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Gene: Prss21 MGI:1916698

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Gene Summary

Name:
serine protease 21
Synonyms:
TESP5,  testisin,  1700023E12Rik,  mT4

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 spleen morphology Prss21em1(IMPC)Ccpcz HET Early adult 0.00
abnormal thymus morphology Prss21em1(IMPC)Ccpcz HET Early adult 0.00
enlarged thymus Prss21em1(IMPC)Ccpcz HET Early adult 0.00
lordosis Prss21em1(IMPC)Ccpcz HET   Early adult 7.34×10-05
preweaning lethality, complete penetrance Prss21em1(IMPC)Ccpcz HOM   Early adult 0.00
wrinkled skin Prss21em1(IMPC)Ccpcz HET Early adult 0.00
hydrometra Prss21em1(IMPC)Ccpcz HET Early adult 0.00
increased circulating total protein level Prss21em1(IMPC)Ccpcz HET Early adult 9.14×10-05
abnormal skin morphology Prss21em1(IMPC)Ccpcz HET Early adult 0.00
abnormal uterus morphology Prss21em1(IMPC)Ccpcz HET Early adult 0.00
abnormal heart morphology Prss21em1(IMPC)Ccpcz HET Early adult 0.00
enlarged heart Prss21em1(IMPC)Ccpcz HET Early adult 0.00
kyphosis Prss21em1(IMPC)Ccpcz HET   Early adult 1.43×10-05
abnormal spine curvature Prss21em1(IMPC)Ccpcz HET   Early adult 2.70×10-05

Download data as:  TSV  XLS

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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 Hind Leg and Hip

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Human diseases caused by Prss21 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 Prss21 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
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
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Spermatogenic Failure 17
Male infertility OMIM:617214
Transaldolase Deficiency
Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Telangiectasia, Abnormal circulating gluta... ORPHA:101028
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... OMIM:300718
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Scoliosis, Cutis laxa OMIM:614434
Isolated Glycerol Kinase Deficiency
Cryptorchidism, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis ORPHA:408
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Elevated circulating creatine kinase concentration... OMIM:255600
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco... OMIM:617404
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:600175
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Dil... ORPHA:206546
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... OMIM:600561
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:280333
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... ORPHA:158048
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... OMIM:609223
Cog7-Cdg
Hepatomegaly, Elevated circulating creatine kinase concentration, Short neck, Jaundice, Hepatospl... ORPHA:79333
Myopathy, Distal, 1
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Left atrial enlargement... OMIM:160500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal ... OMIM:609308
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Gaisböck Syndrome
Plethora, Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration... ORPHA:90041
Mucolipidosis Type Iii
Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal form of the vertebral... ORPHA:577
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Polycystic ovaries, Dry ... ORPHA:3085
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:617054
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Elevated circulating creatine kinase concentration, Hyperlordosis ORPHA:62
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Short neck, Cryptorchidism, Splenom... ORPHA:1655
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Scoliosis OMIM:602484
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Ethanolaminosis
Cardiomegaly OMIM:227150
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Rigid Spine Syndrome
Hyperlordosis, Scoliosis, Spinal rigidity ORPHA:97244
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve... OMIM:252605
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Spinal Muscular Atrophy, Infantile, James Type
Lumbar hyperlordosis, Scoliosis OMIM:619042
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Scoliosis, Hyperlordosis OMIM:611067
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Cryptorchidism, Anemia, Hyperlordosis ORPHA:1192
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:615290
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Hyperlordosis ORPHA:352470
Congenital Myopathy 2A, Typical, Autosomal Dominant
Spinal rigidity, Hyperlordosis, Dilated cardiomyopathy, Scoliosis, Mildly elevated creatine kinase OMIM:161800
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Elevated circulating creatine kinase concentration, Hyperlordosis, Cryptorchidism, Scoliosis, Lef... OMIM:613156
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Abnormal sacrum morphology, Abnormal morphology of female internal gen... ORPHA:1797
Geroderma Osteodysplasticum
Kyphoscoliosis, Progeroid facial appearance, Vertebral compression fracture, Neonatal wrinkled sk... OMIM:231070
Congenital Myopathy 16
Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:618524
Dermatoleukodystrophy
Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Kyphosis, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Cataract-Intellectual Disability-Hypogonadism Syndrome
Prematurely aged appearance, Hypogonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Scoliosis ORPHA:1387
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Acrogeria
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Excessive wrinkled skin, Sco... ORPHA:2500
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Microcephalic Primordial Dwarfism, Montreal Type
Prematurely aged appearance, Kyphosis, Cryptorchidism, Premature graying of hair, Vertebral segme... ORPHA:2617
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Elevated circulating creatine kinase concentrati... OMIM:619542
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Kyphoscoliosis, Cardiomegaly OMIM:300886
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... ORPHA:1354
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp... OMIM:615895
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613818
Microphthalmia, Syndromic 8
Cryptorchidism, Premature skin wrinkling OMIM:601349
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613723
Sandhoff Disease
Splenomegaly, Kyphosis, Hepatomegaly ORPHA:796
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Short neck, Thyroid lymphangiectasi... OMIM:235255
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... ORPHA:363705
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormality of the pancreas, Abnormal vagina morp... ORPHA:2315
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:618129
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Lumbar hyperlordosis, Abnormal macrophage morphology, Elevated circulating creatine kinase concen... ORPHA:353
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale, Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:615156
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Spinal rigidity, Elevated circulating creatine kinase concentration, Hyperlordosis ORPHA:267
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Diastrophic Dysplasia
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic cervical vertebrae OMIM:222600
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Bethlem Myopathy 2
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis OMIM:616471
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte... ORPHA:2522
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulati... OMIM:603553
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis OMIM:615761
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Cardio... ORPHA:86812
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Anauxetic Dysplasia 2
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... OMIM:617396
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Poor wound healing, Kyphosis, Pallor, Scoliosis, Mildly elevated c... ORPHA:536516
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Hyperlordosis, Right ventricular dilatation, ... OMIM:253700
Combined Oxidative Phosphorylation Deficiency 36
Hyperalaninemia, Premature skin wrinkling OMIM:617950
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis OMIM:610687
Nemaline Myopathy 5C, Autosomal Dominant
Scoliosis, Hyperlordosis OMIM:620389
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Satoyoshi Syndrome
Hyperlordosis, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abno... ORPHA:3130
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Myasthenic Syndrome, Congenital, 14
Mildly elevated creatine kinase, Scoliosis, Hyperlordosis OMIM:616228
Hypochondroplasia
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:429
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Di... OMIM:607155
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Cog5-Cdg
Hepatomegaly, Short neck, Cryptorchidism, Hepatosplenomegaly, Premature skin wrinkling, Micropenis ORPHA:263487
