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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
hyperactivity Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 6.30×10-06
increased circulating alkaline phosphatase level Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 8.71×10-06
edema Ewsr1tm1b(EUCOMM)Wtsi HET E15.5 0.00
edema Ewsr1tm1b(EUCOMM)Wtsi HOM E15.5 0.00
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
preweaning lethality, complete penetrance Ewsr1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
short tibia Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 2.80×10-07
increased grip strength Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 1.60×10-05

Download data as:  TSV  XLS

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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.

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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Embryo LacZ

LacZ images wholemount

36 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 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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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Histopathology

Images

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