banner
Genes Phenotypes Help, News, Blog

Gene: Ewsr1 MGI:99960

Log in to follow

Gene Summary

Name:
Ewing sarcoma breakpoint region 1
Synonyms:
Ews

Order Alleles

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
increased grip strength Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 2.40×10-05
increased lymphocyte cell number Ewsr1tm1b(EUCOMM)Wtsi HET   Early adult 8.18×10-05
hyperactivity Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 9.14×10-06
edema Ewsr1tm1b(EUCOMM)Wtsi HOM E15.5 0.00
increased leukocyte cell number Ewsr1tm1b(EUCOMM)Wtsi HET   Early adult 1.73×10-05
edema Ewsr1tm1b(EUCOMM)Wtsi HET E15.5 0.00
preweaning lethality, complete penetrance Ewsr1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating alkaline phosphatase level Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 3.20×10-05
short tibia Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 2.80×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 33.33% (2 of 6)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 33.33% (2 of 6)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (6 of 6)
Embryo N/A homozygote 100% (3 of 3)
Eye N/A heterozygote 33.33% (2 of 6)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 33.33% (2 of 6)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 33.33% (2 of 6)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 33.33% (2 of 6)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 33.33% (2 of 6)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 33.33% (2 of 6)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 33.33% (2 of 6)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 33.33% (2 of 6)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 33.33% (2 of 6)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 33.33% (2 of 6)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 33.33% (2 of 6)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 33.33% (2 of 6)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 33.33% (2 of 6)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 33.33% (2 of 6)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 33.33% (2 of 6)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 33.33% (2 of 6)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 33.33% (2 of 6)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 33.33% (2 of 6)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Gross Pathology and Tissue Collection

Images

8 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Embryo LacZ

LacZ images wholemount

36 Images

View images
Download thumbnail Download
Immunophenotyping

Panel A FCS file(s)

6 Images

View images
Download thumbnail Download
Immunophenotyping

Panel B FCS file(s)

6 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images
Eye Morphology

Images Ophthalmoscopy

1 Images

View images
Combined SHIRPA and Dysmorphology

Images

1 Images

View images
X-ray

XRay Images Hind Leg and Hip

1 Images

View images
Histopathology

Images

1 Images

View images

Human diseases caused by Ewsr1 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.

The table below shows human diseases associated to Ewsr1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Anemia, Hepatomegaly, Lymphadenopathy, Testicular neo... ORPHA:83469
Ewing Sarcoma
OMIM:612219

