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Gene: Pde11a MGI:3036251

Gene Summary

Name:

phosphodiesterase 11A

Synonyms:

6330414F14Rik, A630086N24Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
small testis	Pde11a^em1(IMPC)Mbp	HOM	Early adult
abnormal testis morphology	Pde11a^em1(IMPC)Mbp	HOM	Early adult
abnormal eye morphology	Pde11a^em1(IMPC)Mbp	HOM	Early adult
hydrometra	Pde11a^em1(IMPC)Mbp	HOM	Early adult
abnormal ovary morphology	Pde11a^em1(IMPC)Mbp	HOM	Early adult
microphthalmia	Pde11a^em1(IMPC)Mbp	HOM	Early adult
abnormal uterus morphology	Pde11a^em1(IMPC)Mbp	HOM	Early adult

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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

35 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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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.

Human diseases associated with Pde11a (2 diseases)
Human diseases predicted to be associated with Pde11a (670 diseases)

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		Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Carney Complex		Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O...	ORPHA:1359

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

Disease	Matching phenotypes	Source
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors	OMIM:618830
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608631
Spermatogenic Failure 57	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i...	OMIM:619528
Spermatogenic Failure 50	Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619145
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Intellectual Developmental Disorder, Autosomal Recessive 66	Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:618221
Spermatogenic Failure 25	Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social...	OMIM:608636
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Isochromosomy Yq	Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ...	ORPHA:98798
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614840
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism	OMIM:615524
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Hepatic Adenomas, Familial	Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia	ORPHA:141333
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism	ORPHA:363741
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hypogonadism, Cryptorchidism	OMIM:601794
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Apl...	ORPHA:1643
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A...	OMIM:194072
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch...	ORPHA:753
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm	ORPHA:145
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ...	ORPHA:101039
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal external genitalia	ORPHA:3469
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:164180
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Hsd10 Disease	Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior, Ventriculomegaly	ORPHA:391417
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Nanophthalmos	Microphthalmia	ORPHA:35612
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr...	ORPHA:2470
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cryptorchidism	OMIM:613730
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus	OMIM:268650
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N...	ORPHA:432
Nanophthalmos 4	Microphthalmia	OMIM:615972
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Spastic gait, Difficulty walking	ORPHA:401815
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia...	OMIM:610125
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Congenital Fibrinogen Deficiency	Microphthalmia, Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size	ORPHA:335
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia	ORPHA:488635
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Central Neurocytoma	Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus	ORPHA:73256
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Hydrolethalus	Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:2189
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Müllerian Aplasia And Hyperandrogenism	Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina...	ORPHA:247768
Pierpont Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:602342
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia	OMIM:617914
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Meckel Syndrome, Type 8	Ambiguous genitalia, Microphthalmia, Anophthalmia	OMIM:613885
Bresek Syndrome	Decreased testicular size, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism	ORPHA:85284
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors	ORPHA:444002
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2547
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Aggressive behavior, Lateral ventricle dilatation, Inappropriate behavior, Disinhibition, Gait di...	OMIM:221770
Joubert Syndrome 37	Microphthalmia, Micropenis, Decreased testicular size, Cryptorchidism	OMIM:619185
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:77298
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia	ORPHA:93267
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Microphthalmia	OMIM:618652
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Ataxia, Impulsivity, Inability to walk, Lateral ventricle dilatation, Attention...	OMIM:617854
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Trisomy 13	Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypoplasia of the iris...	ORPHA:3378
