Gene Summary

Name:
phosphodiesterase 11A
Synonyms:
6330414F14Rik,  A630086N24Rik

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
microphthalmia Pde11aem1(IMPC)Mbp HOM Early adult 0.00
abnormal ovary morphology Pde11aem1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Pde11aem1(IMPC)Mbp HOM Early adult 0.00
hydrometra Pde11aem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Pde11aem1(IMPC)Mbp HOM Early adult 0.00
small testis Pde11aem1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Pde11aem1(IMPC)Mbp HOM Early adult 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.

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Human diseases caused by Pde11a 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 Pde11a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... ORPHA:189439

The table below shows human diseases predicted to be associated to Pde11a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Shyness OMIM:618221
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Microphthalmia, Syndromic 12
Cryptorchidism, Anophthalmia, Bicornuate uterus, Microphthalmia OMIM:615524
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Microphthalmia, Hypogonadism ORPHA:141333
Faciothoracogenital Syndrome
Prominent scrotal raphe, Glandular hypospadias, Shawl scrotum, Microphthalmia OMIM:227320
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Microphthalmia, External genital hypoplasia, Hypogonadism ORPHA:363741
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Familial Hyperprolactinemia
Amenorrhea, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Female hypogonadism ORPHA:397685
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Hypogonadotropic hypogonadism, Secondary amenorrhea, Polycy... ORPHA:1643
Premature Ovarian Failure 12
Primary amenorrhea, Microphthalmia OMIM:616947
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Microphthalmia, Hypogonadism OMIM:601794
Nanophthalmos 4
Microphthalmia OMIM:615972
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... ORPHA:753
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Alg13-Cdg
Abnormal lateral ventricle morphology, Poor eye contact ORPHA:324422
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer ORPHA:145
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty ORPHA:2229
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Abnormality of the endocrine system, Aplasia/Hypoplasia of the fallopian tube, Aplasi... OMIM:158330
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Abnormal circu... ORPHA:314478
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Polycystic ovaries, Abnormal... ORPHA:2795
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Ovarian Fibroma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Satoyoshi Syndrome
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Ab... ORPHA:3130
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormality of the uterus, Mi... ORPHA:2470
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Nanophthalmos
Microphthalmia ORPHA:35612
Autosomal Recessive Spastic Paraplegia Type 66
Spastic gait, Difficulty walking, Colpocephaly ORPHA:401815
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Estrogen Resistance
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Ataxia ORPHA:73256
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Hsd10 Disease
Ataxia, Abnormal social behavior, Gait disturbance, Choreoathetosis, Ventriculomegaly ORPHA:391417
Warburg Micro Syndrome 1
Cryptorchidism, External genital hypoplasia, Microphthalmia OMIM:600118
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia OMIM:193670
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Microphthalmia, Syndromic 5
Micropenis, Optic nerve hypoplasia, Anophthalmia, Ectopic posterior pituitary, Microphthalmia, Cr... OMIM:610125
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Abnormal lateral ventricle morphology, Gait ataxia ORPHA:488635
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... ORPHA:432
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... OMIM:615300
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Primary... ORPHA:247768
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Pierpont Syndrome
Cryptorchidism, Microphthalmia, Micropenis OMIM:602342
46,Xy Sex Reversal 8
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism OMIM:614279
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Microphthalmia, Decreased testicular size, Micropenis ORPHA:335
Hymen, Imperforate
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos OMIM:237100
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... ORPHA:65681
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:2547
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Decreased testicular size, Microphthalmia ORPHA:85284
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... OMIM:202010
Hydrolethalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Joubert Syndrome 37
Cryptorchidism, Microphthalmia, Decreased testicular size, Micropenis OMIM:619185
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Anophthalmia, Microphthalmia, Cryptorchidism ORPHA:77298
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Poor eye contact, Abnormal social behavior ORPHA:444002
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... ORPHA:83628
