM:253200
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Kyphosis, Hemivertebrae, Abn... ORPHA:2916
Distal Triplication 15Q
Corneal dystrophy, Large for gestational age, Kyphosis, Patent ductus arteriosus, Flexion contrac... ORPHA:314588
Hurler-Scheie Syndrome
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Kyphosis, Contracture of the distal in... OMIM:607015
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypo... OMIM:618291
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur... ORPHA:93360
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Hyperlordosis OMIM:190350
Pelizaeus-Merzbacher Disease
Kyphosis, Cachexia, Failure to thrive in infancy, Scoliosis ORPHA:702
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Failure to thrive, Short neck OMIM:608776
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Umbilical hernia... OMIM:619636
Ring Chromosome 12 Syndrome
Cryptorchidism, Lumbar hyperlordosis, Small for gestational age ORPHA:1439
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cataract, Scoliosis, Hyperlordosis OMIM:615356
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Thanatophoric Dysplasia
Patent ductus arteriosus, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Saethre-Chotzen Syndrome
Cryptorchidism, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:794
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger ORPHA:88628
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Abdominal obesity, Decreased testicular size, Cryptorchidism OMIM:300354
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental enamel morphology, Hyperlordosis ORPHA:3253
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Cachexia, Short neck ORPHA:647
Desbuquois Dysplasia 2
Truncal obesity, Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:615777
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis OMIM:616482
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Pelger-Huet Anomaly
Kyphosis, Failure to thrive, Umbilical hernia OMIM:169400
Camurati-Engelmann Disease
Cachexia, Hyperlordosis, Kyphosis, Abnormal subcutaneous fat tissue distribution, Abnormality of ... ORPHA:1328
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Megalocornea, Abnormal an... ORPHA:2479
Jaberi-Elahi Syndrome
Kyphosis, Failure to thrive, Cataract, Scoliosis OMIM:617988
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Flexion contracture, Scoliosis OMIM:609541
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat... OMIM:607944
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Kyphosis, Hernia of the abdominal wall, Short neck ORPHA:3082
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Large for gestational age, Scoliosis, Hyperlordosis OMIM:617011
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Cowden Syndrome 5
Cataract, Kyphosis, Hydrocele testis, Scoliosis, Subcutaneous lipoma OMIM:615108
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Patent ductus arteriosus, Flexion contracture, Lumbar kyphosis,... ORPHA:505248
Ruvalcaba Syndrome
Inguinal hernia, Kyphosis, Cryptorchidism, Scoliosis, Abnormal vertebral epiphysis morphology ORPHA:3121
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Small for gestational age, Testicular neoplasm, Hyperlordosis, Kyphosis, Cryptorch... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Small for gestational age, Testicular neoplasm, Hyperlordosis, Kyphosis, Cryptorch... ORPHA:363958
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Achondroplasia
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... OMIM:100800
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Umbilical hernia, Myopic astigmatism, Obesity, Hyperlordosis OMIM:301066
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Kyphosis, Platyspondyly ORPHA:93274
Stiff-Person Syndrome
Lumbar hyperlordosis OMIM:184850
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... ORPHA:573278
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Short neck, Kyphosis, Achilles tendon contracture, Flexion contracture, Scoliosis OMIM:301041
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Cataract, Iris hypopigmentation, Small for gestational age, Kyph... OMIM:610443
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Cowden Syndrome 6
Cataract, Kyphosis, Hydrocele testis, Scoliosis, Subcutaneous lipoma OMIM:615109
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Cartilage-Hair Hypoplasia
Hypoplasia of the odontoid process, Lumbar hyperlordosis, Narrow vertebral interpedicular distanc... OMIM:250250
Riddle Syndrome
Conjunctival telangiectasia, Chromosomal breakage induced by ionizing radiation, Weight loss ORPHA:420741
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Obesity ORPHA:261222
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Obesity, Scoliosis, Dec... ORPHA:85293
