Gene: Six6 MGI:1341840

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

sine oculis-related homeobox 6

Synonyms:

Six9, Optx2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Six6 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 Six6 (2 diseases)
Human diseases predicted to be associated with Six6 (535 diseases)

The table below shows human diseases associated to Six6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Nanophthalmos		Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia	ORPHA:35612
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy		Chorioretinal coloboma, Macular atrophy, Retinal detachment, Microphthalmia, Retinal dystrophy	OMIM:212550

The table below shows human diseases predicted to be associated to Six6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Septooptic Dysplasia	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Anterior pituitary ...	OMIM:182230
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro...	OMIM:616030
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia	ORPHA:397685
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Reticular pigmentary degeneration, Drusen, Retinal dystrophy	OMIM:267800
Foveal Hypoplasia 1	Hypoplasia of the fovea	OMIM:136520
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor...	ORPHA:97341
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De...	OMIM:614839
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular degeneration, Macular scar, Drusen	OMIM:615439
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre...	OMIM:619613
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries	ORPHA:1643
Microphthalmia/Coloboma 12	Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula...	OMIM:120200
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
Isolated Growth Hormone Deficiency, Type Iv	Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor...	OMIM:618157
Ovarian Dysgenesis 10	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas...	OMIM:619834
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo...	OMIM:614842
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,...	ORPHA:280356
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec...	OMIM:620651
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop...	ORPHA:231720
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty...	ORPHA:453533
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Premature Ovarian Failure 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated...	OMIM:615723
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir...	OMIM:615724
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Leber Congenital Amaurosis 19	Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration	OMIM:618513
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Endometriosis, Susceptibility To, 1	Decreased fertility, Endometriosis, Dysmenorrhea	OMIM:131200
Macular Degeneration, Early-Onset	Choroidal neovascularization, Macular degeneration	OMIM:616118
Oculocutaneous Albinism Type 6	Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morphology on macul...	ORPHA:370097
Premature Ovarian Failure 21	Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll...	OMIM:620311
Pituitary Hormone Deficiency, Combined, 3	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita...	OMIM:221750
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn...	ORPHA:168563
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea	OMIM:184700
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon...	OMIM:614840
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti...	ORPHA:3085
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Isolated Growth Hormone Deficiency, Type Ii	Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor...	OMIM:173100
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy	OMIM:620086
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating...	OMIM:619761
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Microphthalmia, Isolated 8	Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ...	OMIM:615113
Aromatase Deficiency	Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:613546
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
Perrault Syndrome 4	Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased...	OMIM:615300
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Albinism, Oculocutaneous, Type Iv	Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Albinism, Oculocutaneous, Type V	Hypoplasia of the fovea	OMIM:615312
Estrogen Resistance	Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul...	OMIM:615363
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia	ORPHA:2795
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr...	ORPHA:79085
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
46,Xx Gonadal Dysgenesis	Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De...	ORPHA:243
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Hyperprolactinemia	Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia	OMIM:615555
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Retinitis Pigmentosa 50	Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt...	OMIM:613194
Hepatic Adenomas, Familial	Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Insulin-resistant diabetes mellitus, Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycy...	OMIM:268020
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog...	ORPHA:435660
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Pituitary hypothyroidism, Anterior pituitary hypoplasia, Retinal dystrophy	OMIM:619983
