Gene Summary

Name:
mevalonate kinase
Synonyms:
2310010A05Rik

IMPC Data Collections

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
small epididymis Mvkem1(IMPC)Tcp HET Early adult 0.00
small seminal vesicle Mvkem1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Mvkem1(IMPC)Tcp HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Mvkem1(IMPC)Tcp HOM   E12.5 0.00
microphthalmia Mvkem1(IMPC)Tcp HET Early adult 0.00
small testis Mvkem1(IMPC)Tcp HET Early adult 0.00
abnormal embryo size Mvkem1(IMPC)Tcp HET E9.5 0.00
hydrometra Mvkem1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to organogenesis Mvkem1(IMPC)Tcp HOM   E9.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

5 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Histopathology

Images

4 Images

Human diseases caused by Mvk 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 Mvk by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyper-Igd Syndrome
OMIM:260920
Hyperimmunoglobulinemia D With Periodic Fever
ORPHA:343
Mevalonic Aciduria
OMIM:610377
Porokeratosis Of Mibelli
ORPHA:735
Disseminated Superficial Actinic Porokeratosis
ORPHA:79152
Porokeratosis 3, Multiple Types
OMIM:175900
Mevalonic Aciduria
ORPHA:29

The table below shows human diseases predicted to be associated to Mvk by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Hypospadias ORPHA:141333
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... ORPHA:755
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia ORPHA:363741
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia OMIM:615524
Fryns Microphthalmia Syndrome
Unicornuate uterus, Anophthalmia, Microphthalmia OMIM:600776
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cryptorchidism, Microphthalmia OMIM:601794
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microphthalmia ORPHA:2528
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... OMIM:617442
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Nanophthalmos
Microphthalmia ORPHA:35612
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Cryptorchidism, Go... OMIM:194072
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Microphthalmia OMIM:613730
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Mullerian Aplasia And Hyperandrogenism
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... OMIM:158330
Cofs Syndrome
Hypogonadism, Microphthalmia ORPHA:1466
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Micropenis, Optic nerv... OMIM:610125
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Microphthalmia OMIM:600118
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Anophthalmia, Cryptorchidism, Microphthalmia, Aplasi... ORPHA:2470
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:2547
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Meckel Syndrome, Type 8
Ambiguous genitalia, Anophthalmia, Microphthalmia OMIM:613885
Pierpont Syndrome
Micropenis, Cryptorchidism, Microphthalmia OMIM:602342
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Non... ORPHA:432
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... ORPHA:90796
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Bresek Syndrome
Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia ORPHA:85284
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hypospadias ORPHA:77298
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Joubert Syndrome 37
Micropenis, Decreased testicular size, Cryptorchidism, Microphthalmia OMIM:619185
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Small scrotum, Microphthalmia OMIM:610756
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis, Microphthalmia ORPHA:335
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Developmental And Epileptic Encephalopathy 1
Micropenis, Microphthalmia OMIM:308350
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Hydrolethalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Bilateral cryptorchidism OMIM:618652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:139471
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Small scrotum, Cryptorchidism, Microphthalmia ORPHA:228390
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Seckel Syndrome 2
Hypospadias, Microphthalmia OMIM:606744
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Microphthalmia, Hypospadias ORPHA:2505
Warburg Micro Syndrome 4
Small scrotum, Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis OMIM:615663
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Trisomy 13
Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Displacement of t... ORPHA:3378
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia ORPHA:2788
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Anophthalmia, Microphthalmia OMIM:248450
Moebius Syndrome
Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism, Microphthalmia OMIM:157900
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis OMIM:614225
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Ovarian carcinoma, Microphthalmia OMIM:617883
Warburg Micro Syndrome 3
Small scrotum, Decreased testicular size, Microphthalmia, Micropenis, Hypoplastic labia minora OMIM:614222
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Microphthalmia OMIM:214150
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Microphthalmia, Increased circulating gon... OMIM:110100
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Cryptorchidism, Microphthalmia ORPHA:2728
Kapur-Toriello Syndrome
Hypoplastic labia majora, Hypoplasia of penis, Microphthalmia ORPHA:2328
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid... OMIM:241410
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Micro Syndrome
Cryptorchidism, Delayed puberty, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, C... ORPHA:2510
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Baraitser-Winter Syndrome 1
Micropenis, Cryptorchidism, Microphthalmia OMIM:243310
