Gene Summary

Name:
phosphodiesterase 11A
Synonyms:
A630086N24Rik,  6330414F14Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Pde11aem1(IMPC)Mbp HOM Early adult 0.00
abnormal ovary morphology Pde11aem1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Pde11aem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Pde11aem1(IMPC)Mbp HOM Early adult 0.00
hydrometra Pde11aem1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Pde11aem1(IMPC)Mbp HOM Early adult 0.00
small testis Pde11aem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

Human diseases caused by Pde11a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Pde11a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Pigmented Nodular Adrenocortical Disease
Pigmented micronodular adrenocortical disease, Hypogonadism, Adrenal hyperplasia, Diabetes mellitus ORPHA:189439
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Microcephaly 25, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microcephaly, Attention deficit hyperactivity disorder OMIM:618351
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 3
Progressive microcephaly, Hyperactivity OMIM:608443
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Hyperactivity, Microcepha... OMIM:616657
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Simplified gyral pattern, Hyperactiv... OMIM:613402
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder OMIM:618221
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Immunodeficiency 8
Hyperactivity OMIM:615401
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Microphthalmia, Anophthalmia OMIM:615524
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Pachygyria OMIM:606053
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Mental Retardation, Autosomal Dominant 33
Microcephaly, Hyperactivity OMIM:616311
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
Faciothoracogenital Syndrome
Glandular hypospadias, Shawl scrotum, Microphthalmia, Prominent scrotal raphe OMIM:227320
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Hypoplasia of the corpus callosum, Abnormal corpus callosum morphology, Polymicrogyri... OMIM:604317
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Secondary amenorrhea, Hypogonadotropic hypogonadism, Decreased fertility, Apl... ORPHA:1643
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Microphthalmia, External genital hypoplasia ORPHA:363741
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microphthalmia ORPHA:2528
Nanophthalmos 4
Microphthalmia OMIM:615972
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... OMIM:615723
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency ORPHA:261483
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Microphthalmia OMIM:601794
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Increased circulating gonadotropin level, Male hypogonadism, Abnormal vagina morphol... ORPHA:168563
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Intellectual Developmental Disorder, X-Linked 104
Poor eye contact, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Hyperacti... OMIM:300983
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Aniridia, Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, ... OMIM:194072
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hypoplasia of the corpus callosum, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Attention deficit hyperactivity disorder, Pachygyria, Abnormal caudate n... ORPHA:300573
Insulin-Like Growth Factor I Deficiency
Microcephaly, Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Alg13-Cdg
Poor eye contact, Abnormal lateral ventricle morphology ORPHA:324422
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ventriculomegaly, Abnormal cerebral white matter morphology, Ataxia, Brady... ORPHA:248111
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Hereditary Breast And Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Neoplasm of the pancreas, Prostate cancer, Ovarian neoplasm ORPHA:145
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uteru... OMIM:158330
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Central Neurocytoma
Lethargy, Hydrocephalus, Ataxia, Cerebral calcification, Abnormal lateral ventricle morphology ORPHA:73256
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... ORPHA:2795
Oculocerebrocutaneous Syndrome
Cryptorchidism, Microphthalmia, Anophthalmia OMIM:164180
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Aminoacylase 1 Deficiency
Cerebral atrophy, Hyperactivity OMIM:609924
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Ovarian Fibroma
Ovarian fibroma, Abnormality of the ovary, Gonadal calcification ORPHA:314473
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Amenorrhea, Aplasia of the vagina OMIM:277000
Hydatidiform Mole
Enlarged uterus, Spontaneous abortion, Hyperthyroidism, Menometrorrhagia ORPHA:99927
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Vaginal fistula, Unilateral microphthalmos OMIM:619318
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Cerebral atrophy, Hyperactivity, Microcephaly, Agenesis of corpus callosum OMIM:274270
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Difficulty walking, Bradykinesia, Cerebral cortical hemiatrophy, Dilation of lateral ve... ORPHA:306669
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Aplasia of the uterus, Anteriorly displaced urethral meatus OMIM:266810
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of th... ORPHA:2470
Hsd10 Disease