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:607080
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy	OMIM:609021
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea...	ORPHA:90796
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Frasier Syndrome	Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G...	ORPHA:347
Retinal Cone Dystrophy 1	Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy	OMIM:180020
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Azoospe...	ORPHA:432
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level	OMIM:619009
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Chorioretinal Atrophy, Progressive Bifocal	Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy	OMIM:600790
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Lipodystrophy, Familial Partial, Type 3	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar...	OMIM:604367
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Irregular menstruation, Precocious puberty, Clitoral hypertrophy, Long penis, Premature adrenarch...	ORPHA:90795
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr...	ORPHA:435651
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem...	ORPHA:179
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Septo-Optic Dysplasia Spectrum	Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Septo-optic...	ORPHA:3157
Macular Degeneration, Age-Related, 1	Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ...	OMIM:603075
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia	OMIM:618160
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Achromatopsia	Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo...	ORPHA:49382
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog...	ORPHA:3130
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypothalamic ha...	OMIM:206900
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O...	ORPHA:314478
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Foveal Hypoplasia 2	Hypoplasia of the fovea, Foveal hyperpigmentation, Optic nerve misrouting, Microphthalmia	OMIM:609218
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment	OMIM:613310
Gordon Holmes Syndrome	Absence of pubertal development, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhe...	OMIM:212840
Aland Island Eye Disease	Hypoplasia of the fovea, Hypopigmentation of the fundus	OMIM:300600
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Exudative retinal detachment	OMIM:614224
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hyperinsul...	ORPHA:528
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Irvan Syndrome	Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ...	ORPHA:209943
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Optic nerve hyp...	ORPHA:65288
Congenital Factor Vii Deficiency	Ovarian cyst, Menorrhagia	ORPHA:327
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Aniridia-Intellectual Disability Syndrome	Aniridia, Optic nerve hypoplasia	ORPHA:1068
Rudiger Syndrome	Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic...	OMIM:146110
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Luscan-Lumish Syndrome	Irregular menstruation, Excessive shyness, Polycystic ovaries	OMIM:616831
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Abnormal optic nerve morphology, Macular dystrophy, Aplasia/Hypoplasia of the macula	ORPHA:33445
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Retinal Dystrophy And Obesity	Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re...	OMIM:616188
Premature Ovarian Failure 1	Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level	OMIM:311360
Ane Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula...	ORPHA:157954
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Cryptorchidism, Anophthalmia, Adrenal hypoplasia, Anterior pituitary hypopla...	ORPHA:264200
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Aplasi...	OMIM:277000
46,Xy Sex Reversal 1	Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona...	OMIM:400044
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Oculocutaneous Albinism, Type Viii	Chorioretinal hypopigmentation, Hypoplasia of the fovea	OMIM:619165
Pituitary Carcinoma	Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol...	ORPHA:300385
Retinitis Pigmentosa 38	Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy	OMIM:613862
Åland Islands Eye Disease	Hypoplasia of the fovea, Hypopigmentation of the fundus	ORPHA:178333
46,Xy Sex Reversal 7	Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon...	OMIM:233420
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed...	ORPHA:52901
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233300
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased serum insulin-like growth f...	ORPHA:67045
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea	OMIM:113750
Ovarian Dysgenesis 7	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:618117
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating free T3, Decr...	OMIM:613038
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia	ORPHA:35612
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre...	ORPHA:95494
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Culler-Jones Syndrome	Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy...	OMIM:615849
Ziegler-Huang Syndrome	Hypogonadism, Elevated circulating follicle stimulating hormone level, Cryptorchidism, Anterior p...	OMIM:620501
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone...	OMIM:617442