Microphthalmia With Brain And Digit Anomalies	Abnormality of the hypothalamus-pituitary axis, Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:139471
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism	ORPHA:228390
Seckel Syndrome 2	Microphthalmia, Hypospadias	OMIM:606744
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Abnormal repetitive ma...	OMIM:613443
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor...	ORPHA:90301
Warburg Micro Syndrome 4	Small scrotum, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size	OMIM:615663
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micropenis, Small scrotum	OMIM:610756
Fanconi Anemia, Complementation Group S	Microphthalmia, Ovarian carcinoma, Ovarian neoplasm	OMIM:617883
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Difficulty walking	ORPHA:306669
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma...	ORPHA:530983
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame...	OMIM:235200
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia	ORPHA:2505
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:614225
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation, Ataxia	OMIM:615889
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum, Abnormal temper tantrums, Attention de...	ORPHA:300573
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Moebius Syndrome	Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size	OMIM:157900
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Isosexual precocious puberty	ORPHA:2788
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism	ORPHA:3301
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Warburg Micro Syndrome 3	Small scrotum, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased testicular size	OMIM:614222
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
2,4-Dienoyl-Coa Reductase Deficiency	Ataxia, Hydrocephalus, Choreoathetosis, Colpocephaly, Ventriculomegaly	OMIM:616034
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:214150
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle, Scissor gait	ORPHA:363654
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Delayed puber...	ORPHA:2510
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Small scrotum, Cryptorchidism	ORPHA:2728
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism	OMIM:614851
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation, Ataxia, Limb ataxia, Dysphagia	OMIM:607596
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agitation, Disinhib...	OMIM:607485
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Kapur-Toriello Syndrome	Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis	ORPHA:2328
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Tongue thrusting	ORPHA:77299
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub...	ORPHA:90795
Baraitser-Winter Syndrome 1	Microphthalmia, Micropenis, Cryptorchidism	OMIM:243310
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Kapur-Toriello Syndrome	Hypoplastic labia majora, Microphthalmia, Micropenis, Cryptorchidism	OMIM:244300
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hypospadias, Cryptorchidism	ORPHA:494344
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Amed Syndrome, Digenic	Hypoplasia of the uterus, Adrenal hypoplasia	OMIM:619151
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic...	ORPHA:2250
Satoyoshi Syndrome	Hypoplasia of the uterus, Amenorrhea	OMIM:600705
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism	OMIM:619135
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Cryptorchidism	OMIM:618494
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Microphthalmia	OMIM:616395
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Inability to walk, Lateral ventricle dilatation, Bruxism	OMIM:615716
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Thyroid adenoma	OMIM:617100
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Vacterl With Hydrocephalus	Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:3412
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Pseudotrisomy 13 Syndrome	Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Microphthalmia, Micropenis	OMIM:264480
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior, Agitation, Ataxia, Disinhibition	ORPHA:1020
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Micropenis	OMIM:602361
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Marden-Walker Syndrome	Microphthalmia, Micropenis, Hypospadias, Cryptorchidism	OMIM:248700
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Cryptorchidism	ORPHA:404440
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary...	ORPHA:208447
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Lissencephaly 8	Microphthalmia	OMIM:617255
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Inability to walk, Partial agenesis of the corpus callosum, Lateral ventricle dilatation,...	ORPHA:79243
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation, Hyperactivity, Abnormal repetitive manner...	OMIM:617751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder	ORPHA:64280
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre...	ORPHA:3464
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Mosaic Trisomy 9	Hypoplasia of penis, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morpholog...	ORPHA:99776
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle dilatation, Gait disturbance, ...	ORPHA:488627
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Type I diabetes mellitus	ORPHA:290
Walker-Warburg Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia, Cryptorchidism	ORPHA:899