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Small scrotum, Micropenis OMIM:610756
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Seckel Syndrome 2
Hypospadias, Microphthalmia OMIM:606744
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Microphthalmia, Small scrotum, Hypogonadism ORPHA:228390
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Anophthalmia, Abnormality of the hypothalamus-pituitary axis, Microphthalmia ORPHA:139471
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia OMIM:618652
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Warburg Micro Syndrome 2
Hypoplastic labia majora, Micropenis, Microphthalmia, Cryptorchidism, Small scrotum OMIM:614225
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Trisomy 13
Anophthalmia, Abnormal morphology of female internal genitalia, Microphthalmia, Displacement of t... ORPHA:3378
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Microphthalmia,... OMIM:110100
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Warburg Micro Syndrome 4
Micropenis, Decreased testicular size, Microphthalmia, Cryptorchidism, Small scrotum OMIM:615663
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Microphthalmia, Cryptorchidism, Abnormality of the scrotum, Small scrotum ORPHA:2505
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Microphthalmia OMIM:617883
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Warburg Micro Syndrome 3
Micropenis, Hypoplastic labia minora, Decreased testicular size, Microphthalmia, Small scrotum OMIM:614222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Male pseudohermaphroditism, Bilateral microphthalmos OMIM:600122
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Scissor gait ORPHA:363654
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Estrogen Resistance Syndrome
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, ... ORPHA:785
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia ORPHA:2788
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Moebius Syndrome
Hypogonadotropic hypogonadism, Microphthalmia, Decreased testicular size, Micropenis OMIM:157900
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Small scrotum, Microphthalmia ORPHA:2728
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Cryptorchidism, Small scrotum, Microphthalmia OMIM:616734
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Difficulty walking ORPHA:306669
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Ambiguous genitalia, female, Precocious puberty, Decreased ci... ORPHA:90795
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Microphthalmia OMIM:214150
Kapur-Toriello Syndrome
Hypoplasia of penis, Hypoplastic labia majora, Microphthalmia ORPHA:2328
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... ORPHA:90794
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Abnormal social behavior ORPHA:101039
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Cryptorchidism, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Uterus didelphys, Primary amenorrhea, Septate vagina, Aplasia of the uterus, ... OMIM:146255
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Micro Syndrome
Hypoplasia of penis, Clitoral hypoplasia, Hypoplastic labia minora, Delayed puberty, Microphthalm... ORPHA:2510
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Baraitser-Winter Syndrome 1
Cryptorchidism, Microphthalmia, Micropenis OMIM:243310
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, External genital hypoplasia, Anophthalmia, Microphthalmia, Cryptorchidism, H... ORPHA:2250
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Kapur-Toriello Syndrome
Cryptorchidism, Microphthalmia, Hypoplastic labia majora, Micropenis OMIM:244300
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Dopa-Responsive Dystonia
Inability to walk, Abnormal social behavior, Gait disturbance, Difficulty walking, Ventriculomegaly ORPHA:255
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Microphthalmia OMIM:619135
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism, Microphthalmia ORPHA:494344
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... ORPHA:137902
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Attention deficit hyperactivity disorder, Agenesis of corpus callosum ORPHA:300573
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Micropenis OMIM:602361
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Microphthalmia OMIM:616395
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... OMIM:241080
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Kennerknecht syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
Marden-Walker Syndrome
Hypospadias, Cryptorchidism, Microphthalmia, Micropenis OMIM:248700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Pseudotrisomy 13 Syndrome
Bicornuate uterus, Micropenis, Adrenal hypoplasia, Microphthalmia, Cryptorchidism OMIM:264480
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hypoplasia of the iris, Microphthalmia OMIM:613001
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... OMIM:119500
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone stimulation test... ORPHA:3464
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity, Abnormal social behavior ORPHA:530983
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Microphthalmia ORPHA:404440
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Microphthalmia, Syndromic 3