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Polycystic ovaries, Dysmenorrhea, Oligomenorrhea, Maternal d...	ORPHA:79083
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta...	ORPHA:785
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased response to growth hormone stimulation te...	ORPHA:226307
Meningioma	Secondary growth hormone deficiency, Decreased serum estradiol, Hypothalamic hypothyroidism, Pitu...	ORPHA:2495
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries	ORPHA:79084
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate...	OMIM:614324
Premature Ovarian Failure 15	Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ...	OMIM:618096
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Cataract 21, Multiple Types	Macular hypoplasia, Retinal detachment	OMIM:610202
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl...	OMIM:613986
Bardet-Biedl Syndrome 21	Retinal thinning, Hyperautofluorescent macular lesion, Cone/cone-rod dystrophy, Hypoplasia of the...	OMIM:617406
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Polycystic ovaries	OMIM:608709
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se...	ORPHA:2232
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy, Microphthalmia, R...	OMIM:253280
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto...	OMIM:194072
Joubert Syndrome 40	Optic nerve hypoplasia	OMIM:619582
Isolated Aniridia	Aniridia, Aplasia/Hypoplasia of the macula	ORPHA:250923
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Primary amenorrhea, Micropenis, Decreased serum leptin	OMIM:614962
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm...	OMIM:619755
Invasive Mole	Menometrorrhagia	ORPHA:99925
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Uterus didelphys, Hydrocolpos, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m...	ORPHA:3411
Premature Ovarian Failure 22	Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in...	OMIM:620548
Ovarian Dysgenesis 6	Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Coats Disease	Abnormal retinal vascular morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma...	ORPHA:190
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Hypogonadotropic hypogonadism, Decreased circulating gona...	OMIM:215470
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit...	ORPHA:2410
Familial Partial Lipodystrophy, Dunnigan Type	Polycystic ovaries, Diabetes mellitus, Secondary amenorrhea, Dysmenorrhea	ORPHA:2348
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea	OMIM:614858
Post-Traumatic Pituitary Deficiency	Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased testicular s...	ORPHA:95619
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:617690
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Mccune-Albright Syndrome	Irregular menstruation, Precocious puberty, Increased circulating cortisol level, Increased circu...	ORPHA:562
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary...	ORPHA:247768
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema...	ORPHA:755
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc...	ORPHA:206484
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous	OMIM:193230
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Abnormal fundus morphology, Ocular albinism	ORPHA:370091
Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:300068
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas...	ORPHA:91350
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Hypogonadotropic hyp...	OMIM:616113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Retinal detachment, Microphthalmia	OMIM:615181
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenocorticotropic hormon...	OMIM:615926
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Retinal dystrophy, Opt...	OMIM:610125
Cataract 50 With Or Without Glaucoma	Retinal detachment	OMIM:620253
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Type II diabetes mellitus, Polycystic ovaries, Delayed puberty,...	ORPHA:100
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg...	OMIM:614292
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Optic disc pallor, Hypoplasia of the iris	OMIM:614195
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Cortisone Reductase Deficiency 1	Precocious puberty, Infertility, Oligomenorrhea	OMIM:604931
Premature Ovarian Failure 11	Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level	OMIM:616946
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant...	ORPHA:90301
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia	ORPHA:250972
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
Placental Site Trophoblastic Tumor	Amenorrhea, Metrorrhagia	ORPHA:99928
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
X-Linked Acrogigantism	Abnormal optic chiasm morphology, Pituitary adenoma, Increased circulating prolactin concentratio...	ORPHA:300373
Distal Deletion 10P	Hypoplasia of penis, Cryptorchidism, Polycystic ovaries	ORPHA:1580
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo...	ORPHA:90695
Aromatase Deficiency	Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ...	ORPHA:91
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am...	OMIM:612702
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogonadotropic hypo...	OMIM:610628
Albinism, Ocular, Type I	Hypoplasia of the fovea, Depigmented fundus, Ocular albinism	OMIM:300500
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ...	OMIM:618697
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia, Microphthalmia	OMIM:614830