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Cryptorchidism	OMIM:613001
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ataxia, Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly, Ventriculomegaly	OMIM:619833
Wolfram Syndrome 1	Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus	OMIM:222300
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ...	ORPHA:2237
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterio...	OMIM:206900
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia...	OMIM:603457
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Unilateral microphthalmos	OMIM:618874
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Cryptorchidism	OMIM:612530
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal...	OMIM:618914
Meckel Syndrome 14	Ambiguous genitalia, Microphthalmia, Aplasia of the uterus	OMIM:619879
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Cach Syndrome	Truncal ataxia, Limb ataxia, Dysmetria, Lateral ventricle dilatation, Dysphagia	ORPHA:135
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h...	OMIM:309801
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyperactivity, Self-injurious behavior, Lateral ventricle dilatation, Aggressive behavior	OMIM:620075
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Cryptorchidism, Bilateral microphthalmos	ORPHA:369891
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Infertility, Erectile dysfu...	ORPHA:465508
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:618736
Pontocerebellar Hypoplasia, Type 13	Inability to walk, Lateral ventricle dilatation, Dandy-Walker malformation, Gait ataxia	OMIM:618606
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, Cryptorchidism	ORPHA:284160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia	OMIM:608629
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Clitoral hypertrophy	OMIM:616449
Fryns Syndrome	Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism	ORPHA:2059
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Holoprosencephaly 5	Hydrocephalus, Lateral ventricle dilatation	OMIM:609637
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina...	OMIM:209900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Martsolf Syndrome 1	Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism	OMIM:212720
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Microphthalmia, Syndromic 9	Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601186
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Fanconi Anemia, Complementation Group F	Microphthalmia, Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism	OMIM:603467
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Microphthalmia	OMIM:619148
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Type II diabetes mellitus	ORPHA:3191
Fanconi Anemia, Complementation Group A	Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:227650
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:614230
Microphthalmia, Lenz Type	Microphthalmia, Hypospadias, Cryptorchidism	ORPHA:568
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Steppage gait	OMIM:256850
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microp...	ORPHA:2166
Fanconi Anemia, Complementation Group E	Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:600901
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Clitoral hypoplasia, Macular hypoplasia, Labial hypoplasia, Micropht...	OMIM:147791
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Monosomy 18P	Microphthalmia, Hypothyroidism	ORPHA:1598
Craniosynostosis 6	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:616602
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Choking episodes	OMIM:620352
Malan Overgrowth Syndrome	Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:420179
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Tip-toe gait, Dilated thir...	OMIM:617296
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Ataxia, Aggressive behavior, Dysmetria, Athetosis, Lateral ventricle di...	ORPHA:572798
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Fanconi Anemia, Complementation Group I	Microphthalmia, Hypothyroidism, Optic nerve hypoplasia, Decreased response to growth hormone stim...	OMIM:609053
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Adrenal gland agenesis, Microphthalm...	OMIM:273395
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly	OMIM:620156
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia	OMIM:613451
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Inability to walk, Partial agenesis of the corpus callosum, Delayed early-childho...	ORPHA:300570
Fanconi Anemia, Complementation Group L	Microphthalmia, Micropenis, Aplasia of the uterus	OMIM:614083
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Fg Syndrome Type 1	Broad-based gait, Hydrocephalus, Compulsive behaviors, Attention deficit hyperactivity disorder, ...	ORPHA:93932
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum, Aggressive be...	OMIM:619244
Holoprosencephaly 9	Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth...	OMIM:610829
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation	OMIM:611134
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Trisomy 18	Microphthalmia, Abnormal morphology of female internal genitalia, Cryptorchidism	ORPHA:3380
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Meckel Syndrome	Anophthalmia, True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Male p...	ORPHA:564
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Temtamy Syndrome	Microphthalmia	OMIM:218340
Fanconi Anemia, Complementation Group C	Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:227645