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Increased circulatin... OMIM:600462
Alg8-Cdg
Hyponatremia, Abnormality of subcutaneous fat tissue, Cutis laxa, Anemia, Premature skin wrinklin... ORPHA:79325
Dengue Fever
Hepatomegaly, Thrombocytopenia, Leukopenia, Bruising susceptibility, Hypoproteinemia, Petechiae ORPHA:99828
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cryptorchidism, Hypoplasia of the prostate, Scoliosis, Micropenis, Scheuermann-like ver... OMIM:301900
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,... ORPHA:90362
Ck Syndrome
Abnormal circulating cholesterol concentration, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Facioscapulohumeral Dystrophy
Elevated circulating creatine kinase concentration, Hyperlordosis ORPHA:269
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Sc... OMIM:606612
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Prominent superficial veins, Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral h... OMIM:616817
Myopathy, Centronuclear, 1
Mildly elevated creatine kinase, Hyperlordosis OMIM:160150
Leptospirosis
Hepatomegaly, Pericarditis, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Thrombocytopenia ORPHA:509
Acrocapitofemoral Dysplasia
Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Hyperlordosis ORPHA:157973
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Elevated circulat... OMIM:300280
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosi... ORPHA:3041
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Prolonged neonatal jaundice, Cryptorchidism OMIM:618512
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:613157
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... OMIM:256050
Nicolaides-Baraitser Syndrome
Excessive wrinkled skin, Cryptorchidism, Abnormal testis morphology, Scoliosis ORPHA:3051
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis ORPHA:1548
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... OMIM:235200
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Ataxia-Telangiectasia
Prematurely aged appearance, Telangiectasia of the skin, Abnormal testis morphology, Polycystic o... ORPHA:100
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ... ORPHA:99642
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:98855
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers ORPHA:498359
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Congenital Myopathy 8
Scoliosis, Cardiomegaly OMIM:618654
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... OMIM:241600
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Angiokeratoma... OMIM:230000
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98863
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:98853
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T... OMIM:264180
Nemaline Myopathy 2
Spinal rigidity, Mildly elevated creatine kinase, Scoliosis, Hyperlordosis OMIM:256030
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase co... ORPHA:26793
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,... OMIM:253000
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:167320
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vertebrae, Scoliosis OMIM:618363
Lipodystrophy, Familial Partial, Type 6
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnorma... OMIM:615980
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral... OMIM:602557
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hyperlordosis, Cardiomyopathy, Abnormality of... ORPHA:52430
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hyperlordosis, Right ventricular dilatation, Abnormal circulating creatine kinase c... ORPHA:369840
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis OMIM:617760
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Pallor ORPHA:2786
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Hepatosplenomegaly, Platyspondyly, Squared-off platyspondyly, Scoliosi... ORPHA:93352
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis, Cutis laxa OMIM:619451
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Premature skin wrinkling, Cutis laxa, Dermal translucency OMIM:616603
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Abnormal circulating C-reactive protein concentration, Thoracol... ORPHA:1159
Congenital Myopathy 4A, Autosomal Dominant
Dilated cardiomyopathy, Lumbar hyperlordosis, Scoliosis OMIM:255310
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:611588
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi... OMIM:226300
Citrullinemia Type Ii
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia... ORPHA:247585
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis OMIM:162370
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Winchester Syndrome
Kyphosis OMIM:277950
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Short neck OMIM:618393
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia, Hyperlordosis OMIM:619980
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Peric... ORPHA:167
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis OMIM:617352
Mucopolysaccharidosis, Type X
Thickened aortic valve cusp, Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodi... OMIM:619698
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Cutis marmorata, Scoliosis OMIM:619719
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Jaundice, Hypoproteinemia OMIM:608093
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hypertrophic cardiomyopathy OMIM:618234
Short Syndrome
Ovarian cyst, Premature skin wrinkling, Prominent superficial veins OMIM:269880
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis OMIM:617450
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... OMIM:615084
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
Gm1 Gangliosidosis
Ventricular septal defect, Hyperlordosis, Kyphosis, Splenomegaly, Abnormal form of the vertebral ... ORPHA:354
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Scoliosis ORPHA:2598
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Kyphoscoliosis, Acanthocytosis, Short neck, Scoliosis, Poikilocytosis, Prematu... OMIM:618947
Muscular Dystrophy, Duchenne Type
Elevated circulating creatine kinase concentration, Hyperlordosis, Dilated cardiomyopathy, Cardio... OMIM:310200
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis OMIM:616852
Congenital Myopathy 10B, Mild Variant
Elevated circulating creatine kinase concentration, Hyperlordosis, Abnormal circulating creatine ... OMIM:620249
Thoracomelic Dysplasia
Hyperlordosis, Short neck ORPHA:1803
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypert... OMIM:252920
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormal circulating creatine kinase concentration, Sco... OMIM:618484
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperlordosis, Kyphosis, Scoliosis, Bruising susceptibility, Fragile skin OMIM:617821
Ehlers-Danlos Syndrome, Classic-Like, 2
Thoracic scoliosis, Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poo... OMIM:618000
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hypertriglyceridemia, Telangiectasia of the skin, Kyphosis, Cryptorchidism, Lack of... OMIM:615381
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation OMIM:184250
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Vacuolated lym... OMIM:230500
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin, Lymphangioma, Ovarian neoplasm ORPHA:137608
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:435387
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Spinal canal stenosis, Hypertrophic ... ORPHA:85451
Myoclonic-Astatic Epilepsy
Premature skin wrinkling ORPHA:1942
Oculoskeletodental Syndrome
Hypercalcemia, Hyperlordosis, Thoracic kyphosis, Hypocalcemia, Scoliosis ORPHA:557003
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Kyphosis, Elevated circulating creatine kinase concentration OMIM:619040
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Atrial septal defec... OMIM:618870
Fg Syndrome Type 1
Sacral dimple, Hypospadias, Facial wrinkling, Cryptorchidism, Mitral valve prolapse, Small pituit... ORPHA:93932
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... ORPHA:786
Joubert Syndrome 37
Hepatomegaly, Lumbar hyperlordosis, Cryptorchidism, Micropenis, Decreased testicular size OMIM:619185
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Schwartz-Jampel Syndrome, Type 1
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Elevated circulating creatin... OMIM:255800
Autosomal Recessive Centronuclear Myopathy
Left ventricular hypertrophy, Abnormal heart valve morphology, Hyperlordosis ORPHA:169186
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis ORPHA:2511
Three M Syndrome 1
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida occulta, Decreas... OMIM:273750
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... ORPHA:171436
Alg1-Cdg
Kyphosis, Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemia, Scoliosis ORPHA:79327
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Thanatophoric Dysplasia Type 1
Redundant skin, Abnormal sacroiliac joint morphology, Kyphosis, Excessive wrinkled skin, Platyspo... ORPHA:1860
Alpha-N-Acetylgalactosaminidase Deficiency