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Elevated circulating creatine kinase concentration, Polycystic ovaries, D...	ORPHA:79240
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Polyembryoma	Irregular menstruation, Increased serum serotonin, Abnormality of the endocrine system, Abnormal ...	ORPHA:180229
Chromosome 14Q11-Q22 Deletion Syndrome	Optic atrophy, Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorc...	OMIM:613457
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Premature Ovarian Failure 2A	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula...	OMIM:300511
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h...	ORPHA:91354
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Polycystic ovaries, Dysmenorrhea, Elevated circulating creatine kinase co...	ORPHA:264580
Panhypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95513
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h...	OMIM:202150
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased response ...	ORPHA:3464
Craniotelencephalic Dysplasia	Optic atrophy, Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Congenital Hydrocephalus	Macular hypoplasia, Optic atrophy	ORPHA:2185
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Azoospermia, Hypogonadotropic hypogonadism, Amenorr...	OMIM:602390
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci...	OMIM:610475
Ovarian Dysgenesis 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplastic labia majo...	OMIM:618187
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Unilateral cryptorchidism, Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia	ORPHA:137634
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:98754
Adenohypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95512
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi...	ORPHA:91349
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis	OMIM:614880
Pituitary Adenoma 1, Multiple Types	Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin...	OMIM:102200
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:98793
Acromelic Frontonasal Dysplasia	Hypopituitarism, Cryptorchidism, Anterior pituitary hypoplasia	ORPHA:1827
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:177901
Retinal Dystrophy With Or Without Extraocular Anomalies	Premature ovarian insufficiency, Secondary amenorrhea, Goiter	OMIM:617175
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia	ORPHA:163937
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De...	ORPHA:95699
Cognitive Impairment With Or Without Cerebellar Ataxia	Optic nerve hypoplasia	OMIM:614306
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Delayed puberty	OMIM:612079
Premature Ovarian Failure 20	Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate...	OMIM:619938
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Premature Ovarian Failure 14	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:618014
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone...	ORPHA:64739
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia	OMIM:618890
Donohue Syndrome	Precocious puberty, Clitoral hypertrophy, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic ...	OMIM:246200
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Impotence, Increased circulating ferritin concentration, Amenorrhea	OMIM:604250
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Polycystic ovaries, Dysmenorrhea, Diabetes mellitus, Secondary ameno...	ORPHA:280365
Pseudohermaphroditism, Female, With Skeletal Anomalies	Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea	OMIM:264270
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a...	ORPHA:3109
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Cryptorchidism, Hypothyroidism, Delayed puberty, Adrenal hypoplasia,...	ORPHA:95496
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Cowden Syndrome 6	Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes...	OMIM:615109
Cowden Syndrome 5	Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid...	OMIM:615108
Holoprosencephaly 9	Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit...	OMIM:610829
Frasier Syndrome	Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis, Primary amenorrhea	OMIM:136680
Prolactinoma	Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon...	ORPHA:2965
Trichothiodystrophy 5, Nonphotosensitive	Panhypopituitarism, Decreased testicular size, Retinal dystrophy, Optic nerve hypoplasia	OMIM:300953
Gray Platelet Syndrome	Abnormality of the menstrual cycle	ORPHA:721
5Q14.3 Microdeletion Syndrome	Optic nerve hypoplasia	ORPHA:228384
Craniopharyngioma	Optic atrophy, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Cent...	ORPHA:54595
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Optic nerve hypoplasia	OMIM:620502
Achromatopsia 2	Retinal thinning, Dull foveal reflex, Peripapillary atrophy, Hypoplasia of the fovea, Absent fove...	OMIM:216900
Familial Adenomatous Polyposis 4	Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma	OMIM:617100
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Preeclampsia	Type I diabetes mellitus, Polycystic ovaries	ORPHA:275555
Isolated Exencephaly	Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia	ORPHA:563612
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Cryptorchidism, Peripheral axonal neuropathy, Delayed puberty, Optic nerve hypoplasia	ORPHA:496790
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Optic disc pallor, Cryptorchidism, Anterior pituitary hypoplasia	ORPHA:464306
Cowden Syndrome 1	Varicocele, Thyroid adenoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypothyroidism, Hyperthyroi...	OMIM:158350