Abnormal social behavior, Ventriculomegaly, Gait disturbance, Ataxia, Frontotemporal cerebral atr... ORPHA:391417
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Cerebral atrophy, Ataxia, Hyperactivity OMIM:615924
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Hypoplasia of the corpus callosum, Spastic gait, Colpocephaly ORPHA:401815
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Cofs Syndrome
Hypogonadism, Microphthalmia ORPHA:1466
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Hydrocephalus,... ORPHA:2185
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Glycine Encephalopathy
Lethargy, Agenesis of corpus callosum, Hyperactivity OMIM:605899
Nanophthalmos
Microphthalmia ORPHA:35612
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Perrault Syndrome 4
Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus, Primary ameno... OMIM:615300
Mental Retardation, Autosomal Dominant 43
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Hyperactivity OMIM:616977
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Estrogen Resistance
Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea OMIM:615363
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Microphthalmia OMIM:612530
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Amenorrhea, ... ORPHA:3130
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary a... ORPHA:3085
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Hypoplasia of the corpus callosum, Gait ataxia, Abnormal lateral ventricle morpho... ORPHA:488635
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Warburg Micro Syndrome 1
Cryptorchidism, Microphthalmia, External genital hypoplasia OMIM:600118
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Dilated third ventricle, Diffuse cerebral atrophy, Scissor gait, Dilation of latera... ORPHA:363654
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Polymicr... ORPHA:88616
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary, Optic nerve hypoplasia, Microphthalmia, Anophthalmia... OMIM:610125
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Polycystic ovaries, Abnormal circulating hormone c... ORPHA:280356
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dysplasia, Hyperactivity, Microceph... ORPHA:457260
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Enlarged ... ORPHA:90301
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Abnormal social behavior, Ventriculome... ORPHA:255
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79084
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe... ORPHA:247768
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly, Ce... ORPHA:500180
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Pierpont Syndrome
Cryptorchidism, Micropenis, Microphthalmia OMIM:602342
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Bresek Syndrome
Cryptorchidism, Decreased testicular size, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Congenital Fibrinogen Deficiency
Decreased testicular size, Hemorrhagic ovarian cyst, Micropenis, Microphthalmia ORPHA:335
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos, Amenorrhea OMIM:237100
Hydrolethalus
Cryptorchidism, Abnormal fallopian tube morphology, Microphthalmia, Anophthalmia ORPHA:2189
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Mental Retardation, Autosomal Recessive 39
Microcephaly, Hyperactivity OMIM:615541
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Decreased fertility, ... ORPHA:243
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Lumbar Syndrome
Cryptorchidism, Bifid uterus, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Hypos... ORPHA:83628
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hypospadias ORPHA:77298
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Xq25 Microduplication Syndrome
Hypoplasia of the corpus callosum, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hypoplasia of the corpus callosum, Hyperactivity OMIM:300979
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Hypogonadism, Scrotal hypoplasia, Microphthalmia ORPHA:228390
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Microcephaly, Hyperactivity OMIM:300434
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Microphthalmia, Abnormality of the hypothalamus-pituitary axis, Anophthalmia ORPHA:139471
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Dystonia, ... ORPHA:79243
Optic Atrophy 11
Ataxia, Dysmetria, Leukoencephalopathy, Hyperactivity, Microcephaly OMIM:617302
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Warburg Micro Syndrome 2
Cryptorchidism, Scrotal hypoplasia, Hypoplastic labia majora, Microphthalmia, Micropenis OMIM:614225
Cerebrooculofacioskeletal Syndrome 2
Scrotal hypoplasia, Micropenis, Microphthalmia OMIM:610756
Trisomy 13
Abnormal morphology of female internal genitalia, Cryptorchidism, Aplasia/Hypoplasia of the iris,... ORPHA:3378
Chromosome 3Q29 Deletion Syndrome
Microcephaly, Gait ataxia, Hyperactivity OMIM:609425
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Increased circulating androstenedione concentration, Long penis, Premature p... ORPHA:90795
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Poor eye contact, Hypoplasia of the corpus callosum, Abnormal cerebral w... ORPHA:565624
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Microcephaly, Dystonia, Ataxia, Hyperactivity OMIM:612716
Multiple Benign Circumferential Skin Creases On Limbs
Cryptorchidism, Abnormality of the scrotum, Scrotal hypoplasia, Microphthalmia, Hypospadias ORPHA:2505
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Seckel Syndrome 2