Optic nerve aplasia, Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Optic nerve hypoplas... OMIM:206900
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the uterus, Diabetes mellitus, V... ORPHA:2237
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Microphthalmia ORPHA:290
Walker-Warburg Syndrome
Cryptorchidism, Anophthalmia, Hypoplasia of penis, Microphthalmia ORPHA:899
Bosma Arhinia Microphthalmia Syndrome
Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Primary amenorrhea, Microphthalmia, Crypt... OMIM:603457
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Mosaic Trisomy 9
Hypoplasia of penis, Abnormal fallopian tube morphology, Abnormality of the uterus, Microphthalmi... ORPHA:99776
Temtamy Syndrome
Microphthalmia ORPHA:1777
Vacterl With Hydrocephalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:3412
Lissencephaly 8
Microphthalmia OMIM:617255
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Unilateral microphthalmos, Macroorchidism OMIM:618874
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Supernumerary nipple, Microphthalmia OMIM:612530
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Microphthalmia OMIM:619879
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Poor eye contact, Tip-toe gait, No social interaction, Lateral ventricle dila... ORPHA:565624
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus OMIM:222300
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... OMIM:258040
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy, Micr... OMIM:309801
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Inability to walk, Partial agenesis of the corpus callosum, Lateral ventricle dilatation,... ORPHA:79243
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Ventriculomegaly, Ataxia OMIM:619833
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anophthalmia, Anterior hypopituitarism, Mi... OMIM:147250
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait imbalance, Dysplastic corpus callosum, Gait disturbance, Lateral ventricle dilatation, Diffi... ORPHA:488627
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Joubert Syndrome 22
Microphthalmia OMIM:615665
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Precocious puberty, Anophthalmia, Microphthalmia OMIM:615877
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, Microphthalmia ORPHA:284160
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Anophthalmia, Bilateral microphthalmos, Cryptorchidism OMIM:601186
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism OMIM:610651
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating... ORPHA:64739
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Tetraamelia Syndrome 1
Urethral atresia, Absent external genitalia, Hypoplasia of the fallopian tube, Microphthalmia, Va... OMIM:273395
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Episodic ataxia ORPHA:420179
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphallus, Microphthalmia OMIM:603467
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Microphthalmia, Micropenis OMIM:614230
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility, Microphthalmia OMIM:227650
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Penoscrotal transposition, Microphthalmia, Cryptorchidism OMIM:619148
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... OMIM:157640
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Martsolf Syndrome 1
Hypogonadotropic hypogonadism, Cryptorchidism, Microphthalmia, Micropenis OMIM:212720
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Cryptorchidism, Microphthalmia OMIM:600901
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Micropenis, Decreased testicular size, Hypogonadism, Vaginal atre... OMIM:209900
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... OMIM:609441
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Fryns Syndrome
Hypospadias, Cryptorchidism, Bicornuate uterus, Microphthalmia ORPHA:2059
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Microphthalmia ORPHA:3191
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Microphthalmia, Lenz Type
Hypospadias, Cryptorchidism, Microphthalmia ORPHA:568
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia OMIM:271520
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... ORPHA:284339
Weiss-Kruszka Syndrome
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly OMIM:618619
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the hypothalamus-pituitary axis, Ambiguous genit... ORPHA:2166
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Jacobsen Syndrome
Annular pancreas, Labial hypoplasia, Hypospadias, Macular hypoplasia, Clitoral hypoplasia, Microp... OMIM:147791
Monosomy 18P
Hypothyroidism, Microphthalmia ORPHA:1598
Cousin Syndrome
Ambiguous genitalia, female, Ambiguous genitalia, male, Microphthalmia OMIM:260660
Cach Syndrome
Lateral ventricle dilatation, Dysmetria, Truncal ataxia, Limb ataxia ORPHA:135
Autosomal Dominant Keratitis
Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... ORPHA:2334
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Fanconi Anemia, Complementation Group I
Hypothyroidism, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Mi... OMIM:609053
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Normal pressure hydrocephalus, Partial agenesis of the corpus callosum, Latera... ORPHA:300570
