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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	P Value
abnormal eye morphology	Pde11a^em1(IMPC)Mbp	HOM	Early adult	0.00
hydrometra	Pde11a^em1(IMPC)Mbp	HOM	Early adult	0.00
increased vertical activity	Pde11a^em1(IMPC)Mbp	HOM	Early adult	6.14×10^-05
abnormal testis morphology	Pde11a^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal ovary morphology	Pde11a^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal uterus morphology	Pde11a^em1(IMPC)Mbp	HOM	Early adult	0.00
small testis	Pde11a^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Pde11a^em1(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

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 (662 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		Agitation, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical diseas...	OMIM:610475
Carney Complex		Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria...	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, Compulsive behaviors, Reduced social reciprocity	OMIM:618830
Asperger Syndrome, Susceptibility To, 1	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:608631
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so...	OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 66	Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Excessive shyness	OMIM:618221
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Autism, Susceptibility To, 8	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:607373
Autism	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:209850
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Reduced social reciprocity, Motor stereotypy	OMIM:606053
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Gait disturbance, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Intellectual Developmental Disorder, Autosomal Recessive 64	Reduced social reciprocity, Aggressive behavior	OMIM:618103
46,Xy Sex Reversal 11	Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Urogenital...	OMIM:273250
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,...	ORPHA:206484
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Ovarian Dysgenesis 6	Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ...	OMIM:618078
Leydig Cell Hypoplasia	Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal...	ORPHA:755
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Biemond Syndrome Type 2	Delayed puberty, Microphthalmia, Hypospadias, Hypogonadism, Hypogonadotropic hypogonadism	ORPHA:141333
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia	OMIM:615524
Ovarian Dysgenesis 2	Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon...	OMIM:300510
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Steppage ga...	ORPHA:168563
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Spinocerebellar Ataxia 32	Infertility, Ataxia, Testicular atrophy, Azoospermia	OMIM:613909
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia	ORPHA:276183
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre...	OMIM:614841
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism	ORPHA:363741
Kennedy Disease	Erectile dysfunction, Gait disturbance, Type II diabetes mellitus, Decreased fertility, Testicula...	ORPHA:481
Hepatic Adenomas, Familial	Polycystic ovaries, Maturity-onset diabetes of the young	OMIM:142330
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys...	ORPHA:1916
Xp22.3 Microdeletion Syndrome	Secondary amenorrhea, Aplasia/Hypoplasia affecting the eye, Polycystic ovaries, Decreased fertili...	ORPHA:1643
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea	ORPHA:397685
Perrault Syndrome 6	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas...	OMIM:617565
Complete Androgen Insensitivity Syndrome	Delayed puberty, Blind vagina, Increased circulating antimullerian hormone concentration, Abnorma...	ORPHA:99429
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Premature Ovarian Failure 7	Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ...	OMIM:612964
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Hypogonadism	OMIM:601794
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at...	ORPHA:52901
Ovarian Dysgenesis 9	Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci...	OMIM:619665
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent...	OMIM:614837
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u...	ORPHA:90797
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu...	ORPHA:753
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Premature Ovarian Failure 18	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second...	OMIM:619203
Ovarian Dysgenesis 7	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:618117
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Reduced social reciprocity, Aggressive behavior	ORPHA:329249
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Aniridia, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Str...	OMIM:194072
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Absent external genitalia, Urogenital...	ORPHA:325124
Premature Ovarian Failure 13	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen...	OMIM:617442
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav...	ORPHA:101039
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P...	OMIM:233420
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Dysphagia	OMIM:313200
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Microphthalmia	ORPHA:3469
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Neoplasm of the pancreas, Ovarian neoplasm, Abnormal fallopian tube morphology	ORPHA:145
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism	ORPHA:2229
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat...	OMIM:228300
Ovarian Fibrothecoma	Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ...	ORPHA:314478
