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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
short tibia Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 2.80×10-07
hyperactivity Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 1.01×10-06
increased circulating alkaline phosphatase level Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 8.83×10-06
increased lymphocyte cell number Ewsr1tm1b(EUCOMM)Wtsi HET   Early adult 8.48×10-05
edema Ewsr1tm1b(EUCOMM)Wtsi HOM E15.5 0.00
preweaning lethality, complete penetrance Ewsr1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased leukocyte cell number Ewsr1tm1b(EUCOMM)Wtsi HET   Early adult 2.24×10-05
edema Ewsr1tm1b(EUCOMM)Wtsi HET E15.5 0.00
increased grip strength Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 3.42×10-05

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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
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 33.33% (2 of 6)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
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 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
placenta 16.67% (7 of 42)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

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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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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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

1 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Immunophenotyping

Panel B FCS file(s)

1 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Immunophenotyping

Panel A FCS file(s)

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
Ovarian neoplasm, Abnormality of the peritoneum, Weight loss, Hepatomegaly, Cachexia, Anemia, Tes... 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
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 2
Lymphedema OMIM:611944
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Angioedema, Hereditary, 5
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619361
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Ring Chromosome Y Syndrome
Cryptorchidism, Male hypogonadism, Female infertility, Male infertility, Abnormal spermatogenesis... ORPHA:261529
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Joint hyperflexibility, Congenital muscular dystrophy, Kyphosis, Decrea... ORPHA:1875
Angioedema, Hereditary, 8
Laryngeal edema, Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619367
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Mirage Syndrome
Scoliosis, Cryptorchidism, Radial club hand, Microphallus, Hypergonadotropic hypogonadism, Lympho... OMIM:617053
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Camptodactyly, Increased female libido, Delayed puberty, Secon... ORPHA:432
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Abnormality of secondary sexual hair, Streak ovary, Pri... ORPHA:243
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Small hypothenar eminence, Delayed puberty, Osteoporosis, Aplasia of the ovary, H... ORPHA:2232
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Inguinal hernia, Abnormality of male internal genitalia, Abnormal circu... OMIM:261550
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Intrauterine growth retardation, Truncal obesity, Failure to thrive, Short statur... ORPHA:261483
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Chilblain Lupus 2
Edema OMIM:614415
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Familial Hyperprolactinemia
Osteoporosis, Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonad... ORPHA:397685
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:66628
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:179494
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Breast hypoplasia, Anterior hypopituitarism, Absence of secondary sex characteristi... ORPHA:2235
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Sparse axillary hair, Abnormal internal genitalia, Delayed puberty, Female extern... ORPHA:251510
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:617241
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Lymphopenia, Growth delay, Neutropenia, Hypopl... OMIM:612541
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Aromatase Deficiency
Generalized hirsutism, Cryptorchidism, Osteoporosis, Eunuchoid habitus, Hypergonadotropic hypogon... ORPHA:91
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Lymphatic Malformation 3
Lymphedema OMIM:613480
Ataxia-Telangiectasia
T lymphocytopenia, Abnormal hair morphology, Decreased proportion of CD4-positive helper T cells,... OMIM:208900
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Kyphosis, Keloid... ORPHA:3085
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:300400
Ataxia-Telangiectasia
Hypopigmentation of hair, Premature graying of hair, Abnormal testis morphology, Lymphopenia, Apl... ORPHA:100
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Testicular atrophy, Short stature, Anemia, Hypogonadism OMIM:618165
Burkitt Lymphoma
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... ORPHA:543