Vascular skin abnormality, Scoliosis, Cardiomegaly ORPHA:3137
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes OMIM:269920
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Cryptorchidism... ORPHA:500
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Progeroid facial appearance, Cryptorchidism, Cutis laxa, Pulmonic stenosis, Testi... ORPHA:75496
Sjögren-Larsson Syndrome
Kyphosis, Erythema, Urticaria, Scoliosis, Dry skin ORPHA:816
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Hypertrophic cardiomyopathy OMIM:618237
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... ORPHA:582
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Atrial septal defect, Prominent superficial veins, Absent ni... OMIM:612289
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Hyperlordos... ORPHA:26791
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis ORPHA:353327
Lateral Meningocele Syndrome
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... ORPHA:2789
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Spinal rigidity, Cardiomegaly, Hyperlordosis,... ORPHA:268
Opitz-Kaveggia Syndrome
Sacral dimple, Lumbar hyperlordosis, Hypospadias, Facial wrinkling, Short neck, Cryptorchidism, A... OMIM:305450
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Kyphosis, Scoliosis, Short neck OMIM:611890
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... ORPHA:750
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Abnormal intrahepatic ... ORPHA:363618
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis, Atrial septal defect ORPHA:352490
Alpha-Mannosidosis
Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Scoliosis, Generalized abnormality of skin ORPHA:61
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis OMIM:146000
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Cryptorchidism, Scoliosis OMIM:114300
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:178148
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron... OMIM:619991
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Short neck, Cardiomegaly, Secundum at... OMIM:300855
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal ri... OMIM:613327
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... OMIM:609616
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Werner Syndrome
Low back pain, Hypertriglyceridemia, Prematurely aged appearance, Elevated hemoglobin A1c, Proger... OMIM:277700
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... OMIM:253010
Genitopalatocardiac Syndrome
Hypospadias, Kyphosis, Cryptorchidism, Male pseudohermaphroditism, Abnormal mesentery morphology,... ORPHA:2075
Amyotrophic Lateral Sclerosis 27, Juvenile
Scoliosis, Hyperlordosis OMIM:620285
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... ORPHA:352447
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Telangiectasia of the skin, Lack of skin elasticity, Mitral valv... ORPHA:758
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Scoliosi... ORPHA:3191
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Sc... OMIM:612940
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Geroderma Osteodysplastica
Prematurely aged appearance, Redundant skin, Vertebral compression fracture, Abnormal form of the... ORPHA:2078
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Decreased response to growth hormone stimulation test, ... OMIM:216550
Steel Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:615155
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Pericardial ... ORPHA:77259
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Becker Nevus Syndrome
Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ... ORPHA:64755
Fucosidosis
Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar ... ORPHA:349
Myopathy, Myofibrillar, 7
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Thorac... OMIM:617114
Wieacker-Wolff Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:314580
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... OMIM:608776
Sialidosis Type 2
Splenomegaly, Kyphosis, Hepatomegaly ORPHA:87876
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial se... OMIM:618652
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Hepatomegaly, Portal hypertension, H... OMIM:613385
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Barber-Say Syndrome
Absent nipple, Redundant skin, Cryptorchidism, Hypoplastic labia minora, Hypoplastic labia majora... OMIM:209885
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... ORPHA:324410
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnor... ORPHA:2311
Ectodermal Dysplasia-Syndactyly Syndrome 2
Ectodermal dysplasia, Cardiomegaly OMIM:613576
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, Glandular hypospadias, Uteri... ORPHA:1439
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Poor wound healing, Kyphosis, Bruising susceptibility, Scoliosis OMIM:130060
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse, Scoliosis, Hyperlordosis OMIM:300986
Trichodermodysplasia-Dental Alterations Syndrome
Abnormal morphology of female internal genitalia, Adenoma sebaceum, Scoliosis, Hyperlordosis ORPHA:3353
Arthrogryposis, Distal, Type 5D
Hypoplastic labia majora, Hyperlordosis, Scoliosis, Short neck OMIM:615065
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Cervical neoplasm, Hypercalcemia, Kyphoscoliosis, Hyperlordo... ORPHA:653
Autosomal Dominant Cutis Laxa
Redundant neck skin, Prematurely aged appearance, Redundant skin, Dilatation of the ventricular c... ORPHA:90348
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:48431
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Progeroid facial appearance ORPHA:79087
Keppen-Lubinsky Syndrome
Progeroid facial appearance, Premature skin wrinkling, Decreased testicular size, Scoliosis ORPHA:435628
Congenital Muscular Dystrophy, Ullrich Type
Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphosis, Scoliosis ORPHA:75840
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3218
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
3M Syndrome
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Cantu Syndrome
Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Cardiomegaly, Pericardial effusion, Cu... OMIM:239850
Schimke Immunoosseous Dysplasia
Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism,... OMIM:242900
Three M Syndrome 3
Increased vertebral height, Hyperlordosis, Short neck OMIM:614205
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Elevated circulating creatine kinase concentration, Short neck, Secundum atrial sep... OMIM:608779
Stuve-Wiedemann Syndrome 1
Premature skin wrinkling, Ovoid vertebral bodies, Scoliosis, Short neck OMIM:601559
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hyperlordosis ORPHA:3068
Multiple Endocrine Neoplasia, Type Iib
Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Parathyroid hyperplasia, Nodular goiter, Fl... OMIM:162300
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Lumbar hyperlordosis, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ... ORPHA:2232
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis OMIM:618443
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... ORPHA:93284
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Cryptorchidism, Shawl scrotum, Micropenis, Decreased testicular size OMIM:615433
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he... OMIM:212140
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Scoliosis, Hyperlordosis ORPHA:1323
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Abdominal situs inversus, Pulmonic... OMIM:619123
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Mcdonough Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2471
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis ORPHA:615
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space... OMIM:607944
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Nicolaides-Baraitser Syndrome
Cryptorchidism, Excessive wrinkled skin, Periorbital wrinkles, Scoliosis, Premature skin wrinkling OMIM:601358
Myotonia Permanens
Hyperlordosis ORPHA:99735
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis OMIM:156500
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert... ORPHA:3109
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Redundant skin, Kyphosis, Uterine leiomyoma, Platyspondyly, Palmoplantar cu... OMIM:616482
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Hypertriglyceridemia, Hypospadias, Pr... OMIM:264090
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Lumbar scoliosis, Cervical C2/C3 ... OMIM:617796
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Thrombocytopenia, Enlarged kidney, Lumbar kyphosis, Hepatosplen... ORPHA:505248
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Kyphosis, Cryptorchidism, Hyperu... ORPHA:191
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Thoracic scoliosis, Hypospadias, Hypergonadotropic hypogonadism, Lack o... ORPHA:2959
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Kyphosis, Pituitary adenoma, Facial erythema, Hypokalemia, Biconcave vertebra... OMIM:219090
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Mitral valve prolapse ORPHA:171881