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Ovarian Dysgenesis 5	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:617690
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Mullerian Aplasia And Hyperandrogenism	Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen...	OMIM:158330
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614842
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Leukoencephalopathy With Vanishing White Matter 5	Loss of ambulation, Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Vaginal atresia, Attention deficit hyperactivity disorder...	OMIM:617914
Hsd10 Disease	Abnormal social behavior, Gait disturbance, Ataxia, Dysphagia, Ventriculomegaly, Choreoathetosis	ORPHA:391417
Perrault Syndrome 4	Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus...	OMIM:615300
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cryptorchidism	OMIM:613730
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Rudiger Syndrome	Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Satoyoshi Syndrome	Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of...	ORPHA:3130
Nanophthalmos	Microphthalmia	ORPHA:35612
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Autism, Susceptibility To, 3	Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi...	OMIM:608049
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Aromatase Deficiency	Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Ataxia, Hypogonadotropic hypogonadism, Dysmetria	ORPHA:48431
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries	ORPHA:2795
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Microphthalmia	OMIM:274270
46,Xx Sex Reversal 4	Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ...	OMIM:617480
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormality o...	ORPHA:2470
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
46,Xy Sex Reversal 10	Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic...	OMIM:616425
Autosomal Recessive Spastic Paraplegia Type 66	Spastic gait, Difficulty walking, Colpocephaly	ORPHA:401815
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Ataxia	OMIM:278780
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Absenc...	ORPHA:251510
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased female li...	ORPHA:432
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Choreoathetosis, Micropenis, Dysphagia	OMIM:308350
Nanophthalmos 4	Microphthalmia	OMIM:615972
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri...	OMIM:610125
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia	ORPHA:488635
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology, Ataxia	ORPHA:73256
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:602342
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:600348
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Primary...	ORPHA:247768
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Bangstad Syndrome	Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Atax...	ORPHA:1227
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis...	OMIM:278850
Congenital Fibrinogen Deficiency	Decreased testicular size, Hemorrhagic ovarian cyst, Microphthalmia, Micropenis	ORPHA:335
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Meckel Syndrome, Type 8	Ambiguous genitalia, Microphthalmia, Anophthalmia	OMIM:613885
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre...	OMIM:615363
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Ataxia	OMIM:615771
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Osteoporosis-Pseudoglioma Syndrome	Loss of ambulation, Isosexual precocious puberty, Microphthalmia, Waddling gait	ORPHA:2788
Myotonic Dystrophy 1	Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy	OMIM:160900
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Microphthalmia, Ovarian neoplasm, Ataxia	OMIM:617883
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2547
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Microphthalmia, Cryptorchidism	ORPHA:85284
Warburg Micro Syndrome 4	Microphthalmia, Inability to walk, Decreased testicular size, Small scrotum, Cryptorchidism, Micr...	OMIM:615663
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior	ORPHA:444002
Moebius Syndrome	Microphthalmia, Dysdiadochokinesis, Gait disturbance, Decreased testicular size, Dysphagia, Micro...	OMIM:157900
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ...	OMIM:202010
Joubert Syndrome 37	Decreased testicular size, Microphthalmia, Cryptorchidism, Micropenis	OMIM:619185
Functioning Gonadotropic Adenoma	Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h...	ORPHA:91348
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Inappropriate behavior, Gait disturbance, Disinhibition, Lateral ventricle dilatation, Aggressive...	OMIM:221770
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:289548
Amed Syndrome, Digenic	Attention deficit hyperactivity disorder, Adrenal hypoplasia, Hypoplasia of the uterus	OMIM:619151
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia	ORPHA:93267
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Bilateral cryptorchidism	OMIM:618652
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis, Cryptorchidism	ORPHA:77298
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hypospadias, Dysphagia, Attention deficit hyperactivity disorder, Self-injurious ...	ORPHA:494344
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Intellectual Developmental Disorder, Autosomal Dominant 56	Inability to walk, Broad-based gait, Impulsivity, Ataxia, Reduced social reciprocity, Lateral ven...	OMIM:617854
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Cryptorchidism, Anophthalmia, Abnormality of the hypothalamus-pituitary axis	ORPHA:139471
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microphthalmia, Micropenis	OMIM:610756