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog...	OMIM:202110
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype...	ORPHA:91351
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis	ORPHA:335
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d...	OMIM:616468
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland	OMIM:617395
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Chorioretinal hypopigmentation, ...	ORPHA:398079
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Decreased thalamic volume, Retinal detachment, Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Pituitary Gigantism	Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth...	ORPHA:99725
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Decreased fertility, Type II diabetes...	OMIM:269700
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of the fundus	OMIM:203200
Cog2-Cdg	Small pituitary gland	ORPHA:435934
Hydranencephaly	Atrophic pituitary gland, Dysgenesis of the thalamus, Thalamic edema, Chorioretinal atrophy, Opti...	ORPHA:2177
Bresek Syndrome	Decreased testicular size, Cryptorchidism, Aganglionic megacolon, Microphthalmia, Optic nerve hyp...	ORPHA:85284
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia	OMIM:620157
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Prader-Willi Syndrome	Precocious puberty, Small scrotum, Small pituitary gland, Premature adrenarche, Decreased circula...	ORPHA:739
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Hypogonadotropic hypogonadism, Decreased circulati...	OMIM:600955
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce...	OMIM:158330
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Optic nerve misrouting, Ocular albi...	ORPHA:79435
Deeah Syndrome	Decreased response to growth hormone stimulation test, Panhypopituitarism, Cryptorchidism, Decrea...	OMIM:619004
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Anterior pi...	ORPHA:177907
Hyperlysinemia, Type I	Optic nerve hypoplasia	OMIM:238700
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries	ORPHA:1770
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Microcephaly, Amish Type	Hypoplasia of the fovea, Optic atrophy	OMIM:607196
Phace Association	Optic atrophy, Congenital hypothyroidism, Lingual thyroid, Increased retinal vascularity, Horner ...	OMIM:606519
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Polycystic ovaries, Decreased fertili...	OMIM:608594
Optic Atrophy-Intellectual Disability Syndrome	Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:401777
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia	OMIM:618736
Familial Benign Copper Deficiency	Aplasia/Hypoplasia of the fovea	ORPHA:1551
Cerebral Visual Impairment	Optic atrophy, Retinopathy of prematurity, Optic disc pallor, Increased cup-to-disc ratio, Optic ...	ORPHA:447788
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, ...	ORPHA:2298
Hypoplasminogenemia	Abnormality of the ovary, Decreased level of plasminogen, Abnormal fallopian tube morphology, Cer...	ORPHA:722
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Optic Atrophy 11	Optic atrophy, Cherry red spot of the macula, Facial diplegia, Decreased sensory nerve conduction...	OMIM:617302
Fg Syndrome Type 1	Small pituitary gland, Cryptorchidism, Optic nerve hypoplasia	ORPHA:93932
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Aniridia 1	Chorioretinal hypopigmentation, Retinal vascular tortuosity, Hypoplasia of the iris, Aniridia, Hy...	OMIM:106210
Short Syndrome	Ovarian cyst, Insulin-resistant diabetes mellitus	OMIM:269880
Lipodystrophy, Familial Partial, Type 5	Irregular menstruation, Decreased adiponectin level, Increased C-peptide level, Decreased serum l...	OMIM:615238
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Cystic Echinococcosis	Renal cyst, Abnormality of the testis size, Hepatic cysts, Ovarian cyst	ORPHA:400
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Nodular goiter, Type I diabetes mellitus, Premature thelarche, Polycystic ovaries	ORPHA:371428
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, Abnormal morphology of the choroidal vasculature, Depigmented fundus, Op...	ORPHA:352731
Interstitial Cystitis	Abnormal vagina morphology, Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspar...	ORPHA:37202
Cardiofaciocutaneous Syndrome 4	Decreased response to growth hormone stimulation test, Optic nerve hypoplasia	OMIM:615280
Magel2-Related Prader-Willi-Like Syndrome	Precocious puberty, Small pituitary gland, Chorioretinal hypopigmentation, Central hypothyroidism...	ORPHA:398069
Leopard Syndrome 1	Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,...	OMIM:151100
Fibrous Dysplasia Of Bone	Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c...	ORPHA:249
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries	ORPHA:2969
Sheehan Syndrome	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:91355
Coats Disease	Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
Congenital Primary Aphakia	Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Reti...	ORPHA:83461
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I...	OMIM:615962
Linear Verrucous Nevus Syndrome	Retinopathy, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Lissencephaly Due To Tuba1A Mutation	Aganglionic megacolon, Optic nerve hypoplasia	ORPHA:171680
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Optic nerve hypoplasia	ORPHA:572013
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal macular morphology, Ocular albinism	ORPHA:54