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:615219
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Cryptorchidism, Buphthalmos, Hypoplastic male external genitalia, Microph...	OMIM:236670
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Cohen Syndrome	Microphthalmia, Delayed puberty, Cryptorchidism	ORPHA:193
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Halperin-Birk Syndrome	Inability to walk, Colpocephaly, Pseudobulbar paralysis, Agenesis of corpus callosum, Ventriculom...	OMIM:618651
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,...	OMIM:263650
Fanconi Anemia	Hypospadias, Abnormal preputium morphology, Cryptorchidism, Aplasia/Hypoplasia of the iris, Azoos...	ORPHA:84
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,...	ORPHA:2052
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism	ORPHA:250989
Limb-Mammary Syndrome	Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl...	ORPHA:69085
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis	OMIM:617925
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus	ORPHA:1521
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus	ORPHA:457284
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Microphthalmia, Cryptorchidism	OMIM:616300
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia...	ORPHA:861
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn...	ORPHA:2556
Metachromatic Leukodystrophy, Late Infantile Form	Abnormal social behavior, Progressive gait ataxia, Tip-toe gait, Gait ataxia	ORPHA:309256
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Decreased fertility	OMIM:234050
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Prader-Willi Syndrome Due To Translocation	Head-banging, Lateral ventricle dilatation, Abnormal temper tantrums, Compulsive behaviors, Atten...	ORPHA:177907
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O...	ORPHA:1359
3Q29 Microdeletion Syndrome	Microphthalmia, Hypospadias	ORPHA:65286
Cousin Syndrome	Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male	OMIM:260660
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Rodrigues Blindness	Microphthalmia	OMIM:268320
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Attention def...	OMIM:619575
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Glutaric Acidemia I	Choreoathetosis, Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Lateral ventricle dilatation, Abnormal temper tantrum...	ORPHA:457279
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Aggressive behavior, Dysplastic corpus callosum, Self-injurious behavior, Lateral ventricle dilat...	ORPHA:544488
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma...	ORPHA:322
Joubert Syndrome 2	Microphthalmia, Hypoplastic male external genitalia	OMIM:608091
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty	OMIM:615866
2Q31.1 Microdeletion Syndrome	Microphthalmia, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism	ORPHA:251014
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Microphthalmia, Micropenis	OMIM:227646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Mosaic Trisomy 1	Microphthalmia, Micropenis, Penile hypospadias	ORPHA:1692
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl s...	OMIM:229850
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Basal Cell Nevus Syndrome 1	Microphthalmia, Ovarian fibroma, Ovarian carcinoma	OMIM:109400
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Male urethral meatus stenosis, Cholelithiasis, Hypospadias	ORPHA:464738
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Annular pancreas, Hypogonadism, Cryptorchidism	OMIM:268400
Fraser Syndrome 2	Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos	ORPHA:2839
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia, Polycystic ovaries	ORPHA:137675
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Hypospadias, Cryptorchidism	OMIM:223370
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Roberts Syndrome	Microphthalmia, Long penis, Clitoral hypertrophy, Cryptorchidism	ORPHA:3103
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita...	OMIM:618280
Refsum Disease	Microphthalmia	ORPHA:773
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Phace Association	Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidism	OMIM:606519
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Agitation, Dysphagia	ORPHA:2148
48,Xxxy Syndrome	Abnormal social behavior, Attention deficit hyperactivity disorder	ORPHA:96263
Charge Syndrome	Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Abnormali...	ORPHA:138
Meckel Syndrome, Type 1	External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Amb...	OMIM:249000
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Diabetes insipidus, Diabetes mellitus, Cryptorchidism, Microph...	ORPHA:2162
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Micropenis, Supernumerary nipple, Cryptorchidism	OMIM:613884
Frontorhiny	Microphthalmia, Hypopituitarism, Diabetes insipidus	ORPHA:391474
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B...	OMIM:137920
Monosomy 9Q22.3	Microphthalmia, Ovarian fibroma	ORPHA:77301
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism	OMIM:234100
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
16Q24.3 Microdeletion Syndrome	Colpocephaly, Ventriculomegaly, Dysphagia	ORPHA:261250
Mosaic Variegated Aneuploidy Syndrome	Ambiguous genitalia, Microphthalmia, Hypothyroidism, Vaginal neoplasm	ORPHA:1052
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Monosomy 9P	Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism	ORPHA:261112
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Hallermann-Streiff Syndrome	Microphthalmia, Hypothyroidism, Cryptorchidism	ORPHA:2108