Opitz-Kaveggia Syndrome
Sacral dimple, Multiple joint contractures, Lumbar hyperlordosis, Inguinal hernia, Short neck, Cr... OMIM:305450
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Ectopia lentis, Kyphosis, Absence of subcutaneo... OMIM:616914
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Astigmatism, Scoliosis OMIM:618493
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Hypoplasia of the odon... OMIM:253220
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cryptorchidism, Lumbar hyperlordosis, Decreased testicular size, Short neck ORPHA:251028
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
19P13.12 Microdeletion Syndrome
Short neck, Cryptorchidism, Kyphosis, Obesity, Scoliosis, Arthrogryposis multiplex congenita ORPHA:254346
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Umbilical hernia, Hyperlordosis ORPHA:221139
15Q14 Microdeletion Syndrome
Kyphosis, Inguinal hernia, Scoliosis ORPHA:261190
Trichodermodysplasia-Dental Alterations Syndrome
Scoliosis, Hyperlordosis ORPHA:3353
Marden-Walker Syndrome
Inguinal hernia, Short neck, Cryptorchidism, Kyphosis, Congenital contracture, Scoliosis, Camptod... OMIM:248700
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Cataract, Kyphosis, Microcornea, Scoliosis OMIM:616449
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis OMIM:617143
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Spinal rigidity, Hyperlordosis ORPHA:268
Micro Syndrome
Cataract, Kyphosis, Cryptorchidism, Microcornea, Scoliosis ORPHA:2510
Lateral Meningocele Syndrome
Vertebral fusion, Inguinal hernia, Short neck, Kyphosis, Cryptorchidism, Patent ductus arteriosus... OMIM:130720
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Dentinogenesis imperfecta, Scoliosis OMIM:259420
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Slender build, Scoliosis, Cryptorchidism ORPHA:364028
Helsmoortel-Van Der Aa Syndrome
Hyperlordosis, Cryptorchidism, Obesity, Truncal obesity, Astigmatism, Scoliosis, Failure to thrive OMIM:615873
Hurler Syndrome
Inguinal hernia, Corneal opacity, Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexi... OMIM:607014
Koolen-De Vries Syndrome
Vertebral fusion, Cataract, Abnormal dental enamel morphology, Kyphosis, Cryptorchidism, Vertebra... ORPHA:96169
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Sacral dimple, Short neck, Hyperlordosis, Scoliosis, Macroor... OMIM:619950
Gm1-Gangliosidosis, Type I
Inguinal hernia, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of verteb... OMIM:230500
Cono-Spondylar Dysplasia
Kyphosis, Failure to thrive, Scoliosis, Short neck ORPHA:420794
3C Syndrome
Inguinal hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Iris coloboma ORPHA:7
Rett Syndrome
Kyphosis, Cachexia, Scoliosis OMIM:312750
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, Scol... OMIM:620351
Trisomy 20P
Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... ORPHA:261318
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral b... OMIM:259770
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Prominent corneal nerve fibers, Kyphoscoliosis, Hyperlordosis ORPHA:653
Distal 22Q11.2 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Hyperlordosis ORPHA:261330
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Knee flexion contracture OMIM:603387
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Patent ductus arteriosus, Scoliosis OMIM:617190
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Flexion contracture, Scoliosis, Hyperlordosis ORPHA:365
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Patent ductus arteriosus OMIM:619909
Cowden Syndrome 1
Cataract, Kyphosis, Hydrocele testis, Scoliosis, Subcutaneous lipoma OMIM:158350
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Lymphedema-Distichiasis Syndrome
Kyphosis, Patent ductus arteriosus, Conjunctivitis, Recurrent corneal erosions, Cellulitis, Corne... OMIM:153400
Sponastrime Dysplasia
Lumbar hyperlordosis, Cataract, Small for gestational age, Kyphoscoliosis, Hyperconvex vertebral ... ORPHA:93357
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... OMIM:143095
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Scoliosis, Camptodactyly, Failure to t... OMIM:617602
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Failure to thrive ORPHA:500055
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture OMIM:219090
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Slender build ORPHA:457359
Williams Syndrome
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Megalocornea, Spina bifida ... ORPHA:904
Holt-Oram Syndrome
Kyphosis, Patent ductus arteriosus, Scoliosis ORPHA:392
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Corneal opacity, Small for gestational age, Ankle flexion contract... ORPHA:464311
Genitopalatocardiac Syndrome