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Absent pubic hair, Hypoplasia of the uterus, Primary amenorrhea, Decreased circul... OMIM:614841
Premature Ovarian Failure 2B
Osteoporosis, Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Satoyoshi Syndrome
Hyperlordosis, Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidu... ORPHA:3130
Bardet-Biedl Syndrome
Cryptorchidism, Medial flaring of the eyebrow, Hepatic fibrosis, Skeletal muscle atrophy, Hypopla... ORPHA:110
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Clinodactyly, Micrognathia, Radial deviation of finger OMIM:608747
Perrault Syndrome 4
Osteoporosis, Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomen... OMIM:615300
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Arthrogryposis multiplex congenita, Camptodactyly, Flexion contracture, Kyphosis,... OMIM:618393
White Sponge Nevus 2
Edema OMIM:615785
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Lipoatrophy, Polycystic ovaries... ORPHA:280356
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Rothmund-Thomson Syndrome, Type 1
Osteoporosis, Male hypogonadism, Sparse hair, Absent eyelashes, Hypothyroidism, Absent eyebrow, S... OMIM:618625
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Premature ovarian insufficiency, Hypoplasia of the ovary, Osteoscle... OMIM:609993
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Cryptorchidism, Cervical spinal canal stenosis, Scheuermann-like vertebral changes, Ky... OMIM:301900
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Premature ovarian insufficiency, Short stature, Foot dorsiflexor weakness, Obesity OMIM:618124
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Kyphosis, Centrally nucleated skel... OMIM:618484
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Growth delay, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocell... OMIM:613987
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency, Increased bone mineral density ORPHA:75325
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Camptodactyly, Intrahepatic biliary dysgenesis, Hypoplasia of the thymus, Jaundic... OMIM:214110
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Severe short stature, Premature ovarian insufficiency, Failure to thrive ORPHA:2278
Xp22.3 Microdeletion Syndrome
Sacral dimple, Polycystic ovaries, Secondary amenorrhea, Short stature, Hypogonadotropic hypogona... ORPHA:1643
Alpha-Heavy Chain Disease
Growth delay, Hepatomegaly, Splenomegaly, Anemia, Alopecia, Premature ovarian insufficiency, Lymp... ORPHA:100025
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Flexion contracture, Severe short stature, Short neck OMIM:168400
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Gracile Bone Dysplasia
Asplenia, Decreased skull ossification, Failure to thrive, Short stature, Hypoplastic spleen, Mic... OMIM:602361
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Scoliosis, Acute rhabdomyolysis, Kyphosis, Long eyelashes,... ORPHA:48431
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Familial Male-Limited Precocious Puberty
Long penis, Abnormal hair morphology, Oligospermia, Macroorchidism, Male infertility, Precocious ... ORPHA:3000
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Functioning Gonadotropic Adenoma
Abnormality of secondary sexual hair, Pituitary hypothyroidism, Delayed puberty, Osteoporosis, De... ORPHA:91348
Widow'S Peak Syndrome
Cryptorchidism, Mild short stature, Hip osteoarthritis, Widow's peak, Kyphosis, Inguinal hernia, ... OMIM:314570
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Hemochromatosis, Type 1
Osteoporosis, Cirrhosis, Azoospermia, Amenorrhea, Hepatocellular carcinoma, Impotence, Hepatomega... OMIM:235200
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal l... OMIM:600175
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Short neck, Kyphosis, Neonatal dea... OMIM:611890
Stuve-Wiedemann Syndrome
Short phalanx of finger, Micrognathia, Femoral bowing, Thickened cortex of long bones, Short long... OMIM:601559
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis, Lower limb muscle weakness, Skeletal muscle atrophy OMIM:611225
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Skeletal muscle atrophy, Dec... ORPHA:481
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Cryptorchidism, Shagreen patch, Premature graying of hair, Abnormal hair quantity, Kyp... ORPHA:2617
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Microphthalmia, Syndromic 9
Cryptorchidism, Diaphragmatic eventration, Hypoplasia of the uterus, Bicornuate uterus, Inguinal ... OMIM:601186
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, High anterior hairline, Hirsutism, Hypoplas... ORPHA:247768
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hirsutism, Hypopla... OMIM:300510
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Classic Galactosemia
Osteoporosis, Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum ins... ORPHA:79239
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Foot dorsiflexor weakness OMIM:617087
45,X/46,Xy Mixed Gonadal Dysgenesis
Scoliosis, Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Mal... ORPHA:1772
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Sparse axillary hair, Delayed puberty, Female external genitalia in individual wi... ORPHA:90796