The table below shows human diseases predicted to be associated to Ewsr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali... ORPHA:261529
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Congenital hip dislocation, Flattened femoral head, Delayed femoral head ossificati... ORPHA:168621
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Mirage Syndrome
Anemia, Hypospadias, Radial club hand, Scoliosis, Adrenal hypoplasia, Decreased body weight, Hype... OMIM:617053
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Abnormality of the ovary, Kyphosis, Decreased testicular size, Hypogonadism, ... ORPHA:1875
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Osteoporosis, Female infertility, Primary ameno... OMIM:300604
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
46,Xx Gonadal Dysgenesis
Abnormality of secondary sexual hair, Gonadal dysgenesis, Premature ovarian insufficiency, Reduce... ORPHA:243
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Kyph... ORPHA:2232
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility, Decreased cirrculating antimullerian hormone circulation, Bila... OMIM:261550
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Schizophrenia 15
Hyperactivity OMIM:613950
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Smith-Magenis syndrome
Hyperactivity, Brachydactyly, Self-mutilation, Motor stereotypy DECIPHER:8
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymu... OMIM:300400
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced bone minera... ORPHA:2235
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hirsutism, Hypergonadotro... OMIM:300510
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
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 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Fraxe Intellectual Disability
Agitation, Clinodactyly of the 5th finger, Hyperactivity, Recurrent hand flapping, Compulsive beh... ORPHA:100973
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he... ORPHA:543
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Aromatase Deficiency
Osteopenia, Male infertility, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Enla... ORPHA:91
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Absent pubic hair, Hypoplasia of the ovary, Decreased circulating gonadotropin c... OMIM:614841
Satoyoshi Syndrome
Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Hyperlordosis, Abn... ORPHA:3130
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Lymphatic Malformation 3
Lymphedema OMIM:613480
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hyperlordosis, Kyphosis, Hypergonadotropic hypogonadism, ... ORPHA:3085
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Infertility, Osteoporosis, Female hypogonadism, Oligomenorr... ORPHA:397685
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 17
Male infertility OMIM:617214
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Spermatogenic Failure 5
Macrozoospermia, Male infertility, Multiflagellar spermatozoa OMIM:243060
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Ataxia-Telangiectasia
Delayed puberty, Abnormal hair morphology, Abnormal spermatogenesis, Hypoplasia of the thymus, T ... OMIM:208900
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Gracile Bone Dysplasia
Decreased skull ossification, Asplenia, Short stature, Failure to thrive, Hypoplastic spleen, Mic... OMIM:602361
White Sponge Nevus 2
Edema OMIM:615785
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Failure to th... OMIM:603554
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Fetal Akinesia Deformation Sequence 4
Camptodactyly, Kyphosis, Arthrogryposis multiplex congenita, Neonatal death, Skeletal muscle atro... OMIM:618393
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis, Joint contracture, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:611225
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Inguinal hernia, Panniculitis, Hypo... OMIM:612541
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency, Subperiosteal bone formation, Osteoscle... OMIM:609993
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Cervical spinal canal stenosis, Hypoplasia of the prostate, Scoliosis, Kyphosis,... OMIM:301900
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Progesterone Resistance
Female infertility OMIM:264080
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Ataxia-Telangiectasia
Premature graying of hair, Delayed puberty, Hypopigmentation of hair, Abnormal testis morphology,... ORPHA:100
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Scoliosis, Rimmed vacuoles, Short stature, Failure to thrive, Ce... OMIM:619518
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Kyphosis, Arthrogryposis multiplex congenita, Increased variability in... OMIM:618484
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Peroxisome Biogenesis Disorder 2A (Zellweger)
Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the ... OMIM:214110
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Immunodeficiency 9
Amelogenesis imperfecta, Abnormal natural killer cell count, Hypoplasia of the thymus, Failure to... OMIM:612782
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb muscle weakness, Scoliosis, Hyperlordosis, Elbow flexion contracture, Spinal mu... OMIM:600175
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Inguinal hernia, Bicornuate uterus, Short... OMIM:601186
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Alopecia of scalp, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Failur... OMIM:602450
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
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
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Increased serum testosterone level, Facial hirsutism, Ab... ORPHA:247768
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Impotence, Osteoporosis, Diabetes... OMIM:235200
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Acute rhabdomyolysis, Flexion contracture of toe, Scoliosis, Kyphosis, Finger joint contracture, ... ORPHA:48431
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Short stature, Elevated circulating follicle stimulating hormone ... OMIM:614129
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Abnormal circulating ... ORPHA:280356
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Abnormal hair morphology, Oligozoospermia, Precocious puberty, Macr... ORPHA:3000
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Lipoatrophy, Alopecia of scalp, Reduced bone mineral density, Abnormal... ORPHA:2617
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Bruxism, Hip dislocation, Short foot, Talipes equinovarus, Small hand OMIM:300434
Kennedy Disease
Erectile dysfunction, Type II diabetes mellitus, Skeletal muscle atrophy, Decreased fertility, Te... ORPHA:481
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Facial diplegia, Kyphosis, Arthrogryposis multiplex congenita, Neonatal death, Skeleta... OMIM:611890
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Low posterior hairline, Hypospadias, A... ORPHA:1772
Lymphatic Malformation 10
Lymphedema OMIM:619369
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
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
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Severe short stature, Flexion contracture, Short neck OMIM:168400
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Scoliosis, Kyphosis, Arthrogryposis multiplex congenita, Flexion contracture, ... ORPHA:178148
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Abnormal cellular immune system morphology, Bifid scrotum, Abnor... ORPHA:199310
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Xp22.3 Microdeletion Syndrome
Sacral dimple, Secondary amenorrhea, Short stature, Polycystic ovaries, Decreased fertility, Hypo... ORPHA:1643
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Decreased libido, Joint stiffness, Splenomegaly, Hepatocellular carcinoma, ... ORPHA:465508
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Scoliosis, Abnormal testis morphology, Kyphosis, Joint stiffness ORPHA:1548
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Kyphosis, Short stature, Increased serum serotonin, Small for gestational age ORPHA:85288
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Obesity, Abnormality of the uterus, Stre... OMIM:194072
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Hypoplasia of penis, Kyphosis, Osteoporosis, Short stature, Camptodac... ORPHA:3409
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Joint contracture of the 5th finger, Highly arched eyebrow, Scoliosis, Kyphosis,... ORPHA:352490
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Mcdonough Syndrome
Cachexia, Scoliosis, Kyphosis, Synophrys, Short stature, Aplasia/Hypoplasia of the abdominal wall... ORPHA:2471
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma... ORPHA:3344
Roifman Syndrome
Postnatal growth retardation, Biconvex vertebral bodies, Lymphadenopathy, Short stature, Delayed ... ORPHA:353298
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hypospadias, Kyphosis, Decreased testicular size, Short stature, Hypogonadism, A... OMIM:300354
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Slc35A2-Cdg
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Increased circulating thyrog... ORPHA:356961
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Generalized limb muscle atrophy, Anemia, Scoliosis, Distichiasis, Kyphosis, Myop... ORPHA:2598
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m... OMIM:618433
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Scoliosis, Kyphosi... OMIM:615381
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Inguinal hernia, Delayed ossification of carpal bones, Decreased bo... OMIM:618392
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Short stature, Hypoplastic spleen, Thrombocytopenia, Myopathy OMIM:185070
Bethlem Myopathy 2
Distal joint hypermobility, Scoliosis, Atrophic scars, Scapular winging, Kyphosis, Increased vari... OMIM:616471
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Decreased fertility, Testicular atrophy, Limb muscle weakness OMIM:313200
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno... OMIM:617514
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Reduced bon... ORPHA:90796
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Cryptorchidism, Kyphosis OMIM:618512
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Scoliosis, Kyphosis, Generalized amyotrophy, Flexion contracture, Joint hypermob... OMIM:618323
Schaaf-Yang Syndrome
Scoliosis, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita, Short stature, Obesity, T... OMIM:615547
Marinesco-Sjogren Syndrome
Scoliosis, Rimmed vacuoles, Kyphosis, Hypergonadotropic hypogonadism, Short stature, Failure to t... OMIM:248800
Bone Marrow Failure Syndrome 5
Nail dystrophy, Anemia, Erythroid hypoplasia, Short stature, Pure red cell aplasia, Growth delay,... OMIM:618165
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Disproportionate short stature, Abnormal form of the vertebral bodie... ORPHA:40