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Trisomy 13	Microphthalmia, Anophthalmia, Displacement of the urethral meatus, Aplasia/Hypoplasia of the iris...	ORPHA:3378
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Dilated fourth ventricle, Motor stereotypy, Lateral ventricle dilatation, Vent...	OMIM:613443
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima...	ORPHA:3109
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Agitation, Hyperactivity, Ataxia, Restlessness, Overfriendliness, Crypt...	ORPHA:369891
Warburg Micro Syndrome 3	Microphthalmia, Inability to walk, Hypoplastic labia minora, Decreased testicular size, Small scr...	OMIM:614222
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio...	ORPHA:90301
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Abnormal scrotum morphology, Small scrotum, Cryptorchidism	ORPHA:2505
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Seckel Syndrome 2	Microphthalmia, Hypospadias	OMIM:606744
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Bicornuate uterus, Azoospermia	OMIM:601076
Ovarian Dysgenesis 3	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:614324
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Lateral ventricle dilatation	ORPHA:306669
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor stereotypy	ORPHA:530983
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Vaginal atresia, Anophthalmia	OMIM:248450
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati...	ORPHA:785
Leukoencephalopathy, Progressive, With Ovarian Failure	Ataxia, Lateral ventricle dilatation	OMIM:615889
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Inability to walk, Microphthalmia, Cryptorchidism, Dysphagia	OMIM:618494
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Microphthalmia, Female infertility, Amenorrhea, Increased circul...	OMIM:110100
Warburg Micro Syndrome 2	Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:614225
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Polymicrogyria Due To Tubb2B Mutation	Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Abnormal temper tantrums, ...	ORPHA:300573
Kallmann Syndrome	Delayed puberty, Breast hypoplasia, Decreased fertility, Erectile dysfunction, Anterior hypopitui...	ORPHA:478
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Reduced social reciprocity, Motor stereotypy, Attention deficit hyperactiv...	OMIM:610042
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Attention deficit hyperactivity disorder, Microphthalmia, Cryptorchidism, Compulsive behaviors	ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Inability to walk	OMIM:613155
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:214150
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature pubarche, Am...	ORPHA:90795
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hemochromatosis, Type 1	Azoospermia, Impotence, Testicular atrophy, Amenorrhea, Diabetes mellitus, Hypogonadotropic hypog...	OMIM:235200
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Scissor gait, Lateral ventricle dilatation	ORPHA:363654
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Colpocephaly, Ataxia, Ventriculomegaly, Choreoathetosis	OMIM:616034
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Seckel Syndrome 7	Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea	OMIM:614851
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Cryptorchidism, Septo-optic dysplasia, Vaginal atresia	ORPHA:3301
Micro Syndrome	Delayed puberty, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplas...	ORPHA:2510
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Wolfram Syndrome 1	Diabetes insipidus, Hypothyroidism, Ataxia, Dysphagia, Diabetes mellitus, Testicular atrophy	OMIM:222300
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Hypoplastic labia majora	ORPHA:2328
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Microphthalmia, Cryptorchidism	ORPHA:2728
Baraitser-Winter Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis	OMIM:243310
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Myoclonic-Astatic Epilepsy	Microphthalmia, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder	ORPHA:1942
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Congenital hypoparathyroid...	OMIM:241410
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Agitation, Polyphagia, Disinhibition, Lateral ventricle dilatation, Repetitive compulsive behavio...	OMIM:607485
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno...	OMIM:146255
Microphthalmia-Brain Atrophy Syndrome	Tongue thrusting, Lateral ventricle dilatation	ORPHA:77299
Pontocerebellar Hypoplasia, Type 1A	Limb ataxia, Ataxia, Dysphagia, Lateral ventricle dilatation	OMIM:607596
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ...	OMIM:241080
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Impulsivity, Lens coloboma, Motor stereotypy, Self-injurious behavior, Aggressive...	OMIM:618914
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Prematu...	ORPHA:3464
Satoyoshi Syndrome	Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry...	ORPHA:2250
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Kapur-Toriello Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:244300
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas...	OMIM:154230
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism	OMIM:619135
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Bilateral cryptorchidism	OMIM:616395
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Broad-based gait	OMIM:618805
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Attention deficit hyperactivity disorder, Microphthalmia, Agitation, Aggressive behavior	OMIM:152950
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Ataxia, Hypogonadism	OMIM:610651
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
