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Gene: Zc3h12b MGI:2442133

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Gene Summary

Name:
zinc finger CCCH-type containing 12B
Synonyms:
LOC245523,  A130028J20Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small uterus Zc3h12bem1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Zc3h12bem1(IMPC)Tcp HOM Early adult 0.00
increased mean corpuscular hemoglobin concentration Zc3h12bem1(IMPC)Tcp HOM Early adult 1.96×10-06
microphthalmia Zc3h12bem1(IMPC)Tcp HOM Early adult 0.00
impaired cued conditioning behavior Zc3h12bem1(IMPC)Tcp HEM Early adult 8.97×10-05
abnormal ovary morphology Zc3h12bem1(IMPC)Tcp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

40 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

5 Images

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Eye Morphology

Images Slit Lamp

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Zc3h12b 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zc3h12b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... ORPHA:846
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... OMIM:619151
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Gombo Syndrome
Microphthalmia OMIM:233270
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism OMIM:615524
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Biemond Syndrome Type 2
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Nanophthalmos 4
Microphthalmia OMIM:615972
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Chol... ORPHA:848
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia OMIM:617914
Congenital Toxoplasmosis
Microphthalmia, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:858
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Anemia OMIM:615085
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abn... ORPHA:2470
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, Splenomegaly, L... OMIM:602450
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Perrault Syndrome 4
Hypoplasia of the uterus, Increased circulating gonadotropin level, Bicornuate uterus, Hypoplasia... OMIM:615300
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Microphthalmia, Micropenis, Decreased testicular size ORPHA:335
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm OMIM:617883
Congenital Rubella Syndrome
Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Microphthalmia, Thrombocytopenia ORPHA:290
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Ovarian Fibrothecoma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplasia of the ... OMIM:601186
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Warburg Micro Syndrome 1
Microphthalmia, External genital hypoplasia, Cryptorchidism OMIM:600118
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Pierpont Syndrome
Microphthalmia, Cryptorchidism ORPHA:487825
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia OMIM:613885
Pierpont Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:602342
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Gracile Bone Dysplasia
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen OMIM:602361
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Microphthalmia, Increased circulating gonadotropin level OMIM:110100
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:48431
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cryptorchidism OMIM:613730
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate... ORPHA:231222
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Braddock-Carey Syndrome 2
Microphthalmia, Thrombocytopenia OMIM:619981
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... ORPHA:785
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Microcytic anemia OMIM:618805
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia... OMIM:610125
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... ORPHA:99429
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Leukemia OMIM:602501
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis, Small scrotum OMIM:610756
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h... OMIM:309801
Trisomy 13
Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypoplasia of the iris... ORPHA:3378
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Fanconi Anemia, Complementation Group R
Microphthalmia, Bone marrow hypocellularity, Anemia OMIM:617244
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... OMIM:609441
Bresek Syndrome
Decreased testicular size, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism ORPHA:85284
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... ORPHA:276
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Isosexual precocious puberty ORPHA:2788
Joubert Syndrome 37
Microphthalmia, Micropenis, Decreased testicular size, Cryptorchidism OMIM:619185
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... OMIM:600901
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Hypop... OMIM:618419
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:77298
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, HbH hemoglobin, Hypospadias, Microcytic anemia ORPHA:98791
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test OMIM:615866
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia OMIM:618652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Lissencephaly 8
Microphthalmia OMIM:617255
Fanconi Anemia, Complementation Group A
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... OMIM:227650
Temtamy Syndrome
Microphthalmia ORPHA:1777
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism ORPHA:228390
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Thrombocytopenia, Cryptorchidism, Leukopen... OMIM:603467
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Reticulocytopenia... OMIM:227645