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the...	ORPHA:672
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Microphthalmia, Micropenis	OMIM:609945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Thyroid C cell hyperplasia	OMIM:300952
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Autosomal Dominant Kenny-Caffey Syndrome	Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size, Abnormal circ...	ORPHA:93325
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula	ORPHA:2538
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Noncommunicating...	ORPHA:805
X-Linked Intellectual Disability, Snyder Type	Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy	ORPHA:3063
Hydrolethalus Syndrome 1	Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal vagina morphology	OMIM:236680
Mend Syndrome	Microphthalmia, Cryptorchidism	ORPHA:401973
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:620113
Norrie Disease	Aplasia/Hypoplasia of the lens, Diabetes mellitus, Cryptorchidism, Hypoplasia of the iris, Erecti...	ORPHA:649
Microphthalmia, Syndromic 2	Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Adrenal insufficiency,...	OMIM:300166
Myoectodermal Gonadal Dysgenesis Syndrome	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplastic labia major...	OMIM:618419
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Small scrotum, Hypospadias, Cryptorchidism	OMIM:616734
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Annular pancreas, Hypospadias, Cryptorchidism	OMIM:616975
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Inability to walk, Lateral ventricle dilatation, Gait disturbance, Dysphagia	ORPHA:2822
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi...	ORPHA:857
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Dandy-Walker malformation, Colpocephaly, Lateral ventricle dilatation, Dilated third ventricle, V...	ORPHA:397715
Incontinentia Pigmenti	Hypoplasia of the fovea, Supernumerary nipple, Breast aplasia, Hypoplastic nipples, Microphthalmi...	OMIM:308300
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Ventriculomegaly	ORPHA:1855
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Hypothyroidism, Cryptorchidism	OMIM:620005
Fraser Syndrome 1	Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Bicornuate uterus, Abnormal ...	OMIM:219000
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Cryptorchidism	ORPHA:1106
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Metachromatic Leukodystrophy, Juvenile Form	Progressive gait ataxia, Abnormal social behavior	ORPHA:309263
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Trichothiodystrophy	Cryptorchidism, Gonadal dysgenesis, Bilateral microphthalmos	ORPHA:33364
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Gabriele-De Vries Syndrome	Waddling gait, Lateral ventricle dilatation, Tip-toe gait, Attention deficit hyperactivity disorder	OMIM:617557
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia, Micropenis, Cryptorchidism	OMIM:133540
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cryptorchidism, Hypothyroidism, Hypoplasia of t...	ORPHA:567
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Abnormal...	ORPHA:314647
Aicardi Syndrome	Precocious puberty, Microphthalmia, Delayed puberty	ORPHA:50
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi...	ORPHA:2388
Neu-Laxova Syndrome 1	Cryptorchidism, Microphthalmia, Bifid uterus	OMIM:256520
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Microphallus	ORPHA:468631
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617260
Treacher Collins Syndrome 1	Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology	OMIM:154500
Yunis-Varon Syndrome	Hypospadias, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia majora, Microphthalmia, ...	ORPHA:3472
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Cryptorchidism, Buphthalmos, Azoospermia, Abnormal circulating calcium-phosp...	ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysphagia, Lateral ventricle dilatation, ...	OMIM:615873
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Metachromatic Leukodystrophy, Adult Form	Progressive gait ataxia, Abnormal social behavior, Difficulty walking	ORPHA:309271
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Charge Syndrome	Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor...	OMIM:214800
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration	OMIM:601812
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Micr...	OMIM:612289
Renpenning Syndrome 1	Microphthalmia, Hypospadias, Decreased testicular size, Phimosis	OMIM:309500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Hypospadias, Optic nerve hypoplasia	ORPHA:508498
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Incontinentia Pigmenti	Microphthalmia, Supernumerary nipple	ORPHA:464
Atelis Syndrome 2	Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Steinfeld Syndrome	Microphthalmia, Absent gallbladder	OMIM:184705
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse	OMIM:130050
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Myhre Syndrome	Microphthalmia, Cryptorchidism	OMIM:139210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Microphthalmia	OMIM:127000
Peroxisome Biogenesis Disorder 5A (Zellweger)	Athetosis, Colpocephaly, Agenesis of corpus callosum	OMIM:614866
Momo Syndrome	Abnormality of the thyroid gland, Bilateral microphthalmos	ORPHA:2563
Aicardi Syndrome	Precocious puberty, Microphthalmia	OMIM:304050
Focal Dermal Hypoplasia	Anophthalmia, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Hypoplastic nipples, Lab...	OMIM:305600