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplas... ORPHA:2250
Gracile Bone Dysplasia
Micropenis, Aniridia, Microphthalmia OMIM:602361
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Septo-optic dysplasia, Cryptorchidism, Microphthalmia ORPHA:3301
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism, Microphthalmia ORPHA:494344
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... ORPHA:90794
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Microphthalmia OMIM:619135
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cryptorchidism, Microphthalmia OMIM:618494
Kapur-Toriello Syndrome
Micropenis, Hypoplastic labia majora, Cryptorchidism, Microphthalmia OMIM:244300
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Bilateral cryptorchidism OMIM:616395
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Temtamy Syndrome
Microphthalmia ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Congenital Rubella Syndrome
Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Lissencephaly 8
Microphthalmia OMIM:617255
Marden-Walker Syndrome
Micropenis, Hypospadias, Cryptorchidism, Microphthalmia OMIM:248700
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Microphthalmia With Limb Anomalies
Unilateral cryptorchidism, Anophthalmia, Microphthalmia OMIM:206920
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Microphthalmia ORPHA:404440
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituit... OMIM:206900
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Primary ... OMIM:603457
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:899
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Cryptorchidism, Microphthalmia OMIM:613001
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... OMIM:146255
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias, Anophthalmia, Microphthalmia OMIM:615877
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Pseudotrisomy 13 Syndrome
Cryptorchidism, Adrenal hypoplasia, Microphthalmia, Micropenis, Bicornuate uterus OMIM:264480
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:612530
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos OMIM:618874
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Decreased pineal volume OMIM:301108
Vacterl With Hydrocephalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Microphthalmia ORPHA:3191
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Microphthalmia, Micropenis, Hypoplasia of the uterus, H... OMIM:309801
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop... ORPHA:99776
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Microphthalmia OMIM:610651
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Martsolf Syndrome 1
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Microphthalmia OMIM:212720
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism, Microphthalmia ORPHA:284160
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphallus, Microphthalmia OMIM:603467
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Cryptorchidism, Ambiguous genitalia, Adrenal hypoplasia, Microphthalmia, Hypoplasia ... ORPHA:2166
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Microphthalmia, Hypospadias OMIM:619148
Microphthalmia, Lenz Type
Hypospadias, Cryptorchidism, Microphthalmia ORPHA:568
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Microphthalmia OMIM:619879
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Hypospadias, Microphthalmia OMIM:616449
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility, Microphthalmia OMIM:227650
Monosomy 18P
Hypothyroidism, Microphthalmia ORPHA:1598
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Chromosome 8Q21.11 Deletion Syndrome
Micropenis, Cryptorchidism, Microphthalmia OMIM:614230
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia OMIM:600901
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Fryns Syndrome
Bicornuate uterus, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:2059
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Meckel Syndrome, Type 2
Bile duct proliferation, Microphthalmia OMIM:603194
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Hypothyroidism, Optic nerve hypoplasia, Mi... OMIM:609053
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Macular hypoplasia, Labial hypoplasia, Microphthalmia, Hypospad... OMIM:147791
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia,... ORPHA:2237
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Von Hippel-Lindau Syndrome
Pheochromocytoma, Paraganglioma, Epididymal cyst, Pancreatic cysts, Neoplasm of the pancreas, Pap... OMIM:193300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Frontonasal Dysplasia 2
Microphthalmia, Bilateral cryptorchidism OMIM:613451
Temtamy Syndrome
Microphthalmia OMIM:218340
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Meckel Syndrome, Type 4
Bile duct proliferation, Microphthalmia OMIM:611134
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Meckel Syndrome
Cryptorchidism, Anophthalmia, True hermaphroditism, Aplasia/Hypoplasia of the iris, Male pseudohe... ORPHA:564
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Trichothiodystrophy 1, Photosensitive
Hypogonadism, Microphthalmia OMIM:601675
Rodrigues Blindness
Microphthalmia OMIM:268320
Fanconi Anemia, Complementation Group C
Cryptorchidism, Hypergonadotropic hypogonadism, Microphthalmia OMIM:227645
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Cohen Syndrome
Delayed puberty, Cryptorchidism, Microphthalmia ORPHA:193
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... OMIM:146510
Tetraamelia Syndrome 1
Absent external genitalia, Adrenal gland agenesis, Microphthalmia, Vaginal atresia, Hypoplasia of... OMIM:273395
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Microphthalmia, Buphthalmos, Hypoplastic male external genitalia, Optic nerve hyp... OMIM:236670
Joubert Syndrome 2