Hypospadias, Microphthalmia OMIM:606744
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Precocious puberty, Microphthalmia, Anophthalmia OMIM:615877
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia OMIM:618652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos, Male pseudohermaphroditism OMIM:600122
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Ataxia, Cortical dysplasia, Focal cortical dysplasia, Hyperactivity OMIM:610042
Alazami-Yuan Syndrome
Microcephaly, Hyperactivity OMIM:617126
Warburg Micro Syndrome 4
Cryptorchidism, Scrotal hypoplasia, Microphthalmia, Decreased testicular size, Micropenis OMIM:615663
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Ataxia-Telangiectasia
Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Delayed puberty... ORPHA:100
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian neoplasm OMIM:617883
Phenylketonuria
Microcephaly, Cerebral calcification, Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Warburg Micro Syndrome 3
Scrotal hypoplasia, Hypoplastic labia minora, Microphthalmia, Decreased testicular size, Micropenis OMIM:614222
Ck Syndrome
Pachygyria, Polymicrogyria, Hyperactivity, Microcephaly, Abnormal cerebral cortex morphology ORPHA:251383
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Microphthalmia, Syndromic 3
Cryptorchidism, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Microphthalmia, Anophthalm... OMIM:206900
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed social development, Dystonia, Type II lissencephaly, Torticollis, Spastic ataxia, Hypopla... ORPHA:300570
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Ventriculomegaly, Subcortical cerebral atrophy, Abnormality of t... ORPHA:1929
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder, Ab... ORPHA:444002
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia ORPHA:2788
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:178469
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Mental Retardation, Autosomal Recessive 61
Hypoplasia of the corpus callosum, Secondary microcephaly, Hyperactivity OMIM:617773
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, C... ORPHA:485350
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Secondary amenorrhea, Insulin-resistant diabetes mellitus, Polycy... OMIM:268020
Mental Retardation, Autosomal Recessive 13
Hypoplasia of the corpus callosum, Secondary microcephaly, Hyperactivity OMIM:613192
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Scrotal hypoplasia, Microphthalmia ORPHA:2728
Intellectual Developmental Disorder, X-Linked 98
Poor eye contact, Secondary microcephaly, Ataxia, Hyperactivity, Microcephaly OMIM:300912
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Microcephaly, Hyperactivity OMIM:618342
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Corpus callosum atrophy, Ataxia, Cerebral ... ORPHA:228360
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Scrotal hypoplasia, Microphthalmia, Hypospadias OMIM:616734
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Hyperactivity OMIM:300558
Preeclampsia
Type I diabetes mellitus, Polycystic ovaries ORPHA:275555
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... ORPHA:208447
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis ORPHA:2328
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Primary amenorrhea, Septate vagina, Uterus didelphys, Hypoparathyroidism, Aplasia of the uterus, ... OMIM:146255
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasia of the f... OMIM:241080
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Ventriculomegaly, Hyperactivity, Microcephaly, Broad-based gait OMIM:300958
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Moebius Syndrome
Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis, Microphthalmia OMIM:157900
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Myoclonic-Astatic Epilepsy
Impaired social interactions, Ataxia, Unsteady gait, Lack of peer relationships, Hyperactivity, M... ORPHA:1942
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity ORPHA:101039
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Microcephaly, Agenesis of corpus callosum, Decreased response to growth hormone st... OMIM:615286
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Lamb-Shaffer Syndrome
Abnormal social behavior, Microcephaly, Ataxia, Hyperactivity ORPHA:530983
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Cessation of head growth, Ataxia, Hyperactivity ORPHA:411515
Baraitser-Winter Syndrome 1
Cryptorchidism, Micropenis, Microphthalmia OMIM:243310
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Micro Syndrome
Cryptorchidism, Clitoral hypoplasia, Hypoplastic labia minora, Delayed puberty, Microphthalmia, H... ORPHA:2510
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Hyperactivity,... ORPHA:369939
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Ck Syndrome
Microcephaly, Polymicrogyria, Pachygyria, Hyperactivity OMIM:300831
Fragile X Syndrome
Poor eye contact, Hyperactivity OMIM:300624
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensit... ORPHA:488627
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, External genital hypoplasia, Microphthalmia, Anophthalmia, Hypogonadism, Hypoplas... ORPHA:2250
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Kapur-Toriello Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Microphthalmia OMIM:244300
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Microphthalmia, Hypospadias, ... OMIM:309801
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cerebral white matter ... OMIM:300354
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Microphthalmia OMIM:619135
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Progressive microcephaly, Broad-based gait, Hyperactivity OMIM:617865
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Vaginal atresia, Decreased testicular s... OMIM:209900
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Primary amenorrhea, Polycystic ovaries, Insu... OMIM:604367
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Hypoplastic labia ma... OMIM:119500
Cat-Eye Syndrome
Microphthalmia ORPHA:195
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Optic nerve hypoplasia, Unilateral microph... ORPHA:137902
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Microphthalmia, Hypospadias ORPHA:494344
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Gait ataxia, Hypoplastic hippocampus, Hypoplasia of the corpus callosum, Micro... OMIM:618606
Hypomagnesemia, Seizures, And Mental Retardation 2
Ventriculomegaly, Hyperactivity OMIM:618314
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Dilati... OMIM:617751
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Cryptorchidism, Absent external genitalia, Persistent cloaca, Aplasia of the ut... ORPHA:94095
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Microcephaly, Hyperactivity OMIM:618718
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Martsolf Syndrome 1
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Microphthalmia OMIM:212720
Rubinstein-Taybi Syndrome 2
Microcephaly, Hyperactivity OMIM:613684
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Cerebral atrophy, Ataxia, Limb dystonia, Hyperactivity, Caudate atrophy ORPHA:363400
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Dilation of lateral ventricles OMIM:618736
Pseudotrisomy 13 Syndrome
Cryptorchidism, Adrenal hypoplasia, Bicornuate uterus, Microphthalmia, Micropenis OMIM:264480
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Enlarged polycy... ORPHA:64739
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435651
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Marden-Walker Syndrome
Cryptorchidism, Micropenis, Microphthalmia, Hypospadias OMIM:248700
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Colpocephaly, Lissencephaly OMIM:615219
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Bosma Arhinia Microphthalmia Syndrome
Cryptorchidism, Primary amenorrhea, Hypoplastic labia majora, Microphthalmia, Hypogonadotropic hy... OMIM:603457
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Cryptorchidism, Microphthalmia OMIM:613001
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Polycystic ovaries, Precocious puberty in females, ... ORPHA:528
Donohue Syndrome
Ovarian cyst, Long penis, Hyperinsulinemia, Clitoral hypertrophy, Precocious puberty, Pancreatic ... OMIM:246200
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Septate vagina, Vaginal atresia, Parathyroid hypoplasia, Uterus didelphys, Diabetes mellitus, Hyp... ORPHA:2237
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435660
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Congenital Rubella Syndrome
Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615109
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
Gracile Bone Dysplasia
Aniridia, Micropenis, Microphthalmia OMIM:602361
Acromesomelic Dysplasia, Demirhan Type
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:609441
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Hyperactivity OMIM:300960
Vacterl With Hydrocephalus
Cryptorchidism, Abnormal fallopian tube morphology, Microphthalmia, Anophthalmia ORPHA:3412
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Difficulty walking, Ventriculomegaly, Cerebral ... ORPHA:572798
Mosaic Trisomy 9
Cryptorchidism, Abnormality of the uterus, Hypoplastic female external genitalia, Microphthalmia,... ORPHA:99776
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Thyroid adenoma, Hyperthyroi... OMIM:615108
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
47,Xyy Syndrome
Impaired social interactions, Increased circulating gonadotropin level, Hyperactivity, Hydrocepha... ORPHA:8
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Cerebral atrophy, Dysmetria, Microcephaly, ... ORPHA:135
Walker-Warburg Syndrome
Cryptorchidism, Microphthalmia, Hypoplasia of penis, Anophthalmia ORPHA:899
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Temtamy Syndrome
Microphthalmia ORPHA:1777
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Primary microcephaly, Simpli... ORPHA:284417
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Ataxia, Neurofibrillary tangles, Cerebral cortical atrophy ORPHA:1020
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru... ORPHA:465508
Fanconi Anemia, Complementation Group L
Micropenis, Microphthalmia OMIM:614083
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology OMIM:615280
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Slc35A2-Cdg
Inability to walk, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cer... ORPHA:356961
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Tetraamelia Syndrome 1
Urethral atresia, Hypoplasia of the fallopian tube, Absent external genitalia, Vaginal atresia, M... OMIM:273395
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles OMIM:600721
Oeis Complex
Cryptorchidism, Bifid uterus, Ambiguous genitalia, male, Ambiguous genitalia, female, Rectovagina... OMIM:258040
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Micropenis, Aplasia of the uterus OMIM:618280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Poor eye contact, Cerebral atrophy, Hyperactivity, Microcephaly OMIM:103050
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Microphthalmia OMIM:610651
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Solitary Median Maxillary Central Incisor
Anterior hypopituitarism, Decreased response to growth hormone stimuation test, Microphthalmia, A... OMIM:147250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Hypothyroidism, Ovarian carcinoma, Thyroid a... OMIM:158350
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Episodic ataxia, Dilation of lateral ventricles ORPHA:420179
Joubert Syndrome 22
Microphthalmia OMIM:615665
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Bifid scrotum, Penoscrotal transposition, Microphthalmia, Hypospadias OMIM:619148
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bilateral microphthalmos, Bicornuate uterus, Anophthalmia OMIM:601186
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Microphthalmia, Hypoplasia of penis ORPHA:284160
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility, Microphthalmia OMIM:227650
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Microphthalmia ORPHA:404440
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Microphthalmia OMIM:604229
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Type II diabetes mellitus ORPHA:3191
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Cerebral cortical atrophy, Hyperactivity, Microcephaly OMIM:614104
Potocki-Lupski Syndrome
Poor eye contact, Hypoplasia of the corpus callosum, Microcephaly, Hyperactivity OMIM:610883
Norrie Disease
Hypoplasia of the iris, Microphthalmia OMIM:310600
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Fanconi Anemia, Complementation Group F
Cryptorchidism, Microphallus, Microphthalmia, Decreased response to growth hormone stimuation test OMIM:603467
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplas... ORPHA:2822
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Poor eye contact, Hyperactivity, Attention deficit hyperac... ORPHA:449291
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Cryptorchidism, Microphthalmia OMIM:600901
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Cerebral atrophy, Lewy bodies... OMIM:610217
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Ambiguous genitalia, Microphallus, Absent penis, Abnormal scrotal rugation, Clito... ORPHA:284339
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Fryns Syndrome
Cryptorchidism, Bicornuate uterus, Microphthalmia, Hypospadias ORPHA:2059
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Infantile Neuroaxonal Dystrophy
Dystonia, Abnormal cerebral white matter morphology, Gait disturbance, Ataxia, Iron accumulation ... ORPHA:35069
Jacobsen Syndrome
Cryptorchidism, Macular hypoplasia, Clitoral hypoplasia, Microphthalmia, Hypospadias, Labial hypo... OMIM:147791
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Microcephaly, Hyper... ORPHA:391307
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Monosomy 18P
Hypothyroidism, Microphthalmia ORPHA:1598
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Ambiguous genitalia, Adrenal hypoplasia, Microphthalmia, Thyroid hypoplasia, Hypo... ORPHA:2166
X-Linked Creatine Transporter Deficiency
Dystonia, Ataxia, Hyperactivity, Microcephaly, Athetosis ORPHA:52503
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Hyperactivity ORPHA:85327
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Ab... ORPHA:309256
Cousin Syndrome
Ambiguous genitalia, male, Ambiguous genitalia, female, Microphthalmia OMIM:260660
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Ventriculomegaly, Megalencephaly, Gait disturbance, Abnormal corpus callosum morphology, Polymicr... ORPHA:457485
Meckel Syndrome, Type 2
Bile duct proliferation, Microphthalmia OMIM:603194
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of th... ORPHA:2334
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Meckel Syndrome
Urethral atresia, Cryptorchidism, Ambiguous genitalia, Pancreatic cysts, Aplasia/Hypoplasia of th... ORPHA:564
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:1359
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Glutamine Deficiency, Congenital
Subependymal cysts, Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:610015
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Fanconi Anemia, Complementation Group I
Hypothyroidism, Optic nerve hypoplasia, Microphthalmia, Decreased response to growth hormone stim... OMIM:609053
Joubert Syndrome 2
Hypoplastic male external genitalia, Microphthalmia OMIM:608091
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Hyperactivity OMIM:619239
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Endometrial carcinoma, Pancreatic adenocarcinoma ORPHA:454840
Peutz-Jeghers Syndrome
Precocious puberty with Sertoli cell tumor, Neoplasm of the pancreas, Ovarian cyst, Uterine neoplasm OMIM:175200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Adrenal hypoplasia, Decreased circulating cortisol level, Thy... OMIM:146510
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Ambiguous genitalia, Microphthalmia OMIM:616300
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Microcephaly, Dilation of lateral ventricles, Dandy-Walker malformation ORPHA:3078
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Corpus callosum atrophy, Gait disturbance, Cerebral atrophy, Ataxia, Periventr... ORPHA:168491