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Joint hypermobility, Kyphosis, Flexion contracture, Generalized amyotrophy, Spinal rig... OMIM:618323
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Increased endomysial connective ti... ORPHA:178148
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Infertility, Cirrhosis, Decreased muscle mass, Amenorrhea, Erectile dysfunction, Hy... ORPHA:465508
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short... OMIM:607143
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Lymphatic Malformation 10
Lymphedema OMIM:619369
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Smith-Magenis syndrome
Brachydactyly, Hyperactivity DECIPHER:8
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Slc35A2-Cdg
Inability to walk, Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation,... ORPHA:356961
Preeclampsia
Abnormality of the hepatic vasculature, Polycystic ovaries, Thrombocytopenia, Type I diabetes mel... ORPHA:275555
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Abnormal testis morphology, Kyphosis, Joint stiffness, Hypospadias ORPHA:1548
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Cryptorchidism, Highly arched eyebrow, Arthrogryposis multiplex congenita, Kyphosis, J... ORPHA:352490
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Urban-Rogers-Meyer Syndrome
Osteoporosis, Cryptorchidism, Camptodactyly of finger, Kyphosis, Flexion contracture of toe, Recu... ORPHA:3409
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hirsutism, Increased serum serotonin, Small for gestational age, Short stature ORPHA:85288
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Delayed puberty, Anemia, Distichiasis, Myopathy, Generalized limb muscle atr... ORPHA:2598
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Hirsutism, Female external genitalia... ORPHA:206484
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly,... ORPHA:100024
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Roifman Syndrome
Biconvex vertebral bodies, Delayed proximal femoral epiphyseal ossification, Prominent eyelashes,... ORPHA:353298
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary, Alopecia OMIM:241090
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Mcdonough Syndrome
Scoliosis, Cryptorchidism, Kyphosis, Synophrys, Cachexia, Short stature, Aplasia/Hypoplasia of th... ORPHA:2471
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Cryptorchidism, Short neck, Rhizomelia, Camptodactyly, Failure to thrive in infancy, P... OMIM:611209
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Abnormal circulating follicle-sti... ORPHA:99429
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short foot, Small hand, Hyperactivity, Talipes equinovarus, Hip dislocation OMIM:300434
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Scoliosis, Lymphopenia, Synophrys, Short stature, Kyphoscoliosis, Premature ovarian insufficiency ORPHA:391307
Schaaf-Yang Syndrome
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Camptodactyly, Flexion contracture... OMIM:615547
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Macroglossia, Joint laxity, Decreased testicular size, Kyphosis, Distal lower lim... OMIM:300354
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... ORPHA:347
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Secondary amenorrhea, Cirrhosis, Maternal diabetes, Primary amenorrh... ORPHA:79083
Rudiger Syndrome
Ovarian cyst, Flexion contracture, Bicornuate uterus, Inguinal hernia, Micropenis OMIM:268650
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Lethal Congenital Contracture Syndrome 10
Short neck, Omphalocele, Hypoplasia of the thymus, Torticollis, Intrauterine growth retardation, ... OMIM:617022
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Abnormality of the vertebral column, Hepatic cysts, Abnormality... ORPHA:400
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Testicular atrophy, Limb muscle weakness, Decreased fertility OMIM:313200
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Abnormal form of the vertebral bodies, ... ORPHA:40
Mccune-Albright Syndrome
Scoliosis, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Incr... ORPHA:562
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Premature pubarche, Hirsutism, Lumbar scoliosis, Irregular vertebral endplates, Se... OMIM:612847
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Interface hepatitis, Autoimmune hemolytic anemia, Omphalocele, Hypoplasia of t... OMIM:243150
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Kyphosis, Back pain, Disproportionate short-trunk short sta... OMIM:271530
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Growth delay, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Eiken Syndrome
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abs... ORPHA:79106
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Scoliosis, Kyphosis, Macrovesicular hepatic steatosis, Hepatomegaly, Failure to thr... OMIM:618234
Marinesco-Sjogren Syndrome
Scoliosis, Hypergonadotropic hypogonadism, Kyphosis, Flexion contracture, Centrally nucleated ske... OMIM:248800
Congenital Generalized Lipodystrophy
