Gene Summary

Name:
Ewing sarcoma breakpoint region 1
Synonyms:
Ews

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
edema Ewsr1tm1b(EUCOMM)Wtsi HET 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 1.73×10-05
increased grip strength Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 4.37×10-06
hyperactivity Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 6.30×10-06
edema Ewsr1tm1b(EUCOMM)Wtsi HOM E15.5 0.00
increased circulating alkaline phosphatase level Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 5.65×10-05
increased lymphocyte cell number Ewsr1tm1b(EUCOMM)Wtsi HET   Early adult 8.18×10-05
short tibia Ewsr1tm1b(EUCOMM)Wtsi HET Early adult 2.80×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

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

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

Anatomy Background staining in controls (WT)

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

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

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

36 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

Histopathology

Images

1 Images

Immunophenotyping

Panel B FCS file(s)

5 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Human diseases caused by Ewsr1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Cachexia, Mediastinal lymphadenopathy, ... 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, Facial edema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Lymphatic Malformation 2
Lymphedema OMIM:611944
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Ring Chromosome Y Syndrome
Female infertility, Ambiguous genitalia, female, Streak ovary, Abnormality of the male genitalia,... ORPHA:261529
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Flattened femoral head, Leukocytosis, Congenital hip disl... ORPHA:168621
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy, Decreased testicular size, Hypogonadism, Abnormality of ... ORPHA:1875
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity OMIM:238700
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Lymphopenia, Short stature, Hypergonadotropic hypog... OMIM:617053
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombocytopenia, Abnorma... ORPHA:93323
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Osteopenia, Primary amenorrhea, Secondary amenorrhea, Increased fem... ORPHA:432
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
46,Xx Gonadal Dysgenesis
Streak ovary, Short stature, Osteopenia, Reduced bone mineral density, Primary amenorrhea, Gonada... ORPHA:243
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Osteopenia, Pr... ORPHA:2232
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Chilblain Lupus 2
Edema OMIM:614415
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, ... OMIM:603554
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility, Inguinal hernia OMIM:261550
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Oocyte Maturation Defect 10
Female infertility OMIM:619176
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... OMIM:617241
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short ... ORPHA:2235
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte... OMIM:300400
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Ovarian Dysgenesis 2
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... OMIM:300510
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Aromatase Deficiency
Growth delay, Generalized hirsutism, Female infertility, Ambiguous genitalia, female, Eunuchoid h... ORPHA:91
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Lymphatic Malformation 3
Lymphedema OMIM:613480
Familial Hyperprolactinemia
Amenorrhea, Infertility, Osteopenia, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Osteo... ORPHA:397685
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Delayed men... ORPHA:52901
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogonad... ORPHA:3085
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
Satoyoshi Syndrome
Amenorrhea, Alopecia universalis, Abnormal hair morphology, Hypoplasia of the uterus, Hypoplasia ... ORPHA:3130
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Bardet-Biedl Syndrome
Generalized hirsutism, Hypoplasia of the ovary, Hypoplasia of penis, Short stature, Short neck, H... ORPHA:110
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Pure red cell aplasia, Hypogonadism, Anemia OMIM:618165
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Fetal Akinesia Deformation Sequence 4
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Cry... OMIM:618393
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Insulin-Like Growth Factor I Deficiency
Radial deviation of finger, Micrognathia, Hyperactivity, Clinodactyly OMIM:608747
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame... OMIM:615300
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
White Sponge Nevus 2
Edema OMIM:615785
Gracile Bone Dysplasia
Failure to thrive, Short stature, Micropenis, Hypoplastic spleen, Decreased skull ossification, A... OMIM:602361
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Hepatomegaly, Lymphopenia, Inguinal hernia, Splenomegaly, Anemia, Hypoplasia o... OMIM:612541
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Hypoplasia of the ovary, Premature ovarian insufficiency, Osteoscle... OMIM:609993
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Micropenis, Short stature, Cervical spinal canal stenosis, Scoliosis, Delayed puberty, ... OMIM:301900