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Sandhoff Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Kyphosis ORPHA:796
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Frasier Syndrome
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... ORPHA:347
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnormal B cell count, Weight ... ORPHA:100024
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Splenomegaly, Lymphopenia OMIM:619164
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Lethal Congenital Contracture Syndrome 10
Stiff neck, Torticollis, Hypoplasia of the thymus, Omphalocele, Increased variability in muscle f... OMIM:617022
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... ORPHA:79106
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Postnatal growth retardation, Decreased response to growth hormo... ORPHA:94065
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Dyskeratosis Congenita, Autosomal Recessive 2
Nail dystrophy, Cirrhosis, Pancytopenia, Growth delay, Bone marrow hypocellularity, Thrombocytope... OMIM:613987
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Lower limb amyotrophy, Scoliosis, Kyphosis, Upper limb amyotrophy, Foot dorsiflexor weakness OMIM:617087
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Distal lower limb muscle weakness, Lower limb amyotrophy, Scoliosis, Hyperlordosis, Scapular wing... OMIM:615290
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Hypocalcemia, Short ribs, Short humerus, Short ... OMIM:607143
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Decreased mitochondrial number, Ragged-red muscle fibers, Kyphosis, Hypergonadot... ORPHA:352447
Aarskog-Scott Syndrome
Delayed puberty, Inguinal hernia, Hyperextensibility of the finger joints, Scoliosis, Bilateral c... OMIM:305400
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Rimmed vacuoles, Kyphosis, Increased variability in mu... OMIM:300718
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 75
Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormone level, Male inf... OMIM:619949
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Scoliosis, Increased adipose tissue, Hyperlordosis, Kyphosis, Short stature, Pro... OMIM:617404
Syndromic Diarrhea
Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Inguinal hernia, Brittle hair, Hypopigmentation of... ORPHA:84064
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, ... OMIM:609981
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar... ORPHA:1106
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Kyphosis, Osteoporosis, Short stature, Flexion contracture, Spleno... ORPHA:87876
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Splenomegaly, Hepatic steatosis, Myopathy, Secondary amenorrhea, Loss of subcutaneou... ORPHA:79083
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... OMIM:308240
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Ragged-red muscle fibers, Facial palsy, Kyphosis, Hypergonadotropic hypogonadism... OMIM:615084
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Abnormality of the pancreas, Hepatomegaly, Abnormality of th... ORPHA:400
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Neonatal death, Flexion contracture, Intrauterine growth retardation... OMIM:618237
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Scoliosis, Kyphosis, Short stature, Obesity, Foot dorsiflexor we... OMIM:618124
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Decreased skull ossification, Omph... OMIM:601163
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Osteopenia, Central diabetes insipidus, Non-caseating epithelio... ORPHA:227990
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Hepatocell... ORPHA:79240
Winchester Syndrome
Carpal osteolysis, Hirsutism, Kyphosis, Generalized osteoporosis, Osteolysis involving tarsal bones OMIM:277950
Immunodeficiency 27A
Anorexia, Anemia, Leukocytosis, Hypoplasia of the femoral head, Hepatosplenomegaly, Splenomegaly,... OMIM:209950
Mccune-Albright Syndrome
Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Monostotic fibrou... ORPHA:562
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Woodhouse-Sakati Syndrome
Osteopenia, Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of... ORPHA:3464
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Osteopenia, Intervertebral space narrowing, Scoli... OMIM:271530
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Rudiger Syndrome
Inguinal hernia, Bicornuate uterus, Ovarian cyst, Flexion contracture, Micropenis OMIM:268650
Difference Of Sex Development-Intellectual Disability Syndrome
Reduced bone mineral density, Spina bifida occulta, Hypoplasia of penis, Kyphosis, Low posterior ... ORPHA:2983
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Osteopenia, Central diabetes insipidus, Non-caseating epithelio... ORPHA:227982
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Rectovaginal fistula, Hypoplasia of penis, Abnormality of the ... ORPHA:861
Ruvalcaba Syndrome
Limited elbow extension, Delayed puberty, Inguinal hernia, Scoliosis, Kyphosis, Short stature, Cr... OMIM:180870
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, Hypospadias, Microvesicular hepatic steatosis, Decreased testicular... OMIM:610198
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Precocious puberty in females, Hyperinsulinemia, S... ORPHA:528
Pearson Syndrome
Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Pancreatic fibrosis, Hepatic steatosi... ORPHA:699
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fiber size, Secondary ame... ORPHA:2348
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Hyperostosis, Abnormal eosinophil morphology, Arthritis, Hypoplasia of th... ORPHA:906
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Camptodactyly, Kyphosis OMIM:618453
Diastrophic Dysplasia
Neonatal short-limb short stature, Abnormal form of the vertebral bodies, Increased bone mineral ... ORPHA:628
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Premature ovarian insufficiency, Nail dystrophy, Hypoparathyroidism, Cholelithiasis, Chronic acti... OMIM:240300
Osteomesopyknosis
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... ORPHA:2777
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Kyphosis, Hypogonadism, Hypothalamic luteinizing ho... ORPHA:398069
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Hypospadias, Abnormal intervertebral disk morphology, Abnormal f... ORPHA:2311
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Torticollis, Scoliosis, Elbow flexion contracture, EMG: myopathic abnormalities,... ORPHA:75840
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Hepatomegaly, Scoliosis, Kyphosis, Short stature, Splenomeg... OMIM:230650
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Shor... OMIM:620306
Fowler Urethral Sphincter Dysfunction Syndrome
Hirsutism, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Increased body weight, Abnormal erythro... ORPHA:264580
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Leukocytosis, Decreased testicular size, Short stature, Flexion contract... OMIM:619321
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Growth delay, Thrombocytopenia, Lymphopenia ORPHA:169079
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia, Severe short stature, Flexion contracture OMIM:619851
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Ankle flexion contracture, Foot joint contracture, Weakness of facial musculature... ORPHA:536516
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... OMIM:620076
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Cowden Syndrome 1
Thyroiditis, Scoliosis, Kyphosis, Subcutaneous lipoma, Hypothyroidism, Varicocele, Ovarian cyst, ... OMIM:158350
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Abnormality of the ovary, Peritonitis, Gonadal calcification ORPHA:314473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Scoliosis, Hyperlordosis, Calf muscle hypertrophy, Facial palsy, Kyphosis, EM... OMIM:606612
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Failure to thrive, Hepatosplenomegaly, Lymphopenia, Abn... OMIM:242700
Camurati-Engelmann Disease
Abnormal subcutaneous fat tissue distribution, Delayed puberty, Hepatomegaly, Anemia, Abnormality... ORPHA:1328
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Proximal muscle weakness in upper limbs, Hepatomegaly, Loss of ... ORPHA:435660
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Scoliosis, Kyphosis, Frontal upsweep of hair, Cryptorchi... OMIM:619797
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Failure to thrive, Absence of lymph node germinal center, L... ORPHA:277
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Anemia of inadequate production, Impotence, Female hypogonadism, Hypogonadi... ORPHA:91349
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter, Female infertility OMIM:617577
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Clark-Baraitser syndrome
Scoliosis, Kyphosis, Obesity, Joint hypermobility, Macroorchidism OMIM:300602
Acute Monoblastic/Monocytic Leukemia
Anorexia, Ankle swelling, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochro... ORPHA:514
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hypospadias, Hyperlordosis, Kyphosis, Short stature, Short neck, Abnorm... ORPHA:2522
Immunodeficiency 102
Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De... OMIM:301082
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Becker Nevus Syndrome
Lipoatrophy, Spina bifida occulta, Scoliosis, Hypoplastic labia minora, Kyphosis, Shoulder girdle... ORPHA:64755
Yellow Nail Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153300
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Failure to thrive, Facial myokymia, Kyphosis OMIM:620007
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia, Intrauterine growt... OMIM:615966
Arthrogryposis, Distal, Type 4
Osteopenia, Torticollis, Camptodactyly of 2nd-5th fingers, Scoliosis, Low posterior hairline, Kyp... OMIM:609128
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, B lymphocytopenia, Arthritis, T lymphocytope... OMIM:601457
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Short stature, Obesity, Lumbar hyperlordosis OMIM:616756
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adreno... OMIM:610475
Cardiofacioneurodevelopmental Syndrome
Camptodactyly, Kyphosis, Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Digeorge Syndrome
Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Umbilical hernia, Hepatic steatosis, Ingu... OMIM:188400
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Arthritis, Failure to th... ORPHA:397596
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Failure to thrive, Neutropenia, Absent circulating B cells OMIM:613501
Cockayne Syndrome Type 2
Scarring, Hepatomegaly, Limb hypertonia, Scoliosis, Kyphosis, Cryptorchidism, Enamel hypoplasia, ... ORPHA:90322
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar scoliosis, Hip contracture, Seve... OMIM:313420
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Decreased testicular size, Shawl scrotum, Cryptorchidism, Micropenis OMIM:615433
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Decreased response to growth... OMIM:618223
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal liver lobulation, Abnormal fallopian tube morphol... ORPHA:99776
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Limb-girdle muscular dystrophy, Myopat... ORPHA:98855
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Splenomegaly, Umbilical hernia, Joint hypermobility, Intrauteri... ORPHA:567
Leopard Syndrome 1
Kyphoscoliosis, Limited elbow movement, Delayed puberty, Hypospadias, Spina bifida occulta, Hypop... OMIM:151100
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Primary testicular failure, Anemia, Lymphadenopathy, Abnormal lym... ORPHA:85450
Pelger-Huet Anomaly
Giant platelets, Kyphosis, Hyposegmentation of neutrophil nuclei, Lower limb hypertonia, Failure ... OMIM:169400
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Prader-Willi Syndrome
Delayed puberty, Kyphosis, Small scrotum, Intrauterine growth retardation, Adrenal insufficiency,... OMIM:176270
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Inguinal hernia, Accessory spleen, Tracheomalacia, Morgagni diaphragmatic hernia, Adr... OMIM:613177
Wolfram Syndrome 1
Diabetes insipidus, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Growth delay, Thr... OMIM:222300
Donohue Syndrome
Postnatal growth retardation, Clitoral hypertrophy, Hyperinsulinemia, Severe failure to thrive, L... OMIM:246200
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Anemia, Abnormal form of the vertebral bodies, Bone cyst, Scoliosis, Kyphosis, Bilateral cryptorc... ORPHA:3042
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Long eyelashes, Low anterior hairline, Thick eyebrow, Flexion co... OMIM:618658
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Hypoplasia of penis, Cachexia, Scoliosis, Kyphosis, Synophrys, Decreased testicu... ORPHA:85293
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis, Osteoporosis, Failure to thr... OMIM:618234
Alpha-Mannosidosis
Hepatomegaly, Inguinal hernia, Craniofacial hyperostosis, Arthritis, Scoliosis, Synostosis of joi... ORPHA:61
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Proteus-Like Syndrome
Hyperostosis, Shagreen patch, Splenomegaly, Thymus hyperplasia, Subcutaneous lipoma, Polycystic o... ORPHA:2969
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Scoliosis, Atrophic scars, Premature osteoarthritis, Kyphosis, Contracture of the pro... OMIM:130060
X-Linked Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Limb-girdle muscular dystrophy, Myopat... ORPHA:98863
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Hypoplasia of penis, Slow-growing hair, Uncombable hair, Kyphosis, Shor... ORPHA:3082
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Skeletal muscle hypertro... ORPHA:435651
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Osteoporosis, Kyphosis, Short stature, Platyspondyly, Albinism ORPHA:2786
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F... OMIM:616300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Highly arched eyebrow, Scoliosis, Kyphosis, Short stature, Thick eyebrow, Umbili... OMIM:615834
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Primary Ciliary Dyskinesia
Male infertility, Asplenia, Abnormal sperm motility, Female infertility, Polysplenia ORPHA:244
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Infertility, Kyphosis, Limb muscle weakness, Lower limb muscle weakness OMIM:614409
Myotonic Dystrophy 1
Frontal balding, Cholelithiasis, Facial diplegia, Hypogonadism, Testicular atrophy OMIM:160900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Lipoatrophy, Splenomegaly, Proximal upper limb muscle hypertrophy, Hep... ORPHA:280365
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Delayed puberty, Hypospadias, Bicoronal synostosis, Scoliosis, Kyphosis, Osteoporosis... OMIM:619718
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Spinal rigidity, Reduced muscle collagen VI, Torticollis, Distal joint hyperm... OMIM:254090
Noonan Syndrome 14
Limited elbow extension, Scapular winging, Low posterior hairline, Kyphosis, Curly hair, Short st... OMIM:619745
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Highly arched eyebrow, Bicoronal synostosis, Scoliosis, Kyphosis, Camptodac... OMIM:619951
Fanconi Anemia, Complementation Group A
Male infertility, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Short ... OMIM:227650
Marden-Walker Syndrome
Postnatal growth retardation, Hypospadias, Inguinal hernia, Scoliosis, Kyphosis, Camptodactyly, C... OMIM:248700
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, Sparse pubic hair, Female infertility, Am... OMIM:110100
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Scoliosis, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline OMIM:615761
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Severe postnatal growth retardation, Portal hypertension, Hypothyroidis... OMIM:620005
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Nail dystrophy, Alopecia of scalp, Rectal abscess, Peritoneal absces... ORPHA:436252
Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Limb-girdle muscular dystrophy, Myopat... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Limb-girdle muscular dystrophy, Myopat... ORPHA:98853
19P13.12 Microdeletion Syndrome
Hypospadias, Craniosynostosis, Scoliosis, Kyphosis, Synophrys, Precocious puberty, Arthrogryposis... ORPHA:254346
Gm1 Gangliosidosis
Inguinal hernia, Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Hirsutism, Kyph... ORPHA:354
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Scoliosis, Obesity, Kyphosis ORPHA:276630
Hall-Riggs Syndrome
Scoliosis, Kyphosis, Osteoporosis, Enamel hypoplasia, Failure to thrive, Irregular vertebral endp... OMIM:234250
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormal intervertebral disk morphology, Abnormal form of the ... ORPHA:2635
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Ragged-red muscle fibers, Facial palsy, EM... OMIM:157640
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Intrauterine growth retardation, Alopecia of scalp, Hypospadias, Increased serum tes... OMIM:264090
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Absent circulating B cells, Splenomegaly, Pancytopenia OMIM:620282
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypospadias, Scoliosis, Kyphosis... ORPHA:2075
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Failure to thrive, Thrombocytopenia, Lipodystrophy, Decreased... OMIM:618048
X-Linked Intellectual Disability Due To Gria3 Mutations
Facial hypotonia, Scoliosis, Kyphosis, Short stature, Slender build, Joint hypermobility, Abnorma... ORPHA:364028
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
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs... OMIM:150550
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Scapular winging, EMG: myopathic abnormalities, Kyphosis, Facial palsy,... OMIM:255200
Isolated Anencephaly
Congenital diaphragmatic hernia, Maternal diabetes, Adrenal hypoplasia, Omphalocele, Thymus hyper... ORPHA:563609
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Cellulitis, Leukopenia, Hepato... OMIM:618986
Flynn-Aird Syndrome
Bone cyst, Scoliosis, Cachexia, Kyphosis, Joint stiffness, Primary adrenal insufficiency, Skeleta... ORPHA:2047
Ruvalcaba Syndrome
Delayed puberty, Inguinal hernia, Abnormal vertebral epiphysis morphology, Scoliosis, Synostosis ... ORPHA:3121
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Scoliosis, Low posterior hairline, Kyphosis, Synophrys, Thick eyebrow, Truncal obesity ORPHA:2429
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Congenital muscular torticollis, Abnormal dental enamel mo... ORPHA:2916
Immunodeficiency 62
B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec... OMIM:618459
Harrod Syndrome
Hypospadias, Scoliosis, Kyphosis, Failure to thrive, Joint hypermobility, Cryptorchidism, Intraut... ORPHA:2115
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Biliary cirrhosis, Kyph... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Biliary cirrhosis, Kyph... ORPHA:99228
Monosomy X
Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Biliary cirrhosis, Kyph... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Delayed puberty, Reduced bone mineral density, Biliary cirrhosis, Kyph... ORPHA:881
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased testicular size, Central h... OMIM:616113
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Fraser Syndrome 2
Ambiguous genitalia, Low anterior hairline, Short neck, Hypoplasia of the thymus OMIM:617666
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
3M Syndrome
Increased vertebral height, Hypospadias, Abnormal dental enamel morphology, Scoliosis, Hyperlordo... ORPHA:2616
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Acute myeloid leukemia, Recurrent tonsillitis,... ORPHA:125
Ck Syndrome
Abnormal cortical bone morphology, Scoliosis, Hyperlordosis, Kyphosis, Slender build, Joint hyper... OMIM:300831
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Abnormal form of the vertebral bodies, Aplasia of the uterus, Ectopic ovary, Dyspa... ORPHA:3109
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Scoliosis, Kyphosis, Distal upper limb amyotrophy ORPHA:101075
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Metatropic Dysplasia
Kyphoscoliosis, Caudal appendage, Relatively short spine, Disproportionate short-limb short statu... OMIM:156530
Cohen Syndrome
Delayed puberty, Thick hair, Scoliosis, Abnormal eyelash morphology, Kyphosis, Long eyelashes, Sh... ORPHA:193
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Eec Syndrome
Decreased response to growth hormone stimulation test, Nail dystrophy, Hypospadias, Anterior hypo... ORPHA:1896
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, Thyroiditis, Patchy alopecia, T ... OMIM:606367
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Hypoplasia of penis, Hypoplasia of the ovary, Abnormality of the... ORPHA:110
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Cystic angiomatosis of bone, Elevated hemoglobin A1c, Splenomegaly, Umbilic... OMIM:269700
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Osteoarthri... ORPHA:2114
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Bardet-Biedl Syndrome 1
Truncal obesity, Hirsutism, Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased t... OMIM:209900
Hypophosphatemic Rickets, X-Linked Dominant
Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, Tibial bo... OMIM:307800
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... ORPHA:572333
Stormorken-Sjaastad-Langslet Syndrome
Short stature, Anemia, Asplenia ORPHA:3204
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Scoliosis, Kyphosis, Short stature, Failure to thrive, Overweight, Flexion contracture, Hypogonad... ORPHA:500055
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Hepatomegaly, Inguinal hernia, Vacuolated lymphocytes, Scoliosis, Ky... OMIM:230500
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Cdkl5-Deficiency Disorder