Hypoplastic male external genitalia, Microphthalmia OMIM:608091
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
3Q29 Microdeletion Syndrome
Hypospadias, Microphthalmia ORPHA:65286
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Microphthalmia ORPHA:250989
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Microphthalmia OMIM:614083
Trichothiodystrophy 4, Nonphotosensitive
Decreased fertility, Microphthalmia OMIM:234050
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Anophthalmia, Male pseudohermaphroditism, Ambigu... ORPHA:2556
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Ambiguous genitali... OMIM:263650
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Fanconi Anemia
Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Absent testis, Aplasia/Hypo... ORPHA:84
Mosaic Trisomy 1
Micropenis, Penile hypospadias, Microphthalmia ORPHA:1692
Cousin Syndrome
Ambiguous genitalia, male, Ambiguous genitalia, female, Microphthalmia OMIM:260660
Treacher-Collins Syndrome
Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, Micro... ORPHA:861
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Cryptorchidism, Microphthalmia OMIM:616300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Trisomy 18
Microphthalmia, Cryptorchidism, Abnormal morphology of female internal genitalia ORPHA:3380
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Absent gallbladder, Microphthalmia, Micropenis OMIM:617925
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
2Q31.1 Microdeletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Microphthalmia ORPHA:251014
Fraser Syndrome 2
Hypoplasia of the thymus, Ambiguous genitalia, Microphthalmia OMIM:617666
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Hypospadias, Male urethral meatus stenosis, Microphthalmia ORPHA:464738
Fanconi Anemia, Complementation Group D2
Annular pancreas, Cryptorchidism, Microphthalmia, Micropenis, Hypergonadotropic hypogonadism OMIM:227646
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplastic nipples, Microphthalmia OMIM:156610
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Bilateral microphthalmos ORPHA:2839
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Refsum Disease
Microphthalmia ORPHA:773
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Phace Association
Microphthalmia, Congenital hypothyroidism, Optic nerve hypoplasia, Lingual thyroid OMIM:606519
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Dubowitz Syndrome
Hypoplasia of the iris, Hypospadias, Cryptorchidism, Microphthalmia OMIM:223370
Rothmund-Thomson Syndrome, Type 2
Hypogonadism, Annular pancreas, Cryptorchidism, Microphthalmia OMIM:268400
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Chromosome 13Q14 Deletion Syndrome
Micropenis, Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:613884
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Frontorhiny
Hypopituitarism, Diabetes insipidus, Microphthalmia ORPHA:391474
Fryns Syndrome
Hypospadias, Bifid scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Bicornuate uterus, Ect... OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Holoprosencephaly
Panhypopituitarism, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Diabetes i... ORPHA:2162
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Anophtha... ORPHA:2052
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Joubert Syndrome 14
Microphthalmia OMIM:614424
Hallermann-Streiff Syndrome
Cryptorchidism, Microphthalmia OMIM:234100
Hallermann-Streiff Syndrome
Hypothyroidism, Cryptorchidism, Microphthalmia ORPHA:2108
Incontinentia Pigmenti
Supernumerary nipple, Breast aplasia, Breast hypoplasia, Hypoplasia of the fovea, Hypoplastic nip... OMIM:308300
Mosaic Variegated Aneuploidy Syndrome
Vaginal neoplasm, Ambiguous genitalia, Hypothyroidism, Microphthalmia ORPHA:1052
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Microphthalmia OMIM:300952
Roberts Syndrome
Clitoral hypertrophy, Long penis, Cryptorchidism, Microphthalmia ORPHA:3103
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Congenital hypoparathyroidism, Abnormal circulating follicle-stimulati... ORPHA:93325
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Cryptorchidism, Microphthalmia, Micropenis, Hypospadias, Clitoral hypoplasia OMIM:609945
Monosomy 9P
Ambiguous genitalia, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:261112
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Ovarian carcinoma, Microphthalmia OMIM:109400
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Microgastria-Limb Reduction Defect Syndrome
Rectovaginal fistula, Anophthalmia, Perineal fistula, Microphthalmia ORPHA:2538
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Microphthalmia OMIM:616734
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia, Polycystic ovaries ORPHA:137675
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Meckel Syndrome, Type 1
Abnormality of the uterus, Ambiguous genitalia, female, External genital hypoplasia, Cryptorchidi... OMIM:249000
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Mend Syndrome
Cryptorchidism, Microphthalmia ORPHA:401973
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Monosomy 9Q22.3
Ovarian fibroma, Microphthalmia ORPHA:77301
Charge Syndrome
Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Hy... ORPHA:138
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple ORPHA:1521
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Annular pancreas, Microphthalmia OMIM:616975
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple ORPHA:1236
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia ORPHA:457284
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hypothyroidism, Cryptorchidism, Microphthalmia OMIM:620005
Microphthalmia, Syndromic 2
Septate vagina, Adrenal insufficiency, Cryptorchidism, Anophthalmia, Phthisis bulbi, Hypothyroidi... OMIM:300166