Beta-Thalassemia Major
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231214
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism OMIM:214150
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Microcytic anemia OMIM:612379
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size OMIM:615663
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis ORPHA:2328
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Microphthalmia, Lymphopenia, Neutropenia OMIM:616395
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:139471
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Warburg Micro Syndrome 3
Small scrotum, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased testicular size OMIM:614222
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia ORPHA:2505
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis OMIM:614225
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Bone marrow hypoce... OMIM:609053
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Baraitser-Winter Syndrome 1
Microphthalmia, Micropenis, Cryptorchidism OMIM:243310
Agammaglobulinemia, X-Linked
Epididymitis, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Prostatit... OMIM:300755
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism ORPHA:3301
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Hypospadias, Cryptorchidism ORPHA:494344
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube... ORPHA:99776
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Microphthalmia ORPHA:2510
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... OMIM:617052
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Annular pancreas,... OMIM:227646
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Aplasia of the uterus, Microphthalmia, Micropenis, Anemia OMIM:614083
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Micropenis... OMIM:241410
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Adrenal gland agenesis, Mi... OMIM:273395
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypoplasia,... OMIM:137920
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Refsum Disease
Microphthalmia, Splenomegaly ORPHA:773
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Micropenis, Cryptorchidism OMIM:244300
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Marden-Walker Syndrome
Microphthalmia, Micropenis, Hypospadias, Cryptorchidism OMIM:248700
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Small scrotum, Cryptorchidism ORPHA:2728
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Clitoral hypertrophy OMIM:616449
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Monosomy 18P
Microphthalmia ORPHA:1598
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Cryptorchidism ORPHA:899
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Abnormal hemoglobin, Cryptorchidism, Male pseudohermaph... ORPHA:847
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Prostate neoplasm, Leukemia ORPHA:99867
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... ORPHA:2250
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Temtamy Syndrome
Microphthalmia OMIM:218340
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Pseudotrisomy 13 Syndrome
Microphthalmia, Micropenis, Bicornuate uterus, Cryptorchidism OMIM:264480
Vacterl With Hydrocephalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:3412
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Supernumerary nipple, Cryptorchidism OMIM:612530
Meckel Syndrome
Accessory spleen, Anophthalmia, True hermaphroditism, Pancreatic fibrosis, Asplenia, Cryptorchidi... ORPHA:564
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Macular hypoplasia, Labial hypoplasia, Micropht... OMIM:147791
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids OMIM:619769
Rodrigues Blindness
Microphthalmia OMIM:268320
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Aplasia/Hypoplasia of the optic nerve, HbH hemoglobin ORPHA:423479
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hypospa... OMIM:206900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Microphthalmia OMIM:619148
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Martsolf Syndrome 1
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:212720
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen... ORPHA:124
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Cryptorchidism OMIM:613001
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Lead Poisoning
Imbalanced hemoglobin synthesis, Oligozoospermia, Abnormal T cell morphology, Abnormal sperm morp... ORPHA:330015
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, S... OMIM:301040
Fryns Syndrome
Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Adams-Oliver Syndrome
Microphthalmia, Thrombocytopenia, Leukopenia ORPHA:974
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Cryptorchidism ORPHA:284160
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism OMIM:610651
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Hypospadias, Abnormal preputium morphology, Cryptorch... ORPHA:84
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Microphthalmia, Lenz Type
Microphthalmia, Hypospadias, Cryptorchidism ORPHA:568
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Cryptorchidism, Microphthalmia, Lym... OMIM:620005
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:614230
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Decreased testicular size OMIM:209900
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia, Anemia OMIM:127000
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Microphthal... OMIM:603457
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Abnormality of the spleen, Perineal fistula, Rectovaginal fistula, Microphthalmia ORPHA:2538
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Cohen Syndrome
Cryptorchidism, Microphthalmia, Neutropenia ORPHA:193
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos OMIM:618874
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Hypogonadism OMIM:601675
Incontinentia Pigmenti
Hypoplasia of the fovea, Eosinophilia, Supernumerary nipple, Leukocytosis, Breast aplasia, Hypopl... OMIM:308300
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Rectovaginal fistul... ORPHA:861
Joubert Syndrome 14
Microphthalmia OMIM:614424
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Stromme Syndrome
Accessory spleen, Microphthalmia, Optic nerve hypoplasia OMIM:243605
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Asplenia, Splenomegaly, Cryptorchidism, Ambiguous ... OMIM:249000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis OMIM:617925
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Polyspl... OMIM:229850
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias ORPHA:65286
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Thyroid hy... ORPHA:2166
Mosaic Trisomy 1
Microphthalmia, Micropenis, Penile hypospadias ORPHA:1692
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Precocious puberty, Cr... OMIM:146510
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Atelis Syndrome 2
Microphthalmia, Thrombocytopenia, Anemia OMIM:620185
Cousin Syndrome
Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Trisomy 18
Microphthalmia, Abnormal morphology of female internal genitalia, Cryptorchidism ORPHA:3380
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter... ORPHA:2237
Joubert Syndrome 2
Microphthalmia, Hypoplastic male external genitalia OMIM:608091
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Male urethral meatus stenosis, Cholelithiasis, Hypospadias ORPHA:464738
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Cryptorchidism, Hypoplasia of the iris, Acute lymphoblastic leukemi... OMIM:223370
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... OMIM:610829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Cryptorchidism, Buphthalmos, Hypoplastic male external genitalia, Microph... OMIM:236670
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Cryptorchidism, Microphthalmia, Ant... ORPHA:2162
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Basal Cell Nevus Syndrome 1
Microphthalmia, Ovarian fibroma, Ovarian carcinoma OMIM:109400
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal v... OMIM:236680
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... ORPHA:2052
Frontorhiny
Microphthalmia, Hypopituitarism ORPHA:391474
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... ORPHA:2556
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Phace Association
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid OMIM:606519
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Microphthalmia, Ambiguous genitalia, Vaginal neoplasm ORPHA:1052
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Thyroid C cell hyperplasia OMIM:300952
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia, Polycystic ovaries ORPHA:137675
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Bilateral microphthalmos ORPHA:2839
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Microphthalmia, Cryptorchidism OMIM:616300
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:250989
Roberts Syndrome
Thrombocytopenia, Cryptorchidism, Long penis, Microphthalmia, Clitoral hypertrophy ORPHA:3103
Trichothiodystrophy
Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Go... ORPHA:33364
Monosomy 9Q22.3
Microphthalmia, Ovarian fibroma ORPHA:77301
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia ORPHA:3320
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hypospadias, Abnormality of the tonsils, Splenomegaly, Cryptorchidism, Hypopl... ORPHA:567
2Q31.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:251014
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... OMIM:261540
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Clitoral hypoplasia, Anterior hypopituitarism ORPHA:709
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Degcags Syndrome
Pancytopenia, Hypospadias, Congenital hypoplastic anemia, Cryptorchidism, Hepatosplenomegaly, Leu... OMIM:619488
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism OMIM:234100
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple ORPHA:1236
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size, Anemia ORPHA:93325
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Annular pancreas, Hypogonadism, Cryptorchidism OMIM:268400
Cockayne Syndrome B
Splenomegaly, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Micropenis OMIM:133540
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Incontinentia Pigmenti
Microphthalmia, Eosinophilia, Supernumerary nipple ORPHA:464
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Microphthalmia, Micropenis OMIM:609945
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Labial hypoplasia, Mi... ORPHA:138
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Fraser Syndrome 1
Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Abnormal thymus morphology, ... OMIM:219000
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Papillorenal Syndrome
Microphthalmia OMIM:120330
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Pallister-Hall Syndrome
Thyroid hypoplasia, Hypopituitarism, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidi... ORPHA:672
Monosomy 9P
Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism ORPHA:261112
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Hydrocele testis, Hypoplastic nipples, Microphthalmia, Thyr... OMIM:620186
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Thrombocytopenia, Cryptorchidism, Buphthalmos, Azoospermia, Microphthalmia, ... ORPHA:534