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Oocyte Maturation Defect 11
Female infertility OMIM:619643
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
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia, Short stature, Hypoplasia of the thymus, T lymphocytopenia, Acute... OMIM:208900
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Ataxia-Telangiectasia
Failure to thrive, Type II diabetes mellitus, Lymphopenia, Short stature, Hypopigmentation of hai... ORPHA:100
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Joint contracture of the hand, ... OMIM:214110
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finger, Scoliosis, Osteo... ORPHA:48431
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Abnormal hair morphology, Macroor... ORPHA:3000
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Increased endomysial connective tissue, ... OMIM:618484
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Inguinal hernia, Sparse axillary hair, Male pseudohermaphroditism, Abs... ORPHA:754
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Alopecia, Splenomegaly, Hypogonadotropic... OMIM:235200
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low... OMIM:602450
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hirsutism, Hypoplasia of the uterus, Thick eyebrow, Increased serum t... ORPHA:247768
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Widow'S Peak Syndrome
Kyphosis, Inguinal hernia, Short stature, Hip osteoarthritis, Shawl scrotum, Widow's peak, Arthra... OMIM:314570
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... ORPHA:280356
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Female infertility, Short stature, Skeletal muscle autophagosome accumulation,... OMIM:619518
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Premature graying of hair, Lipoatrophy, Abnormal hair qu... ORPHA:2617
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Skeletal muscle atrophy, Dec... ORPHA:481
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Congenital diaphragmatic hernia, Bicornuate uterus, Inguinal hernia, Mu... OMIM:601186
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis, Lower limb muscle weakness, Skeletal muscle atrophy OMIM:611225
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Kyphosis, Short neck, Scoliosis, Neonatal death, Arthrogryposis multiplex congen... OMIM:611890
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Nonprogressive muscular atrophy, Scoliosis, Hyperlordosis, Spinal musc... OMIM:600175
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
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
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism ORPHA:393
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Foot dorsiflexor weakness OMIM:617087
Smith-Magenis syndrome
Hyperactivity, Brachydactyly DECIPHER:8
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Parastremmatic Dwarfism
Kyphosis, Severe short stature, Flexion contracture, Short neck, Scoliosis OMIM:168400
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased serum te... ORPHA:465508
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Pituitary gonadotropic cell aden... ORPHA:91348
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Lymphatic Malformation 10
Lymphedema OMIM:619369
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Hirsutism, Gonadal dysgenesis with fe... ORPHA:206484
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Xp22.3 Microdeletion Syndrome
Short stature, Hypogonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries, Sacral di... ORPHA:1643
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Alopecia, Streak ovary OMIM:241090
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Short n... ORPHA:178148
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Hypospadias, Scoliosis, Abnormal testis morphology ORPHA:1548
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Urban-Rogers-Meyer Syndrome
Kyphosis, Recurrent fractures, Hypoplasia of penis, Short stature, Camptodactyly of finger, Short... ORPHA:3409
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Talipes equinovarus, Small hand, Short foot, Hip dislocation OMIM:300434
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility, Myopathy, General... OMIM:618323
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Joint contracture of the hand, Inguinal hernia, Small for gestational age, Short statur... ORPHA:352490
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... OMIM:607143
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Cryptorchidism, Hypospadias, Osteopenia, Shor... OMIM:611209
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Roifman Syndrome
Hip contracture, Short stature, Delayed proximal femoral epiphyseal ossification, Hypogonadotropi... ORPHA:353298
Classic Galactosemia
Hepatomegaly, Reduced bone mineral density, Oligomenorrhea, Primary amenorrhea, Abnormal erythroc... ORPHA:79239
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hirsutism, Kyphosis, Short stature, Small for gestational age ORPHA:85288
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Mcdonough Syndrome
Kyphosis, Short stature, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosi... ORPHA:2471
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Kyphosis, Macroglossia, Micropenis, Short stature, Hypospadias, Joint laxity, ... OMIM:300354
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis, Generalized limb muscle atrophy, Distichiasis, Delayed puberty, Anemia, Myop... ORPHA:2598