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Meckel Syndrome, Type 2
Bile duct proliferation, Microphthalmia OMIM:603194
Meckel Syndrome
Urethral atresia, Pancreatic fibrosis, Male pseudohermaphroditism, Anophthalmia, Ambiguous genita... ORPHA:564
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Pallister-Hall Syndrome
Precocious puberty, Distal urethral duplication, Decreased response to growth hormone stimulation... OMIM:146510
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Dysmetria, Dilated fourth ventricle, Athetosis, Lateral ventricle dilatation, Difficulty ... ORPHA:572798
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Cryptorchidism, Microphthalmia OMIM:616300
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Dilated fourth ventricle, Dandy-Walker malformation ORPHA:3078
Joubert Syndrome 14
Microphthalmia OMIM:614424
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Microphthalmia, Micropenis OMIM:614083
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Cryptorchidism, Microphthalmia OMIM:227645
Fraser Syndrome
Abnormal vagina morphology, Urethral atresia, Hypoplasia of penis, Bicornuate uterus, Hypospadias... ORPHA:2052
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Cryptorchidism, Micropenis, Optic nerve hy... OMIM:610829
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
Halperin-Birk Syndrome
Inability to walk, Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly OMIM:618651
Meckel Syndrome, Type 4
Bile duct proliferation, Microphthalmia OMIM:611134
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Phocomelia, Schinzel Type
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis ORPHA:2879
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Chromosome 17Q12 Deletion Syndrome
Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplasia of the vagina... OMIM:614527
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Hypogonadism OMIM:601675
Trisomy 18
Abnormal morphology of female internal genitalia, Cryptorchidism, Microphthalmia ORPHA:3380
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Anterior Segment Dysgenesis 2
Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia OMIM:610256
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Primary amenorrhea, Hypoplastic nipples, Breast aplas... ORPHA:69085
Cohen Syndrome
Cryptorchidism, Delayed puberty, Microphthalmia ORPHA:193
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Uterus didelphys, Septate vagina, Absent gallbladder, Microphthalmia OMIM:617925
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:64280
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Hypoplastic male external genitalia, Microphthalmia, Cryptor... OMIM:236670
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Abnormal penis morphology, Male pseudohermaphroditism, Hypospadias, Anophthalmia,... ORPHA:2556
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Fanconi Anemia
Absent testis, Bicornuate uterus, Abnormal preputium morphology, Decreased fertility in males, Mi... ORPHA:84
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bicornuate uterus, Micropenis, Ambiguous genitalia, Hypoplastic male e... OMIM:263650
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia ORPHA:457284
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Exstrophy-Epispadias Complex
Female sexual dysfunction, Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Pen... ORPHA:322
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Microphthalmia ORPHA:250989
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Treacher-Collins Syndrome
Hypoplasia of penis, Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypopla... ORPHA:861
3Q29 Microdeletion Syndrome
Hypospadias, Microphthalmia ORPHA:65286
Slc35A2-Cdg
Lateral ventricle dilatation, Inability to walk, Dandy-Walker malformation ORPHA:356961
Coffin-Siris Syndrome 9
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Fanconi Anemia, Complementation Group D2
Annular pancreas, Micropenis, Hypergonadotropic hypogonadism, Microphthalmia, Cryptorchidism OMIM:227646
Mosaic Trisomy 1
Penile hypospadias, Microphthalmia, Micropenis ORPHA:1692
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Decreased fertility OMIM:234050
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Rodrigues Blindness
Microphthalmia OMIM:268320
Joubert Syndrome 2
Hypoplastic male external genitalia, Microphthalmia OMIM:608091
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Pancreatic adenocarcinoma, Endometrial carcinoma ORPHA:454840
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Distal Monosomy 10Q
Lateral ventricle dilatation, Ataxia, Attention deficit hyperactivity disorder, Unsteady gait ORPHA:96148
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Maturi... OMIM:137920
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Microphthalmia ORPHA:251014
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Tip-toe gait, Progressive gait ataxia, Gait ataxia ORPHA:309256
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Hypospadias, Male urethral meatus stenosis, Microphthalmia ORPHA:464738
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cryptorchidism, Microphthalmia, Hypogonadism OMIM:268400
Dubowitz Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of the iris, Microphthalmia OMIM:223370
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Dysplastic corpus callosum, Attention defi... ORPHA:544488
Fg Syndrome Type 1
Broad-based gait, Hydrocephalus, Abnormal social behavior, Attention deficit hyperactivity disord... ORPHA:93932
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Bilateral microphthalmos ORPHA:2839
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Autosomal Dominant Non-Syndromic Intellectual Disability
Lateral ventricle dilatation ORPHA:178469
Phace Association
Optic nerve hypoplasia, Congenital hypothyroidism, Lingual thyroid, Microphthalmia OMIM:606519
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Basal Cell Nevus Syndrome
Ovarian fibroma, Ovarian carcinoma, Microphthalmia OMIM:109400
Refsum Disease
Microphthalmia ORPHA:773
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Abnormal social behavior ORPHA:1020
Histiocytoid Cardiomyopathy
Polycystic ovaries, Congenital aphakia, Microphthalmia ORPHA:137675
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Microphthalmia, Supernumerary nipple, Micropenis OMIM:613884
Charge Syndrome
Labial hypoplasia, Micropenis, Bifid scrotum, Hypogonadotropic hypogonadism, Abnormality of the a... ORPHA:138
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation, Ataxia, Unsteady gait ORPHA:457279
Holoprosencephaly
Microphthalmia, Hypoplasia of penis, Panhypopituitarism, Anophthalmia, Anterior hypopituitarism, ... ORPHA:2162
Roberts Syndrome
Cryptorchidism, Microphthalmia, Clitoral hypertrophy, Long penis ORPHA:3103
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Ventriculomegaly ORPHA:1855
Fryns Syndrome
Bicornuate uterus, Bifid scrotum, Hypospadias, Ectopic pancreatic tissue, Shawl scrotum, Micropht... OMIM:229850
Townes-Brocks Syndrome
Abnormal vagina morphology, Microphthalmia, Hypoplasia of penis, Bifid scrotum, Hypospadias, Rect... ORPHA:857
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Frontorhiny
Hypopituitarism, Microphthalmia, Diabetes insipidus ORPHA:391474
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Lateral ventricle dilatation, Ventriculomegaly, Colpocephaly, Dandy-Walk... ORPHA:397715
Hallermann-Streiff Syndrome
Hypothyroidism, Cryptorchidism, Microphthalmia ORPHA:2108
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Mosaic Variegated Aneuploidy Syndrome
Hypothyroidism, Ambiguous genitalia, Vaginal neoplasm, Microphthalmia ORPHA:1052
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia OMIM:236680
Meckel Syndrome, Type 1
Ambiguous genitalia, female, Ambiguous genitalia, male, External genital hypoplasia, Adrenal hypo... OMIM:249000
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
Autosomal Recessive Spastic Paraplegia Type 11
Gait disturbance, Lateral ventricle dilatation, Ataxia, Inability to walk ORPHA:2822
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Monosomy 9Q22.3
Ovarian fibroma, Microphthalmia ORPHA:77301
Pallister-Hall Syndrome
Central adrenal insufficiency, Ambiguous genitalia, Thyroid hypoplasia, Microphthalmia, Small scr... ORPHA:672
Cardiac-Urogenital Syndrome
Bifid scrotum, Micropenis, Unilateral cryptorchidism, Ambiguous genitalia, Penoscrotal hypospadia... OMIM:618280
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Hallermann-Streiff Syndrome
Cryptorchidism, Microphthalmia OMIM:234100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Micropenis, Bifid scrotum, Hypospadias, Clitoral hypoplasia, Microphthalmia, Cryptorchidism OMIM:609945
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
Monosomy 9P
Ambiguous genitalia, Cryptorchidism, Hypospadias, Microphthalmia ORPHA:261112
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Mend Syndrome
Cryptorchidism, Microphthalmia ORPHA:401973
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly OMIM:617260
Microgastria-Limb Reduction Defect Syndrome
Rectovaginal fistula, Anophthalmia, Perineal fistula, Microphthalmia ORPHA:2538
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Clitoral hypoplasia, Go... OMIM:618419
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Hypospadias, Cryptorchidism, Microphthalmia OMIM:616975
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size, Abnormal circ... ORPHA:93325
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hypothyroidism, Cryptorchidism, Microphthalmia OMIM:620005
Microphthalmia, Syndromic 2
Adrenal insufficiency, Phthisis bulbi, Hypospadias, Septate vagina, Anophthalmia, Hypothyroidism,... OMIM:300166
Cog5-Cdg
Lateral ventricle dilatation, Truncal ataxia ORPHA:263487
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:96263
Norrie Disease
Buphthalmos, Hypoplasia of the iris, Microphthalmia OMIM:310600
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Adams-Oliver Syndrome 1
Supernumerary nipple, Imperforate hymen, Microphthalmia OMIM:100300
Norrie Disease
Microphthalmia, Uterine rupture, Aplasia/Hypoplasia of the lens, Erectile dysfunction, Hypoplasia... ORPHA:649
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Microphthalmia OMIM:256520
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation, Impaired social interactions, Attention deficit hyperactivity disor... ORPHA:177907
Incontinentia Pigmenti
Supernumerary nipple, Hypoplasia of the fovea, Hypoplastic nipples, Breast aplasia, Breast hypopl... OMIM:308300
Cockayne Syndrome B
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