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Annular pancreas, Hypospadias, Cryptorchidism OMIM:616975
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Steinfeld Syndrome
Microphthalmia, Absent gallbladder OMIM:184705
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Charge Syndrome
Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, External genital hypoplasia, Dec... OMIM:214800
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism ORPHA:2108
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Hypospadias, Optic nerve hypoplasia ORPHA:508498
Microphthalmia, Syndromic 2
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Microphthalmia OMIM:300166
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus ORPHA:457284
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Aicardi Syndrome
Precocious puberty, Microphthalmia ORPHA:50
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Micropenis, Supernumerary nipple, Cryptorchidism OMIM:613884
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Small scrotum, Hypospadias, Cryptorchidism OMIM:616734
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Cryptorchidism ORPHA:1106
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... ORPHA:69085
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Mend Syndrome
Microphthalmia, Cryptorchidism ORPHA:401973
Cat Eye Syndrome
Microphthalmia OMIM:115470
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia majora, Microphthalmia, ... ORPHA:3472
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Isolated Arrhinia
Microphthalmia ORPHA:1134
Aicardi Syndrome
Precocious puberty, Microphthalmia OMIM:304050
Cockayne Syndrome Type 3
Microphthalmia, Splenomegaly ORPHA:90324
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Microphallus ORPHA:468631
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Micr... OMIM:612289
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia, Ectopic thyroid ORPHA:42775
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Cockayne Syndrome
Microphthalmia, Splenomegaly, Cryptorchidism ORPHA:191
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus... OMIM:618280
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... ORPHA:857
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Focal Dermal Hypoplasia
Anophthalmia, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Hypoplastic nipples, Lab... OMIM:305600
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia ORPHA:141099
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Myhre Syndrome
Microphthalmia, Cryptorchidism OMIM:139210
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism OMIM:610828
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Neu-Laxova Syndrome 1
Cryptorchidism, Microphthalmia, Bifid uterus OMIM:256520
Renpenning Syndrome 1
Microphthalmia, Hypospadias, Decreased testicular size, Phimosis OMIM:309500
Norrie Disease
Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Uterine rupture, Micropht... ORPHA:649
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Absent gallbladder ORPHA:3186
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicornuate uter... OMIM:268300
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99413
Turner Syndrome
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:881
Mosaic Monosomy X
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Abnormality of the ovary, Gonadoblastoma ORPHA:99226
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Okamoto Syndrome
Splenomegaly, Bifid uterus, Abnormally large globe ORPHA:2729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology OMIM:154500
Holoprosencephaly 1
Microphthalmia, Micropenis OMIM:236100
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Microphthalmia, Anterior hypopi... OMIM:607932
Witteveen-Kolk Syndrome
Hypospadias, Unilateral cryptorchidism, Decreased response to growth hormone stimulation test, Ph... OMIM:613406
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Supernumerary nipple, Cryptorchidism, Microphthalmia, Ectopic thymus t... OMIM:113620
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia OMIM:130050
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Monosomy 13Q14
Microphthalmia ORPHA:1587
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Cryptorchidism OMIM:309000
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Asplenia, Cryptorchidism, Hydrocele tes... ORPHA:261537
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Microphthalmia OMIM:235730
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Asplenia, Cryptorchidism, Hydrocele tes... ORPHA:2152
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hemolytic anemia OMIM:175780
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma OMIM:619539
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Asplenia, Cryptorchidism, Hydrocele tes... ORPHA:261552
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Holoprosencephaly 2
Microphthalmia, Anterior pituitary agenesis OMIM:157170
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia, Hypospadias, Cryptorchidism OMIM:309800
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210

Histopathology

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

There is no histopathology data for Zc3h12b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zc3h12b.

No publications found that use IMPC mice or data for Zc3h12b.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Zc3h12btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Zc3h12bem1(IMPC)Tcp Exon Deletion Mice
Zc3h12btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Zc3h12btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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