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Enamel hypoplasia, Thrombocytosis, Impaired ... OMIM:243150
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Testicular atrophy, Limb muscle weakness, Decreased fertility OMIM:313200
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Growth delay, Lymphadenopathy OMIM:619164
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Sparse a... ORPHA:99429
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Lethal Congenital Contracture Syndrome 10
Torticollis, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Omphalocele, Stiff neck, I... OMIM:617022
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo... ORPHA:347
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, Failure to thrive... OMIM:618987
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Osteoporosis, Weight loss, Osteolysis, Anemia,... ORPHA:100024
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... ORPHA:40
Marinesco-Sjogren Syndrome
Failure to thrive, Kyphosis, Flexion contracture, Short stature, Hypergonadotropic hypogonadism, ... OMIM:248800
Ovarian Fibrothecoma
Increased serum testosterone level, Hirsutism, Abnormal endometrium morphology, Metrorrhagia, Per... ORPHA:314478
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Schaaf-Yang Syndrome
Kyphosis, Thick eyebrow, Flexion contracture, Micropenis, Short stature, Scoliosis, Camptodactyly... OMIM:615547
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Growth delay, Anemia, Thrombocytopenia ORPHA:169079
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Sandhoff Disease
Kyphosis, Failure to thrive, Hepatomegaly, Splenomegaly ORPHA:796
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Cryptorchidism, Prolonged neonatal jaundice OMIM:618512
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Hepatomegaly, Flexion contracture, Scoliosis, Osteoporosis, Lipodystrophy, Hypogonadism... OMIM:615381
Slc35A2-Cdg
Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, Aplasia/hypoplasia i... ORPHA:356961
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Atrophi... OMIM:616471
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Osteoporo... OMIM:618234
Brachyolmia Type 1, Hobaek Type
Kyphosis, Squared-off platyspondyly, Back pain, Osteopenia, Short neck, Scoliosis, Disproportiona... OMIM:271530
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Severe short stature, Flexion contracture, B lymphocytopenia OMIM:619851
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Eunuchoid habitus, Leydig cell in... OMIM:308700
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... OMIM:251230
Syndromic Diarrhea
Short stature, Woolly hair, Hepatomegaly, Brittle hair, Inguinal hernia, Hepatoblastoma, Splenome... ORPHA:84064
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Kyphosis, Proximal muscle weakness in lower limbs, Scoliosis, Lower limb amyotro... OMIM:615290
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis, Nail dystrophy, Pancytopenia, Bone marrow hypocellularity, Growth ... OMIM:613987
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... OMIM:305400
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Short neck, Scoliosis, Increased... OMIM:300718
Immunodeficiency 54
Adrenal insufficiency, Failure to thrive, Intrauterine growth retardation, Adrenocorticotropic ho... OMIM:609981
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Short stature, Scoliosis, Foot dorsiflexor weakness, Obesity, Premature ovarian insuffi... OMIM:618124
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Omphalocele, D... OMIM:601163
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Weakness of facial musculature, Neurop... ORPHA:352447
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Primary amenorrhea, Secondary amenorrhea, Polycystic ovaries, Loss of... ORPHA:79083
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Facial palsy, Generalized amyotrophy, ... OMIM:615084
15Q24 Microdeletion Syndrome
Failure to thrive, Kyphosis, Postnatal growth retardation, Congenital diaphragmatic hernia, Decre... ORPHA:94065
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... OMIM:619924
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Postnatal growth retardation, Dysmenorrhea, Splenomegaly, Short stature, Cirrhosis,... ORPHA:79240
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Bone cyst, Ovarian cyst,... ORPHA:400
Ruvalcaba Syndrome
Kyphosis, Inguinal hernia, Short stature, Scoliosis, Limited elbow extension, Delayed puberty, Cr... OMIM:180870
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Decreased body weight, Delayed ossification of carpal bones, Short stature, Small for g... OMIM:618392
Sialidosis Type 2
Kyphosis, Hepatomegaly, Inguinal hernia, Flexion contracture, Splenomegaly, Short stature, Osteop... ORPHA:87876
Winchester Syndrome
Kyphosis, Hirsutism, Generalized osteoporosis, Carpal osteolysis, Osteolysis involving tarsal bones OMIM:277950
Woodhouse-Sakati Syndrome
Growth delay, Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone st... ORPHA:3464
Rudiger Syndrome
Bicornuate uterus, Flexion contracture, Inguinal hernia, Ovarian cyst, Micropenis OMIM:268650
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Hypoplasia of penis, Small scrotum, Reduced bone mineral density, Short neck, Abnormal ... ORPHA:2983
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Mccune-Albright Syndrome
Pancreatitis, Abnormal endocrine physiology, Ovarian cyst, Cholestasis, Hepatocellular adenoma, I... ORPHA:562
Autoimmune Polyendocrinopathy Type 4
Thymoma, Alopecia, Hypergonadotropic hypogonadism, Osteopenia, Leukopenia, Rheumatoid arthritis, ... ORPHA:227990
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hypertrichosis, Low anterior hairli... ORPHA:528
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Hirsutism, Abnormality of the urethra, Oligomenorrhea, Menorrhagia, Polycystic ovarie... ORPHA:2795
Autoimmune Polyendocrinopathy Type 3
Thymoma, Graves disease, Alopecia, Hypergonadotropic hypogonadism, Osteopenia, Leukopenia, Rheuma... ORPHA:227982
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hypoplastic spleen, Pancytopenia, Bone marrow hy... ORPHA:699
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymph... ORPHA:277
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Kyphosis, Flexion contracture, Neonatal death, Intrauterine growth retardation... OMIM:618237
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Failure to thrive, Low anterior hairline, Hypoplasia of penis,... ORPHA:861
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... OMIM:619938
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Lipoatrophy, Pancreatitis, Dysmenorrhea, Cellulitis, Hepatomegaly, Splenom... ORPHA:2348
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, B lymphocytopenia, Arthritis, T lymphocytopenia, Failure to thrive secondary t... OMIM:601457
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Clinodactyly OMIM:300928
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, I... ORPHA:398069
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature, Camptodactyly OMIM:618453
Diastrophic Dysplasia
Kyphosis, Joint stiffness, Neonatal short-limb short stature, Increased bone mineral density, Cam... ORPHA:628
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormality of the menstru... ORPHA:906
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Congenital diaphragmatic hernia, Inguinal hernia, Short ... ORPHA:2311
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Intrauterine growth retardation, Hypoplasia of the ovary, Flexion contracture,... OMIM:619321
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Alopecia universalis, Hypoparathyroidism, Chronic active hepatitis, Adrenal insuf... OMIM:240300
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Atkin-Flaitz Syndrome
Kyphosis, Short stature, Scoliosis, Joint laxity, Obesity, Macroorchidism OMIM:300431
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Impotence, Decreased fertility in males, Central adrenal insuffi... ORPHA:91349
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Eunuchoid habitus, Leydig cell insensitivity to gonadotropin, Micropenis, Hyp... OMIM:308750
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec... ORPHA:1916
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Polycystic ov... ORPHA:264580
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Failure to thrive, Kyphosis, Kyphoscoliosis, Joint contracture of th... ORPHA:536516
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, ... ORPHA:75840
Camurati-Engelmann Disease
Slender build, Kyphosis, Cortical thickening of long bone diaphyses, Hepatomegaly, Limitation of ... ORPHA:1328
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Ovarian Fibroma
Mesenteric cyst, Peritonitis, Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Cowden Syndrome 1
Hydrocele testis, Kyphosis, Lymphopenia, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism... OMIM:158350
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Polycystic ov... ORPHA:370
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Postnatal growth retardation, Hypospadias, Decreased testicular... OMIM:610198
Leopard Syndrome 1
Kyphoscoliosis, Hypoplasia of the ovary, Micropenis, Delayed menarche, Hypospadias, Short stature... OMIM:151100
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal reticulocyte morphology, Short stature, Hypospadias, Short neck, Hyperlordosis... ORPHA:2522
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision ci... OMIM:242700
Three M Syndrome 1
Growth delay, Increased vertebral height, Thick eyebrow, Small for gestational age, Short stature... OMIM:273750
Clark-Baraitser syndrome
Kyphosis, Scoliosis, Joint laxity, Obesity, Macroorchidism OMIM:300602
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... OMIM:301082
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Kyphosis, Sclerosis of skull base, Severe short stature, Hyperextensibility of t... OMIM:313420
Becker Nevus Syndrome
Kyphosis, Lipoatrophy, Supernumerary nipple, Scoliosis, Spina bifida occulta, Shoulder girdle mus... ORPHA:64755
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Low anterior hairline, Osteopenia, Camptodactyly of 2nd-5th fingers, Scoli... OMIM:609128
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Micropenis, Craniosynostosis, Hypospadias,... OMIM:614732
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities,... OMIM:606612
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Hyperextensibility of the finger joints, Frontal upsweep of hair, Scoliosis, Cryptorchi... OMIM:619797
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Abnormality of the lymph nodes, Hepatosplenomegaly, Oligospermia, Male infertility,... ORPHA:85450
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hepatomegaly, Decreased adiponectin level, Skeletal mus... ORPHA:435660
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Gaucher Disease Type 1
Kyphosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Oste... ORPHA:77259
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, ... OMIM:619824
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, Testicular atrophy, Hypergonadotropic hypogonadism, EMG: myopathic abnorma... OMIM:157640
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Short stature, Scoliosis, Obesity OMIM:616756
Cockayne Syndrome Type 2
Kyphosis, Hepatomegaly, Flexion contracture, Limb hypertonia, Scoliosis, Enamel hypoplasia, Male ... ORPHA:90322
Prader-Willi Syndrome
Hyperinsulinemia, External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasi... OMIM:176270
Mosaic Trisomy 9
Hypoplasia of penis, Abnormal liver lobulation, Hemivertebrae, Camptodactyly of finger, Short nec... ORPHA:99776
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Abdominal situs inversus, Camptodactyly, Cryptorchidism, Asplenia OMIM:619123
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Skeletal muscle atr... OMIM:618291
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Precocious puberty, Abn... ORPHA:457059
Digeorge Syndrome
Hydrocele testis, Cholelithiasis, Ovarian cyst, Abnormality of the thymus, Umbilical hernia, Para... OMIM:188400
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Failure to thrive, Kyphosis, Facial myokymia, Short stature OMIM:620007
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98855
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Craniosynostosis, Decr... ORPHA:95699
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Pigmented m... OMIM:610475
22Q11.2 Deletion Syndrome
Cholelithiasis, Short neck, Abnormality of the tonsils, Umbilical hernia, Intrauterine growth ret... ORPHA:567
Donohue Syndrome
Hypertrichosis, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Ovarian cyst, Cho... OMIM:246200
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Infertility, Scoliosis, Lower limb muscle weakness, Limb muscle weakness OMIM:614409
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Sparse pubic ha... OMIM:110100
Pelger-Huet Anomaly
Failure to thrive, Kyphosis, Neutropenia, Lower limb hypertonia, Hyposegmentation of neutrophil n... OMIM:169400
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Thrombocytopenia, Hypothyroidism, Diabetes mellitus, Gr... OMIM:222300
Alpha-Mannosidosis
Kyphosis, Type II diabetes mellitus, Hepatomegaly, Inguinal hernia, Splenomegaly, Macroglossia, S... ORPHA:61
Fanconi Anemia, Complementation Group A
Neutropenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemia, Short stature, Th... OMIM:227650
Noonan Syndrome 14
Kyphosis, Lymphopenia, Sparse hair, Sparse eyebrow, Short stature, Scapular winging, Short neck, ... OMIM:619745
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... OMIM:209950
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Short stature, Platyspondyly, Hypopigmentation of hair, Osteoporosis, Albinism ORPHA:2786
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Hypoplasia of penis, Inguinal hernia, Short stature, Cachexia, Camptodactyly of finger,... ORPHA:85293
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Hypoplasia of penis, Short stature, Aplasia/Hypoplasia of the eyebrow, Hernia of the ab... ORPHA:3082
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Intrauterine growth retardation, Thick eyebrow, Inguinal hernia, Small for gestational ... OMIM:615834
Primary Lipodystrophy
Type II diabetes mellitus, Lipoatrophy, Pancreatitis, Splenomegaly, Skeletal muscle hypertrophy, ... ORPHA:90970
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Polysplenia, Abnormal sperm motility, Asplenia ORPHA:244
Myotonic Dystrophy 1
Cholelithiasis, Facial diplegia, Testicular atrophy, Frontal balding, Hypogonadism OMIM:160900
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Acroosteolysis of distal phalang... ORPHA:280365
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Shagreen patch, Thymus hyperplasia, Subcutane... ORPHA:2969
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... ORPHA:1988
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Irregular vertebral endplates, Hip contracture, Kyphosis, Bone cyst, Flexion contracture, Short s... ORPHA:3042
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymph... OMIM:102700
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Alopecia, Short stature, Leukopenia, Aplastic anemia, Osteoporosis, Fi... OMIM:613990
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Metatropic Dysplasia
Kyphosis, Joint stiffness, Severe short stature, Coarse metaphyseal trabecularization, Camptodact... ORPHA:2635
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Osteopenia, Scoliosis, Joint laxity, Premature osteoarthritis, Atrophic scars, Increase... OMIM:130060
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Marden-Walker Syndrome
Kyphosis, Joint contracture of the hand, Inguinal hernia, Micropenis, Hypospadias, Short neck, Sc... OMIM:248700
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
47,Xyy Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level, Micropenis, Hypospa... ORPHA:8
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... OMIM:227270
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Prolactinoma
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Osteopenia, ... ORPHA:2965
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Ullrich Congenital Muscular Dystrophy 1
Slender build, Failure to thrive, Kyphosis, Muscle fiber necrosis, Torticollis, Spinal rigidity, ... OMIM:254090
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Decreased adiponectin level, Skeletal muscle hypertrophy, Loss of glu... ORPHA:435651
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia