Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
androgen receptor
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ar 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 predicted to be associated to Ar by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
46,Xy Sex Reversal 4
Sex reversal, Gonadal dysgenesis OMIM:154230
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis, Congenital adrenal hypoplasia OMIM:202150
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p... OMIM:264300
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
46,Xy Sex Reversal 9
Sex reversal, Ambiguous genitalia, Gonadal dysgenesis, Fused labia minora OMIM:616067
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
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 7
Female infertility OMIM:618550
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Male hypogona... OMIM:240950
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of the menstrual cycle, Elevated circulating luteinizing hormone... OMIM:400044
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Absence of pubertal development, Primary amenorrhea, Hypogonadotrop... OMIM:614840
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Premature pubarche, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, ... OMIM:201810
Pseudovaginal Perineoscrotal Hypospadias
Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum, Perineal hypospadias, Micropenis, Abnor... OMIM:264600
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... ORPHA:163976
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Decreased circulating gonadotropin concentration, Prima... OMIM:614841
Methemoglobinemia And Ambiguous Genitalia
Ambiguous genitalia, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, Micropenis OMIM:250790
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Denys-Drash Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism ORPHA:220
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Pituitary hypothyroidism, Hypopituit... ORPHA:251623
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Labial hypoplasia, Primary amenorrh... OMIM:300068
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Primary amenorrhea, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenog... OMIM:202110
Bifid Nose, Autosomal Dominant
Cryptorchidism OMIM:109740
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... ORPHA:163971
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Frasier Syndrome
Primary amenorrhea, Ovarian gonadoblastoma, Gonadal dysgenesis, Male pseudohermaphroditism OMIM:136680
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea OMIM:145295
49,Xxxyy Syndrome
Ambiguous genitalia, Increased circulating gonadotropin level, Male hypogonadism, Eunuchoid habit... ORPHA:261534
Zebra Body Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Handgrip myot... ORPHA:97240
Ovarian Dysgenesis 8
Hypoplastic labia majora, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618187
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Increased circulating gonadotropin level, Male hypogonadism, Abnormal vagina morphol... ORPHA:168563
Currarino Syndrome
Bifid scrotum, Male pseudohermaphroditism, Hypoplasia of penis, Hypospadias, Abnormal intestine m... ORPHA:1552
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Mental Retardation, Autosomal Dominant 52
Cryptorchidism OMIM:617796
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... ORPHA:347
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Neck muscle weakness, EMG: myopathic abnormalities, Cryptorchidism, Overweight, Mildly elevated c... ORPHA:486815
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Gne Myopathy
Muscle weakness, EMG: myopathic abnormalities, Shoulder girdle muscle atrophy, Scapular winging, ... ORPHA:602
Myotonic Dystrophy 2
Oligospermia, Proximal muscle weakness, Hypogonadism, Type 2 muscle fiber atrophy, Myotonia, Elev... OMIM:602668
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Eunuchoid habitus, Breast hypoplasia, Non-obstruc... ORPHA:432
Mucocutaneous Ulceration, Chronic
Ileitis, Vaginal mucosal ulceration OMIM:618287
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis, Obesity ORPHA:85274
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Distal upper limb muscle weakness, Peroneal muscle atrophy, Increas... ORPHA:609
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
49,Xyyyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Abnormality of the test... ORPHA:99330
Myopathy, Congenital Proximal, With Minicore Lesions
Cryptorchidism, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 musc... OMIM:618823
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Bilateral cryptorchidism... ORPHA:457083
Polyembryoma
Abnormality of the endocrine system, Irregular menstruation, Macroorchidism, Increased serum sero... ORPHA:180229
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Temporal cortical atrophy, Frontal cortical atr... OMIM:167320
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Distal Myopathy, Tateyama Type
Neck muscle weakness, EMG: myopathic abnormalities, Hypercholesterolemia, Abnormal muscle fiber p... ORPHA:488650
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism, Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal musc... ORPHA:1145
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Abnormal circulating creatine kinase concentr... ORPHA:399058
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Hypogonadism, Decreased serum testosterone concentration, Failure to t... OMIM:201100
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, ... OMIM:313200
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture,... OMIM:301830
Kennedy Disease
Erectile dysfunction, Abnormal circulating lipid concentration, Testicular atrophy, Skeletal musc... ORPHA:481
Marinesco-Sjogren Syndrome
Hypergonadotropic hypogonadism, Flexion contracture, Centrally nucleated skeletal muscle fibers, ... OMIM:248800
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... OMIM:615723
Spastic Paraplegia With Precocious Puberty
Precocious puberty OMIM:182820
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Male pseudohermaphroditism OMIM:600122
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Autosomal Recessive Spastic Paraplegia Type 26
Muscle weakness, Abnormality of the urinary system, Cerebral cortical atrophy, Decreased serum te... ORPHA:101006
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Distal Myopathy With Anterior Tibial Onset
Abnormal circulating creatine kinase concentration, Intrinsic hand muscle atrophy, Weakness of th... ORPHA:178400
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Increased circulating androstenedione concentration, Long penis, Premature p... ORPHA:90795
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Myotonia of the face, Percussion myotonia, Cold paresis, Handgrip m... ORPHA:684
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Respiratory insufficie... ORPHA:178464
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Scapuloperoneal weakness, Centrally nucleated ske... OMIM:608358
Distal Nebulin Myopathy
Slender build, EMG: myopathic abnormalities, Progressive distal muscle weakness, Ankle flexion co... ORPHA:399103
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Progressive distal muscle weakness, Progressive muscle weakness, Au... OMIM:609452
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, D... ORPHA:603
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308700
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism, Arthrogryposis multiplex congenita, Centrally nucleated skeletal muscle fibers, F... OMIM:618484
Laing Early-Onset Distal Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Mildly ... ORPHA:59135
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal tissue inappropriate for external genitalia or chromosomal sex... OMIM:194080
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Proximal... OMIM:500002
Endocardial Fibroelastosis
Cryptorchidism OMIM:226000
Macrocephaly, Acquired, With Impaired Intellectual Development
Unilateral cryptorchidism OMIM:618286
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Proximal muscle weakness, Rimmed va... ORPHA:611
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Decreased serum testosterone conc... ORPHA:3044
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Nivelon-Nivelon-Mabille Syndrome
Male pseudohermaphroditism OMIM:600092
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Cryptorchidism, Microphallus, Micropenis OMIM:218450
Genitopalatocardiac Syndrome
Cryptorchidism, Gonadal dysgenesis, male, Male pseudohermaphroditism, Cleft palate, Hypospadias ORPHA:2075
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Mental Retardation, Autosomal Dominant 51
Cryptorchidism OMIM:617788
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Distal muscle w... OMIM:601846
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Myopathy, Myofibrillar, 3
Progressive distal muscle weakness, Achilles tendon contracture, Proximal muscle weakness, Distal... OMIM:609200
Bethlem Myopathy 1
Camptodactyly of finger, Congenital muscular torticollis, Respiratory insufficiency due to muscle... OMIM:158810
46,Xy Sex Reversal 6
Chordee, Gonadoblastoma, Sex reversal, Dysgerminoma, Hypospadias, Clitoral hypertrophy OMIM:613762
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Cerebral atrophy, Progressive external ophthalmoplegia, Proximal mu... OMIM:609286
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Failure to thrive, Decreased testicular size, Hypogonadism, Prem... ORPHA:261483
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Proximal muscle weakness, Distal muscle weakness, Ty... OMIM:618655
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Retinitis Pigmentosa 59
Cryptorchidism, Micropenis, Failure to thrive OMIM:613861
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Percussion myotonia, Skeletal muscle fibrosis, Generalized musc... ORPHA:34516
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Bowen-Conradi Syndrome
Cryptorchidism, Microcephaly, Severe postnatal growth retardation ORPHA:1270
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Cryptorchidism, External ophthalmoplegia, Mildly elevated creatine ... ORPHA:169189
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308750
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Progressive distal muscle weakness, ... ORPHA:399086
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal muscle weak... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Late-onset distal muscle weak... OMIM:608423
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Triceps... ORPHA:86812
Myopathy, Distal, 5
Mildly elevated creatine kinase, Facial palsy, Distal amyotrophy, Rimmed vacuoles, Myopathy, Musc... OMIM:617030
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity OMIM:617119
Renal Agenesis
Aplasia/hypoplasia of the uterus, Absent vas deferens, Anal atresia ORPHA:411709
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism, Cerebral cortical atrophy ORPHA:1568
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia, Type II diabetes mellitus, Obesity OMIM:615703
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Hypergonadotropic hypogonadism, Rhabdomyolysis, Primary amenorrhea,... OMIM:157640
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Decreased testicular size, Hypospadias OMIM:300997
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Primary amenorrhea OMIM:191830
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Flexion contracture, Lower limb muscle weakness, Prox... OMIM:300695
Faciothoracogenital Syndrome
Glandular hypospadias, Shawl scrotum, Prominent scrotal raphe OMIM:227320
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Central Core Disease Of Muscle
Muscle weakness, Centrally nucleated skeletal muscle fibers, Central core regions in muscle fiber... OMIM:117000
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism, Mildly elevated creatine kinase, Abnormal mitochondria in muscle tissue, Respirat... ORPHA:663
Distal Anoctaminopathy
Rhabdomyolysis, Proximal muscle weakness in upper limbs, Progressive muscle weakness, Distal lowe... ORPHA:399096
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, EMG: myopathic abnormalities, Amyotrophic lateral sclerosi... ORPHA:52430
Distal Myotilinopathy
EMG: myopathic abnormalities, Progressive distal muscle weakness, Abnormal muscle fiber myotilin,... ORPHA:98911
Muscular Dystrophy, Congenital, Merosin-Positive
Neck muscle weakness, Congenital muscular dystrophy, Mildly elevated creatine kinase, Flexion con... OMIM:609456
Nemaline Myopathy 2
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Mildly elevated creatine kinase... OMIM:256030
Myopathy, Distal, 4
Muscle weakness, Mildly elevated creatine kinase, Proximal muscle weakness, Distal lower limb amy... OMIM:614065
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Ichthyosis, X-Linked
Neoplasm, Cryptorchidism OMIM:308100
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal... OMIM:613530
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Cleft palate, Decreased testicular siz... OMIM:614880
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Glomerular sclerosis, Elevated circulating creatine kinase concen... OMIM:607426
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Hyperactive renin-an... ORPHA:90790
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Myotonia, Proximal muscle weakness in lower limbs, Gowers sign, Skeletal mus... OMIM:310440
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Muscle weakness, Increased muscle glycogen content, Hyperuricemia, Myotonia, Skeletal muscle atrophy ORPHA:371
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Periventricular Nodular Heterotopia 7
Cryptorchidism, Hypoplasia of the corpus callosum, Cortical dysplasia OMIM:617201
Myopathy, Spheroid Body
Muscle weakness, Proximal amyotrophy, Proximal muscle weakness, Distal muscle weakness, Skeletal ... OMIM:182920
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Myotonic Dystrophy 1
Muscle weakness, Cerebral atrophy, Cholelithiasis, Myotonia, Testicular atrophy, Hypogonadism, Fa... OMIM:160900
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Camptodactyly of finger, Intrinsic hand muscle atrophy, Peroneal muscle atrophy, Flexion contract... ORPHA:324442
Serkal Syndrome
Malrotation of small bowel, Sex reversal, Abnormal penis morphology, Hypospadias, Abnormality of ... ORPHA:139466
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness, Precocious puberty OMIM:300801
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Prostate Cancer
Prostate cancer OMIM:176807
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, External ophthalmoplegia, Increased endomysial connective tissue, D... OMIM:618940
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Myopathy And Diabetes Mellitus
Weakness of orbicularis oculi muscle, Proximal amyotrophy, Pelvic girdle muscle weakness, Achille... ORPHA:2596
Nemaline Myopathy 5
Proximal amyotrophy, Z-band streaming, Type 1 muscle fiber predominance, Progressive muscle weakn... OMIM:605355
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Obesity ORPHA:2183
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Fatiguable weakness of proximal limb muscles, Muscle fiber tubular ... ORPHA:2593
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Spontaneous abortion, Inc... ORPHA:96181
Myopathy, Myofibrillar, 5
Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Elevated circulating creat... OMIM:609524
Young Syndrome
Azoospermia OMIM:279000
Intellectual Developmental Disorder, X-Linked 103
Cryptorchidism, Micropenis OMIM:300982
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia... OMIM:610628
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Abnormality of thalamus morphology, Azoospermia, Leukoencephalopathy OMIM:613724
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Hao-Fountain Syndrome
Premature adrenarche, Cryptorchidism, Micropenis OMIM:616863
Non-Syndromic Posterior Hypospadias
Androgen insufficiency, Cryptorchidism, Bifid scrotum, Esophageal atresia, Ventral shortening of ... ORPHA:95706
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased variability in muscle fib... ORPHA:353
Symptomatic Form Of Hemochromatosis Type 1
Muscle weakness, Infertility, Increased circulating ferritin concentration, Decreased muscle mass... ORPHA:465508
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Respiratory insufficiency due to muscle weakne... ORPHA:98902
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Proximal muscle weakness, Abdominal wall muscle weakness, ... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Highly ... OMIM:618848
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Weakness of the intrinsic hand m... ORPHA:98912
Oliver-Mcfarlane Syndrome
Cryptorchidism, Delayed puberty, Small for gestational age, Hypoplasia of penis, Hypogonadotropic... OMIM:275400
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Glandular hypospadias, Cryptorchidism, Penile hypospadias, Blind vagina, Bifid scrotum, Penoscrot... ORPHA:456328
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Absent vas deferens, Pyloric stenosis, Bicornuate uterus, Papillary cystadenoma o... ORPHA:93111
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Salih Myopathy
Centrally nucleated skeletal muscle fibers, Flexion contracture, Generalized muscle weakness, Fac... OMIM:611705
Nemaline Myopathy 7
Neck muscle weakness, Muscle weakness, Respiratory insufficiency due to muscle weakness, Gowers s... OMIM:610687
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Oculopharyngodistal Myopathy
Abnormality of facial musculature, Distal upper limb muscle weakness, Fatigable weakness of bulba... ORPHA:98897
Klhl9-Related Early-Onset Distal Myopathy
Abnormal circulating creatine kinase concentration, EMG: myopathic abnormalities, Intrinsic hand ... ORPHA:399081
Minicore Myopathy With External Ophthalmoplegia
External ophthalmoplegia, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Ce... OMIM:255320
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Mildly elevated creatine kinase, Proximal muscle weakness, Muscle... OMIM:615424
Cortisone Reductase Deficiency 1
Infertility, Oligomenorrhea, Obesity OMIM:604931
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Muscle weakness, Hypercholesterolemia, Oligomenorrhea, Irregular menstruation, Rhabdomyolysis, El... ORPHA:370
Chromosome 18P Deletion Syndrome
Cryptorchidism, Small for gestational age, Decreased testicular size, Gonadal dysgenesis, Micropenis OMIM:146390
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Myopathy, Facial palsy OMIM:253320
Spinal Muscular Atrophy, Type Iii
Muscle weakness, Spinal muscular atrophy, Degeneration of anterior horn cells, Proximal muscle we... OMIM:253400
Oeis Complex
Cryptorchidism, Bifid uterus, Duplicated colon, Ambiguous genitalia, male, Ambiguous genitalia, f... OMIM:258040
Welander Distal Myopathy
Distal muscle weakness, Mildly elevated creatine kinase, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Chondrodysplasia-Disorder Of Sex Development Syndrome
Male pseudohermaphroditism ORPHA:1422
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Partington Syndrome
Macroorchidism ORPHA:94083
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscle weakness, Congenital muscular dystrophy, Skeletal muscle atrophy, Elevated circulating cre... OMIM:613204
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Aganglionic megacolon, Rectovaginal fistula, Vaginal a... OMIM:236700
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Enlarged polycy... ORPHA:64739
Spinal Muscular Atrophy, Type Iv
Proximal amyotrophy, Spinal muscular atrophy, Degeneration of anterior horn cells, Proximal muscl... OMIM:271150
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Myotonia, Hyperhidrosis, Skeletal muscle atrophy, Elevated circulating creatine kinase concentrat... OMIM:137200
Meningioma
Enlarged pituitary gland, Lower limb muscle weakness, Pituitary hypothyroidism, Obesity, Neoplasm... ORPHA:2495
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, High palate, High, narrow palate, Agang... OMIM:209900
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Bone Marrow Failure Syndrome 5
Hypogonadism, Microcephaly, Testicular atrophy OMIM:618165
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Muscle weakness, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral ... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Muscle weakness, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral ... OMIM:616437
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Scapuloperoneal weakness, Centrally nucleated skeletal muscle fiber... OMIM:255160
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Fetal Minoxidil Syndrome
Cryptorchidism, Umbilical hernia ORPHA:1918
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity OMIM:615982
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma, Breast carcinoma OMIM:167000
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95512
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, External ophthalmoplegia, Skeletal muscle hypertrophy, Flexion cont... OMIM:160150
Meckel Syndrome 12
Bifid uvula, Vaginal atresia OMIM:616258
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95513
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Decrease... ORPHA:280679
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe... ORPHA:247768
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to muscle weakness, Pro... OMIM:255310
Myotonia Congenita, Autosomal Recessive
Muscle weakness, Skeletal muscle hypertrophy, Percussion myotonia, Muscle hypertrophy of the lowe... OMIM:255700
Meacham Syndrome
Cryptorchidism, Ambiguous genitalia, Abnormal vagina morphology, Vaginal atresia, Hypoplasia of p... ORPHA:3097
Neutral Lipid Storage Disease With Myopathy
Neck muscle weakness, Increased muscle lipid content, Proximal muscle weakness, Hypertriglyceride... OMIM:610717
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism, Decreased body weight OMIM:616681
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Muscle weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness, Gowers sign, Rimmed va... OMIM:612937
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Premature thelarche, Isosexual ... ORPHA:759
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Proximal muscle weakn... ORPHA:457050
Proximal Myopathy With Extrapyramidal Signs
Mildly elevated creatine kinase, Centrally nucleated skeletal muscle fibers, Central core regions... ORPHA:401768
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Image Syndrome
Cryptorchidism, Hypogonadism, Adrenal hypoplasia, Hypospadias ORPHA:85173
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimuation test OMIM:612781
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Agenesis of corpus callosum, Gonadal tissue inappropriate for e... ORPHA:261519
Myopathy, Distal, With Anterior Tibial Onset
Distal muscle weakness, Myopathy, Distal amyotrophy, Elevated circulating creatine kinase concent... OMIM:606768
Spinal Muscular Atrophy, Type Ii
Muscle weakness, Spinal muscular atrophy, Degeneration of anterior horn cells, Skeletal muscle at... OMIM:253550
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Muscle weakness, Renal insufficiency, Myoglobinuria OMIM:255110
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Muscle weakness, Spinal muscular atrophy, Respiratory insufficiency due to muscle weakness, Progr... ORPHA:254875
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Progressive muscle weakness, Elevated circulating creatine kinase conce... OMIM:619024
Bethlem Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Reduced muscle collagen VI, Muscular dystroph... ORPHA:610
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Flexion contracture, Episodic flaccid weakness, Hyponatremia, Myoton... ORPHA:682
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness, Neck flexor weakness OMIM:609273
46,Xy Ovotesticular Disorder Of Sex Development
Ambiguous genitalia, Ovotestis, Urogenital sinus anomaly, Bifid scrotum, Chordee, Gonadoblastoma,... ORPHA:325345
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Absence of labia majora, Hypoplastic labia minora, Decreased serum testosterone c... ORPHA:495875
Amyotrophic Lateral Sclerosis 16, Juvenile
Muscle weakness, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal ... OMIM:614373
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, External ophthalmoplegia, C... ORPHA:598
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Rippling Muscle Disease 2
Muscle mounding, Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contraction... OMIM:606072
Myopathy, Myofibrillar, 8
Neck muscle weakness, Muscle weakness, Scapular winging, Centrally nucleated skeletal muscle fibe... OMIM:617258
Gordon Syndrome
Cryptorchidism, High palate, Cleft palate ORPHA:376
N Syndrome
Neoplasm, Cryptorchidism, Leukemia, Hypospadias OMIM:310465
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, ... OMIM:300717
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Abnormal periventricular white matter morphology, Centrally nucleated skeletal muscle fibers, Hig... OMIM:618992
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Hypergonadotropic hypogonadism, Respiratory insufficiency due to muscle... ORPHA:352447
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Respiratory insufficiency due to muscle weakness,... ORPHA:424107
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Organic aciduria, M... OMIM:255100
Congenital Multicore Myopathy With External Ophthalmoplegia
Cryptorchidism, External ophthalmoplegia, Muscular dystrophy, Scrotal hypoplasia, Muscle fiber hy... ORPHA:98905
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft palate OMIM:612370
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Obesity OMIM:184700
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Pelvic girdle m... ORPHA:254361
Duchenne Muscular Dystrophy
Flexion contracture, Proximal muscle weakness, Progressive muscle weakness, Skeletal muscle atrop... ORPHA:98896
3Q13 Microdeletion Syndrome
Cryptorchidism, Agenesis of corpus callosum, Hypoplasia of penis ORPHA:1621
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Cryptorchidism, Submucous cleft soft palate, Male pseudohermaphroditism, Hypospadias, Cleft soft ... ORPHA:2282
Inclusion Body Myositis
Distal muscle weakness, Inflammatory myopathy, Rimmed vacuoles, Proximal muscle weakness OMIM:147421
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Protein-losing enteropath... ORPHA:1655
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Increased variability in muscle fib... ORPHA:171442
Myofibrillar Myopathy 10
Muscle weakness, EMG: myopathic abnormalities, Flexion contracture of finger, Percussion myotonia... OMIM:619040
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Cryptorchidism, Myopathy, Adrenocortical hypo... ORPHA:408
Adrenomyodystrophy
Megacystis, Primary adrenal insufficiency, Abnormality of the urinary system, Failure to thrive, ... ORPHA:977
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Proximal muscle weakness, Distal muscle weakness, Progressive musc... OMIM:608627
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia, Anal atresia ORPHA:3301
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Increased serum pyruvate, Ragged-red muscle fibers, Myopathy OMIM:545000
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Mehmo Syndrome
Cryptorchidism, External genital hypoplasia, Hypoplasia of penis, Diabetes mellitus, Micropenis, ... ORPHA:85282
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Muscle weakness, Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sc... OMIM:105550
Amyotrophic Lateral Sclerosis 1
Muscle weakness, Degeneration of the lateral corticospinal tracts, Degeneration of anterior horn ... OMIM:105400
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Progressive muscle weakness, Delayed puberty, Failu... OMIM:600462
Pontocerebellar Hypoplasia, Type 1A
Muscle weakness, Basal ganglia gliosis, Spinal muscular atrophy, Congenital contracture, Degenera... OMIM:607596
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased testicular size, Azoospermia, Decreased response to gro... OMIM:300845
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Bethlem Myopathy 2
Muscle weakness, Scapular winging, Flexion contracture, Elevated circulating creatine kinase conc... OMIM:616471
Childhood-Onset Nemaline Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Slender build, Arthrogryposis multiplex conge... ORPHA:171439
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Partial vaginal septum, Dyspareunia, Abnormality of the uterine cervix, Metrorrhagia... ORPHA:3411
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Oligomenorrhea, Irregular menstruation, Myoglobinuria, Elevated circulating... ORPHA:264580
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Spinal muscular atrophy, Progressive distal muscular atrophy, Degeneration of anterior horn cells... OMIM:159950
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Amyotrophic Lateral Sclerosis 9
Distal muscle weakness, Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Ambiguous genitalia, Macroglossia, Aganglionic megacolon, Male pseudohermaphrodit... ORPHA:847
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
Mental Retardation, Autosomal Dominant 47
Cryptorchidism, Cerebral atrophy, Microcephaly OMIM:617635
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle weakness, Internally nucleated skeletal muscle fibers, Proximal muscle weakness, Distal mu... OMIM:618654
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Tetralogy Of Fallot
Cryptorchidism ORPHA:3303
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Widow'S Peak Syndrome
Cryptorchidism, Shawl scrotum OMIM:314570
Serrated Polyposis Syndrome
Biliary tract neoplasm, Prostate cancer, Ovarian neoplasm, Germ cell neoplasia, Colorectal polypo... ORPHA:157798
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Hypoplasia of the corpus callosum, Respiratory insufficiency due to muscle weakne... OMIM:616816
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Azoospermia, Amenorrhea, Increased serum iron, Impo... OMIM:235200
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, P... ORPHA:169186
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos, Amenorrhea OMIM:237100
Myoglobinuria, Autosomal Dominant
Muscle weakness, Acute kidney injury, Myoglobinuria OMIM:160010
Silver-Russell Syndrome 3
Cryptorchidism, Ambiguous genitalia, Decreased body weight, Hypospadias OMIM:616489
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle weakness, EMG: myopathic abnormalities, Decreased muscle mass, Acute kidney injury, Viral ... ORPHA:57
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Progressive external ophthalmoplegia, Elevated creatine kinase after exercise, Gow... ORPHA:352470
Myopathy, Myofibrillar, 2
Neck muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency... OMIM:608810
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Muscle weakness, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness,... OMIM:612069
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Steinert Myotonic Dystrophy
Neck muscle weakness, Hypercholesterolemia, Male hypogonadism, Handgrip myotonia, Pelvic girdle m... ORPHA:273
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:262710
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:613954
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:300123
Spinal Muscular Atrophy, Infantile, James Type
Muscle weakness, Lower limb muscle weakness, Distal muscle weakness, Type 1 muscle fiber predomin... OMIM:619042
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Bifid scrotum ORPHA:1547
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Myopathy, Distal, 1
Neck muscle weakness, Mildly elevated creatine kinase, Proximal muscle weakness, Distal muscle we... OMIM:160500
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Muscle weakness, Increased serum pyruvate, Increased intramyocellular lipid droplets, Weakness of... OMIM:619062
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Scapuloperoneal weakness, Flexion contracture, Proximal muscle weakness, Rimmed... OMIM:300696
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Mmep Syndrome
Cryptorchidism, Microcephaly ORPHA:3434
Myopathy, Tubular Aggregate, 1
External ophthalmoplegia, Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic han... OMIM:160565
46,Xx Gonadal Dysgenesis