Low anterior hairline, Macroglossia, Cirrhosis, Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Ske... ORPHA:528
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Sandhoff Disease
Hepatomegaly, Kyphosis, Failure to thrive, Splenomegaly ORPHA:796
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Skeletal muscle hypertrophy, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Polycysti... ORPHA:2348
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Growth delay, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Partial Androgen Insensitivity Syndrome
Abnormality of secondary sexual hair, Clitoral hypertrophy, Male infertility, Micropenis, Elevate... ORPHA:90797
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Male hypogonadism, Decreased circulating parathyroid hormone level, Chronic ac... OMIM:240300
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Small for gestational age, Neoplasm of the pancreas, Low posterior hairline, Mic... ORPHA:2959
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Cryptorchidism, Scoliosis, Hepatic steatosis, Kyphosis, Lipodystrophy, Flexion cont... OMIM:615381
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Bethlem Myopathy 2
Scapular winging, Joint laxity, Kyphosis, Flexion contracture, Myopathy OMIM:616471
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Testicular atrophy, Abnormality of the diaphragm, Decreased skull ossification, Cong... OMIM:601163
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Hirsutism, Abnormality of the endometrium, Metrorrhagia, G... ORPHA:314478
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Galactosemia
Cryptorchidism, Cirrhosis, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Primary ... ORPHA:352
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Cryptorchidism, Kyphosis OMIM:618512
Syndromic Diarrhea
Hypopigmentation of hair, Thrombocytosis, Cirrhosis, Hypothyroidism, Lymphopenia, Uncombable hair... ORPHA:84064
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Leukopeni... OMIM:619151
Senior-Loken Syndrome
Congenital hepatic fibrosis, Premature ovarian insufficiency, Short stature, Abnormality of bone ... ORPHA:3156
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Hypergonadotropic hypogonadism, Kyphosis, Generalized amyotrophy, Facial pal... OMIM:615084
Immunodeficiency 54
Postnatal growth retardation, Intrauterine growth retardation, Adrenocorticotropic hormone excess... OMIM:609981
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity, Premature ovarian insufficiency, Short stature ORPHA:2928
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Anemia, Abnormal eryth... ORPHA:264580
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Hirsutism, Polycystic ovaries, Progressive ... OMIM:608709
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Kyphosis, Decreased body weight, Small for gestational age,... OMIM:618392
Aarskog-Scott Syndrome
Scoliosis, Cryptorchidism, Elevated circulating luteinizing hormone level, Joint laxity, Mild sho... OMIM:305400
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Autoimmune Polyendocrinopathy Type 4
Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Rheum... ORPHA:227990
Sialidosis Type 2
Osteoporosis, Kyphosis, Flexion contracture, Umbilical hernia, Hepatomegaly, Inguinal hernia, Ske... ORPHA:87876
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Mi... OMIM:308700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Lymphopenia, B lymphocytopenia, Failure to thrive, Absence of ... ORPHA:277
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Ragged-red muscle fibers, Kyphosis, Generalized amyotrophy, Spina... ORPHA:352447
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Delayed puberty, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte e... ORPHA:370
Autoimmune Polyendocrinopathy Type 3
Graves disease, Autoimmune thrombocytopenia, Anterior pituitary dysgenesis, Hypergonadotropic hyp... ORPHA:227982
Ruvalcaba Syndrome
Scoliosis, Cryptorchidism, Limited elbow extension, Kyphosis, Inguinal hernia, Delayed puberty, S... OMIM:180870
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, B lymphocytopenia, Failur... OMIM:601457
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Sandal gap, Abnormality of the metacarpal bones, Micrognathia, Po... ORPHA:1106
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Marked muscular hypertrophy... ORPHA:435660
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Short neck, Increased v... OMIM:300718
Xp22.13P22.2 Duplication Syndrome
Scoliosis, Sparse hair, High anterior hairline, Macroorchidism, Umbilical hernia, Polycystic ovar... ORPHA:284180
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Short stature, Kyphosis OMIM:618453
Donohue Syndrome
Ovarian cyst, Long penis, Hyperinsulinemia, Clitoral hypertrophy, Adipose tissue loss, Postnatal ... OMIM:246200
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Clitoral hypoplasia, Type ... ORPHA:398069
Disorder Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Scrotal hypoplasia, Synophrys, Reduced bone mineral density, Spina bifida o... ORPHA:2983
Pearson Syndrome
Reticulocytosis, Neutropenia, Pancreatic fibrosis, Postnatal growth retardation, Pancytopenia, Sm... ORPHA:699
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Dystonia, Ataxia, Hyperactivity OMIM:615924
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Treacher-Collins Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Low anterior hairline, Absent eyelashes, Abnor... ORPHA:861
15Q24 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Microphallus, Joint laxity, High anterior hairline, Kyphosis, Decrease... ORPHA:94065
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Hypergonadotropic hypogonadism, Rhabdomyolysis, Primary amenorrhea,... OMIM:157640
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Scoliosis, Abnormality of the menstrual cycle, Goiter, Abnormal hair quantity, Abnormal testis mo... ORPHA:457059
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Hirsutism, Polycystic ovaries, Menorrhagia,... ORPHA:2795
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Hirsutism, Lip... OMIM:604367
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Hyperlordosis, Decreased muscle mass, Congenital finger flexion c... ORPHA:536516
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Hyperprolinemia OMIM:239500
Diastrophic Dwarfism
Scoliosis, Cryptorchidism, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal form... ORPHA:628
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity OMIM:238700
Atkin-Flaitz Syndrome
Scoliosis, Joint laxity, Kyphosis, Macroorchidism, Short stature, Obesity OMIM:300431
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Platyspondyly, Aplasia of the thymus, Autoimmune thrombocytopenia, Auto... OMIM:102700
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatomegaly, Pancreatitis,... ORPHA:79084
Prolactinoma
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... ORPHA:2965
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Genital ulcers, Failure to thrive OMIM:602450
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Absent pubic hair, Hypoplasia of the uterus, Prim... OMIM:612964
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Distal Monosomy 10P
Cryptorchidism, Polycystic ovaries, Joint stiffness, Short stature, Hypoplasia of penis, Intraute... ORPHA:1580
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Secondary amenorrhea, Increased facial adipose tissue, Proximal upper ... ORPHA:280365
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Severe short stature, Thoracolumbar scoliosis, Knee flexion contracture,... OMIM:313420
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Yellow Nail Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153300
Leopard Syndrome 1
Cryptorchidism, Scapular winging, Aplasia of the ovary, Delayed puberty, Kyphoscoliosis, Spina bi... OMIM:151100
Sotos Syndrome 3
Hyperactivity OMIM:617169
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Short neck, Increased ... ORPHA:75840
Glycine Encephalopathy
Lethargy, Hyperglycinemia, Hyperactivity OMIM:605899
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Flar... OMIM:602111
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Hepatic steatosis, Flexion contracture, Intrauterine growth retardation, Alopecia, ... OMIM:619321
Prader-Willi Syndrome
Scoliosis, Cryptorchidism, Scrotal hypoplasia, Failure to thrive in infancy, Clitoral hypoplasia,... OMIM:176270
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Cowden Syndrome 1
Scoliosis, Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Thyroiditis, Lymphopenia,... OMIM:158350
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short stature, Hypospadias, Short neck, Fused cervical vertebrae, Abnorm... ORPHA:2522
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Micromelia, Sho... OMIM:250215
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Marked muscular hypertrophy, Hepatic steatosis, Lipodystr... ORPHA:435651
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Growth delay, Recurrent fractures, Aplasia/Hypoplasia of t... ORPHA:2176
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hepatomegaly, Small for gestational age, Failur... ORPHA:79237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Scoliosis, Hyperlordo... OMIM:606612
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Clinodactyly of the 5th finger, Tapered finger, Long fingers OMIM:609425
Galactosemia I
Cirrhosis, Hemolytic anemia, Hypergonadotropic hypogonadism, Hepatomegaly, Failure to thrive, Pre... OMIM:230400
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Cryptorchidism, Camptodactyly of finger, Abnormal morphology of female internal genita... ORPHA:2311
Gaucher Disease Type 1
Cirrhosis, Osteolysis, Biliary tract obstruction, Kyphosis, Growth delay, Increased bone mineral ... ORPHA:77259
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Increased circulating gonadotropin level, Amenorrhea, Irregular menstruati... OMIM:110100
Three M Syndrome 1
Hyperlordosis, Joint hypermobility, Increased vertebral height, Scapular winging, Growth delay, P... OMIM:273750
Mental Retardation, Autosomal Dominant 26
Scoliosis, Highly arched eyebrow, Arthrogryposis multiplex congenita, Kyphosis, Thick eyebrow, Sm... OMIM:615834
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Micropenis, Dec... OMIM:308750
Clark-Baraitser syndrome
Scoliosis, Joint laxity, Kyphosis, Macroorchidism, Obesity OMIM:300602
Primary Lipodystrophy
Cirrhosis, Skeletal muscle hypertrophy, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Menometror... ORPHA:90970
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Joint stiffness, Elbow f... ORPHA:98855
Camurati-Engelmann Disease
Slender build, Scoliosis, Hyperlordosis, Abnormality of the vertebral column, Abnormal subcutaneo... ORPHA:1328
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Skeletal muscle atr... OMIM:618291
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis, Short stature, Obesity OMIM:616756
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Failure to thrive, Hepatosplenome... OMIM:242700
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Microvesicular hepatic steatosis, Postnatal growth retardation, Normochromic micr... OMIM:610198
Ovarian Fibroma
Peritonitis, Abnormality of the ovary, Mesenteric cyst, Gonadal calcification, Ovarian fibroma ORPHA:314473
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... OMIM:227650
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Hypopigmentation of hair, Albinism, Kyphosis, Short stature ORPHA:2786
Wolfram Syndrome 1
Megaloblastic anemia, Hypothyroidism, Growth delay, Sideroblastic anemia, Thrombocytopenia, Testi... OMIM:222300
Pelger-Huet Anomaly
Mild short stature, Abnormality of neutrophils, Kyphosis, Lower limb hypertonia, Neutropenia, Umb... OMIM:169400
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Arthrogryposis, Distal, Type 4
Scoliosis, Low anterior hairline, Camptodactyly, Lumbar scoliosis, Kyphosis, Hypoplastic labia ma... OMIM:609128
Mosaic Trisomy 9
Scoliosis, Cryptorchidism, Camptodactyly of finger, Abnormality of the uterus, Hypoplastic female... ORPHA:99776
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Joint stiffness, Short n... ORPHA:98863
Bloom Syndrome
Recurrent tonsillitis, Azoospermia, Oligospermia, Abnormal proportion of CD8-positive T cells, Ad... ORPHA:125
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Alpha-Mannosidosis
Scoliosis, Macroglossia, Synostosis of joints, Craniofacial hyperostosis, Kyphosis, Hepatomegaly,... ORPHA:61
Wiskott-Aldrich Syndrome
Abnormality of the menstrual cycle, Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lympho... ORPHA:906
Cockayne Syndrome Type 2
Enamel hypoplasia, Cryptorchidism, Scoliosis, Male hypogonadism, Scarring, Kyphosis, Flexion cont... ORPHA:90322
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Camptodactyly, Abdominal situs inversus, Kyphosis, Asplenia OMIM:619123
Dyskeratosis Congenita, Autosomal Dominant 2
Osteoporosis, Premature graying of hair, Pancytopenia, Thrombocytopenia, Urethral stricture, Fail... OMIM:613989
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Scoliosis, Abnormality of the scrotum, Kyphosis, Lipoatrophy, Hyp... ORPHA:64755
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Hepatosplenom... OMIM:209950
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Joint laxity, Mild short stature, Atrophic scars, Kyphosis, Increased susceptibility t... OMIM:130060
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Camptodactyly of finger, Joint hyperflexibility, Kyphosis, Synophrys, Inguinal hernia,... ORPHA:85293
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypergonadotropic hypogonadism, Hypothyroidism, Abnormal subcutaneous fat tissue ... OMIM:212065
Lipodystrophy, Congenital Generalized, Type 2
Reduced intraabdominal adipose tissue, Hirsutism, Clitoral hypertrophy, Decreased fertility in fe... OMIM:269700
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Hirsutism, Biliary tract abnormality, H... OMIM:209900
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Scoliosis, Osteolysis, Posterior scalloping of vertebral bodies, Abnormal form of the vertebral b... ORPHA:3042
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, 2-3 toe syndactyly, Limb underg... OMIM:616809
22Q11.2 Deletion Syndrome
Scoliosis, Cryptorchidism, Abnormal dental enamel morphology, Short neck, Abnormality of the tons... ORPHA:567
Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Joint stiffness, Elbow f... ORPHA:261
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Joint stiffness, Elbow f... ORPHA:98853
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Thrombocytopenia, Clinodactyly o... ORPHA:3320
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Polycystic ovar... OMIM:268020
Ullrich Congenital Muscular Dystrophy 1
Slender build, Reduced muscle collagen VI, Distal joint laxity, Scoliosis, Joint laxity, Congenit... OMIM:254090
Metatropic Dysplasia
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Abnorma... OMIM:156530
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Scoliosis, Craniosynostosis, Tarsal s... ORPHA:95699
Cushing Disease
Osteoporosis, Infertility, Lipodystrophy, Recurrent fractures, Truncal obesity, Menorrhagia, Metr... ORPHA:96253
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Decreased serum leptin, Cirrhosis, Hyperinsulinemia, Reduced intr... OMIM:608594
Myotonic Dystrophy 1
Cholelithiasis, Frontal balding, Testicular atrophy, Hypogonadism, Facial diplegia OMIM:160900
Fraxe Intellectual Disability
Clinodactyly of the 5th finger, Hyperactivity ORPHA:100973
Acquired Partial Lipodystrophy