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Gene: Ewsr1 MGI:99960

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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
edema Ewsr1tm1b(EUCOMM)Wtsi HOM E15.5 0.00
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 8.71×10-06
increased grip strength Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 1.60×10-05
short tibia Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 2.80×10-07
increased leukocyte cell number Ewsr1tm1b(EUCOMM)Wtsi HET   Early adult 1.73×10-05
increased lymphocyte cell number Ewsr1tm1b(EUCOMM)Wtsi HET   Early adult 8.18×10-05
hyperactivity Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 6.30×10-06

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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.

Embryo LacZ

LacZ images wholemount

36 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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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, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... 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
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 2
Lymphedema OMIM:611944
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Angioedema, Hereditary, 5
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619361
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed femoral... ORPHA:168621
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Kyphosis, Joint hyperflexibility, Hypogonadism, Congenital muscular dy... ORPHA:1875
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
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
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Short stature, Shawl scrotum, Cr... OMIM:617053
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... OMIM:300604
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... ORPHA:432
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplas... ORPHA:2232
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Premature ovarian insufficiency, Short stature, Sparse pubic hair, Incr... ORPHA:243
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
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
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Schizophrenia 15
Hyperactivity OMIM:613950
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul... ORPHA:168563
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian... OMIM:261550
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... OMIM:300400
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Osteopenia, Hypergonadotropic ... ORPHA:91
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsu... ORPHA:3085
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Skeletal muscle atrophy, Hypoplasia of penis, Short stature, Short... ORPHA:110
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Neonatal death, Art... OMIM:618393
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 17
Male infertility OMIM:617214
Lymphatic Malformation 3
Lymphedema OMIM:613480
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Ataxia-Telangiectasia
Skeletal muscle atrophy, Failure to thrive, Diabetes mellitus, Hypopigmentation of hair, Short st... ORPHA:100
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Satoyoshi Syndrome
Short stature, Hyperlordosis, Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasi... ORPHA:3130
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Familial Hyperprolactinemia
Osteopenia, Female hypogonadism, Hemorrhagic ovarian cyst, Osteoporosis, Menorrhagia, Infertility... ORPHA:397685
Borjeson-Forssman-Lehmann Syndrome
Short stature, Cryptorchidism, Kyphosis, Obesity, Hypoplasia of the prostate, Scoliosis, Delayed ... OMIM:301900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Inguinal hernia, Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Cryp... OMIM:612541
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Cryptorchidism, Jaundice, Hypop... OMIM:214110
White Sponge Nevus 2
Edema OMIM:615785
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Cryptorchi... OMIM:618484
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L... OMIM:603554
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... OMIM:615300
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness OMIM:611225
Microphthalmia, Syndromic 9
Inguinal hernia, Severe short stature, Short stature, Congenital diaphragmatic hernia, Cryptorchi... OMIM:601186
Gracile Bone Dysplasia
Short stature, Asplenia, Micropenis, Decreased skull ossification, Hypoplastic spleen, Failure to... OMIM:602361
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
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
Progesterone Resistance
Female infertility OMIM:264080
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 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Female infertility, Centrally nucleated skeletal ... OMIM:619518
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Ataxia-Telangiectasia
Lymphopenia, Diabetes mellitus, Female hypogonadism, Short stature, Abnormal hair morphology, Abn... OMIM:208900
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Severe short stature, Lipoatrophy, Cryptorchidism, Kyphosis, Low posterio... ORPHA:2617
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Premature ovarian insufficiency, Osteosclerosis of the base of the ... OMIM:609993
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Short neck, Cryptorchidism, Kyphosis, Facial diplegia, Scoliosis, Neonat... OMIM:611890
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Camptodactyly of finger, Short stature, Kyph... ORPHA:48431
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Joint stiffness, Kyphosis, Scoliosis, Abnormal testis morphology ORPHA:1548
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... ORPHA:178148
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Osteoporo... OMIM:235200
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Bruxism OMIM:300434
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Short stature, Frontal balding, Short neck, Synophrys, Obesity, Primary amenorrhea... ORPHA:247768
Kennedy Disease
Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Te... ORPHA:481
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... OMIM:614129
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
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
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Small for gestational age, Short stature, Highly arched eyebrow, Cryptorchidism,... ORPHA:352490
Mcdonough Syndrome
Short stature, Cachexia, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:2471
Lymphatic Malformation 10
Lymphedema OMIM:619369
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropeni... OMIM:614172
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Parastremmatic Dwarfism
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis OMIM:168400
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Kyphosis, Prolonged neonatal jaundice OMIM:618512
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Cholangioc... ORPHA:465508
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Small for gestational age, Kyphosis, Increased serum serotonin, Hirsutism ORPHA:85288
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Cry... ORPHA:3409
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... OMIM:228300
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Xp22.3 Microdeletion Syndrome
Sacral dimple, Hypogonadotropic hypogonadism, Short stature, Decreased fertility, Secondary ameno... ORPHA:1643
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... ORPHA:206484
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Joint laxity, Hypospadias, Short stature, Cryptorchidism, Kyphosis,... OMIM:300354
Immunodeficiency 9
Myopathy, Failure to thrive, Hypoplasia of the thymus, Amelogenesis imperfecta OMIM:612782
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Distichiasis, An... ORPHA:2598
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Limb muscle weakness, Testicular atrophy, Decreased fertility OMIM:313200
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Nail dyst... OMIM:618165
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Slc35A2-Cdg
Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct... ORPHA:356961
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Myopathy, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Bethlem Myopathy 2
Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Myopathy, Atrophic scars, S... OMIM:616471
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... OMIM:243150
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density... OMIM:618392
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... ORPHA:90796
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
15Q24 Microdeletion Syndrome
Joint laxity, Small for gestational age, Hypospadias, Decreased response to growth hormone stimul... ORPHA:94065
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join... OMIM:618323
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Abscess, Abnormality of the testis size, Eosinophil... ORPHA:400
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,... ORPHA:40
Roifman Syndrome
Hip contracture, Biconvex vertebral bodies, Hypogonadotropic hypogonadism, Eosinophilia, Short st... ORPHA:353298
Schaaf-Yang Syndrome
Failure to thrive in infancy, Short stature, Cryptorchidism, Kyphosis, Flexion contracture, Obesi... OMIM:615547
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Wei... ORPHA:100024
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Kyp... OMIM:615381
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Growth delay, Nail dystrophy, Bone marrow hypocellularity, Cirrhosis, Testicular at... OMIM:613987
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly ORPHA:796
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Ruvalcaba Syndrome
Inguinal hernia, Short stature, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty, Limited elb... OMIM:180870
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Short stature, Centrally nucleated skele... OMIM:248800
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Short stature, Elevated c... OMIM:305400
3-Methylglutaconic Aciduria, Type V
Hypospadias, Postnatal growth retardation, Cryptorchidism, Microvesicular hepatic steatosis, Norm... OMIM:610198
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... ORPHA:314478
Lethal Congenital Contracture Syndrome 10
Omphalocele, Thoracic scoliosis, Torticollis, Stiff neck, Short neck, Macroglossia, Hypoplasia of... OMIM:617022
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-... OMIM:271530
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness OMIM:617087
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Congenital diaphragmatic hernia, Decreased skull ossification, Abnormality of the di... OMIM:601163
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... OMIM:615290
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... OMIM:300718
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Increased adipose tissue, Proximal amyot... OMIM:617404
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Hypocal... OMIM:607143
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology, Absent eyelashes, Cryptorc... ORPHA:861
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Ovarian cyst,... ORPHA:562
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Syndromic Diarrhea
Hepatomegaly, Inguinal hernia, Brittle hair, Small for gestational age, Hypopigmentation of hair,... ORPHA:84064
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger, C... ORPHA:2311
Sialidosis Type 2
Skeletal muscle atrophy, Inguinal hernia, Hepatomegaly, Short stature, Splenomegaly, Kyphosis, Fl... ORPHA:87876
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Short stature, Kyphosis, Obesity, Scoliosis, Foot dorsiflexor we... OMIM:618124
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc... OMIM:609981
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Kyphosi... ORPHA:628
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Myopathy, Neonatal death, Intrauterine growth retardation, Failure... OMIM:618237
Winchester Syndrome
Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteoporosis OMIM:277950
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Maternal diabetes, Hepatic steatosis, Generalized hirsutism, Loss of facial adipose... ORPHA:79083
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hepatomegaly, Short stature, Dysmenorrhea, Hepatocellular carcinoma, Pos... ORPHA:79240
Woodhouse-Sakati Syndrome
Osteopenia, Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian... ORPHA:3464
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Cowden Syndrome 1
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scolio... OMIM:158350
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Spinal rigidity, Ky... OMIM:615084
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Cryptorchidism, Kyphosis, Frontal upsweep of hair, Scoli... OMIM:619797
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Clark-Baraitser syndrome
Joint laxity, Kyphosis, Obesity, Scoliosis, Macroorchidism OMIM:300602
Carpenter Syndrome
External genital hypoplasia, Kyphoscoliosis, Craniosynostosis, Abnormal reproductive system morph... ORPHA:65759
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Immunodeficiency 27A
Hypoplasia of the femoral head, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalb... OMIM:209950
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... OMIM:618987
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune thrombocytope... ORPHA:227990
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Leukocytosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ... OMIM:619321
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weigh... ORPHA:398069
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyro... ORPHA:227982
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S... ORPHA:352447
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Dys... ORPHA:2348
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature, Camptodactyly OMIM:618453
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low p... ORPHA:2983
Three M Syndrome 1
Scapular winging, Small for gestational age, Hypospadias, Short stature, Short neck, Hyperlordosi... OMIM:273750
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi... OMIM:614732
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con... ORPHA:75840
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Kyphosis, Abdominal situs inversus, Camptodactyly OMIM:619123
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Small for gestational age, Hypospadias, Vaginal neoplasm, Decrea... ORPHA:1916
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... ORPHA:906
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... OMIM:620306
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasi... OMIM:240300
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Severe short stature, Flexion contracture, B lymphocytopenia OMIM:619851
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Kyphosis, Shawl scrotum, Micropenis, Decreased testicular size OMIM:615433
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Mosaic Trisomy 9
Hypoplasia of penis, Camptodactyly of finger, Short neck, Asplenia, Cryptorchidism, Limitation of... ORPHA:99776
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, ... OMIM:188400
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Increased body weight, He... ORPHA:264580
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Failure... ORPHA:277
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Prader-Willi Syndrome
Osteopenia, Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response... OMIM:176270
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Slow-growing hair, Short stature, Short neck, Abnormal hair morphology, Cryp... ORPHA:3082
Camurati-Engelmann Disease
Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Splenomeg... ORPHA:1328
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Arthritis, B lymphocytopenia, Failure to thrive secondary to recurrent infecti... OMIM:601457
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea ORPHA:2795
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary ORPHA:314473
22Q11.2 Deletion Syndrome
Short neck, Hypoplasia of the thymus, Abnormality of the uterus, Hypothyroidism, Hypoparathyroidi... ORPHA:567
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Kyphosis, ... ORPHA:77259
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Hepatomega... ORPHA:435660
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Short stature, Facial myokymia OMIM:620007
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Ankle swelling, Leukocytosis, Lymphocytosis, Hypochromic anem... ORPHA:514
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Scoliosis OMIM:616756
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia,... ORPHA:397596
Noonan Syndrome 14
Curly hair, Scapular winging, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis... OMIM:619745
Arthrogryposis, Distal, Type 4
Osteopenia, Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Hypoplastic lab... OMIM:609128
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Intrauterine growth retardation, Micropenis, Abnormal natur... OMIM:615966
Leopard Syndrome 1
Scapular winging, Hypospadias, Short stature, Kyphoscoliosis, Short neck, Limited elbow movement,... OMIM:151100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnorm... ORPHA:2522
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:98855
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco... OMIM:313420
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Marden-Walker Syndrome
Decreased muscle mass, Inguinal hernia, Hypospadias, Short neck, Postnatal growth retardation, Cr... OMIM:248700
Becker Nevus Syndrome
Lipoatrophy, Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum... ORPHA:64755
Genitopalatocardiac Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Male pseudohermaphroditis... ORPHA:2075
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435651
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Cockayne Syndrome Type 2
Hepatomegaly, Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Intrauterine growth retard... ORPHA:90322
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Bicoronal synostosis, Camptodactyly of finger, Supernumerary nipple, Highly arched eyebrow, Crypt... OMIM:619951
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Inguinal hernia, Short stature, Camptodactyly of finger, Cachexia, Short nec... ORPHA:85293
Myotonic Dystrophy 1
Frontal balding, Facial diplegia, Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Osteoporosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Fail... OMIM:618234
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... ORPHA:98863
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypospadias, Craniosynostosis, Short neck, Precocious puberty, Cryptorchidism,... ORPHA:254346
Alpha-Mannosidosis
Hepatomegaly, Inguinal hernia, Craniofacial hyperostosis, Short neck, Splenomegaly, Kyphosis, Mac... ORPHA:61
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Infertility, Scoliosis, Limb muscle weakness, Lower limb muscle weakness OMIM:614409
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Osteopenia, Joint laxity,... OMIM:613177
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Craniosynostosis, Cryptorchidism... OMIM:620005
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Flexion contracture, Low anterior hairline, Long eyelashes, Faci... OMIM:618658
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky... OMIM:130060
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Ruvalcaba Syndrome
Inguinal hernia, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty, Abnormal vertebral epiphys... ORPHA:3121
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Small for gestational age, Short stature, Highly arched eyebrow, Kyphosis, Umbil... OMIM:615834
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Facial hypotonia, Short stature, Cryptorchidism, Kyphosis, Scoliosis, Micropenis, A... ORPHA:364028
Harrod Syndrome
Hypospadias, Cryptorchidism, Kyphosis, Joint hyperflexibility, Scoliosis, Intrauterine growth ret... ORPHA:2115
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Osteoporosis, Platyspondyly ORPHA:2786
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Femoral-Facial Syndrome
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... ORPHA:1988
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... OMIM:110100
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Postnatal growth retardation, L... OMIM:246200
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... ORPHA:2969
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Primary testicular failure, Oligozoospermia, Weight loss, Hepatos... ORPHA:85450
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyp... OMIM:619718
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contractur... ORPHA:3042
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Aplasia of... OMIM:102700
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers,... OMIM:254090
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Short ... OMIM:227650
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... OMIM:157640
Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:98853
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Dysmenorrhea, Acroosteolysis of distal phalanges (feet), Premature graying of hair, Increased int... ORPHA:280365
Wiedemann-Rautenstrauch Syndrome
Short neck, Flexion contracture, Hypoplasia of the thymus, Generalized amyotrophy, Absent eyebrow... OMIM:264090
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Hall-Riggs Syndrome
Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine gro... OMIM:234250
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ... ORPHA:2635
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Short stature, Obesity, Scoliosis ORPHA:276630
Cowden Syndrome 5
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615108
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia o... ORPHA:436252
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth d... OMIM:301078
Gm1 Gangliosidosis
Inguinal hernia, Short stature, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis... ORPHA:354
Cohen Syndrome
Failure to thrive in infancy, Thick hair, Short stature, Abnormal eyelash morphology, Cryptorchid... ORPHA:193
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Cowden Syndrome 6
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615109
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, Lymphadenopathy, B lymphocytopenia, Failure to thrive, De... OMIM:618048
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis OMIM:615761
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Short stat... OMIM:616113
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Flynn-Aird Syndrome
Skeletal muscle atrophy, Alopecia, Cachexia, Joint stiffness, Abnormality of the thyroid gland, K... ORPHA:2047
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Prolactinoma
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... ORPHA:2965
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Isolated Anencephaly
Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal di... ORPHA:563609
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Celluli... OMIM:618986
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Thick eyebrow ORPHA:2429
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
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Con... ORPHA:83617
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles, Highly arched eyebrow OMIM:609384
Micro Syndrome
Hypoplasia of penis, Short stature, Joint stiffness, Cryptorchidism, Kyphosis, Hypoplastic labia ... ORPHA:2510
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Bloom Syndrome
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... ORPHA:125
Ck Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Slender build, Joint hyper... OMIM:300831
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Short stature, Abnormal dental... ORPHA:2916
Immunodeficiency 36 With Lymphoproliferation
Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase... OMIM:616005
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Metatropic Dysplasia
Relatively short spine, Severe short stature, Kyphoscoliosis, Abnormal enchondral ossification, H... OMIM:156530
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis ORPHA:101075
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... ORPHA:2114
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Hashim... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Short neck, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Hashim... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Hashim... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Hashim... ORPHA:881
Trisomy 13
Abnormal eyelash morphology, Cryptorchidism, Kyphosis, Scoliosis, Hernia, Displacement of the ure... ORPHA:3378
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Biliary tract abnormality, Obesity, Abnormalit... OMIM:209900
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Short neck, Postnatal growth retardation, Cryptorchidism, Splenome... ORPHA:1655
Fraser Syndrome 2
Ambiguous genitalia, Hypoplasia of the thymus, Low anterior hairline, Short neck OMIM:617666
Alstrom Syndrome
Hepatic steatosis, Alopecia, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased ... OMIM:203800
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia ORPHA:3204
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Abnormal dental enamel morpho... ORPHA:1896
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Severe short stature, Short neck, Joint stiffness, Kyphosis, Splen... OMIM:230500
Trisomy 20P
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced bone mineral de... ORPHA:261318
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Upper limb hypertonia, Joint hyperflexibility ORPHA:319199
Emanuel Syndrome
Sacral dimple, Torticollis, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Kyp... OMIM:609029
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Umbilical hernia, Hi... OMIM:269700
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Osteoporosis, Obesity, Increased circulatin... OMIM:219090
Cdkl5-Deficiency Disorder
Growth delay, Kyphosis, Synophrys, Scoliosis ORPHA:505652
3M Syndrome
Scapular winging, Hypospadias, Abnormal dental enamel morphology, Short stature, Hyperlordosis, S... ORPHA:2616
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Kyphoscoliosis, Postnatal growth retardation, Cryptorchidism, Kyphosis, Reduced alph... OMIM:301040
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Overweight, Cryptorchidism, Kyphosis, Flexion contracture, Hypogonadism, Scoliosis... ORPHA:500055
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Streak ovary, Hypospadias, Kyphoscoliosis, Joint stiffness, Cryptorchidism, Uterus d... OMIM:618820
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Inguinal hernia, Short stature, Short neck, Cryptorchidi... OMIM:130720
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion ... OMIM:259450
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Hypospadias, Short stature, Congenital diaphragmatic hernia, Crypt... OMIM:617602
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Umbilical hernia, Hi... OMIM:608594
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphyses, Short tibia... ORPHA:96334
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of l... OMIM:230650
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Patchy reduction of bone mineral density, Abnormality of the cervical spine, C... ORPHA:249
3Mc Syndrome
Diastasis recti, Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Highly arched eye... ORPHA:293843
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Highly arched eyebrow, Cryptorchidism, Kyphosis... OMIM:619005
Alg9-Cdg
Omphalocele, Hepatomegaly, Torticollis, Lipodystrophy, Rhizomelia, Hypoplasia of the musculature,... ORPHA:79328
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Lymphopenia, Abnormal repetitive mannerisms ORPHA:391307
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Distal Triplication 15Q
Abnormal external genitalia, Craniosynostosis, Large for gestational age, Kyphosis, Flexion contr... ORPHA:314588
Masa Syndrome
Kyphosis, Short stature, Hyperlordosis OMIM:303350
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Growth delay... OMIM:614034
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Short stature, Camptodactyly of finger, Thenar muscle atrophy, Joi... OMIM:607015
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Pycnodysostosis
Joint laxity, Decreased serum insulin-like growth factor 1, Increased bone mineral density, Rhizo... ORPHA:763
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Abnormality of the musculature of the lower limbs, Short stature, Absent pubertal growth spurt, P... ORPHA:464282
Mucopolysaccharidosis, Type Vii
Short neck, Flexion contracture, Coarse hair, Anterior beaking of lumbar vertebrae, Hepatomegaly,... OMIM:253220
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Sparse scalp hair, Inguinal hernia, Short stature, Highly ar... ORPHA:221120
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long e... OMIM:616455
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate... OMIM:616482
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Microcytic anemia, Abnormal hair morpholog... ORPHA:324737
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Inguinal hernia, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, ... ORPHA:2789
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... OMIM:206920
Sialidosis Type 1
Skeletal muscle atrophy, Short stature, Splenomegaly, Kyphosis, Abnormal form of the vertebral bo... ORPHA:812
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... OMIM:259440
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Low posterior hairline... ORPHA:79324
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Postnatal growth retarda... OMIM:620366
Cockayne Syndrome A
Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micropenis, Loss of facial a... OMIM:216400
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Short stature, Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Epid... OMIM:307200
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Low anterior hairline, Wrist flexion contracture, Generalize... ORPHA:800
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis, Skeletal muscle atrophy ORPHA:101078
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Inguinal hernia, Streak ovary, Failure to thrive in infancy, Hypospadias... ORPHA:798
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Joint stiffness, Splenomegaly, Kyphosis, Disproportionate sho... ORPHA:583
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... OMIM:612260
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short stature, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Type II... ORPHA:3191
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele... OMIM:620351
2P15P16.1 Microdeletion Syndrome
Inguinal hernia, Facial palsy, Supernumerary nipple, Camptodactyly of finger, Sparse eyebrow, Kyp... ORPHA:261349
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Asplenia, Widow's peak, Low anterior hairline, Generalized hirsutism OMIM:617746
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH co... OMIM:219080
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... ORPHA:760
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... ORPHA:83471
3Mc Syndrome 2
Torticollis, Hypospadias, Diastasis recti, Hypoplasia of the musculature, Partial abdominal muscl... OMIM:265050
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Kyphosis, Increased mean corpuscula... ORPHA:261250
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Short stature, Kyphosis, Vacuolated lymphocytes, Macroglossia, Platys... OMIM:208400
Lesch-Nyhan Syndrome
Testicular atrophy, Podagra, Short stature, Megaloblastic anemia OMIM:300322
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect, Aplasia of the thymus, Short stature ORPHA:3004
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosis ORPHA:3454
Heart Defects-Limb Shortening Syndrome
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatic steatosis, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic h... OMIM:212065
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro... OMIM:210900
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Juvenile myelomonocytic leukemia, Short stature, Highly arched eyebrow, Short neck,... OMIM:613563
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Asplenia OMIM:244400
Lenz-Majewski Hyperostotic Dwarfism
External genital hypoplasia, Epispadias, Elbow ankylosis, Abnormal penis morphology, Increased bo... ORPHA:2658
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lym... ORPHA:1667
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Hypospadias, Abnormal dental enamel morphology, Short... ORPHA:96169
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Woolly hai... OMIM:619244
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Monosomy 22
Aplasia of the thymus, Short neck, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, ... ORPHA:96123
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Seckel Syndrome 1
11 pairs of ribs, Pes planus, Hyperactivity, Pancytopenia, Ivory epiphyses, Abnormal finger flexi... OMIM:210600
Tibial Hemimelia
Absent tibia OMIM:275220
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E... OMIM:618138
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Hypospadias, Short stature, Kyphoscoliosis, Recurrent fractures, Sparse ey... ORPHA:3063
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Small scrotum, Inguinal hernia, Camptod... ORPHA:2215
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Rhizomelia, Iliac crest serration, Hypoplasia... ORPHA:239
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Severe short stature, Small for gest... OMIM:133540
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Fair hair, Small for gestational age, Short stature, Abnormality... OMIM:610443
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Short stature, Limited wrist extension, Kyphosis, Distal arthrogryposis, F... OMIM:108145
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Kyphosis, Spleno... OMIM:615512
Sjögren-Larsson Syndrome
Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis ORPHA:816
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Abnor... ORPHA:93314
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... OMIM:610489
Typical Nemaline Myopathy
Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Limb-girdle muscle weakness, ... ORPHA:171436
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... ORPHA:293978
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the radius, Short thumb... ORPHA:2307
Desbuquois Dysplasia 1
Joint laxity, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Osteopor... OMIM:251450
Proteus Syndrome
Decreased muscle mass, Neoplasm of the thymus, Abnormal form of the vertebral bodies, Generalized... ORPHA:744
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... OMIM:619040
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, T lymphocytopenia, Abnormality of the cer... ORPHA:508533
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Synophrys, Low anterior hairline, Coarse hair, Hernia, Decreased skull os... ORPHA:955
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Scoliosis ORPHA:404440
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Joint hyperflexibility, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis OMIM:614898
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Delayed epiphys... ORPHA:93360
Microphthalmia, Lenz Type
Hypospadias, Camptodactyly of finger, Short stature, Hyperlordosis, Cryptorchidism, Kyphosis, Sco... ORPHA:568
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Synophrys, Scoliosis, Hypertrichosis ORPHA:85317
Kleefstra Syndrome 2
Growth delay, Kyphosis, Thick eyebrow, Scoliosis OMIM:617768
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Short stature, Short neck, Joint stiffness, Hypoplasia of the odon... OMIM:607014
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Uruguay Faciocardiomusculoskeletal Syndrome
Left ventricular hypertrophy, Kyphoscoliosis, Limited elbow movement, Kyphosis, Synophrys, Skelet... OMIM:300280
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Bruck Syndrome
Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoli... ORPHA:2771
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Failure to thrive OMIM:608776
Meckel Syndrome, Type 1
Accessory spleen, Omphalocele, External genital hypoplasia, Adrenal hypoplasia, Short neck, Asple... OMIM:249000
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile sperm, Abdominal s... OMIM:614874
Wieacker-Wolff Syndrome
Short stature, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, D... OMIM:314580
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Growth delay, B lymphocytopenia OMIM:614069
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o... OMIM:313400
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuat... ORPHA:958
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Poland Syndrome
Diabetes mellitus, Hypospadias, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Kyph... ORPHA:2911
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, T lymphocytopenia, Lymph node hypo... OMIM:300755
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Umbil... ORPHA:137834
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... OMIM:607155
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Anemia, Growth delay, Cortical thickening of long bo... ORPHA:93325
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Abnormal form of the vertebral bodies, Accessory spleen, Vertebral fusion,... OMIM:194190
Mucopolysaccharidosis, Type Iva
Joint laxity, Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, H... OMIM:253000
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Inguinal hernia, Severe short stature, Short stature, Short neck, Kyphosis, Splenom... OMIM:309900
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
3C Syndrome
Hypoplasia of penis, Inguinal hernia, Hypospadias, Short stature, Adrenal hypoplasia, Short neck,... ORPHA:7
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Short stature, Rhizomelia, Short neck, Kyphosis, Limitation of joint mobi... ORPHA:3098
Mucolipidosis Iii Gamma
Short stature, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Scoliosis OMIM:252605
Weaver Syndrome
Inguinal hernia, Diastasis recti, Cryptorchidism, Kyphosis, Limited knee extension, Fine hair, Hy... OMIM:277590
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr... OMIM:259420
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Lymphopenia, Rectovaginal fistula, Knee flexion contracture OMIM:619708
Weismann-Netter Syndrome
Severe short stature, Kyphosis, Horizontal sacrum, Scoliosis, Calvarial hyperostosis OMIM:112350
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Abnormality ... ORPHA:391487
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Short stature, Follicular thyroid carcinoma, En... ORPHA:201
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thoracic scoliosis, Absent nipple, Aplasia of the thymus, Facial palsy, Short stature, Sparse eye... OMIM:620186
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Osteopenia, Thoracic scoliosis, Sacral dimple, Diabetes mellitus, Widened atrophi... ORPHA:536532
Mucolipidosis Type Ii
Dry hair, White hair, Knee flexion contracture, Short stature, Limited shoulder movement, Hepatos... ORPHA:576
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Synophrys, Growth delay, Long eyelashes, Scoliosis, Intrauterine growth ret... ORPHA:238750
Baralle-Macken Syndrome
Kyphosis, Obesity, Hirsutism OMIM:619255
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Short stature, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, ... OMIM:301041
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of... ORPHA:1883
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital con... OMIM:619036
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ... OMIM:163950
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Nail dystrophy, ... OMIM:620133
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... ORPHA:94068
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Short stature, Decreased response to growth hormone st... ORPHA:1855
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Abnormality of the endocr... ORPHA:79329
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Short stature, Camptodactyly of finger, Short neck, Abnormal hair morphology, Cr... ORPHA:251014
Marshall-Smith Syndrome
Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilateral cryptorchidism, S... OMIM:602535
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Small for gestational age, Hypospadias, Ankle flexion contracture,... ORPHA:464311
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Hemifacial Atrophy, Progressive
Kyphosis, Patchy alopecia, Poliosis OMIM:141300
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Sacral dimple, Short stature, Short neck, Cryptorchidism, Kyphosis, Clitoral hypopla... OMIM:616894
Wolf-Hirschhorn Syndrome
Sacral dimple, Hypospadias, Congenital diaphragmatic hernia, Highly arched eyebrow, Cryptorchidis... ORPHA:280
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Hepatosplenomegaly, Panniculitis, B lymphocytopenia, Neutropenia OMIM:301081
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, Pannic... ORPHA:508542
Lowe Oculocerebrorenal Syndrome
Short stature, Camptodactyly of finger, Osteomalacia, Postnatal growth retardation, Cryptorchidis... OMIM:309000
Pseudoachondroplasia
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, Ky... OMIM:177170
Thanatophoric Dysplasia
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Platyspo... ORPHA:2655
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... ORPHA:273
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur... OMIM:618291
Hypomelanosis Of Ito
Kyphosis, Alopecia, Scoliosis OMIM:300337
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h... OMIM:269200
Meckel Syndrome
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Asplenia, Cryptorchidism, Male pseud... ORPHA:564
Cole-Carpenter Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Kyphosis, Platyspon... OMIM:616294
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:1858
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Kyphosis, Scoliosis ORPHA:99014
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Scoliosis ORPHA:1545
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Asp... OMIM:273395
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Disproportionate short statu... ORPHA:15
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Synophrys, Hirsutism, Scoliosis OMIM:300861
Cystinosis, Nephropathic
Male infertility, Skeletal muscle atrophy, Hypopigmentation of hair, Diabetes mellitus, Failure t... OMIM:219800
Marden-Walker Syndrome
Abnormal penis morphology, Skeletal muscle atrophy, Severe short stature, Hypospadias, Camptodact... ORPHA:2461
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Hypo... ORPHA:1606
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Iron deficiency anemia, Ova... OMIM:175200
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short stature, Recurrent fractures, Tracheomalacia, Short nec... ORPHA:140
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Short stature, Short neck, Hypoplasia of the odontoid pro... OMIM:607326
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Small for gestational age, Hypospadias, Anterior pituitary hypoplasi... ORPHA:464306
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... OMIM:164745
Mosaic Trisomy 20
Vertebral fusion, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vert... ORPHA:1724
Mucopolysaccharidosis, Type Ivb
Joint laxity, Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Grayish ename... OMIM:253010
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... OMIM:615415
Shashi-Pena Syndrome
Highly arched eyebrow, Kyphosis, Synophrys, Osteoporosis, Hypertrichosis, Long eyelashes, Scolios... OMIM:617190
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Mucopolysaccharidosis Type 4
Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish en... ORPHA:582
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Umbilical hernia OMIM:618272
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Fucosidosis
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Kyphosis, Abnormality of the gallbladder, Anter... ORPHA:349
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl... OMIM:618019
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Mod... ORPHA:1005
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Cdags Syndrome
Sparse scalp hair, Sparse eyelashes, Hypospadias, Sagittal craniosynostosis, Sparse eyebrow, Kyph... OMIM:603116
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Pineal cyst, Hypothyr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Pineal cyst, Hypothyr... ORPHA:363958
Neurofibromatosis Type 1
Abnormal hair quantity, Short stature, Recurrent fractures, Joint stiffness, Precocious puberty, ... ORPHA:636
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... OMIM:616084
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Pheochromocytoma, ... OMIM:162300
Fountain Syndrome
Craniofacial hyperostosis, Short stature, Kyphosis, Synophrys, Abnormal form of the vertebral bod... ORPHA:3219
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Hyperlordosis, Abnormal T cell subset distribution, Low posterior hairline, Arthritis... ORPHA:221139
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Short stature, Rhabdomyosarcoma, T ... OMIM:251260
Alexander Disease
Osteopenia, Diabetes mellitus, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Precocious pube... ORPHA:58
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... OMIM:301074
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Short stature, Abnormal dental enamel morphology, Osteomalacia, Cryptorchidi... ORPHA:534
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Hypospadias, Kyphosis, Scoliosis, Sparse hair, Clitoral hypertrophy OMIM:616449
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Umbilical hernia, Scoliosis, Joint hyperflexibility ORPHA:2181
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Scoliosis ORPHA:702
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, ... OMIM:617988
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Postna... OMIM:223800
Thanatophoric Dysplasia Type 2
Short stature, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly ORPHA:93274
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Elbow flexion contra... OMIM:619194
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Follicular hyperplasia, Splen... OMIM:619381
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Dry hair, Diabetes mellitus, Severe... ORPHA:191
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Obesity... OMIM:618443
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Short stature, Recurrent fractures, Macular scar, Kyp... OMIM:239000
Dysostosis, Stanescu Type
Increased bone mineral density, Short stature, Abnormal dental enamel morphology, Hyperlordosis, ... ORPHA:1798
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Primrose Syndrome
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c... OMIM:259050
Autosomal Recessive Robinow Syndrome
Sacral dimple, Hypoplasia of penis, Alopecia, Camptodactyly of finger, Inguinal hernia, Short nec... ORPHA:1507
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Atypical Rett Syndrome
Growth delay, Kyphosis, Scoliosis ORPHA:3095
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... OMIM:208500
Hydrolethalus Syndrome 1
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... OMIM:236680
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Scoliosis ORPHA:79327
Monosomy 9Q22.3
Ovarian fibroma, Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Joint hyperfl... ORPHA:77301
Wrinkly Skin Syndrome
Osteopenia, Scapular winging, Inguinal hernia, Short stature, Short nail, Hypoplasia of the muscu... OMIM:278250
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas, Abnormal vertebral morphology ORPHA:210122
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Hypospadias, Diastasis recti, Asplenia, Pulmonary lymphangiectasia, Bicornuate uteru... OMIM:265380
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Kyphoscoliosis, Cryptorchidism, Kyphosis, Pineal cyst, Left ventricular noncompacti... OMIM:300967
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Inguinal hernia, Recurrent fractures, Multiple prenatal fractures, Kyph... OMIM:610915
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Stickler Syndrome, Type I
Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann, Scoliosi... OMIM:108300
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Mend Syndrome
Sacral dimple, Short stature, Cryptorchidism, Kyphosis, Failure to thrive, Limb hypertonia ORPHA:401973
Ramon Syndrome
Short stature, Enlarged labia minora, Kyphosis, Scoliosis, Decreased body weight, Juvenile rheuma... OMIM:266270
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Inguinal hernia, Small for gestational age, Failure to thrive in infancy, Hypospad... ORPHA:268261
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:617143
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis OMIM:609541
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di... OMIM:618476
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Thick eyebrow, Kyphosis, Synophrys, Low anterior hairline, Frontal upsweep of h... OMIM:617061
Rett Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis OMIM:312750
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Short stature, Kyphosis, Joint hyperflexibility, Scoliosis, Hypothyroidism ORPHA:2479
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Truncus Arteriosus
Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus, Right vent... ORPHA:3384
Osteogenesis Imperfecta, Type Iv
Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibi... OMIM:166220
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra... ORPHA:666
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Joint hypermobility, Short neck, Postnatal growth retardation, Kyphosi... OMIM:300966
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Hypopigmentation of hair, Hypospadias, Abnormal dental enamel morphology, Co... ORPHA:818
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, L... OMIM:616914
Mend Syndrome
Sacral dimple, Short stature, Cryptorchidism, Kyphosis, Failure to thrive OMIM:300960
Cole-Carpenter Syndrome
Short stature, Abnormal dental enamel morphology, Recurrent fractures, Kyphosis, Abnormal form of... ORPHA:2050
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Inguinal hernia, Hypospadias, Sparse eyebrow, Kyphosis, Male urethral meatus s... ORPHA:464738
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Obesity, Scoliosis, Finger j... OMIM:618493
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis OMIM:128100
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Limb hypertonia ORPHA:500180
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures ORPHA:85193
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture OMIM:603387
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Spina bifida occulta, Joint laxity, Clitoral hypertrop... OMIM:135900
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, ... ORPHA:457359
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Kyphosis, Short stature, Scoliosis ORPHA:79107
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Craniofacial hyperostosis, Short stature, Kyphosis, Abnormal form of the... ORPHA:192
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula... OMIM:300942
Alström Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... ORPHA:64
Right Atrial Isomerism
Asplenia, Inguinal hernia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Intrauterine growth retardation, Low anterior hairline, Limb hypertonia OMIM:619909
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Inguinal hernia, Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow OMIM:609944
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Absent eyebrow, Alopecia, Inguinal hernia, Severe short stature, Camptodactyly of fi... ORPHA:2273
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus OMIM:619607
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Low anterior hairline, Obesity ORPHA:261222
Brachyolmia Type 3
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis OMIM:113500
15Q14 Microdeletion Syndrome
Kyphosis, Inguinal hernia, Short stature, Scoliosis ORPHA:261190
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Growth delay, Scoliosis ORPHA:261144
Thanatophoric Dysplasia Type 1
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Lethal short-limb... ORPHA:1860
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of t... OMIM:618050
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Failure to thrive, Rectal abscess, Neutropenia OMIM:601495
Williams Syndrome
Osteopenia, Hypoplasia of penis, Abnormal form of the vertebral bodies, Vertebral segmentation de... ORPHA:904
17Q11 Microdeletion Syndrome
Osteopenia, Short stature, Rhabdomyosarcoma, Precocious puberty, Kyphosis, Thickened cortex of lo... ORPHA:97685
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... ORPHA:2062
Spondyloperipheral Dysplasia
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... OMIM:271700
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis OMIM:211530
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger ORPHA:88628
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Congenital hypothyroidism, Contractures of the large joints, Failure to thrive, Hirsuti... OMIM:617527
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Absence of the sacrum, Hepatomegaly, Block vertebrae, Asplenia, Biliary atresia, Abd... OMIM:306955
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... OMIM:214800
Mowat-Wilson Syndrome
Bifid scrotum, Broad eyebrow, Hypospadias, Short stature, Septate vagina, Recurrent fractures, As... ORPHA:2152
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased... OMIM:259770
Branchiooculofacial Syndrome
Hypospadias, Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kypho... OMIM:113620
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Lower limb muscle weakness, Scoliosis, Skeletal muscle atrophy ORPHA:88644
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Kyphoscoliosis, Short neck, Highly ... OMIM:143095
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Short stature, Septate vagina, Asplenia, Cryptorchidism, Flexion cont... ORPHA:261537
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Abnormality of the thyroid gland, Kyphosis, Sco... ORPHA:1969
Zttk Syndrome
Absent gallbladder, Curly hair, Short stature, Joint hypermobility, Craniosynostosis, Sparse eyeb... OMIM:617140
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Anorexia, Thrombocytopenia, Splenomegaly, ... ORPHA:50918
Cystic Fibrosis
Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Failure to thri... OMIM:219700
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Atrophic scars, Scoliosis, Join... OMIM:617821
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bifid scrotum, Synophrys, Abnormal curvature of the vertebral column, Micropenis, Hepa... OMIM:619475
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Dry hair, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly,... ORPHA:90324
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Inguinal hernia, Short stature, Highly arched eyebrow, K... OMIM:303600
Marfanoid Habitus With Situs Inversus
Kyphosis, Hyperextensibility of the finger joints, Scoliosis OMIM:609008
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Hypospadias, Abnormal dental enamel morphology, Tarsal synostosis, Absent eyelash... ORPHA:85199
Atelis Syndrome 2
Sacral dimple, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Holt-Oram Syndrome
Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness ORPHA:392
Sotos Syndrome
Flexion contracture, Hypothyroidism, Abnormal vertebral morphology, Joint laxity, Hypospadias, Cr... ORPHA:821
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Kyphosis, Contractures of the large joints, Failure to t... ORPHA:521426
Kinsship Syndrome
Pes planus, Micrognathia, Coxa valga, Hip dislocation, Bruxism, Fibular hypoplasia, Polydactyly, ... OMIM:619297
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Osteoporosis, Gro... OMIM:249420
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Short stature, Septate vagina, Highly arched eyebrow, Asplenia, Crypt... ORPHA:261552
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... OMIM:218330
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Short stature OMIM:619657
Cono-Spondylar Dysplasia
Short nail, Short neck, Kyphosis, Scoliosis, Failure to thrive ORPHA:420794
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thickened Achill... OMIM:203500
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... ORPHA:2753
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short stature, Kyphosis, Bilateral camptodactyly, Synophrys, Growth delay, Scoliosis OMIM:619557
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Arthralgia/arthritis, Cachexia, Limited elb... ORPHA:558
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Synophrys, Failure to thrive, Scoliosis ORPHA:476126
Stickler Syndrome
Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Cachexia, Kyphosis, Os... ORPHA:828
Classic Homocystinuria
Sparse scalp hair, Hepatomegaly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, He... ORPHA:394
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Micrognathia, Increased circu... OMIM:619991
Cleidocranial Dysplasia 1
Increased bone mineral density, Short stature, Kyphosis, Moderately short stature, Delayed pubic ... OMIM:119600
Occipital Horn Syndrome
Joint laxity, Hiatus hernia, Kyphosis, Capitate-hamate fusion, Osteoporosis, Growth delay, Platys... OMIM:304150
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Increased susceptibility to... ORPHA:2769
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Yunis-Varon Syndrome
Sparse scalp hair, Absent nipple, Small for gestational age, Failure to thrive in infancy, Anteri... OMIM:216340
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Hyperlordosis, Sparse eyebrow, Kyphosis, Large for gestational age, Scoliosis OMIM:617011
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Asplenia, Abdominal situs inversus, Intrauterine growth retardation, Abdom... OMIM:270100
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis OMIM:106300
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Sparse scalp hair, Inguinal her... OMIM:619472
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Lymphedema-Distichiasis Syndrome
Yellow nails, Kyphosis, Distichiasis, Cellulitis OMIM:153400
Cerebrocostomandibular Syndrome
Tracheomalacia, Kyphosis, Short stature, Intrauterine growth retardation ORPHA:1393
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness ORPHA:171629
Spondyloepimetaphyseal Dysplasia, X-Linked
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionat... OMIM:300106
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis 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 fibro-osseous lesion Ewsr1tm1b(EUCOMM)Wtsi HET Early adult
Sternum - MPATH pathological process term hyperplasia 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 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Gammaherpesvirus-mediated repression reveals EWSR1 to be a negative regulator of B cell responses. Proceedings of the National Academy of Sciences of the United States of America (August 2022) Ewsr1tm1c(EUCOMM)Wtsi PMC9371696
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

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