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Hypothyroidism, Optic nerve hypoplasia, Mi...	OMIM:609053
Nabais Sa-De Vries Syndrome, Type 1	Optic nerve hypoplasia	OMIM:618828
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Transverse vaginal septum, Vagina...	ORPHA:65681
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Cryptorchidism, Anterior pituitary hypoplasia	OMIM:619841
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Optic nerve hypoplasia	OMIM:618381
Craniosynostosis 4	Ectopic posterior pituitary, Optic nerve hypoplasia	OMIM:600775
Joubert Syndrome 38	Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Decreased response to ...	OMIM:619476
Lenz-Majewski Hyperostotic Dwarfism	Cryptorchidism, Anterior pituitary hypoplasia	OMIM:151050
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Chorioretinal coloboma, Macular atrophy, Retinal detachment, Microphthalmia, Retinal dystrophy	OMIM:212550
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Infantile Systemic Hyalinosis	Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries	ORPHA:2176
Peutz-Jeghers Syndrome	Uterine neoplasm, Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor	OMIM:175200
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia...	ORPHA:90794
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Irregular menstruation, Menorrhagia, Polycystic ovaries, Hypothyroidism, Delayed puberty, Thyroid...	ORPHA:79259
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Ocular albinism	OMIM:614073
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst	ORPHA:454840
Bardet-Biedl Syndrome	Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas...	ORPHA:110
Spastic Paraplegia 54, Autosomal Recessive	Optic nerve hypoplasia	OMIM:615033
Long-Olsen-Distelmaier Syndrome	Microspherophakia, Optic nerve hypoplasia	OMIM:620609
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Insulin-resistant diabetes mellitus, Polycystic ovaries	ORPHA:79086
Oculoauricular Syndrome	Chorioretinal coloboma, Retinal coloboma, Chorioretinal atrophy, Cone/cone-rod dystrophy, Macular...	OMIM:612109
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Ovarian cyst	OMIM:618188
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Developmental And Epileptic Encephalopathy 83	Hypoplasia of the fovea	OMIM:618744
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia, Retinal dysplasia, O...	OMIM:614643
Squalene Synthase Deficiency	Optic nerve hypoplasia, Bilateral cryptorchidism	OMIM:618156
Chromosome 3Pter-P25 Deletion Syndrome	Macular hypoplasia, Cryptorchidism	OMIM:613792
Tatton-Brown-Rahman Syndrome	Optic nerve hypoplasia	OMIM:615879
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Abnormal optic nerve morphology	ORPHA:79434
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility...	ORPHA:91347
Rabin-Pappas Syndrome	Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia	OMIM:620155
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,...	ORPHA:91495
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee...	OMIM:618820
Verheij Syndrome	Optic nerve hypoplasia	OMIM:615583
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Optic nerve hypoplasia	ORPHA:363686
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes...	OMIM:151660
Norrie Disease	Optic atrophy, Hypoplasia of the iris, Retinal detachment, Microphthalmia, Retinal fold, Retinal ...	OMIM:310600
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Cervix cancer, Multiple renal cysts	ORPHA:2869
Bardet-Biedl Syndrome 1	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Nephrogenic diabetes insipidus...	OMIM:209900
Autoimmune Polyendocrinopathy Type 3	Thymoma, Type I diabetes mellitus, Graves disease, Anterior pituitary dysgenesis, Autoimmune hypo...	ORPHA:227982
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Breast hypoplasia, Hypoplastic n...	OMIM:181450
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Bilateral cryptorchidism, Supernumerary nipple, Cryptorchidism, Delayed puberty, Anterior pituita...	ORPHA:466791
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Renal cyst, Ap...	OMIM:614527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Cryptorchidism, Retinal atrophy, Retinal detachment, Microphthalmia, Retinal dyspl...	OMIM:236670
Chromosome 2P16.1-P15 Deletion Syndrome	Hypogonadism, Decreased testicular size, Cryptorchidism, Optic nerve hypoplasia	OMIM:612513
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Optic nerve hypoplasia	OMIM:617864
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Optic nerve hypoplasia, Retinal coloboma	OMIM:300749
Pierson Syndrome	Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Rieger anoma...	OMIM:609049
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Cryptorchidism, Optic nerve hypoplasia	OMIM:301056
Hemihyperplasia-Multiple Lipomatosis Syndrome	Ovarian serous cystadenoma, Hydrocele testis	ORPHA:276280
Autoimmune Polyendocrinopathy Type 4	Thymoma, Type I diabetes mellitus, Anterior pituitary dysgenesis, Central diabetes insipidus, Hyp...	ORPHA:227990
Rhizomelic Chondrodysplasia Punctata, Type 2	Optic nerve hypoplasia	OMIM:222765
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Supernumerary nipple, Hypogonadism, Decreased testicular size, Facial palsy, Optic...	ORPHA:261349
D-Glyceric Aciduria	Optic nerve hypoplasia	OMIM:220120
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Macular hypoplasia, Optic atrophy, Chorioretinal coloboma	OMIM:615219
Orofaciodigital Syndrome I	Pancreatic cysts, Polycystic kidney dysplasia, Hepatic cysts, Ovarian cyst	OMIM:311200
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Abnormal optic nerve morphology, Ocular albinism	ORPHA:79431
Charcot-Marie-Tooth Disease Type 1F	Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity...	ORPHA:101085
19P13.13 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia	ORPHA:357001
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Decreased testicular size, Hypoplasia of the ovary	OMIM:619321
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal thalamus morphology, Abnormal autonomic nervous system physiology, Optic nerve hypoplasia	ORPHA:300570
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Ocular albinism	OMIM:619172
Rabson-Mendenhall Syndrome	Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin...	ORPHA:769
Alg9-Cdg	Hypoplastic nipples, Hypoplasia of the ovary, Hepatic cysts, Bicornuate uterus	ORPHA:79328
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Ocular albinism	OMIM:614074
White-Sutton Syndrome	Rod-cone dystrophy, Optic nerve hypoplasia	OMIM:616364
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Optic nerve hypoplasia	ORPHA:261250
Stromme Syndrome	Optic nerve hypoplasia, Retinal vascular tortuosity, Microphthalmia	OMIM:243605
Holoprosencephaly 2	Anterior pituitary agenesis, Chorioretinal coloboma, Adrenal hypoplasia, Remnants of the hyaloid ...	OMIM:157170
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula...	ORPHA:293978
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Optic atrophy, Yellow/white lesions of the retina, Cherry red spot of th...	ORPHA:93400
Histiocytoid Cardiomyopathy	Renal cyst, Polycystic ovaries	ORPHA:137675
Asparagine Synthetase Deficiency	Dilated third ventricle, Optic nerve hypoplasia	OMIM:615574
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:79345
Pancreatic And Cerebellar Agenesis	Optic nerve hypoplasia, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:609069
Phace Syndrome	Retinal vascular malformation, Optic nerve hypoplasia, Hypothyroidism, Microphthalmia, Lens colob...	ORPHA:42775
Biliary, Renal, Neurologic, And Skeletal Syndrome	Diabetes insipidus, Bile duct proliferation, Anterior pituitary hypoplasia	OMIM:619534
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Macular hypopigmentation, Abnormality of retinal pigmentation, Optic ner...	ORPHA:79432
Incontinentia Pigmenti	Optic atrophy, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Hypoplasia of the fovea, ...	OMIM:308300
Rhombencephalosynapsis	Aganglionic megacolon, Fusion of the left and right thalami, Septo-optic dysplasia	ORPHA:59315
Williams Syndrome	Precocious puberty, Cholelithiasis, Type II diabetes mellitus, Cryptorchidism, Overfriendliness, ...	ORPHA:904
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Septo-optic dysplasia, Cryptorchidism, Microphthalmia	ORPHA:3301
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Ovarian cyst, Parathyroid agenesis, Hypoplasia of the thy...	OMIM:188400
Turner Syndrome Due To Structural X Chromosome Anomalies	Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Delaye...	ORPHA:99413
Turner Syndrome	Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Delaye...	ORPHA:881
Mosaic Monosomy X	Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Delaye...	ORPHA:99228
Monosomy X	Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Delaye...	ORPHA:99226
Congenital Fibrosis Of Extraocular Muscles	Hypogonadotropic hypogonadism, Optic nerve hypoplasia	ORPHA:45358
Malakoplakia	Abnormality of the menstrual cycle, Prostate neoplasm, Orchitis	ORPHA:556
Limb-Mammary Syndrome	Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ...	ORPHA:69085
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Optic nerve hypoplasia	OMIM:620029
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Attenuation of retinal blood vessels, Cryptorchidism, Optic disc pallor...	ORPHA:468631
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland	OMIM:619479
Knobloch Syndrome 1	Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Chorioretinal atr...	OMIM:267750
Jacobsen Syndrome	Optic atrophy, Annular pancreas, Chorioretinal coloboma, Cryptorchidism, Macular hypoplasia, Micr...	OMIM:147791
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Retinal coloboma, Abnormal optic disc morphology, Microphthalmia, Facial palsy, Optic nerve hypop...	ORPHA:508498
Cowden Syndrome	Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the uterus, Goiter, Endom...	ORPHA:201
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Ocular albinism	OMIM:203100
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Optic nerve hypoplasia	ORPHA:221139
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Ocular albinism	OMIM:614077
Spondylodysplastic Ehlers-Danlos Syndrome	Optic disc coloboma, Hypogonadism, Cryptorchidism, Agenesis of pineal gland, Optic nerve hypoplasia	ORPHA:536471
Acromelic Frontonasal Dysostosis	Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Chediak-Higashi Syndrome	Macular hypoplasia, Decreased nerve conduction velocity, Ocular albinism	OMIM:214500
Schinzel-Giedion Syndrome	Annular pancreas, Central hypothyroidism, Streak ovary, Renal cyst, Micropenis, Hypospadias	ORPHA:798
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Cryptorchidism, Optic nerve hypoplasia	OMIM:617506
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,...	ORPHA:2255
Alström Syndrome	Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Elevated circulating ...	ORPHA:64

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us