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Neoplasm of the pancreas, Pancreatic islet cell adenoma... ORPHA:892
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... OMIM:620186
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Cardiac-Urogenital Syndrome
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... OMIM:618280
Cockayne Syndrome B
Micropenis, Hypoplasia of the iris, Cryptorchidism, Microphthalmia OMIM:133540
Microphthalmia With Limb Anomalies
True anophthalmia, Cryptorchidism, Microphthalmia ORPHA:1106
Aicardi Syndrome
Precocious puberty, Delayed puberty, Microphthalmia ORPHA:50
Townes-Brocks Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Cryptorchidism, Hypothyroid... ORPHA:857
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Adrenal gland dysgenesis, Microphthalmia, Bifid uterus, Hypospadias OMIM:236680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microphallus, Bilateral microphthalmos, Cryptorchidism, Hypospadias, Optic nerve hypoplasia ORPHA:468631
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morphology OMIM:154500
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Fraser Syndrome 1
Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Micropenis, Abnorma... OMIM:219000
Norrie Disease
Uterine rupture, Hypoplasia of the iris, Cryptorchidism, Delayed puberty, Aplasia/Hypoplasia of t... ORPHA:649
Trichothiodystrophy
Cryptorchidism, Bilateral microphthalmos, Gonadal dysgenesis ORPHA:33364
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia OMIM:601812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... ORPHA:273
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia OMIM:620185
22Q11.2 Deletion Syndrome
Cholelithiasis, Abnormality of the uterus, Cryptorchidism, Hypoplasia of the thymus, Hypothyroidi... ORPHA:567
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Incontinentia Pigmenti
Microphthalmia, Supernumerary nipple ORPHA:464
Holoprosencephaly 1
Micropenis, Diabetes insipidus, Adrenal hypoplasia, Microphthalmia OMIM:236100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Hypospadias, Microphthalmia ORPHA:508498
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... ORPHA:534
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Renpenning Syndrome 1
Decreased testicular size, Hypospadias, Phimosis, Microphthalmia OMIM:309500
Charge Syndrome
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... OMIM:214800
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia OMIM:127000
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia OMIM:612109
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Yunis-Varon Syndrome
Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Hypoplastic labia majora, Microph... ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Micr... OMIM:612289
Microphthalmia, Syndromic 6
Small scrotum, Anterior hypopituitarism, Cryptorchidism, Anophthalmia, Hypothyroidism, Adrenal hy... OMIM:607932
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Myhre Syndrome
Cryptorchidism, Microphthalmia OMIM:139210
Papillorenal Syndrome
Microphthalmia OMIM:120330
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Aicardi Syndrome
Precocious puberty, Microphthalmia OMIM:304050
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Steinfeld Syndrome
Absent gallbladder, Microphthalmia OMIM:184705
Phace Syndrome
Ectopic thyroid, Hypothyroidism, Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Proboscis Lateralis
External genital hypoplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... OMIM:609049
Cockayne Syndrome
Absence of pubertal development, Cryptorchidism, Delayed puberty, Microphthalmia, Diabetes mellitus ORPHA:191
Focal Dermal Hypoplasia
Supernumerary nipple, Aniridia, Cryptorchidism, Anophthalmia, Hypoplastic nipples, Labial hypopla... OMIM:305600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Microphthalmia OMIM:256520
Degcags Syndrome
Cryptorchidism, Chordee, Ambiguous genitalia, Microphthalmia, Hypospadias OMIM:619488
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Cat Eye Syndrome
Microphthalmia OMIM:115470
Isolated Arrhinia
Microphthalmia ORPHA:1134
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Holoprosencephaly 7
Panhypopituitarism, Bilateral microphthalmos, Microphthalmia OMIM:610828
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Microphthalmia OMIM:309000
Witteveen-Kolk Syndrome
Microphallus, Male urethral meatus stenosis, Decreased response to growth hormone stimulation tes... OMIM:613406
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Microphthalmia ORPHA:3186
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Floating-Harbor Syndrome
Varicocele, Glandular hypospadias, Cryptorchidism, Epididymal cyst, Hypospadias OMIM:136140
Wolf-Hirschhorn Syndrome
Precocious puberty, Rieger anomaly, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:194190
Mowat-Wilson Syndrome
Bifid scrotum, Supernumerary nipple, Cryptorchidism, Microphthalmia, Hypospadias OMIM:235730
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Microphthalmia, Bicornua... OMIM:268300
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Pancreatic cysts OMIM:274000
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency OMIM:130050
Traboulsi Syndrome
Microphthalmia OMIM:601552
Branchiooculofacial Syndrome
Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Anophthalmia, Microphthalmia, Hyposp... OMIM:113620
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, Aplasia of th... OMIM:276820
Okamoto Syndrome
Bifid uterus, Abnormally large globe ORPHA:2729
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Cryptorchidism, Epididymal cyst, Hypospadias ORPHA:2044
Townes-Brocks Syndrome 1
Bifid scrotum, Cryptorchidism, Hypothyroidism, Rectoperineal fistula, Bifid uterus, Rectovaginal ... OMIM:107480
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770