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Cutis Laxa, Autosomal Recessive, Type Iia
Excessive wrinkled skin, Redundant skin, Scoliosis, Cutis laxa OMIM:219200
Cockayne Syndrome Type 2
Hepatomegaly, Progeroid facial appearance, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism ORPHA:90322
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Camurati-Engelmann Disease
Hepatomegaly, Hyperlordosis, Kyphosis, Splenomegaly, Abnormal subcutaneous fat tissue distributio... ORPHA:1328
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Abnormal cardiac septum morphology, Scoliosis, Aplasia of the uterus, T... ORPHA:3320
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Cyanosis, Ventricular septal defect, Abnor... ORPHA:860
Pycnodysostosis
Decreased response to growth hormone stimulation test, Hyperlordosis, Kyphosis, Hepatosplenomegal... ORPHA:763
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... ORPHA:3455
De Barsy Syndrome
Ventricular septal defect, Kyphoscoliosis, Progeroid facial appearance, Cryptorchidism, Prominent... ORPHA:2962
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Thrombocytopenia, Hyperlipidemia, Platy... ORPHA:1830
Anauxetic Dysplasia 1
Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Aortic ... OMIM:607095
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Ovarian cyst, Bruising susceptibility, Pancreatitis, Striae distensae OMIM:610475
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Redundant skin, Short neck, Cryptorchidism, Excessive wrinkled s... ORPHA:1340
3Mc Syndrome
Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Prominent coccyx, Scoliosis, Spina... ORPHA:293843
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenit... OMIM:618886
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis, Cryptorchidism OMIM:619797
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly OMIM:619064
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Baralle-Macken Syndrome
Kyphosis, Striae distensae OMIM:619255
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Congenital Muscular Dystrophy With Cerebellar Involvement
Cardiomyopathy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:370959
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elevated circulating creatine kinase concentration OMIM:618138
Microphthalmia, Lenz Type
Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis ORPHA:568
Sialidosis Type 1
Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Vascular skin abnormality ORPHA:812
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Kyphosis, Cryptorchidism, Hypogonadism, Micropenis, Decreased testicular size, Stria... OMIM:300354
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... ORPHA:57777
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Hyperlordosis,... OMIM:616007
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Premature graying of hair, Anemia, Excessive wrinkled skin, Bone m... ORPHA:3322
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Lumbar hyperlordosis, Mitral valve prolapse ORPHA:2848
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly OMIM:618838
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordo... ORPHA:175
Three M Syndrome 2
Hyperlordosis, Lumbar hyperlordosis, Short neck OMIM:612921
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis ORPHA:583
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Redundant skin, Progeroid facial appearance, Poor wound healing, Prema... OMIM:123700
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... ORPHA:99429
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Cardiac-Urogenital Syndrome
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... OMIM:618280
Focal Facial Dermal Dysplasia Type Iii
Abnormal sacroiliac joint morphology, Prematurely aged appearance, Redundant skin ORPHA:1807
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hypopl... OMIM:617022
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Ectodermal dysplasia, Small scrotum, Hypogonadism, Hyperlordosis ORPHA:3253
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Subcu... ORPHA:2969
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vertebral endplates, P... OMIM:226980
Acromesomelic Dysplasia 1
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Redundant... OMIM:602875
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Ruvalcaba Syndrome
Kyphosis, Scoliosis, Cryptorchidism OMIM:180870
Wrinkly Skin Syndrome
Redundant skin, Progeroid facial appearance, Kyphosis, Muscular ventricular septal defect, Crypto... OMIM:278250
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... ORPHA:457395
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology ORPHA:174
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis, Prematurely aged appearance ORPHA:633
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... OMIM:619151
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
3C Syndrome
Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Hypospadias, Sh... ORPHA:7
Partial Androgen Insensitivity Syndrome
Fused labia majora, Bifid scrotum, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Chromosome 10Q26 Deletion Syndrome
Lumbar hyperlordosis, Small scrotum, Short neck, Cryptorchidism, Atrial septal defect, Micropenis OMIM:609625
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Scoliosis OMIM:300602
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a... OMIM:300942
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614702
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Kyphosis, Cryptorchidism, Abn... ORPHA:94065
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Spina bifida occulta, Scoliosis, Hyperlordosis ORPHA:2780
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba... OMIM:250250
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Campomelia, Cumming Type
Hepatomegaly, Abnormally ossified vertebrae, Prematurely aged appearance, Pancreatic cysts, Abnor... ORPHA:1318
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta ORPHA:2983
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Hidrotic ectodermal dysplasia, Scoliosis ORPHA:1883
Meacham Syndrome
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno... ORPHA:3097
Thanatophoric Dysplasia
Redundant skin, Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Atrial septal defect ORPHA:2655
Smith-Mccort Dysplasia 2
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck OMIM:615222
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Pfeiffer Syndrome
Hyperlordosis, Short neck ORPHA:710
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Hypospadias, Short neck, Precocious puberty, Cryptorchidism, Kyphosis,... ORPHA:254346
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... ORPHA:1427
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:619051
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Progeroid facial appearance, Polycystic o... ORPHA:79086
Martsolf Syndrome 1
Thoracic scoliosis, Lumbar hyperlordosis, Hypogonadotropic hypogonadism, Cryptorchidism, Cardiomy... OMIM:212720
Trisomy 13
Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect, Displacemen... ORPHA:3378
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, ... ORPHA:79330
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Short neck, Micropenis, Platyspondyly, Hype... OMIM:616897
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis OMIM:618124
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor ORPHA:99931
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Spina bifida occulta OMIM:169550
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Scoliosis OMIM:601152
Alstrom Syndrome
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hy... OMIM:203800
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Hypogonadism ORPHA:3409
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... OMIM:602782
Stiff-Person Syndrome
Lumbar hyperlordosis, Anemia OMIM:184850
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Rhizomelic Syndrome, Urbach Type
Kyphosis, Pulmonic stenosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Scoliosis OMIM:609008
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,... ORPHA:2916
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Abnormality of the vertebral column, Bicornuate uterus OMIM:601076
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:201475
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis, Mitral valve prolapse ORPHA:137834
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
Weismann-Netter Syndrome
Anemia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Bethlem Myopathy
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Spinal rigidity ORPHA:610
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Lumbar hyperlordosis, Mitral stenosis, Ovoid vertebral bodies, Kyphoscoliosis, Ante... OMIM:253200
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Spina bifida occulta OMIM:617466
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Hemivertebrae, Aplasia ... OMIM:271520
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Hyper... ORPHA:280365