Growth delay, Scoliosis, Kyphosis, Synophrys ORPHA:505652
Autosomal Recessive Spastic Paraplegia Type 53
Joint hypermobility, Failure to thrive, Kyphosis, Upper limb hypertonia ORPHA:319199
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Cystic angiomatosis of bone, Splenomegaly, Umbilical hernia, Hepatic steato... OMIM:608594
Estrogen Resistance
Osteopenia, Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast ap... OMIM:615363
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Hirsutism, Kyphosis, Osteoporosis, Biconcave vertebral bodies, Ol... OMIM:219090
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Decreased response to growth hormone stimulation test, Prostatitis, Abnormal T c... OMIM:307200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Hepatomegaly, Fused cervical vertebrae, Cholelithiasis, Inguinal he... ORPHA:83617
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Genitourinary And/Or Brain Malformation Syndrome
Kyphoscoliosis, Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, ... OMIM:618820
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... OMIM:258315
Cowden Syndrome 6
Thyroiditis, Scoliosis, Kyphosis, Subcutaneous lipoma, Hypothyroidism, Varicocele, Ovarian cyst, ... OMIM:615109
Alg9-Cdg
Abnormal bone ossification, Hepatomegaly, Rhizomelia, Torticollis, Periportal fibrosis, Hypoplasi... ORPHA:79328
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Lipodystrophy... ORPHA:79085
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Premature ov... ORPHA:96179
Cowden Syndrome 5
Thyroiditis, Scoliosis, Kyphosis, Subcutaneous lipoma, Hypothyroidism, Ovarian cyst, Thyroid aden... OMIM:615108
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Trisomy 20P
Reduced bone mineral density, Abnormal form of the vertebral bodies, Highly arched eyebrow, Kypho... ORPHA:261318
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Pycnodysostosis
Decreased response to growth hormone stimulation test, Spondylolysis, Rhizomelia, Spondylolisthes... ORPHA:763
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, HbH hemoglobin, Postnatal growth retardation, Hypochromic microcytic anemia, Hypo... OMIM:301040
Micro Syndrome
Delayed puberty, Hypoplasia of penis, Scoliosis, Hypoplastic labia minora, Kyphosis, Clitoral hyp... ORPHA:2510
Trisomy 13
Scoliosis, Abnormal eyelash morphology, Intrauterine growth retardation, Kyphosis, Displacement o... ORPHA:3378
Bruck Syndrome 1
Ankle flexion contracture, Vertebral wedging, Scoliosis, Elbow flexion contracture, Kyphosis, Ost... OMIM:259450
Mucopolysaccharidosis, Type Vii
Kyphosis, Joint stiffness, Severe short stature, Splenomegaly, Anterior beaking of lower thoracic... OMIM:253220
Emanuel Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Torticollis, Inguinal hernia, Scoliosis, Kyphosis... OMIM:609029
Masa Syndrome
Short stature, Hyperlordosis, Kyphosis OMIM:303350
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Disproportionate short stature, Rhizomelia, Kyphosis, Neonatal death, Lumbar hyperlordosis, Sever... OMIM:616482
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Hepatomegaly, Abnormal fallopian tube morphology, Inguinal hernia, ... ORPHA:1655
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Scoliosis, Hirsutism, Kyphosis, Umbilical hernia, Camptodactyly of... OMIM:607015
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, 2-3 toe syndactyly, Motor stereotypy, Lymphopenia, Aggressive behavior ORPHA:391307
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia OMIM:616873
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... ORPHA:90795
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Growth delay, Coombs-positive hemolytic anemia, Thromboc... OMIM:614034
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Zimmermann-Laband Syndrome 2
Hirsutism, Kyphosis, Long eyelashes, Synophrys, Short stature, Thick eyebrow, Short neck, Macrogl... OMIM:616455
Lateral Meningocele Syndrome
Inguinal hernia, Scoliosis, Kyphosis, Biconcave vertebral bodies, Short stature, Decreased muscle... OMIM:130720
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, T lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Bloom Syndrome
Postnatal growth retardation, Azoospermia, Growth delay, Elevated hemoglobin A1c, Hypertrichosis,... OMIM:210900
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Medial flaring of the eyebrow, Hypospadias, Scoliosis, Kyphosis,... OMIM:617602
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Cockayne Syndrome A
Kyphosis, Splenomegaly, Hypogonadism, Sparse hair, Intrauterine growth retardation, Short stature... OMIM:216400
Schinzel-Giedion Syndrome
Kyphoscoliosis, Stiff elbow, Annular pancreas, Hypospadias, Inguinal hernia, Scoliosis, Generaliz... ORPHA:798
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Hyperactivity, Abnormal femoral head morphology, Short long bone, L... ORPHA:239
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Highly arched eyebrow, Scoliosis, Decreased body weight, Kyphosis, Long eyelashes, ... OMIM:619005
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Kyphosis, Hypothyroidism, Abnormal sacrum ... ORPHA:324737
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Osteopetrosis, Anemia, Increased bone mineral density, Cortical scl... OMIM:620366
Osteogenesis Imperfecta, Type Ix
Disproportionate short-limb short stature, Scoliosis, Kyphosis, Decreased calvarial ossification,... OMIM:259440
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Distal Triplication 15Q
Large for gestational age, Scoliosis, Abnormal external genitalia, Kyphosis, Camptodactyly, Flexi... ORPHA:314588
Sialidosis Type 1
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Short stature, Splenomegaly, Skeletal... ORPHA:812
Congenital Myopathy 22A, Classic
Spinal rigidity, Weakness of facial musculature, Ragged-red muscle fibers, Scoliosis, Scapular wi... OMIM:620351
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Osteoporo... OMIM:219080
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Nail dystrophy, Decreased circulating ACTH... ORPHA:293978
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Osteopenia, Premature ovarian insufficiency, Hepat... OMIM:212065
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... OMIM:263520
Fibrous Dysplasia Of Bone
Precocious puberty in females, Abnormality of the endocrine system, Ovarian cyst, Pathologic frac... ORPHA:249
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... ORPHA:83471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle... OMIM:618138
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Vertebral segmentation defect, Aplasia of the thymus ORPHA:3004
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Skeletal muscle atrophy, Kyphosis ORPHA:101078
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Scoliosis, Synostosis of carpal bones, Kyphosis, Short stature, Biliary tract ab... ORPHA:3191
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemia, Dys... ORPHA:2070
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, B lymphocytopen... ORPHA:35078
Heart Defects-Limb Shortening Syndrome
Disproportionate short stature, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of ... ORPHA:1354
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal T cell morphology, Hyperactivity, Decreased proportion of C... ORPHA:760
Monosomy 22
Hypochromic microcytic anemia, Synophrys, Hepatosplenomegaly, Sparse hair, Aplasia of the thymus,... ORPHA:96123
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a... OMIM:612260
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Severe short stature, Hypogonadism, Joint hypermobility, Cranial hyperostosis, External... ORPHA:2658
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
2P15P16.1 Microdeletion Syndrome
Inguinal hernia, Scoliosis, Facial palsy, Kyphosis, Long eyelashes, Decreased testicular size, Ca... ORPHA:261349
Intellectual Disability-Developmental Delay-Contractures Syndrome
Congenital foot contractures, Scoliosis, Distal amyotrophy, Limitation of joint mobility, Kyphosis ORPHA:3454
Mucopolysaccharidosis Type 6
Kyphosis, Joint stiffness, Failure to thrive, Ovoid vertebral bodies, Splenomegaly, Disproportion... ORPHA:583
Tibial Hemimelia
Absent tibia OMIM:275220
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Kyphosis, Short stature, Obesity, Absent pubertal growth spurt, Puberty and gonadal di... ORPHA:464282
Pseudoaminopterin Syndrome
Frontal upsweep of hair, Limited elbow movement, Inguinal hernia, Highly arched eyebrow, Sparse s... ORPHA:221120
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Arthrogryposis, Distal, Type 5
Firm muscles, Scoliosis, Congenital finger flexion contractures, Kyphosis, Short stature, Decreas... OMIM:108145
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Alg12-Cdg
Abnormal bone ossification, Hypospadias, Abnormal adipose tissue morphology, B lymphocytopenia, S... ORPHA:79324
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Metaphys... ORPHA:1667
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Seckel Syndrome 1
Talipes, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Hypera... OMIM:210600
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Jaundice, Myopathy, Normochromic anemia, Macrocytic ... OMIM:615512
3Mc Syndrome
Postnatal growth retardation, Caudal appendage, Spina bifida occulta, Highly arched eyebrow, Scol... ORPHA:293843
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... OMIM:300908
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility, Asplenia OMIM:244400
Lesch-Nyhan Syndrome
Short stature, Megaloblastic anemia, Podagra, Testicular atrophy OMIM:300322
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Cachexia, Hyperlordosis, Abnormally ossified vertebr... ORPHA:800
Lateral Meningocele Syndrome
Inguinal hernia, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Scoliosis, Hyp... ORPHA:2789
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Hyperinsulinemia, Truncal ob... OMIM:203800
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Scoliosis, Kyphosis, Joint stiffness, Short stature ORPHA:816
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis... ORPHA:93314
Typical Nemaline Myopathy
Spinal rigidity, Type 1 muscle fiber predominance, Scoliosis, Hyperlordosis, Facial diplegia, Fac... ORPHA:171436
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Kyphosis, Umbilical hernia, Absence of labia majora, Hypospadias... OMIM:265000
Hajdu-Cheney Syndrome
Delayed puberty, Decreased skull ossification, Kyphosis, Biconcave vertebral bodies, Splenomegaly... ORPHA:955
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Platyspondyly, Delayed epiphyseal ossification, Neonatal short-trunk short statur... ORPHA:93360
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigment... OMIM:610489
Desbuquois Dysplasia 1
Joint hypermobility, Disproportionate short-limb short stature, Scoliosis, Hyperlordosis, Kyphosi... OMIM:251450
Cockayne Syndrome B
Postnatal growth retardation, Hepatomegaly, Severe failure to thrive, Abnormal hair morphology, L... OMIM:133540
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Asplenia, Generalized hirsutism, Low anterior hairline, Widow's peak OMIM:617746