17Q12 Microduplication Syndrome	Self-injurious behavior, Microphthalmia	ORPHA:261272
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bruxism, Inability to walk, Lateral ventricle dilatation	OMIM:615716
Pigmented Nodular Adrenocortical Disease, Primary, 2	Agitation, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical diseas...	OMIM:610475
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Hyperactivity, Bifid scrotum, Cryptorchid...	OMIM:619148
Gracile Bone Dysplasia	Microphthalmia, Micropenis, Aniridia	OMIM:602361
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Bardet-Biedl Syndrome 1	Gait imbalance, Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular si...	OMIM:209900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Marden-Walker Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Hypospadias	OMIM:248700
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Compulsive behaviors, Gait disturbance, Attention deficit hyperactivity disorder,...	OMIM:620098
Microphthalmia, Lenz Type	Self-injurious behavior, Microphthalmia, Cryptorchidism, Hypospadias	ORPHA:568
Vacterl With Hydrocephalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:3412
Early-Onset Autosomal Dominant Alzheimer Disease	Agitation, Ataxia, Abnormal social behavior, Disinhibition	ORPHA:1020
Pseudotrisomy 13 Syndrome	Microphthalmia, Adrenal hypoplasia, Bicornuate uterus, Cryptorchidism, Micropenis	OMIM:264480
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Bilateral Generalized Polymicrogyria	Oral-pharyngeal dysphagia, Self-injurious behavior, Motor stereotypy, Lateral ventricle dilatation	ORPHA:208447
Familial Adenomatous Polyposis 4	Uterine leiomyoma, Ovarian cyst, Thyroid adenoma	OMIM:617100
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Walker-Warburg Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia, Hypoplasia of penis	ORPHA:899
Pyruvate Dehydrogenase E1-Alpha Deficiency	Inability to walk, Ataxia, Agenesis of corpus callosum, Lateral ventricle dilatation, Ventriculom...	ORPHA:79243
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Motor stereotypy, Hyperactivity, Lateral ventricle dilatation	OMIM:617751
3Q29 Microdeletion Syndrome	Microphthalmia, Hypospadias, Gait disturbance, Attention deficit hyperactivity disorder, Aggressi...	ORPHA:65286
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Cryptorchidism, Hypoplasia of the iris	OMIM:613001
Lesch-Nyhan Syndrome	Self-injurious behavior, Choreoathetosis, Testicular atrophy, Dysphagia	OMIM:300322
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Congenital Rubella Syndrome	Type I diabetes mellitus, Microphthalmia, Aplasia/Hypoplasia of the iris	ORPHA:290
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Difficulty walking, Gait imbalance, Gait disturbance, Dysphagia, Late...	ORPHA:488627
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hyp...	OMIM:603457
Lissencephaly 8	Microphthalmia	OMIM:617255
Mosaic Trisomy 9	Hypoplastic female external genitalia, Microphthalmia, Abnormal fallopian tube morphology, Hypopl...	ORPHA:99776
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Childhood Absence Epilepsy	Attention deficit hyperactivity disorder, Punding, Abnormal social behavior	ORPHA:64280
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre...	ORPHA:2237
Meckel Syndrome 14	Ambiguous genitalia, Microphthalmia, Aplasia of the uterus	OMIM:619879
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Microphthalmia, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of ...	OMIM:309801
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Colpocephaly, Ataxia, Self-injurious behavior, Ventriculomegaly, Aggressive behavior	OMIM:619833
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:612530
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Gait ataxi...	OMIM:157640
Fanconi Anemia, Complementation Group L	Attention deficit hyperactivity disorder, Microphthalmia, Aplasia of the uterus, Micropenis	OMIM:614083
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Amenorrh...	ORPHA:465508
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Hypospadias, Macroorchidism	OMIM:618874
Cach Syndrome	Limb ataxia, Truncal ataxia, Dysphagia, Lateral ventricle dilatation, Dysmetria	ORPHA:135
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno...	ORPHA:95699
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Martsolf Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:212720
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume	OMIM:301108
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyperactivity, Self-injurious behavior, Lateral ventricle dilatation, Aggressive behavior	OMIM:620075
Pontocerebellar Hypoplasia, Type 13	Dandy-Walker malformation, Inability to walk, Lateral ventricle dilatation, Gait ataxia	OMIM:618606
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hypoplasia of penis	ORPHA:284160
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Microphthalmia, Hypospadias	OMIM:616449
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Ataxia, Lateral ventricle dilatation	OMIM:608629
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:618736
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Microphallus	OMIM:603467
Fryns Syndrome	Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism	ORPHA:2059
Temtamy Syndrome	Microphthalmia, Self-mutilation	OMIM:218340
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Holoprosencephaly 5	Hydrocephalus, Lateral ventricle dilatation	OMIM:609637
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:614230
Fanconi Anemia, Complementation Group A	Male infertility, Cryptorchidism, Microphthalmia, Hypergonadotropic hypogonadism	OMIM:227650
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasia, Abnorma...	ORPHA:2166
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Dysphagia	OMIM:612379
1Q21.1 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Microphthalmia, Cryptorchidism	ORPHA:250989
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Fanconi Anemia, Complementation Group E	Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism	OMIM:600901
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Type II diabetes mellitus	ORPHA:3191
Ovarian Hyperstimulation Syndrome	Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria...	ORPHA:64739
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:609441
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus	OMIM:601186
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
3P25.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Microphthalmia, Ataxia, Motor stereotypy	ORPHA:435638
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Jacobsen Syndrome	Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Cryptorchi...	OMIM:147791
Monosomy 18P	Hypothyroidism, Microphthalmia	ORPHA:1598
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Spastic gait, Tip-toe gait, Dilated third ventricle, Lateral ventricle dilatation, Partial agenes...	OMIM:617296
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Malan Overgrowth Syndrome	Ventriculomegaly, Episodic ataxia, Lateral ventricle dilatation	ORPHA:420179
Developmental And Epileptic Encephalopathy 31B	Choking episodes, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Craniosynostosis 6	Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:616602
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Difficulty walking, Hypospadias, Cholelithiasis, Inability to walk, Male urethral...	ORPHA:464738
Joubert Syndrome 2	Hypoplastic male external genitalia, Microphthalmia, Ataxia	OMIM:608091
Fanconi Anemia, Complementation Group I	Hypothyroidism, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Mi...	OMIM:609053
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620156
Wars2-Related Combined Oxidative Phosphorylation Defect	Difficulty walking, Athetosis, Dilated fourth ventricle, Ataxia, Dysphagia, Lateral ventricle dil...	ORPHA:572798
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Difficulty walking, Inability to walk, Gait disturbance	OMIM:618571
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Hypergonadotropic hypogonadism, Attention deficit hyperactivity...	OMIM:227646
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism, Pica	OMIM:614527
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Mend Syndrome	Hyperactivity, Microphthalmia, Cryptorchidism, Aggressive behavior	ORPHA:401973
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Inability to walk, Delayed early-childhood social milestone develo...	ORPHA:300570
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Weiss-Kruszka Syndrome	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618619
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Monosomy 9Q22.3	Hyperactivity, Ovarian fibroma, Microphthalmia	ORPHA:77301
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Communicating hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:615219
Dubowitz Syndrome	Microphthalmia, Hypospadias, Hyperactivity, Hypoplasia of the iris, Cryptorchidism	OMIM:223370
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia	ORPHA:370959
Tetraamelia Syndrome 1	Microphthalmia, Hypoplasia of the fallopian tube, Vaginal atresia, Adrenal gland agenesis, Absent...	OMIM:273395
Cohen Syndrome	Delayed puberty, Microphthalmia, Cryptorchidism	ORPHA:193
Meckel Syndrome	Microphthalmia, Anophthalmia, Pancreatic fibrosis, Male pseudohermaphroditism, True hermaphroditi...	ORPHA:564
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos, Waddling gait	ORPHA:2839
Fanconi Anemia, Complementation Group C	Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism	OMIM:227645
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation	OMIM:611134
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Aggressive be...	OMIM:619244
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati...	ORPHA:572333
Hallermann-Streiff Syndrome	Hyperactivity, Microphthalmia, Cryptorchidism, Choreoathetosis	OMIM:234100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Fg Syndrome Type 1	Abnormal social behavior, Broad-based gait, Hydrocephalus, Compulsive behaviors, Attention defici...	ORPHA:93932
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Adrenal hypoplasia, Panhyp...	OMIM:146510
Refsum Disease	Microphthalmia, Ataxia	ORPHA:773
Norrie Disease	Delayed puberty, Microphthalmia, Erectile dysfunction, Uterine rupture, Aplasia/Hypoplasia of the...	ORPHA:649
Trisomy 18	Microphthalmia, Cryptorchidism, Abnormal morphology of female internal genitalia	ORPHA:3380
Limb-Mammary Syndrome	Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop...	ORPHA:69085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Buphthalmos, Cryptor...	OMIM:236670
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Microphthalmia, Hypospadias, Abnormal fallopian tube morphology...	ORPHA:2556
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Halperin-Birk Syndrome	Inability to walk, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Pseudobulbar para...	OMIM:618651
Bartsocas-Papas Syndrome 1	Microphthalmia, Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus,...	OMIM:263650
Fanconi Anemia	Microphthalmia, Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased fertility in m...	ORPHA:84
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis	OMIM:617925
Norrie Disease	Buphthalmos, Microphthalmia, Aggressive behavior, Hypoplasia of the iris	OMIM:310600
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Giant Axonal Neuropathy 1, Autosomal Recessive	Steppage gait, Lateral ventricle dilatation	OMIM:256850
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Ambiguous genitalia, female	OMIM:260660
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Charge Syndrome	Delayed puberty, Abnormality of the adrenal glands, Microphthalmia, Anterior hypopituitarism, Ano...	ORPHA:138
Treacher-Collins Syndrome	Abnormality of the adrenal glands, Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Thy...	ORPHA:861
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Male sexual dysfunction, Absen...	ORPHA:322
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Microphthalmia, Cryptorchidism	OMIM:616300
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus	OMIM:615866
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Head-banging, Dilated third ventricle, Frequent temper tantrums, Lateral ventricle...	OMIM:619575
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
2Q31.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis	ORPHA:251014
Joubert Syndrome 14	Microphthalmia, Ataxia	OMIM:614424
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Attention defi...	ORPHA:544488
Glutaric Acidemia I	Hydrocephalus, Choreoathetosis, Lateral ventricle dilatation	OMIM:231670
Metachromatic Leukodystrophy, Late Infantile Form	Tip-toe gait, Progressive gait ataxia, Abnormal social behavior, Gait ataxia	ORPHA:309256
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Mosaic Trisomy 1	Penile hypospadias, Microphthalmia, Micropenis	ORPHA:1692
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Abnormal social behavior, Head-banging, Compulsive behaviors, Skin-pick...	ORPHA:177907
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal temper tantrums, Ataxia, Unsteady gait, Motor stereotypy, Lateral ventricle dilatation, ...	ORPHA:457279
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre...	OMIM:137920
X-Linked Intellectual Disability, Snyder Type	Inability to walk, Hypospadias, Abnormality of the Leydig cells, Unsteady gait, Cryptorchidism, T...	ORPHA:3063
Steinert Myotonic Dystrophy	Impotence, Aggressive behavior, Decreased response to growth hormone stimulation test, Hyperinsul...	ORPHA:273
Rodrigues Blindness	Microphthalmia	OMIM:268320
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Decreased fertility	OMIM:234050
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria...	ORPHA:1359
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Microphthalmia, Hypospadias, Attention deficit hyperactivity disorder, Cryptorc...	OMIM:616975
Fryns Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, Shawl s...	OMIM:229850
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral cryptorchidism, Ambiguo...	OMIM:618280
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Pallister-Hall Syndrome	Microphthalmia, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrometrocolpo...	ORPHA:672
Fraser Syndrome 2	Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Ovarian carcinoma, Microphthalmia	OMIM:109400
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Cryptorchidism, Hypogonadism, Microphthalmia	OMIM:268400
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Histiocytoid Cardiomyopathy	Polycystic ovaries, Microphthalmia, Congenital aphakia	ORPHA:137675
Fraser Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Anophthalmia, Bicor...	ORPHA:2052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ...	OMIM:613154
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia, Hyperinsulinemia,...	OMIM:620185
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Choreoathetosis, Ataxia	OMIM:278730
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Phace Association	Optic nerve hypoplasia, Microphthalmia, Lingual thyroid, Congenital hypothyroidism	OMIM:606519
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Mosaic Variegated Aneuploidy Syndrome	Hypothyroidism, Ambiguous genitalia, Microphthalmia, Vaginal neoplasm	ORPHA:1052
Holoprosencephaly	Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Diabetes insipidus, Anophthalmia, ...	ORPHA:2162
Hallermann-Streiff Syndrome	Hypothyroidism, Microphthalmia, Cryptorchidism	ORPHA:2108
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Supernumerary nipple	OMIM:613884
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Frontorhiny	Hypopituitarism, Microphthalmia, Diabetes insipidus	ORPHA:391474
Roberts Syndrome	Clitoral hypertrophy, Cryptorchidism, Microphthalmia, Long penis	ORPHA:3103
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Agitation, Dysphagia, Lateral ventricle dilatation	ORPHA:2148
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ...	OMIM:201750
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Hypospadias, Optic nerve hypoplasia, Microphallus, Motor stereotypy, Se...	ORPHA:468631
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Perineal fistula, Rectovaginal fistula, Anophthalmia	ORPHA:2538
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Adrenal hypoplasia, Bile ...	OMIM:249000
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Monosomy 9P	Ambiguous genitalia, Microphthalmia, Cryptorchidism, Hypospadias	ORPHA:261112
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Hypospadias, Bifid scrotum, Clitoral hypoplasia, Cryptorchidism, Micropenis	OMIM:609945
48,Xxxy Syndrome	Attention deficit hyperactivity disorder, Abnormal social behavior	ORPHA:96263
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Colpocephaly, Dysphagia	ORPHA:261250
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Microph...	ORPHA:534
Cockayne Syndrome B	Microphthalmia, Hypoplasia of the iris, Ataxia, Cryptorchidism, Micropenis	OMIM:133540
Incontinentia Pigmenti	Attention deficit hyperactivity disorder, Microphthalmia, Supernumerary nipple, Gait disturbance	ORPHA:464
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Microphthalmia, Cryptorchidism, Hypospadias	OMIM:616734
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Microphthalmia	OMIM:300952
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Microphthalmia, Hypospadias, Abnormal vagina morphology, Bifid uterus	OMIM:236680
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Anophthalmia, Hypothyroidism, Phthisis bulbi, Septate vagina, Crypto...	OMIM:300166
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Clitoral hypoplasia, Elevated circulating follicle stimulating hormone level,...	OMIM:618419
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Bilateral microphthalmos, Abnormal circulating follicle-stimulating ho...	ORPHA:93325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Hypothyroidism, Microphthalmia, Cryptorchidism	OMIM:620005
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Tuberous Sclerosis Complex	Abnormal social behavior, Subependymal nodules, Hyperactivity, Impulsivity, Noncommunicating hydr...	ORPHA:805
22Q11.2 Deletion Syndrome	Microphthalmia, Hypoparathyroidism, Hypospadias, Cholelithiasis, Hypoplasia of the thymus, Hypoth...	ORPHA:567
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620113
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, Cryptorchidism, Gait ataxia	ORPHA:33364
Cockayne Syndrome	Delayed puberty, Microphthalmia, Difficulty walking, Inability to walk, Gait disturbance, Cryptor...	ORPHA:191
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal...	ORPHA:857
Incontinentia Pigmenti	Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Hypoplasia of the fovea, ...	OMIM:308300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Dandy-Walker malformation, Dilated third ventricle, Colpocephaly, Lateral ventricle dilatation, V...	ORPHA:397715
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Autosomal Recessive Spastic Paraplegia Type 11	Inability to walk, Gait disturbance, Ataxia, Dysphagia, Lateral ventricle dilatation	ORPHA:2822
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Charge Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, External genital hypoplas...	OMIM:214800
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, True anophthalmia	ORPHA:1106
Spondyloenchondrodysplasia	Ventriculomegaly, Abnormal lateral ventricle morphology	ORPHA:1855
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microphthalmia, Hypospadias, Motor stereotypy	ORPHA:508498
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism...	OMIM:620186
Myhre Syndrome	Microphthalmia, Cryptorchidism, Ataxia	OMIM:139210
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Bicornuate uterus, Vag...	OMIM:219000
Aicardi Syndrome	Delayed puberty, Microphthalmia, Precocious puberty	ORPHA:50
Galloway-Mowat Syndrome 1	Microphthalmia, Ataxia, Hypoplasia of the iris	OMIM:251300
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid...	ORPHA:99413
Turner Syndrome	Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid...	ORPHA:881
Mosaic Monosomy X	Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid...	ORPHA:99228
Monosomy X	Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid...	ORPHA:99226
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Abnormal social behavior, Nonprogressive cerebellar ataxia, Ataxia, Unsteady gait, Dysmetria, Agg...	ORPHA:314647
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Choreoacanthocytosis	Self-injurious behavior, Socially inappropriate behavior, Hair-pulling, Falls, Hyperactivity, Hea...	ORPHA:2388
Metachromatic Leukodystrophy, Juvenile Form	Abnormal social behavior, Progressive gait ataxia	ORPHA:309263
Gabriele-De Vries Syndrome	Tip-toe gait, Attention deficit hyperactivity disorder, Waddling gait, Lateral ventricle dilatation	OMIM:617557
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:617260
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal parotid gland morphology, Cryptorchidism	OMIM:154500
Wolf-Hirschhorn Syndrome	Hypospadias, Aplasia of the uterus, Precocious puberty, Rieger anomaly, Motor stereotypy, Cryptor...	OMIM:194190
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Cryptorchidism, Motor stereotypy, Aggressive behavior	OMIM:309000
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Polyphagia, Compulsive behaviors, Reduced social reciprocity, Lateral ventricle di...	OMIM:615873
Neu-Laxova Syndrome 1	Microphthalmia, Bifid uterus, Cryptorchidism	OMIM:256520
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Yunis-Varon Syndrome	Clitoral hypertrophy, Microphthalmia, Bilateral microphthalmos, Hypospadias, Cryptorchidism, Micr...	ORPHA:3472
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Renpenning Syndrome 1	Decreased testicular size, Phimosis, Microphthalmia, Hypospadias	OMIM:309500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia	OMIM:601812
Metachromatic Leukodystrophy, Adult Form	Difficulty walking, Abnormal social behavior, Progressive gait ataxia	ORPHA:309271
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Adrenal hypoplasia, Abnormality of the hy...	OMIM:607932
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hypospadias, Hyperactivity...	OMIM:613406
Fontaine Progeroid Syndrome	Microphthalmia, Hypoplastic nipples, Absent nipple, Small scrotum, Cryptorchidism, Micropenis, Hy...	OMIM:612289
Degcags Syndrome	Microphthalmia, Hypospadias, Oral-pharyngeal dysphagia, Choking episodes, Chordee, Ambiguous geni...	OMIM:619488
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Hypoparathyroidism	OMIM:127000
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Inability to walk, Hydrocephalus, Dilated third ventricle, Colpocephaly, Lateral ventricle dilata...	OMIM:620371
Aicardi Syndrome	Precocious puberty, Microphthalmia	OMIM:304050
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Microphthalmia	ORPHA:2612
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, Compulsive behaviors, Gait ataxia, Cryp...	OMIM:135900
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris	ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Holoprosencephaly 1	Microphthalmia, Adrenal hypoplasia, Micropenis, Diabetes insipidus	OMIM:236100
Peroxisome Biogenesis Disorder 5A (Zellweger)	Athetosis, Colpocephaly, Agenesis of corpus callosum	OMIM:614866
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Pancreatic cysts	OMIM:274000
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Ehlers-Danlos Syndrome, Vascular Type	Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture	OMIM:130050
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Hypothyroidism, Lens coloboma, Ectopic thyroid	ORPHA:42775
Steinfeld Syndrome	Absent gallbladder, Microphthalmia	OMIM:184705
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipples, Clitoral hypoplas...	OMIM:305600
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, External genital hypoplasia, Anophthalmia	ORPHA:141099
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Inability to walk, Colpocephaly, Ataxia	OMIM:620083
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Khan-Khan-Katsanis Syndrome	Ventriculomegaly, Colpocephaly, Dysphagia	OMIM:618460
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Oculodentodigital Dysplasia	Microphthalmia, Ataxia	OMIM:164200
Okamoto Syndrome	Bifid uterus, Abnormally large globe	ORPHA:2729
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc...	OMIM:276820
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Koolen-De Vries Syndrome Due To A Point Mutation	Abnormal social behavior, Hydrocephalus, Inappropriate laughter, Agenesis of corpus callosum, Ove...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Abnormal social behavior, Hydrocephalus, Inappropriate laughter, Agenesis of corpus callosum, Ove...	ORPHA:363958
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Hypothyroidism, Bifid ut...	OMIM:107480
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Abnormal fear-induced behavior, Hyperactivity, Compulsive ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Abnormal fear-induced behavior, Hyperactivity, Compulsive ...	ORPHA:353277
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h...	OMIM:609049
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Cockayne Syndrome Type 3	Microphthalmia, Difficulty walking, Unsteady gait	ORPHA:90324
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Attention deficit hyperactivity disorder, Colpocephaly, Agenesis of c...	OMIM:618820
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Niemann-Pick Disease Type C	Abnormal social behavior, Compulsive behaviors, Gait disturbance, Ataxia, Dysphagia, Disinhibitio...	ORPHA:646
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Panhypopituitarism	OMIM:610828
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Inability to walk, Broad-based gait, Bruxism, Bifid scrotum, Oligome...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Hypospadias, Inability to walk, Broad-based gait, Bruxism, Bifid scrotum, Chordee...	ORPHA:261537
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Microphthalmia, Hypospadias, Long penis, Bicornuate ...	OMIM:268300
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microphthalmia	ORPHA:3186
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Smith-Lemli-Opitz Syndrome	Hydrocephalus, Dandy-Walker malformation, Hyperactivity, Self-mutilation, Colpocephaly, Partial a...	OMIM:270400
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Abnormal social behavior	ORPHA:1675
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism, Supernumerary nipple	OMIM:235730
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Ectopic thymus tissue, Cryptorchidism, Supernumerary n...	OMIM:113620
6Q Terminal Deletion Syndrome	Colpocephaly, Dysmetria, Gait ataxia	ORPHA:75857
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Hypospadias, Inability to walk, Broad-based gait, Bruxism, Bifid scrotum, Chordee...	ORPHA:261552
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Microphthalmia, Syndromic 1	Microphthalmia, Hypospadias, Anophthalmia, Cryptorchidism, Self-mutilation, Aggressive behavior	OMIM:309800
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Microphthalmia, Motor stereotypy	OMIM:612474
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Neuroocular Syndrome	Attention deficit hyperactivity disorder, Microphthalmia, Hypoplasia of the fovea, Lens coloboma	OMIM:619539
Peters Plus Syndrome	Hypospadias, Anterior hypopituitarism, Congenital hypothyroidism, Clitoral hypoplasia, Cryptorchi...	ORPHA:709
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Hyperactivity, Optic nerve hypoplasia, Dysphagia, Tics, Ectopic posteri...	ORPHA:508488
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Inability to walk, Labial hypoplasia, Aplasia of the ut...	OMIM:601803
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Lateral ventricle dilatation, Partial a...	OMIM:210710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Holoprosencephaly 13, X-Linked	Colpocephaly, Agenesis of corpus callosum	OMIM:301043
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism	ORPHA:286
Peters-Plus Syndrome	Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Hypoplasia of the vagina, Cryptorchidism,...	OMIM:261540
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Williams Syndrome	Gait imbalance, Abnormal social behavior, Compulsive behaviors, Gait disturbance, Ataxia, Overfri...	ORPHA:904
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Holoprosencephaly 2	Microphthalmia, Adrenal hypoplasia, Anterior pituitary agenesis, Diabetes insipidus	OMIM:157170
Genitopatellar Syndrome	Colpocephaly, Dysphagia, Agenesis of corpus callosum	OMIM:606170
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris	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.

No publications found that use IMPC mice or data for Pde11a.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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