Kyphosis, Congenital diaphragmatic hernia, Scoliosis, Cryptorchidism ORPHA:2075
Meningioma
Back pain, Chromosomal breakage induced by ionizing radiation, Obesity ORPHA:2495
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Patent ductus arteriosus, Scoliosis OMIM:617061
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Thoracic scoliosis, Sacral dimple, Widened atrophic scar, Inguinal hernia, Kyphos... ORPHA:536532
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Lumbar hyperlordosis, Non-obstructive azoospermia, Kyphosis, Cryptorchidism, Contracture of the p... ORPHA:2232
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal dental enamel morphology, Abnormal form of the vertebral bodies ORPHA:2050
Alstrom Syndrome
Kyphosis, Subcapsular cataract, Truncal obesity, Scoliosis OMIM:203800
Iniencephaly
Omphalocele, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis mult... ORPHA:63259
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Cryptorchidism, Patent ductus arteriosus, Scoliosis, Peters anomaly OMIM:616975
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Osteogenesis Imperfecta, Type Iv
Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Abnormal dental enamel morphology, Scoliosis ORPHA:1005
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Progressive flexion contractures, Scoliosis ORPHA:522077
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis, Cryptorchidism ORPHA:404440
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Contracture of the proximal interp... OMIM:618223
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis, Enthesitis OMIM:106300
Monosomy 9Q22.3
Cataract, Large for gestational age, Short neck, Kyphosis, Abnormality of the vertebral column, U... ORPHA:77301
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly, Dentinogenesis imperfecta OMIM:616294
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Corneal opacity, Small for gestational age, Kyphosis, Cryptorchidism... ORPHA:464306
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Truncal obesity OMIM:219080
Cohen Syndrome
Failure to thrive in infancy, Kyphosis, Cryptorchidism, Obesity, Scoliosis, Iris coloboma ORPHA:193
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Cataract, Bilateral cryptorchidism, Kyphosis, Flexion contracture, Abnormal form... ORPHA:3042
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Camptodactyly of finger, Scoliosis, Cryptorchidism OMIM:619951
2P15P16.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Failure to thrive, Decreased testi... ORPHA:261349
Coffin-Lowry Syndrome
Kyphosis, Cataract, Scoliosis, Abnormal form of the vertebral bodies ORPHA:192
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Camptodactyly of finger, Kyphosis, Cryptorchidism, Scoliosis, Arthrogryposis mul... ORPHA:2215
Hajdu-Cheney Syndrome
Inguinal hernia, Cataract, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Patent ductus ... ORPHA:955
16Q24.3 Microdeletion Syndrome
Kyphosis, Astigmatism, Scoliosis, Cryptorchidism ORPHA:261250
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Small for gestational age, Kyphosis, Cryptorchidism, Develop... OMIM:133540
Classic Homocystinuria
Cataract, Ectopia lentis, Kyphosis, Hernia, Scoliosis ORPHA:394
Ramon Syndrome
Kyphosis, Axenfeld anomaly, Scoliosis, Decreased body weight OMIM:266270
Wolf-Hirschhorn Syndrome
Sacral dimple, Sclerocornea, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Abnormal ... ORPHA:280
Marfan Syndrome
Inguinal hernia, Flat cornea, Cachexia, Lens luxation, Ectopia lentis, Kyphosis, Hypoplasia of th... ORPHA:558
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Vertebral segment... ORPHA:251014
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Cryptorchidism, Flexion contracture, Increased body weight, Abdominal obesity, Scoliosi... ORPHA:398069
Marshall-Smith Syndrome
Omphalocele, Thoracic scoliosis, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplasia of the odon... OMIM:602535
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:607778
Weaver Syndrome
Inguinal hernia, Kyphosis, Patent ductus arteriosus, Cryptorchidism, Hydrocele testis, Scoliosis,... OMIM:277590
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Failure to thrive, Macular scar OMIM:239000
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Kyphosis, Developmental cataract, Microcornea, Scoliosis, Contracture of the pro... ORPHA:464738
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Cryptorchidism, Kyphosis, Elbow flexion contracture, Knee flexion co... OMIM:619194
Mend Syndrome
Sacral dimple, Cataract, Failure to thrive, Kyphosis, Cryptorchidism, Anterior polar cataract OMIM:300960
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenes... OMIM:610915
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hip contracture, Sacral dimple, Inguinal hernia, Thoracolumb... OMIM:619503
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Patent ductus arteriosus, Decreased body weight, F... OMIM:618371
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Mucopolysaccharidosis, Type Ii
Inguinal hernia, Short neck, Kyphosis, Flexion contracture, Umbilical hernia OMIM:309900
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Prader-Willi Syndrome
Failure to thrive in infancy, Kyphosis, Cryptorchidism, Obesity, Abdominal obesity, Scoliosis, Ir... OMIM:176270
Atelis Syndrome 2
Patent ductus arteriosus, Kyphosis, Sacral dimple, Developmental cataract OMIM:620185
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Failure to thrive, Scoliosis ORPHA:476126
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebrae, Scoliosis, Umbilical hernia OMIM:301040
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Cachexia, Scoliosis ORPHA:1969
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Patent ductus arteriosus, Scoli... OMIM:616894
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Kyphosis, Cryptorchidism, Corneal scarring, Developmental cataract, Join... OMIM:309000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body OMIM:618476
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Mgat2-Cdg
Kyphosis, Patent ductus arteriosus, Failure to thrive, Scoliosis ORPHA:79329
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Cryptorchidism OMIM:619244
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Truncal obesity OMIM:610489
Branchiooculofacial Syndrome
Cataract, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Elbow flexion contracture, Atypica... OMIM:113620
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Abnormal subcutaneous fat tissue distribution, Failure to thrive, Flexion contracture OMIM:212065
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Failure to thrive,... OMIM:618050
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Developmental glaucoma, Bupht... OMIM:249420
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Scoliosis OMIM:619557
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Failure to thrive, Contractures of the large joints OMIM:617527
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lisch nodules, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:363700
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Cataract, Kyphosis, Cryptorchidism, Atypica... OMIM:216400
Mend Syndrome
Sacral dimple, Cataract, Kyphosis, Cryptorchidism, Failure to thrive ORPHA:401973
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Failure to thrive, Contractures of the large joints ORPHA:521426
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Noonan Syndrome 14
Cryptorchidism, Kyphosis, Short neck OMIM:619745
Stickler Syndrome
Cataract, Abnormal dental enamel morphology, Cachexia, Ectopia lentis, Kyphosis, Spinal canal ste... ORPHA:828
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Aspartylglucosaminuria
Cataract, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Hernia, Macroorchidism, Beaking of v... OMIM:208400
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Cataract, Cachexia, Band keratopathy, Kyphosis, Cryptorchidi... ORPHA:191
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Decreased body weight, Scoliosis, Cryptorchidism OMIM:619005
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Camptodactyly, Cryptorchidism OMIM:619123
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert... ORPHA:1724
Cowden Syndrome
Cataract, Kyphosis, Scoliosis, Lipoma, Failure to thrive, Conjunctival hamartoma ORPHA:201
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis OMIM:300966
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Cockayne Syndrome Type 3
Cataract, Kyphosis, Flexion contracture, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Sc... ORPHA:90324
Oculocerebrorenal Syndrome Of Lowe
Inguinal hernia, Cataract, Corneal opacity, Abnormal dental enamel morphology, Kyphosis, Cryptorc... ORPHA:534
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Inguinal hernia OMIM:609944
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Cataract, Small for gestational age, Failure to thrive in infancy, Inguinal hernia... ORPHA:268261
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis, Cryptorchidism OMIM:619718
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Camptodactyly o... ORPHA:2273
Smith-Lemli-Opitz Syndrome
Cataract, Abnormal dental enamel morphology, Sclerocornea, Short neck, Congenital diaphragmatic h... ORPHA:818
Triosephosphate Isomerase Deficiency
Kyphosis, Failure to thrive OMIM:615512
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Patent ductus arteriosus afte... ORPHA:500150
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Marden-Walker Syndrome
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Arthrogrypos... ORPHA:2461
Autosomal Recessive Robinow Syndrome
Sacral dimple, Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Ve... ORPHA:1507
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Localized hypoplasia of dental enamel, Hyperlordosis ORPHA:73223
Neurofibromatosis Type 1
Cataract, Corneal opacity, Kyphosis, Cryptorchidism, Multiple lipomas, Scoliosis, Lisch nodules, ... ORPHA:636
Poland Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Cryptorchidism, Absence of subcutaneous fa... ORPHA:2911
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Osteogenesis Imperfecta
Inguinal hernia, Corneal opacity, Cervical kyphosis, Small for gestational age, Abnormal dental e... ORPHA:666
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly ORPHA:1855
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Kyphosis, Knee flexion contracture, Weight loss, Umbilical hernia ORPHA:576
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Cataract, Overweight, Kyphosis, Obesity, Abnormal curvature of the vertebral column, S... OMIM:619475
1P36 Deletion Syndrome
Cataract, Camptodactyly of finger, Kyphosis, Cryptorchidism, Patent ductus arteriosus, Ocular alb... ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Kyphosis, Patent ductus arteriosus, Cryptorchidism, Scoliosis, Slender build OMIM:300967
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Astigmatism, Scoliosis OMIM:619482
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Knee flexion contracture OMIM:619708
Zttk Syndrome
Kyphosis, Patent ductus arteriosus, Flexion contracture, Hemivertebrae, Scoliosis, Failure to thrive OMIM:617140
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormality of the Leydig cells, Camptodactyly, Testicu... ORPHA:3063
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Rieger anomaly, Small for gestational age, Kyphosis, Cryptorchid... OMIM:194190
Cdags Syndrome
Kyphosis OMIM:603116
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Kyphosis, Atypical scarring of skin, Pl... ORPHA:198
Proteus Syndrome
Central heterochromia, Cataract, Abnormal dental enamel morphology, Testicular neoplasm, Cachexia... ORPHA:744
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Kyphosis, Cryptorchidism, Sco... ORPHA:2658
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Kyphoscoliosis, Cryptorchidism, Microcornea, Ciliary body coloboma, Scolios... OMIM:309800
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Enamel hypoplasia, Spondylolisthesis OMIM:119600
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Abnormal dental enamel morphology ORPHA:85199
Coffin-Lowry Syndrome
Inguinal hernia, Kyphosis, Lumbar kyphosis, Scoliosis, Decreased body weight, Uterine prolapse OMIM:303600
Coffin-Siris Syndrome 1
Sacral dimple, Inguinal hernia, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Patent... OMIM:135900
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Hiatus hernia OMIM:304150
Wrinkly Skin Syndrome
Inguinal hernia, Kyphosis, Cryptorchidism, Scoliosis, Umbilical hernia, Failure to thrive OMIM:278250
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Neck pterygia, Atypical scarring of ... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Neck pterygia, Atypical scarring of ... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Neck pterygia, Atypical scarring of ... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Neck pterygia, Atypical scarring of ... ORPHA:99226
Sotos Syndrome
Sacrococcygeal teratoma, Hip contracture, Cataract, Inguinal hernia, Ankle flexion contracture, C... ORPHA:821
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Primrose Syndrome
Hip contracture, Bilateral cryptorchidism, Kyphosis, Cryptorchidism, Flexion contracture, Knee fl... OMIM:259050
Viss Syndrome
Inguinal hernia, Kyphosis, Patent ductus arteriosus, Scoliosis, Umbilical hernia, Failure to thri... OMIM:619472
17Q11 Microdeletion Syndrome
Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis, Lis... ORPHA:97685
Acromegaly
Kyphosis, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Kyphosis, Spinal canal stenosis ORPHA:314769
Yunis-Varon Syndrome
Cataract, Small for gestational age, Anterior concavity of thoracic vertebrae, Sclerocornea, Fail... OMIM:216340
Alström Syndrome
Thoracic scoliosis, Cataract, Dorsocervical fat pad, Testicular fibrosis, Kyphosis, Posterior sub... 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 Vcpip1

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 Vcpip1.

No publications found that use IMPC mice or data for Vcpip1.

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
Vcpip1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Vcpip1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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