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... OMIM:181405
Kleefstra Syndrome 2
Growth delay, Scoliosis, Thick eyebrow, Kyphosis OMIM:617768
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Leukocytosis, Thromboc... ORPHA:2307
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Hypospadias, Recurrent fractures, Abnormality of the Leydig cells, Kyphosis, Camp... ORPHA:3063
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Abnormality of hair texture, Intrauterine growth ret... OMIM:610443
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Kyphosis, T lymphocytopenia, Lymphopenia, Craniosynostosis, Hypereosinoph... ORPHA:508533
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Lower limb hypertonia, Upper limb hypertonia, Joint hypermobility, Hypertrichosis OMIM:614898
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Congenital muscular torticollis, Scoliosis, Kyphosis, Arthrogryposis multiplex c... ORPHA:2215
Koolen-De Vries Syndrome
Hypospadias, Hypopigmentation of hair, Abnormal dental enamel morphology, Scoliosis, Vertebral se... ORPHA:96169
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Highly arched eyebrow, Scoliosis, Kyphosis, Thrombocytopenia, ... ORPHA:261250
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Kyphosis, Lef... OMIM:619040
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Limited elbow movement, Skeletal muscle hypertrophy, Scoliosis, Camptodactyly, Ky... OMIM:300280
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Hurler Syndrome
Cranial hyperostosis, Hepatomegaly, Inguinal hernia, Hirsutism, Calvarial hyperostosis, Kyphosis,... OMIM:607014
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Hypertrichosis, Kyphosis, Synophrys ORPHA:85317
Bruck Syndrome
Scoliosis, Osteoporosis, Kyphosis, Joint stiffness, Short stature, Platyspondyly, Arthrogryposis ... ORPHA:2771
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia ORPHA:86843
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho... OMIM:300755
Mucopolysaccharidosis, Type Iva
Grayish enamel, Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Hepatomegaly, Inguinal her... OMIM:253000
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Butterfly vertebrae, Scoliosis, Hemivertebrae, Bicornuate uterus... ORPHA:958
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Kyphosis, Failure to thrive, Splenomegaly, Lipodystrophy, Short neck OMIM:608776
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Abdominal situs ambiguus, Immotile sperm, Absent inne... OMIM:614874
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Scoliosis, Hyperlordosis, Calf muscle hypertrophy, Macroglossia, Kyphosis, Ac... OMIM:607155
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Mild short stature, Inguinal hernia, Tracheobronchomalacia, Kyphosis, Short stature... OMIM:309900
Aspartylglucosaminuria
Beaking of vertebral bodies, Spondylolysis, Hepatomegaly, Spondylolisthesis, Pathologic fracture,... OMIM:208400
Wieacker-Wolff Syndrome
High anterior hairline, Congenital foot contractures, Scoliosis, Hyperlordosis, Distal amyotrophy... OMIM:314580
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Postnatal growth retardation, Hip osteoarthritis, Scoliosis, Limitation of joint mobility, Hump-s... OMIM:313400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Growth delay, B lymphocytopenia OMIM:614069
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Hirsutism, Kyphosis, Woolly hair, Low anterior hairline, Cr... OMIM:619244
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Inguinal hernia, Scoliosis, Kyphosis, Joint stiffness, Camptodactyly... ORPHA:137834
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Kyphosis, Increased variability in muscle fiber diameter, Lipodystrophy, Skeletal muscle atrophy,... OMIM:151800
3C Syndrome
Postnatal growth retardation, Hypospadias, Inguinal hernia, Hypoplasia of penis, Scoliosis, Hemiv... ORPHA:7
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... OMIM:619705
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Scoliosis, Kyphosis, Low anterior hairline, Cryptorchidism ORPHA:404440
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Microphthalmia, Lenz Type
Hypospadias, Scoliosis, Hyperlordosis, Kyphosis, Short stature, Camptodactyly of finger, Cryptorc... ORPHA:568
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Abnormal form of the vertebral bodies, Abnormal hair quantity, Limitation of joint mo... ORPHA:3098
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormal penis morphology, Lipoma, Bone cyst, Sc... ORPHA:201
Mucolipidosis Type Ii
Kyphosis, Splenomegaly, Left ventricular hypertrophy, Umbilical hernia, Limited shoulder movement... ORPHA:576
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Knee flexion contracture, Kyphosis, Rectovaginal fistula, Lymphopenia OMIM:619708
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia... OMIM:603671
Meckel Syndrome, Type 1
Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Adrenal hypoplasia, Asp... OMIM:249000
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Scoliosis, Kyphosis... OMIM:259420
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor... ORPHA:198
Weismann-Netter Syndrome
Scoliosis, Calvarial hyperostosis, Horizontal sacrum, Kyphosis, Severe short stature OMIM:112350
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contracture, Thymus hyp... OMIM:619036
Poland Syndrome
Acute leukemia, Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced ... ORPHA:2911
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Brittle hair, Scoliosis, Kyphosis, Short stature, Camptodact... ORPHA:1883
4Q21 Microdeletion Syndrome
Scoliosis, Kyphosis, Synophrys, Long eyelashes, Growth delay, Generalized hirsutism, Intrauterine... ORPHA:238750
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Mgat2-Cdg
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of the endocr... ORPHA:79329
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Arthrogryposis multiple... OMIM:618291
Baralle-Macken Syndrome
Obesity, Hirsutism, Kyphosis OMIM:619255
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Facial palsy, Kyphosis, Short stature, Hip contracture, Achilles tendon contracture, F... OMIM:301041
Proteus Syndrome
Abnormal form of the vertebral bodies, Lipoma, Cachexia, Calvarial hyperostosis, Kyphosis, Joint ... ORPHA:744
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo... ORPHA:1359
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Highly arched eyebrow, Aplasia of the uterus, Kyphosis, Lo... OMIM:194190
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Cervical instability, Scol... ORPHA:94068
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Juvenile rheu... ORPHA:1855
Intellectual Developmental Disorder, X-Linked 112
Kyphoscoliosis, Hypospadias, Scoliosis, Kyphosis, Short stature, Joint hypermobility, Ambiguous g... OMIM:301111
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Dyskeratosis Congenita, Autosomal Recessive 8
Nail dystrophy, Pancytopenia, B lymphocytopenia, Sparse scalp hair, Bone marrow hypocellularity, ... OMIM:620133
Cystinosis, Nephropathic
Rickets, Delayed puberty, Male infertility, Hepatomegaly, Hypophosphatemic rickets, Hypopigmentat... OMIM:219800
Weaver Syndrome
Limited elbow extension, Joint contracture of the hand, Inguinal hernia, Scoliosis, Diastasis rec... OMIM:277590
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Panniculitis, B lymphocytopenia, Reticulocytopenia, Rhizomelic arm shortening, Short stat... ORPHA:508542
Noonan Syndrome 1
Kyphoscoliosis, Postnatal growth retardation, Juvenile myelomonocytic leukemia, Male infertility,... OMIM:163950
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Marden-Walker Syndrome
Epispadias, Muscular dystrophy, Hypospadias, Abnormal form of the vertebral bodies, Scoliosis, Ap... ORPHA:2461
Cole-Carpenter Syndrome 2
Osteopenia, Postnatal growth retardation, Lambdoidal craniosynostosis, Kyphosis, Coronal craniosy... OMIM:616294
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Nail dystrophy, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Facial palsy, Congenital ... OMIM:620186
Hemifacial Atrophy, Progressive
Poliosis, Patchy alopecia, Kyphosis OMIM:141300
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho... OMIM:228520
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Kyphosis, Joint stiffness, Abnormal sacroiliac joint m... ORPHA:2655
Marshall-Smith Syndrome
Kyphoscoliosis, Highly arched eyebrow, Kyphosis, Sparse hair, Umbilical hernia, Craniosynostosis,... OMIM:602535
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, B lymphocytopenia, Hepatosplenomegaly, Osteomyelitis, Neutropenia OMIM:301081
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Osteopenia, Delayed puberty, Abnormality of the endocrine system, Pr... ORPHA:391487
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Scoliosis, Kyphosis, M... ORPHA:140
Pseudoachondroplasia
Beaking of vertebral bodies, Limited elbow extension, Childhood onset short-limb short stature, D... OMIM:177170
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Asplenia, Hypothyroidism, Chronic hepatitis, Primary adrenal i... OMIM:269200
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Osteopenia, Sacral dimple, Ventral hernia, Inguinal hernia, Kyphosis, Umbilical h... ORPHA:536532
Achondroplasia
Limited elbow extension, Cervical spinal canal stenosis, Disproportionate short stature, Rhizomel... ORPHA:15
Hypomelanosis Of Ito
Scoliosis, Kyphosis, Alopecia OMIM:300337
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Hirsutism, Kyphosis, Synophrys OMIM:300861
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal growth retardation, Abnormal circulating follicle-stimulating hormone concentration, An... ORPHA:93325
Mucopolysaccharidosis, Type Ivb
Grayish enamel, Hepatomegaly, Inguinal hernia, Scoliosis, Hyperlordosis, Kyphosis, Osteoporosis, ... OMIM:253010
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short stature, Scoliosis, Kyphosis ORPHA:1858
Crisponi Syndrome
Scoliosis, Limitation of joint mobility, Kyphosis, Camptodactyly of finger, Flexion contracture ORPHA:1545
Fucosidosis
Lipoatrophy, Hepatomegaly, Anterior beaking of lumbar vertebrae, Abnormality of the gallbladder, ... ORPHA:349
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Hypoplasia of penis, Kyphosis, Joint stiffness, Ab... ORPHA:1606
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Scoliosis, Kyphosis ORPHA:99014
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Absent external genitalia, Hypoplasia of the fallopian tube, Asp... OMIM:273395
Mucopolysaccharidosis Type 4
Grayish enamel, Reduced bone mineral density, Joint hypermobility, Abnormal dental enamel morphol... ORPHA:582
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte... OMIM:164745
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Hypospadias, Scoliosis, Kyphosis, Abnormality of the cervical spine, F... ORPHA:464311
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Scoliosis, Limitation of joint mobility, Kyphosis, Short stature, At... OMIM:607326