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Abnormal heart morphology, Parathyroid hypo... ORPHA:2237
Marinesco-Sjogren Syndrome
Kyphosis, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Sco... OMIM:248800
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Test... ORPHA:363958
Thanatophoric Dysplasia Type 2
Atrial septal defect, Kyphosis, Platyspondyly, Redundant skin ORPHA:93274
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Prominent superficial blood vessels, Mitral ... ORPHA:740
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis OMIM:615834
Trichorhinophalangeal Syndrome Type 1
Scoliosis, Hyperlordosis ORPHA:77258
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Progeroid facial appearance ORPHA:50811
Arthrogryposis, Distal, Type 4
Hypoplastic labia majora, Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Seckel Syndrome 7
Hypoplasia of the uterus, Lumbar scoliosis OMIM:614851
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Cryptorchidism, Cutis laxa, Excessive wrinkled skin, Dermal transluc... OMIM:614438
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue, Scoliosis ORPHA:1901
Ablepharon-Macrostomia Syndrome
Redundant skin, Hypoplastic labia majora, Premature skin wrinkling, Hypoplastic nipples, Ambiguou... OMIM:200110
Holt-Oram Syndrome
Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S... ORPHA:392
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Cowden Syndrome 5
Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Subcutaneous lipoma, Goiter OMIM:615108
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Lumbar hyperlordosis, Decreased response to growth hormone stimulation test, Lumbar ky... OMIM:619234
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, Lumbar hyperlordosis OMIM:602471
Cowden Syndrome 6
Kyphosis, Hydrocele testis, Ovarian cyst, Scoliosis, Varicocele, Subcutaneous lipoma, Goiter OMIM:615109
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Enlarged kidney OMIM:618272
Xfe Progeroid Syndrome
Prematurely aged appearance, Cutaneous photosensitivity, Hypoalbuminemia, Scoliosis, Dry skin OMIM:610965
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lumbar hyperlordosis, Ventricular septal defect, External genital hypoplasia, Short neck, Cryptor... ORPHA:251028
Noonan Syndrome 14
Short neck, Cryptorchidism, Kyphosis, Dry skin, Mitral valve prolapse, Pulmonic stenosis, Hypertr... OMIM:619745
Pure Mitochondrial Myopathy
Lumbar hyperlordosis, Scoliosis ORPHA:254854
Flynn-Aird Syndrome
Kyphosis, Skin ulcer, Scoliosis ORPHA:2047
Trichothiodystrophy 5, Nonphotosensitive
Cutis marmorata, Progeroid facial appearance, Micropenis, Cutaneous photosensitivity, Panhypopitu... OMIM:300953
Diastrophic Dysplasia
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ... ORPHA:628
Werner Syndrome
Prematurely aged appearance, Telangiectasia of the skin, Lack of skin elasticity, Skin ulcer, Ova... ORPHA:902
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperlordosis, Scoliosis, Hepat... OMIM:615356
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance OMIM:227260
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Kyphosis, Macronodular adrenal hyperplasia, Bruising susceptibility, Striae ... OMIM:219080
Schaaf-Yang Syndrome
Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis, Micropenis OMIM:615547
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Dysplastic sacrum, Severe platyspondyly, Short neck OMIM:613320
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Redundant skin, Abnormal subcutaneous fat tissue distribution, Prominent vei... ORPHA:357074
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Stiff Person Spectrum Disorder
Lumbar hyperlordosis ORPHA:3198
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Ab... ORPHA:555874
Autosomal Recessive Cutis Laxa Type 2A
Excessive wrinkled skin, Progeroid facial appearance ORPHA:357058
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Saethre-Chotzen Syndrome
Cryptorchidism, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:794
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Cowden Syndrome 1
Kyphosis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scoliosis, Lymphopenia, Varicocele, ... OMIM:158350
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly OMIM:215150
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Scoliosis OMIM:614409
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hyperlordosis, Precocious puberty, Hepatosplenomegaly, Cholecystitis, Cholelithiasis OMIM:301066
15Q14 Microdeletion Syndrome
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis ORPHA:261190
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:168558
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Secundum atrial septal defect, Kyphosis, Cryptorchidism, Micropenis, Scolio... OMIM:619951
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Lumbar hyperlordosis, Prominent protruding coccyx, Abnormal form of the vert... ORPHA:2839
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Shor... OMIM:253220
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Neutropenia, Biconcave ve... OMIM:271510
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck ORPHA:3082
Bloom Syndrome
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia ORPHA:125
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Facial erythema, Hypocalcemia, Scaling ski... OMIM:619503
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:289548
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Decreased response to growth hormone stimulation test, Micr... ORPHA:324737
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Elevated circulating creatine kinase concentration, Short neck, Hy... ORPHA:800
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Koolen-De Vries Syndrome
Vertebral fusion, Bicuspid aortic valve, Hypospadias, Kyphosis, Cryptorchidism, Vertebral segment... ORPHA:96169
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis ORPHA:404440
Trichothiodystrophy
Ventricular septal defect, Prematurely aged appearance, Cryptorchidism, Increased mean corpuscula... ORPHA:33364
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperlordosis, Sc... ORPHA:365
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Emanuel Syndrome
Sacral dimple, Truncus arteriosus, Ventricular septal defect, Kyphosis, Cryptorchidism, Micropeni... OMIM:609029
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Alexander Disease
Hyperlordosis, Precocious puberty, Kyphosis, Short neck, Scoliosis ORPHA:58
Cantú Syndrome
Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Cuboid-shaped ... ORPHA:1517
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Highly elevated creatine kinase, Scoliosis, Hyperlordosis ORPHA:258
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Hurler-Scheie Syndrome
Splenomegaly, Kyphosis, Scoliosis, Hepatomegaly OMIM:607015
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Hyperammonemia, Cardiomegaly ORPHA:391428
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Micropenis OMIM:248700
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop... OMIM:618419
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Jaundice, Normoch... OMIM:615512
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio... OMIM:277600
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Decreased HDL cholesterol concentration, Kyphoscoliosis, Cardiomeg... ORPHA:14
Hallermann-Streiff Syndrome
Hyperlordosis, Cryptorchidism, Telangiectasia, Scoliosis, Dry skin OMIM:234100
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Short neck ORPHA:247768
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Hyperlordosis OMIM:190350
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa ORPHA:2963
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Poor wound healing, Kyphoscoliosis, Excessive wrinkled skin, Platyspondyly, Palmoplantar cutis la... OMIM:225400
Cockayne Syndrome Type 1
Hepatomegaly, Progeroid facial appearance, Cryptorchidism, Scoliosis, Increased blood urea nitrog... ORPHA:90321
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Meckel Syndrome 14
Cyanosis, Short neck, Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Single ventricle OMIM:619879
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hepatomegaly, Prematurely aged appearance, Progeroid facial ... OMIM:216400
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Hurler Syndrome
Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Enlarged to... OMIM:607014
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Scoliosis ORPHA:464282
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Kyphosis, Thoracic scoliosis, Ventricular septal defect OMIM:603387
Frontorhiny
Hypopituitarism, Lumbar hyperlordosis, Scoliosis ORPHA:391474
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Hypospadias, Kyphoscoliosis, Hyperl... ORPHA:573278
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Lumbar hyperlordosis, Hyperlordosis OMIM:616078
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu... OMIM:601186
Stickler Syndrome, Type I
Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr... OMIM:108300
Saul-Wilson Syndrome
Prominent superficial veins, Progeroid facial appearance, Hypoplasia of the odontoid process, Irr... OMIM:618150
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Hypergonadotropic hypogonadism, Pericardial effusion, Kyphosis, Abnor... OMIM:212065
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/b... OMIM:301040
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Cryptorchidism ORPHA:3121
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Hyperlordosis, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD... ORPHA:221139
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Fountain Syndrome
Cutis marmorata, Kyphosis, Erythema, Abnormal form of the vertebral bodies, Scoliosis, Spina bifi... ORPHA:3219
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Hypospadias, Cutis marmorata, Kyphosis, Cryptorchidism, Scoliosis, Atr... OMIM:617602
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Hypertriglyceridemia, ... OMIM:606721
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Lack of skin elasticity, ... OMIM:608328
Distal Deletion 10Q
Atrial septal defect, Lumbar hyperlordosis, Spina bifida occulta ORPHA:96148
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Distal Triplication 15Q
Abnormal external genitalia, Kyphosis, Abnormal heart morphology, Hydrocele testis, Scoliosis, At... ORPHA:314588
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:608836
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Ventricular septal defect, Kyphos... OMIM:143095
Down Syndrome
Abnormality of the lymphatic system, Prematurely aged appearance, Acute megakaryocytic leukemia, ... ORPHA:870
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Kyphosis, Ventricular septal defect OMIM:619909
Arterial Tortuosity Syndrome
Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Myocarditis, Dilated car... ORPHA:3342
Harrod Syndrome
Kyphosis, Hypospadias, Scoliosis, Cryptorchidism ORPHA:2115
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,... OMIM:272460
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve... ORPHA:958
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Sacral dimple, Prematurely aged appearance, Short neck, Hype... OMIM:619950
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Kyphosis, Scoliosis, Atrial septal defect, Clitoral hyper... OMIM:616449
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Kyphosis, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpu... ORPHA:261250
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, R... ORPHA:904
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Hepatosplenome... OMIM:309900
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Prematurely aged appearance, Progeroid facial ... OMIM:133540
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve... ORPHA:1724
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ... ORPHA:439
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Mildly elevated creatine kinase, Scoliosis, Spinal rigidity OMIM:254090
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Achondroplasia
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... OMIM:100800
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Precocious puberty, Kyphosis, Cryptorchidism, Hypopla... ORPHA:398069
Wrinkly Skin Syndrome
Kyphoscoliosis, Cryptorchidism, Excessive skin wrinkling on dorsum of hands and fingers, Prominen... ORPHA:2834
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte... OMIM:619636
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia... OMIM:608013
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Increased serum... OMIM:252500
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Kyphosis, Mitral valve prolapse... OMIM:616914
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Dry skin, Cryptorchidism OMIM:619244
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Hyperlordosis, Cor pulmonale, Abnormal heart morphology, Scoliosis ORPHA:2020
Micro Syndrome
Hypoplasia of penis, Kyphosis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Sco... ORPHA:2510
Oeis Complex
Absence of the sacrum, Bifid uterus, Epispadias, Cryptorchidism, Sacral segmentation defect, Hemi... OMIM:258040
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom... OMIM:300967
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Cryptorchidism, ... ORPHA:3427
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Hyperlordosis, Cryptorchidism, Pineal cyst... OMIM:615873
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Recon Progeroid Syndrome
Progeroid facial appearance, Livedo reticularis, Dry skin, Anemia, Scaling skin, Cutaneous photos... OMIM:620370
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Redundant skin, Prematurely ... ORPHA:2658
Refsum Disease, Classic
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly OMIM:266500
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Progeroid facial appearance, Cutis laxa, Scoliosis, Aortic valve stenosi... OMIM:208050
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Hyperlordosis ORPHA:261330
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Hypertriglyceridemia, Redundant skin, Kyphoscoliosis, Pericard... ORPHA:536532
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Kyphosis, Cryp... OMIM:610443
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Hyperuricemia ORPHA:261222
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Redundant skin, Excessive wrinkled skin, Ambiguous genitalia, Abnormality of... ORPHA:920
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Short neck, Mitral valve prolapse, Cutis laxa, Platyspondyly... OMIM:245600
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Scoliosis, Cardiomegaly OMIM:618143
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Cryptorchidism, Scoliosis, Annular ... OMIM:616975
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Micropenis, Scoliosis, Cryptorchidism ORPHA:364028
Lateral Meningocele Syndrome
Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Kyphosis, Cryptor... OMIM:130720
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance OMIM:608154
Desbuquois Dysplasia 2
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:615777
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia ORPHA:228123
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Mucosal telangiectasiae, Abnormal thymus morphology, Lumbar hemivertebrae, Cardiomegaly ORPHA:2463
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Micropenis OMIM:619718
Mandibuloacral Dysplasia With Type A Lipodystrophy
Prematurely aged appearance, Progeroid facial appearance, Hyperlipidemia, Lack of skin elasticity... ORPHA:90153
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... OMIM:614921
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Classical Ehlers-Danlos Syndrome
Striae distensae, Prematurely aged appearance, Poor wound healing, Cervical insufficiency, Mitral... ORPHA:287
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... OMIM:154230
Aicardi-Goutières Syndrome
Cutis marmorata, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Dry skin, Chronic lymphatic ... ORPHA:51
Perrault Syndrome 4
Hypoplasia of the uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Bico... OMIM:615300
Okamoto Syndrome
Redundant neck skin, Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventric... ORPHA:2729
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop... OMIM:620306
Satoyoshi Syndrome
Hypoplasia of the uterus, Mildly elevated creatine kinase OMIM:600705
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Abnormal heart morphology, Mitral valve... ORPHA:363700
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Atrial septal defect, Scoliosis OMIM:617190
Atypical Werner Syndrome
Prominent superficial veins, Hypertriglyceridemia, Prematurely aged appearance, Telangiectasia of... ORPHA:79474
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypogonadism, Pancreatitis, Progeroid facial appearance ORPHA:412057
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Cryptorchidism, Ky... OMIM:616894
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis OMIM:617061
Short Syndrome
Excessive wrinkled skin ORPHA:3163
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Coffin-Lowry Syndrome
Redundant skin, Kyphosis, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphol... ORPHA:192
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Mildly elevated creatine kinase OMIM:620351
Familial Aortic Dissection
Cutis marmorata, Cardiomegaly ORPHA:229
Seckel Syndrome
Prematurely aged appearance, Scoliosis ORPHA:808
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short neck, Kyphosis, Hypogonadism, Scoliosis, Decreased testicular size ORPHA:85293
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Left atrial enlargement, Progeroid facial appearance, Scoliosis, Dry... OMIM:614008
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Extrahepatic portal hypertension, Rectocele, Hepatic arteriovenous malf... ORPHA:2929
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Scoliosis OMIM:161200
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Scoliosis, Short neck OMIM:301041
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Lumbar hyperlordosis, Scoliosis ORPHA:522077
Complete Atrioventricular Septal Defect
Hepatomegaly, Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septa... ORPHA:1329
Prader-Willi Syndrome
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:176270
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Redundant skin, Progeroid facial appearance, Cutis laxa, Hypoplasia of the thym... OMIM:613177
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Sandhoff Disease
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:2614
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Kyphosis, Cryptorchidism, Abnormal circulating creatine kinase concentration, Scol... ORPHA:2215
Trisomy 20P
Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebr... ORPHA:261318
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Short neck, Bone marrow hypocellularity, Aplasia of the uterus, Micropenis, A... OMIM:614083
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Abnormal form of th... ORPHA:581
Alkaptonuria
Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification... OMIM:203500
Tetrasomy 9P
Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pachygyria, Polymicrogyria ORPHA:3310
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Parotitis, Elevated ... OMIM:256040
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Hajdu-Cheney Syndrome
Hepatomegaly, Mitral stenosis, Ventricular septal defect, Hypospadias, Short neck, Hypoplastic 5t... ORPHA:955
Mucolipidosis Type Ii
Abnormal mitral valve morphology, Splenomegaly, Kyphosis, Hepatosplenomegaly, Cardiomyopathy, Abn... ORPHA:576
Truncus Arteriosus
Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal hear... ORPHA:3384
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anem... OMIM:274000
Ramon Syndrome
Enlarged labia minora, Angiokeratoma, Kyphosis, Telangiectasia, Scoliosis OMIM:266270
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Kyphosis, ... ORPHA:79329
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Ectodermal dysplasia, Hypospadias OMIM:609944
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Scoliosis OMIM:250420
Cohen Syndrome
Ventricular septal defect, Cryptorchidism, Kyphosis, Mitral valve prolapse, Scoliosis, Neutropenia ORPHA:193
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Prematurely aged appearance, Progeroid facial appearance ORPHA:90154
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis, Mitral valve prolapse OMIM:177850
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Micropenis... OMIM:619005
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Prematurely aged appearance, Scoliosis OMIM:601812
Cerebrotendinous Xanthomatosis
Abnormality of the vertebral spinous processes, Prematurely aged appearance, Abnormal atrial sept... ORPHA:909
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Kyphosis, Male urethral meatus stenosis, Scoliosis, Atria... ORPHA:464738
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis ORPHA:702
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cutis marmorata, Bicuspid aortic valve, Cardiomegaly, Scoliosis, Bruising susceptibility ORPHA:91387
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Kyphosis, Splenomegaly, Lon... ORPHA:744
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Ventricular septal defect, Hypospadias, Precoc... OMIM:194190
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis, Micropenis ORPHA:500055
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism, Progeroid facial appearance OMIM:300578
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Scoliosis, ... ORPHA:140
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Micropenis, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:457359
Histiocytoid Cardiomyopathy
Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Pallor ORPHA:137675
Autosomal Recessive Robinow Syndrome
Sacral dimple, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... ORPHA:1507
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, S... ORPHA:251014
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Kyphosis, Adenoma ... ORPHA:201
Mend Syndrome
Sacral dimple, Kyphosis, Cryptorchidism, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol... ORPHA:401973
Frank-Ter Haar Syndrome
Redundant neck skin, Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphosc... OMIM:249420
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Complete atrioventricular canal defect, Hypercalcemia, Scoliosis ORPHA:476126
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body, Hypocalcemia OMIM:618476
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Scoliosis, Aplasia of the uterus, Unicornuat... OMIM:614527
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Progeroid facial appearance OMIM:617763
Aspartylglucosaminuria
Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Angiokeratoma corporis diffusum, Platyspondyly, S... OMIM:208400
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Bruising susceptibility, Striae distensae OMIM:610489
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... ORPHA:96191
Atelis Syndrome 2
Sacral dimple, Kyphosis, Supravalvar pulmonary stenosis, Anemia, Pulmonic stenosis, Thrombocytopenia OMIM:620185
Scleromyxedema
Aged leonine appearance, Generalized abnormality of skin, Elevated circulating creatine kinase co... ORPHA:167635
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Absence of labia majo... OMIM:265000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Scoliosis ORPHA:457284
Marden-Walker Syndrome
Abnormal penis morphology, Ventricular septal defect, Dextrocardia, Hypospadias, Situs inversus t... ORPHA:2461
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Hypercholesterolemia, Scoliosis ORPHA:2479
Sponastrime Dysplasia
Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Precocious puberty, Hyperconvex vertebral body... ORPHA:93357
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Hypospadias, Cutis marmorata... ORPHA:818
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Kyphosis, Cryptorchidism, Abno... ORPHA:1606
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Hypospadias, Kyphosis, Cryptorchidism, Micropenis, Posterior pituitary... ORPHA:464311
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Fragile skin, Cardiomegaly ORPHA:158687
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal heart valve morphology, Hypospadias, Kyphosis, Cryptorchidism, Abnormalit... ORPHA:280
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Kyphosis, Hypogonadism, Scoliosis, Decreased testicular size ORPHA:261349
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Urticaria, Cutaneous photosensitivity, Prematurely aged appearance, Dry skin ORPHA:220295
Branchioskeletogenital Syndrome
Abnormality of the vertebral spinous processes, Absent nipple, Thoracolumbar kyphoscoliosis, Shor... ORPHA:1299
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test,... ORPHA:1855
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... ORPHA:785
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Lymphopenia, Rectovaginal fistula OMIM:619708
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormal mitral valve morphology, Kyphosis, Scoliosis ORPHA:1969
Monosomy 9Q22.3
Ovarian fibroma, Short neck, Kyphosis, Cardiac fibroma, Abnormality of the vertebral column ORPHA:77301
Cdags Syndrome
Kyphosis, Hypospadias, Rectovaginal fistula OMIM:603116
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Ectodermal dysplasia, Periorbital wrinkles, Hypoplastic nipples, Dry skin OMIM:614941
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Decreased adipose tissue around neck, Prominent superficial veins, Progeroid faci... OMIM:608612
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis ORPHA:88628
Poland Syndrome
Hypospadias, Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae, Acute leukemia, V... ORPHA:2911
Rett Syndrome
Kyphosis, Scoliosis OMIM:312750
Jaberi-Elahi Syndrome
Kyphosis, Scoliosis OMIM:617988
Phocomelia, Schinzel Type
Hypoplasia of penis, Short neck, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Aplasia of the... ORPHA:2879
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:607778
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre... ORPHA:90794
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... ORPHA:3042
Branchiooculofacial Syndrome
Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Premature... OMIM:113620
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Anterior pituitary hypoplasia, Hypospadias, Kyphosis, Cryptorchidism, ... ORPHA:464306
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... OMIM:261740
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Beckwith-Wiedemann Syndrome
Hepatomegaly, Redundant skin, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly,... ORPHA:116
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Weaver Syndrome
Kyphosis, Cryptorchidism, Cutis laxa, Hydrocele testis, Scoliosis OMIM:277590
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... OMIM:259770
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Hypospadias, Redundant skin, Prematurely aged appearance, Telang... ORPHA:286
Pierson Syndrome
Hypoproteinemia OMIM:609049
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Marshall-Smith Syndrome
Thoracic scoliosis, Ventricular septal defect, Kyphoscoliosis, Bilateral cryptorchidism, Hypoplas... OMIM:602535
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... ORPHA:69085
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Hypoplasia of the uterus, Ch... OMIM:309801
Congenital Tracheomalacia
Cyanosis, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abn... ORPHA:95430
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Ventricular septal defect, Decreased response to growth hormone stimulation test, ... ORPHA:268261
Xeroderma Pigmentosum, Complementation Group B
Cutaneous photosensitivity, Hypogonadism, Progeroid facial appearance OMIM:610651
Loeys-Dietz Syndrome
Striae distensae, Bruising susceptibility, Scoliosis, Uterine rupture ORPHA:60030
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:224900
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... OMIM:130050
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... OMIM:236680
Classic Homocystinuria
Hepatomegaly, Kyphosis, Urticaria, Scoliosis, Subcutaneous hemorrhage ORPHA:394
Coffin-Siris Syndrome 1
Sacral dimple, Ventricular septal defect, Hypospadias, Cutis marmorata, Kyphosis, Cryptorchidism,... OMIM:135900
Iniencephaly
Absent vertebra, Hyperlordosis ORPHA:63259
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Mitral valve prolapse, Tricuspid valve prolapse, A... OMIM:618371
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... ORPHA:79280
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Mend Syndrome
Sacral dimple, Redundant neck skin, Kyphosis, Cryptorchidism, Aortic valve stenosis OMIM:300960
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Kyphosis, Premature graying of hair, Cardiomyopathy, Scoliosis, Cutan... ORPHA:90324
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous photosensitivity, Cutaneous t... OMIM:615919
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... OMIM:609441
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Scoliosis OMIM:618493
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Absence Of The Pulmonary Artery
Cyanosis, Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial sep... ORPHA:980
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Elevated hemoglobin A1c, Progeroi... OMIM:619127
Lymphedema-Distichiasis Syndrome
Kyphosis, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis OMIM:300966
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies ORPHA:2769
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesi... OMIM:201750
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Lumbar hyperlordosis, Kyphoscoliosis, Hemivertebrae, Abnormal heart morpholog... ORPHA:500150
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Keppen-Lubinsky Syndrome
Progeroid facial appearance, Lack of facial subcutaneous fat, Scoliosis OMIM:614098
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypoplastic sweat glands, Hyperlordosis ORPHA:73223
Acromegaly
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Kyphosis, Wide ... ORPHA:963
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Somatomammotropinoma
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Kyphosis, Pitui... ORPHA:314769
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Re... OMIM:304150
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Neu-Laxova Syndrome 1
Ventricular septal defect, Short neck, Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue c... OMIM:256520
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Kyphosis, Cryptorchidism, Skin ulcer, Anemia, A... ORPHA:534
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ky... OMIM:309000
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Coffin-Lowry Syndrome
Cutis marmorata, Kyphosis, Lumbar kyphosis, Cutis laxa, Scoliosis, Uterine prolapse, Acrocyanosis OMIM:303600
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... ORPHA:1677
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypopl... ORPHA:3472
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormality of the Leydig cells, Testicula... ORPHA:3063
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Scoliosis OMIM:619194
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Osteogenesis Imperfecta
Abnormal endocardium morphology, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abn... ORPHA:666
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Aplasia/Hypoplastia of the eccrine sweat glands, Hypohidrotic ectodermal dysplasia... OMIM:305100
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Increased circulating gonadotropin level OMIM:110100
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Pilonidal sinus, Small scrotum, Hypospadias, Short neck, Cryptorchidism, Hemivertebrae, Anteriorl... OMIM:276820
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis OMIM:618050
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bifid scrotum, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Kyphosis... OMIM:619475
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Short neck, Kyphosis, Increased circulating gonadotropin level, Biliary ci... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Short neck, Kyphosis, Increased circulating gonadotropin level, Biliary ci... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Short neck, Kyphosis, Increased circulating gonadotropin level, Biliary ci... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Short neck, Kyphosis, Increased circulating gonadotropin level, Biliary ci... ORPHA:881
Zttk Syndrome
Absent gallbladder, Ventricular septal defect, Kyphosis, Hemivertebrae, Scoliosis, Atrial septal ... OMIM:617140
Cerebrocostomandibular Syndrome
Kyphosis, Ventricular septal defect ORPHA:1393
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Precocious puberty, Kyphosis, Abnormal heart morphology, Hypertrophic... ORPHA:97685
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Kyphosis ORPHA:521426
Marfan Syndrome
Mitral valve calcification, Kyphosis, Mitral valve prolapse, Scoliosis, Striae distensae, Spondyl... ORPHA:558
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Hypospadias ORPHA:85199
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cyanosis, Cardiomegaly, Pericardial effusion, Myocardial calcification, ... ORPHA:51608
Peters-Plus Syndrome
Hypoplasia of the vagina, Ventricular septal defect, Bilobate gallbladder, Hypospadias, Short nec... OMIM:261540
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Scoliosis, Subvalvular aort... OMIM:182250
Peters Plus Syndrome
Sacral dimple, Hypospadias, Short neck, Cryptorchidism, Bicuspid pulmonary valve, Hypoplasia of t... ORPHA:709
Occipital Horn Syndrome
Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis, Bruising susceptibility ORPHA:198
Neurofibromatosis Type 1
Precocious puberty, Kyphosis, Cryptorchidism, Chronic myelogenous leukemia, Pheochromocytoma, Sco... ORPHA:636
Sotos Syndrome
Sacrococcygeal teratoma, Ventricular septal defect, Hypercalcemia, Hypospadias, Phimosis, Cryptor... ORPHA:821
Kid Syndrome
Scaling skin, Progeroid facial appearance ORPHA:477
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... OMIM:107480
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Bicuspid aortic valve, Hypospadias, Kyphoscoliosis, Cryptorchidism, Scoliosis OMIM:309800
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Cryptorchidism, Erythema, Urticaria, Platyspondyly, Abnormality of the vertebral column... ORPHA:2273
Stickler Syndrome
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Mitral valve prolapse, Pl... ORPHA:828
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular fibrosis, Irregular men... ORPHA:64
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Norrie Disease
Cryptorchidism, Scoliosis, Uterine rupture ORPHA:649
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Viss Syndrome
Prominent superficial blood vessels, Ventricular septal defect, Coronary sinus enlargement, Kypho... OMIM:619472
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Pallister-Killian Syndrome
Sacral dimple, Small scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Kypho... OMIM:601803
Yunis-Varon Syndrome
Absent nipple, Ventricular septal defect, Anterior concavity of thoracic vertebrae, Hypospadias, ... OMIM:216340
Primrose Syndrome
Hypergonadotropic hypogonadism, Elevated circulating alpha-fetoprotein concentration, Bilateral c... OMIM:259050

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 Prss21

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 Prss21.

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

Title Journal IMPC Allele PubMed ID
Testisin/Prss21 deficiency causes increased vascular permeability and a hemorrhagic phenotype during luteal angiogenesis. PloS one (June 2020) Prss21tm1a(KOMP)Wtsi PMC7279603

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MGI Allele Allele Type Produced
Prss21tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Prss21em1(IMPC)Ccpcz Exon Deletion Mice
Prss21tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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