Wolf-Hirschhorn Syndrome	Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus	OMIM:194190
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia	ORPHA:2092
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Thrombocytopenia-Absent Radius Syndrome	Pancreatic cysts, Aplasia of the uterus	OMIM:274000
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Microphthalmia, Syndromic 6	Anophthalmia, Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microphthal...	OMIM:607932
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Inability to walk, Colpocephaly, Ataxia	OMIM:620083
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr...	ORPHA:99413
Turner Syndrome	Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr...	ORPHA:881
Mosaic Monosomy X	Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr...	ORPHA:99226
Khan-Khan-Katsanis Syndrome	Colpocephaly, Ventriculomegaly, Dysphagia	OMIM:618460
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Ectopic thyroid, Microphthalmia, Hypothyroidism	ORPHA:42775
Holoprosencephaly 1	Microphthalmia, Micropenis, Diabetes insipidus, Adrenal hypoplasia	OMIM:236100
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia	ORPHA:141099
Koolen-De Vries Syndrome Due To A Point Mutation	Hydrocephalus, Inappropriate laughter, Attention deficit hyperactivity disorder, Abnormal social ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hydrocephalus, Inappropriate laughter, Attention deficit hyperactivity disorder, Abnormal social ...	ORPHA:363958
Cockayne Syndrome	Diabetes mellitus, Cryptorchidism, Absence of pubertal development, Delayed puberty, Microphthalmia	ORPHA:191
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ...	OMIM:276820
Okamoto Syndrome	Bifid uterus, Abnormally large globe	ORPHA:2729
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Degcags Syndrome	Hypospadias, Cryptorchidism, Chordee, Ambiguous genitalia, Microphthalmia	OMIM:619488
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353277
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis...	OMIM:107480
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Attention deficit hyperact...	OMIM:618820
Niemann-Pick Disease Type C	Ataxia, Aggressive behavior, Progressive gait ataxia, Gait disturbance, Disinhibition, Compulsive...	ORPHA:646
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Coffin-Siris Syndrome 1	Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus	OMIM:135900
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Cryptorchidism	OMIM:309000
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicornuate uterus, Microphthalmia...	OMIM:268300
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Panhypopituitarism	OMIM:610828
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Abnormal social behavior	ORPHA:1675
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Absent gallbladder	ORPHA:3186
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Smith-Lemli-Opitz Syndrome	Hyperactivity, Aggressive behavior, Partial agenesis of the corpus callosum, Hydrocephalus, Colpo...	OMIM:270400
Witteveen-Kolk Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph...	OMIM:613406
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Microphthalmia	OMIM:235730
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
6Q Terminal Deletion Syndrome	Colpocephaly, Dysmetria, Gait ataxia	ORPHA:75857
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Supernumerary nipple, Cryptorchidism, Microphthalmia, Ectopic thymus t...	OMIM:113620
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord...	ORPHA:261537
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord...	ORPHA:2152
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Partial agenesis of the corpus callosum, Hydrocephalus, Colpocephaly, Lateral ventricle dilatatio...	OMIM:210710
Holoprosencephaly 13, X-Linked	Colpocephaly, Agenesis of corpus callosum	OMIM:301043
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse	ORPHA:286
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord...	ORPHA:261552
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Williams Syndrome	Ataxia, Dysmetria, Gait disturbance, Gait imbalance, Attention deficit hyperactivity disorder, Co...	ORPHA:904
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma	OMIM:619539
Holoprosencephaly 2	Microphthalmia, Adrenal hypoplasia, Diabetes insipidus, Anterior pituitary agenesis	OMIM:157170
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Hypoplastic labia majora, Aplas...	OMIM:601803
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia, Hypospadias, Cryptorchidism	OMIM:309800
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Genitopatellar Syndrome	Colpocephaly, Agenesis of corpus callosum, Dysphagia	OMIM:606170
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pde11a

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pde11a.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The Sleep Quality- and Myopia-Linked PDE11A-Y727C Variant Impacts Neural Physiology by Reducing Catalytic Activity and Altering Subcellular Compartmentalization of the Enzyme.	Cells (December 2023)	Pde11a^em1(IMPC)Mbp	PMC10742168

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MGI Allele	Allele Type	Produced
Pde11a^{tm39416(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pde11a^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Pde11a^{tm39416(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pde11a^{tm39416(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pde11a MGI:3036251

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Pde11a mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data