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Finger dacty... ORPHA:232
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, High anterior hairline, Sacral dimple, Abnormal vertebral morpho... ORPHA:280
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Abnormal hair morphology, Scoliosis, Vertebral segmentation defect, Kyphosis, Sy... ORPHA:251014
Cdags Syndrome
Lambdoidal craniosynostosis, Hypospadias, Rectovaginal fistula, Sparse scalp hair, Kyphosis, Spar... OMIM:603116
Steinert Myotonic Dystrophy
Facial diplegia, Impotence, Abnormality of the tongue muscle, Decreased response to growth hormon... ORPHA:273
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Limited elbow extension, Platyspondyly, Rhizomelia, Disproportionate short-limb short stature, Hy... OMIM:618019
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Limb hypertonia, Highly arched eyebrow, Scoliosis, Kyphosis, Lon... OMIM:617190
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Anemia, Hepatomegaly, Lymphadenopathy, Testicular neo... ORPHA:83469
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal... OMIM:183900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformation of... OMIM:615415
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Sacral dimple, Inguinal hernia, Kyphosis, Umbilical hernia OMIM:618272
Meckel Syndrome
Accessory spleen, Asplenia, Male pseudohermaphroditism, True hermaphroditism, Cryptorchidism, Con... ORPHA:564
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology, Scoliosis, Vertebral segmentation defect, Synostosis of carpal... ORPHA:1005
Lowe Oculocerebrorenal Syndrome
Rickets, Postnatal growth retardation, Pathologic fracture, Scoliosis, Osteomalacia, Corneal scar... OMIM:309000
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Scoliosis, Hyperlordosis, Kyphosis, Elevated circulating calcitonin concentrati... OMIM:162300
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Scoliosis, Kyphosis, Clitoral hypoplasia, Camptodactyly, Long eyelashes, Omphaloce... OMIM:616894
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Kyphosi... ORPHA:534
Mucolipidosis Iii Gamma
Claw hand deformity, Shoulder contracture, Scoliosis, Hyperlordosis, Kyphosis, Finger joint contr... OMIM:252605
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Hypospadias, Multiple joint contractures, Anterior pituitary hypoplasia, Scoli... ORPHA:464306
Alexander Disease
Osteopenia, Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, Precocious puberty, Hypothyroidism,... ORPHA:58
Fountain Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Scoliosis... ORPHA:3219
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Elevated circulating C-reactive protein... OMIM:301074
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Hypospadias, Inguinal hernia, Scoliosis, Kyphosis, Sparse hair OMIM:616449
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Thrombocytopenia, Absent circulating B cells OMIM:619693
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis, Slender build OMIM:300676
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, B lymphocytopenia, Arthritis, Hyperlordosis, Low posterior hairline, Decreased propor... ORPHA:221139
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Joint hypermobility, Scoliosis, Kyphosis, Umbilical hernia ORPHA:2181
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Brittle hair, B lymphocytopenia, Growth delay, Sideroblastic anemi... OMIM:616084
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Neurofibromatosis Type 1
Osteopenia, Delayed puberty, Multiple lipomas, Rhabdomyosarcoma, Abnormality of the endocrine sys... ORPHA:636
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Rhabdomyosarcoma, B lymphocytopenia... OMIM:251260
Pelizaeus-Merzbacher Disease
Cachexia, Scoliosis, Kyphosis, Joint stiffness, Short stature, Failure to thrive in infancy ORPHA:702
Immunodeficiency 82 With Systemic Inflammation
Anemia, Anoperineal fistula, Lymphadenopathy, B lymphocytopenia, Arthritis, Decreased proportion ... OMIM:619381
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Scoliosis, Hyperlordosis, Kyphosis, Synophrys, Short stature, Thoracolumbar scolios... OMIM:618443
Thanatophoric Dysplasia Type 2
Limitation of joint mobility, Kyphosis, Short stature, Platyspondyly, Joint hypermobility ORPHA:93274
Jaberi-Elahi Syndrome
Brittle hair, Scoliosis, Kyphosis, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Failure to ... OMIM:617988
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Postnatal growth retardation, Multicentric ossification of proximal ... OMIM:223800
Koolen-De Vries Syndrome Due To A Point Mutation
Spondylolisthesis, Hyperlordosis, Kyphosis, Joint hypermobility, Craniosynostosis, Cervical spina... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spondylolisthesis, Hyperlordosis, Kyphosis, Joint hypermobility, Craniosynostosis, Cervical spina... ORPHA:363958
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis OMIM:617435
Dysostosis, Stanescu Type
Increased bone mineral density, Abnormal dental enamel morphology, Scoliosis, Hyperlordosis, Kyph... ORPHA:1798
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Mosaic Trisomy 20
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos... ORPHA:1724
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Osteoporosis, Kyphosis, Short stature, Failure to thr... OMIM:239000
Monosomy 9Q22.3
Large for gestational age, Rhabdomyosarcoma, Abnormality of the vertebral column, Ovarian fibroma... ORPHA:77301
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi... OMIM:200980
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Abnormal vertebral morphology, Asplenia ORPHA:210122
Cockayne Syndrome
Delayed puberty, Postnatal growth retardation, Hepatomegaly, Limb hypertonia, Cachexia, Scoliosis... ORPHA:191
Alg1-Cdg
Scoliosis, Limitation of joint mobility, Kyphosis ORPHA:79327
Hydrolethalus Syndrome 1
Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of h... OMIM:236680
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Primrose Syndrome
Delayed puberty, Reduced bone mineral density, Kyphosis, Generalized osteoporosis, Joint hypermob... OMIM:259050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Caudal interpedicular narrowing, Scoliosis, Laryngotracheomalacia, Delayed phalangeal epiphyseal ... OMIM:603546
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Butterfly vertebrae, Annular pancreas, Hypospadias, Diastasis recti, Bicornuate uterus, Asplenia,... OMIM:265380
Atypical Rett Syndrome
Growth delay, Scoliosis, Kyphosis ORPHA:3095
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Acromegaly
Anterior hypopituitarism, Long penis, Abnormality of the endocrine system, Pituitary growth hormo... ORPHA:963
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Sacral dimple, Hypospadias, Inguinal herni... ORPHA:268261
Osteogenesis Imperfecta, Type Viii
Osteopenia, Vertebral compression fracture, Inguinal hernia, Disproportionate short-limb short st... OMIM:610915
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
High anterior hairline, Disproportionate short-limb short stature, Scoliosis, Elbow flexion contr... OMIM:619194
Ramon Syndrome
Enlarged labia minora, Scoliosis, Decreased body weight, Kyphosis, Short stature, Juvenile rheuma... OMIM:266270
Somatomammotropinoma
Anterior hypopituitarism, Pituitary growth hormone cell adenoma, Impotence, Kyphosis, Pituitary p... ORPHA:314769
Stickler Syndrome, Type I
Beaking of vertebral bodies, Spondylolisthesis, Arthritis, Scoliosis, Kyphosis, Morbus Scheuerman... OMIM:108300
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Intellectual Developmental Disorder, Autosomal Dominant 73
Limited elbow extension, Inguinal hernia, Highly arched eyebrow, Scoliosis, Hyperlordosis, Kyphos... OMIM:620450
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,... ORPHA:3261
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Distal amyotrophy, Flexion contracture, Kyphosis OMIM:609541
Autosomal Recessive Robinow Syndrome
Hypoplastic female external genitalia, Sacral dimple, Inguinal hernia, Hypoplasia of penis, Dispr... ORPHA:1507
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scoliosis, Hirsutism, Scapular winging, Kyphosis, Synophrys, Low anterior hairline, Thick eyebrow... OMIM:617061
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Facial palsy, Kyphosis, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:617143
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Rett Syndrome
Cachexia, Scoliosis, Kyphosis, Short stature, Skeletal muscle atrophy OMIM:312750
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Scoliosis, Kyphosis, Hypothyroidism, Short stature, Joint hypermobility ORPHA:2479
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Delayed puberty, Scoliosis, Left ventricular noncompaction, Kyphosis, Slender bui... OMIM:300967
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Sclerotic vertebral body, Diaphyseal sclerosis, Kyphosis, Long eyelashes, Increase... OMIM:618476
Wrinkly Skin Syndrome
Osteopenia, Inguinal hernia, Hypoplasia of the musculature, Scoliosis, Scapular winging, Kyphosis... OMIM:278250
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal form of the vertebral bodies, Decreased skull ossification... ORPHA:666
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Cholelithiasis, Inguinal hernia, Scoliosis, Sparse scalp hair, Kyphosis, Sparse eyeb... ORPHA:464738
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Scoliosis, Kyphosis, Short stature, Biconcave flattened vertebrae, ... OMIM:166220
Truncus Arteriosus
Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus, Right vent... ORPHA:3384
Cystic Fibrosis
Osteopenia, Absent vas deferens, Male infertility, Cirrhosis, Decreased body mass index, Osteopor... ORPHA:586
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Scoliosis, Intrauterine... ORPHA:2050
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Postnatal growth retardation, Sacral dimple, Prominent protruding coccyx, Joint hyper... OMIM:300966
Mend Syndrome
Sacral dimple, Limb hypertonia, Kyphosis, Short stature, Failure to thrive, Cryptorchidism ORPHA:401973
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lipoatrophy, Generalized lipodystrophy, Hyperextensibility of the finger joints, Scapular winging... OMIM:616914
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Limb hypertonia, Kyphosis ORPHA:500180
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Scoliosis, Elbow flexion contracture, Kyphosis, Short stature, Hip contracture, Obesity, Finger j... OMIM:618493
Idiopathic Juvenile Osteoporosis
Kyphosis, Osteoporosis, Recurrent fractures, Vertebral compression fracture ORPHA:85193
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphoscoliosis, Large for gestational age, Broad eyebrow, Facial hypotonia, Limitation of joint m... ORPHA:457359
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, Multiple joint contractures OMIM:128100
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Skeletal muscle atrophy, Kyphosis, Thoracic scoliosis OMIM:603387
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Clitoral hypertrophy, Abnormality of the gallbladder, Rhizomelia... ORPHA:818
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Trichiasis, Hypospadias, Inguinal hernia, Kyphosis, Sparse eyebrow, Thin eyebrow OMIM:609944
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Kyphosis, Splenomegaly, Decreased circulat... ORPHA:64
Pontocerebellar Hypoplasia, Type 17
Intrauterine growth retardation, Limb hypertonia, Low anterior hairline, Kyphosis OMIM:619909
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Kyphosis, Pituitary adenoma, El... OMIM:300942
Developmental Malformations-Deafness-Dystonia Syndrome
Short stature, Scoliosis, Macroglossia, Kyphosis ORPHA:79107
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Short stat... ORPHA:192
Mucolipidosis Iii Alpha/Beta
Hepatomegaly, Spondylolisthesis, Inguinal hernia, Scoliosis, Limitation of joint mobility, Kyphos... OMIM:252600
Right Atrial Isomerism
Inguinal hernia, Abdominal situs ambiguus, Polysplenia, Asplenia OMIM:208530
Mend Syndrome
Sacral dimple, Kyphosis, Short stature, Failure to thrive, Cryptorchidism OMIM:300960
Distal 16P11.2 Microdeletion Syndrome
Obesity, Low anterior hairline, Kyphosis ORPHA:261222
Fliedner-Zweier Syndrome
Joint hypermobility, Scoliosis, Obesity, Kyphosis OMIM:620511
Brachyolmia Type 3
Childhood-onset short-trunk short stature, Scoliosis, Kyphosis, Platyspondyly, Short neck OMIM:113500
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Clitoral hypertrophy, Aplasia of the uterus, Kyphosis, Umbilical... OMIM:135900
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus OMIM:619607
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Inguinal hernia, Scoliosis, Kyphosis, Short stature ORPHA:261190
Foxg1 Syndrome Due To 14Q12 Microdeletion
Growth delay, Scoliosis, Macroglossia, Kyphosis ORPHA:261144
Intellectual Developmental Disorder, Autosomal Dominant 57
Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Kyphosis, Short s... OMIM:618050
Williams Syndrome
Hypoplasia of penis, Abnormal form of the vertebral bodies, Hyperlordosis, Kyphosis, Joint stiffn... ORPHA:904
Progressive Non-Infectious Anterior Vertebral Fusion
Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Pr... ORPHA:2062
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Failure to thrive, B lymphocytopenia, Neutropenia OMIM:601495
Thanatophoric Dysplasia Type 1
Kyphosis, Joint stiffness, Abnormal sacroiliac joint morphology, Platyspondyly, Lethal short-limb... ORPHA:1860
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Hypomimic face, Hirsutism, Kyphosis, Congenital hypothyroidism, Failure to thrive, Contractures o... OMIM:617527
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Hepatomegaly, Biliary atresia, Omphalocele, Asplenia, Failure to thrive... OMIM:306955
Spondyloperipheral Dysplasia
Limited elbow extension, Rhizomelic leg shortening, Rhizomelic arm shortening, Kyphosis, Short st... OMIM:271700
Charge Syndrome
Hypoplasia of the ulna, Hypocalcemia, Absent tibia, Hand monodactyly, Bilateral talipes equinovar... OMIM:214800
Mowat-Wilson Syndrome
Hypospadias, Broad eyebrow, Scoliosis, Bifid scrotum, Decreased body weight, Camptodactyly, Asple... ORPHA:2152
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Camptodactyly, Kyphosis, Flexion contracture of finger, Osteomyelitis ORPHA:88628
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Inguinal hernia, Abnormality of the vertebral column, Abnormal hai... ORPHA:2273
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Facial palsy, Kyphosis, Hand muscle atrophy, Skeletal muscle atrophy OMIM:211530
Cystic Fibrosis
Male infertility, Cirrhosis, Pancreatitis, Hepatomegaly, Biliary cirrhosis, Failure to thrive, He... OMIM:219700
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Osteopenia, Pathologic fracture, Vertebral compression fracture, Scoliosis, Kypho... OMIM:259770
17Q11 Microdeletion Syndrome
Osteopenia, Delayed puberty, Rhabdomyosarcoma, Beaking of vertebral bodies T12-L3, Elevated circu... ORPHA:97685
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypospadias, Broad eyebrow, Right unicoronal synostosis, Scoliosis, Bifid scrotum, Camptodactyly,... ORPHA:261537
Zttk Syndrome
Broad eyebrow, Craniosynostosis, Scoliosis, Hemivertebrae, Kyphosis, Curly hair, Short stature, F... OMIM:617140
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Skeletal muscle atrophy, Kyphosis, Lower limb muscle weakness ORPHA:88644
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Interver... OMIM:143095
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Scoliosis, Kyphosis, Short stature, Skeletal muscle atrophy, Abnormality of the thyroid... ORPHA:1969
Kikuchi-Fujimoto Disease
Anorexia, Anemia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Leukopeni... ORPHA:50918
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Bifid scrotum, Kyphosis, Joint hypermobility, Intrauterine growth retardation, H... OMIM:619475
Cockayne Syndrome Type 3
Premature graying of hair, Hepatomegaly, Scoliosis, Kyphosis, Enamel hypoplasia, Splenomegaly, Fl... ORPHA:90324
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Scoliosis, Kyphosis OMIM:609008
Coffin-Lowry Syndrome
Lumbar kyphosis, Inguinal hernia, Highly arched eyebrow, Hyperextensibility of the finger joints,... OMIM:303600
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Scoliosis, Hyperlordosis, Atrophic scars, Kyphosis, Join... OMIM:617821
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Hypospadias, Abnormal dental enamel morphology, Absent eyelashes, Kyphosis, Ab... ORPHA:85199
Trisomy 9P
Short neck, Scoliosis, Sacral dimple, Kyphosis ORPHA:236
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... OMIM:304120
Sotos Syndrome
Kyphosis, Prolonged neonatal jaundice, Umbilical hernia, Joint hypermobility, Craniosynostosis, H... ORPHA:821
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Sacral dimple, ... OMIM:620185
Holt-Oram Syndrome
Joint stiffness, Scoliosis, Kyphosis, Radioulnar synostosis ORPHA:392
Branchiooculofacial Syndrome
Premature graying of hair, Postnatal growth retardation, Hypospadias, Hyperlordosis, Elbow flexio... OMIM:113620
Plaa-Associated Neurodevelopmental Disorder
Limb hypertonia, Hyperextensibility of the finger joints, Hirsutism, Kyphosis, Failure to thrive,... ORPHA:521426
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Micrognathia, Mesomelia, Motor stereotyp... OMIM:619297
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypospadias, Broad eyebrow, Right unicoronal synostosis, Highly arched eyebrow, Scoliosis, Bifid ... ORPHA:261552
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Cono-Spondylar Dysplasia
Scoliosis, Kyphosis, Failure to thrive, Short nail, Short neck ORPHA:420794
Frank-Ter Haar Syndrome
Kyphoscoliosis, Osteopenia, Camptodactyly, Kyphosis, Osteoporosis, Cortical irregularity, Growth ... OMIM:249420
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Hypocalcemia, Broad toe, Triphalangea... OMIM:218330
Orofaciodigital Syndrome Type 4
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A... ORPHA:2753
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Short stature, Asplenia OMIM:619657
Heterotaxy, Visceral, 2, Autosomal
Abdominal situs inversus, Polysplenia, Asplenia OMIM:605376
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Bilateral camptodactyly, Scoliosis, Kyphosis, Synophrys, Short stature, Growth delay OMIM:619557
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Scoliosis, Kyphosis, Synophrys ORPHA:476126
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Thickened Achilles tend... OMIM:203500
Stickler Syndrome
Reduced bone mineral density, Spondylolisthesis, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:828
Marfan Syndrome
Osteopenia, Limited elbow movement, Reduced bone mineral density, Spondylolisthesis, Inguinal her... ORPHA:558
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatomegaly, Scoliosis, Sparse scalp hair, Kyphosis, Osteoporosis, Joint stiffness, Hernia, Recu... ORPHA:394
Liver Disease, Severe Congenital
Anemia, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoproteinemia, Hyperalaninemia, Hypona... OMIM:619991
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Increased bone mineral density... OMIM:119600
Occipital Horn Syndrome
Limited elbow extension, Hiatus hernia, Limited knee extension, Kyphosis, Osteoporosis, Growth de... OMIM:304150
Postencephalitic Parkinsonism
Camptocormia, Kyphosis ORPHA:97349
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Th... ORPHA:2769
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Absence of the sacrum, Intrauterine growth retardation, Abdominal situs ambiguus, Abdom... OMIM:270100
Yunis-Varon Syndrome
Severe failure to thrive, Hypospadias, Absent sternal ossification, Hypoplastic nipples, Birth le... OMIM:216340
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Large for gestational age, Scoliosis, Hyperlordosis, Kyphosis, Sparse eyebrow, Joint hypermobility OMIM:617011
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Kyphosis, Back pain, Sacroiliac arthritis, Enthesitis, Oligoarthritis OMIM:106300
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Shprintzen Omphalocele Syndrome
Scoliosis, Decreased body weight, Kyphosis, Omphalocele, Short stature, Lumbar hyperlordosis OMIM:182210
Viss Syndrome
Butterfly vertebrae, Generalized joint hypermobility, Inguinal hernia, Scoliosis, Hirsutism, Cont... OMIM:619472
Rett Syndrome, Congenital Variant
Scoliosis, Kyphosis OMIM:613454
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Lymphedema-Distichiasis Syndrome
Cellulitis, Yellow nails, Distichiasis, Kyphosis OMIM:153400
Cerebrocostomandibular Syndrome
Intrauterine growth retardation, Short stature, Kyphosis, Tracheomalacia ORPHA:1393
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb hypertonia, Foot dorsiflexor weakness, Kyphosis ORPHA:171629
Spondyloepimetaphyseal Dysplasia, X-Linked
Limited elbow extension, Delayed ossification of carpal bones, Kyphosis, Anterior wedging of T12,... OMIM:300106
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Scoliosis, Kyphosis OMIM:619482
Ewing Sarcoma
OMIM:612219

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.

Phenotype Allele Zygosity Sex Life Stage
Sternum - MPATH pathological process term hyperplasia Ewsr1tm1b(EUCOMM)Wtsi HET Early adult
Sternum - MPATH pathological process term fibro-osseous lesion Ewsr1tm1b(EUCOMM)Wtsi HET Early adult

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 Ewsr1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
EWSR1 affects PRDM9-dependent histone 3 methylation and provides a link between recombination hotspots and the chromosome axis protein REC8. Molecular biology of the cell (November 2020) Ewsr1tm1a(EUCOMM)Wtsi PMC8098819
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Ewsr1tm1b(EUCOMM)Wtsi PMC5638796

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ewsr1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ewsr1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Ewsr1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter