Gene Summary

Name:
WD repeat domain 62
Synonyms:
2310038K02Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Wdr62em1(IMPC)Tcp HOM Early adult 0.00
small testis Wdr62em1(IMPC)Tcp HOM Early adult 0.00
microphthalmia Wdr62em1(IMPC)Tcp HOM Early adult 0.00
small kidney Wdr62em1(IMPC)Tcp HOM Early adult 0.00
small seminal vesicle Wdr62em1(IMPC)Tcp HOM Early adult 0.00
decreased prepulse inhibition Wdr62em1(IMPC)Tcp HOM Early adult 2.87×10-05
male infertility Wdr62em1(IMPC)Tcp HOM Early adult 0.00
increased circulating sodium level Wdr62em1(IMPC)Tcp HOM Early adult 3.33×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Gross Pathology and Tissue Collection

Images

8 Images

Histopathology

Images

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Immunophenotyping

Panel B FCS file(s)

5 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

Human diseases caused by Wdr62 mutations

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

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

The table below shows human diseases associated to Wdr62 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Hypoplasia of the corpus callosum, Abnormal corpus callosum morphology, Polymicrogyri... OMIM:604317
Autosomal Recessive Primary Microcephaly
Pachygyria, Growth delay, Short stature, Hypoplasia of the frontal lobes, Microcephaly, Agenesis ... ORPHA:2512

The table below shows human diseases predicted to be associated to Wdr62 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Webb-Dattani Syndrome
Neurogenic bladder, Cryptorchidism, Hypernatremia, Pituitary hypothyroidism, Vesicoureteral reflu... OMIM:615926
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hyponatremia, Renal salt wasting, Congenital hypothyroidism, Hyperkalemia, Precoc... OMIM:614736
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Glucose-Galactose Malabsorption
Hematuria, Hypernatremia, Hypercalcemia, Renal insufficiency, Nephrolithiasis ORPHA:35710
Diabetes Insipidus, Nephrogenic, X-Linked
Diabetes insipidus, Megacystis, Polyuria, Hypernatremia OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Megacystis, Polyuria, Hypernatremia OMIM:125800
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Hyponatremia, Impotence, Hypopituitarism, Pituitary hypothyroidism, Adrenocortico... ORPHA:91354
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality... ORPHA:223
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Urogenital sinus anomaly, Azoospermia, Am... ORPHA:261529
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Neuroleptic Malignant Syndrome
Hypocalcemia, Acute kidney injury, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated circulati... ORPHA:94093
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Faciothoracogenital Syndrome
Glandular hypospadias, Shawl scrotum, Microphthalmia, Prominent scrotal raphe OMIM:227320
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Female external genitali... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Female external genitali... ORPHA:168558
Pyruvate Carboxylase Deficiency
Lacticaciduria, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-g... ORPHA:3008
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microphthalmia ORPHA:2528
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Hartsfield Syndrome
Cryptorchidism, Hypernatremia, Hypospadias, Diabetes insipidus, Micropenis, Gonadotropin deficiency OMIM:615465
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Hyponatremia, Increased circulating renin level, Rena... OMIM:610600
Kennedy Disease
Erectile dysfunction, Abnormal circulating lipid concentration, Testicular atrophy, Type II diabe... ORPHA:481
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Decreased testicular size, Shawl sc... OMIM:617053
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Hyposthenuria, Amenorrhe... ORPHA:95512
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Panhypophysitis
Pituitary hypothyroidism, Abnormality of the posterior pituitary, Abnormal size of pituitary glan... ORPHA:95513
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Renal salt wasting, Decreased circulating aldost... OMIM:203400
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Hypoplasia of the corpus callosum, Abnormal corpus callosum morphology, Polymicrogyri... OMIM:604317
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Microphthalmia, Anophthalmia OMIM:615524
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Renal salt wasting, Pseud... OMIM:264350
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556037
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa... ORPHA:556030
Central Diabetes Insipidus
Nocturia, Hyponatremia, Diabetes insipidus ORPHA:178029
Generalized Pseudohypoaldosteronism Type 1
Recurrent tonsillitis, Hyponatremia, Increased circulating renin level, Cholelithiasis, Glucocort... ORPHA:171876
Hypoadrenocorticism, Familial
Hyperkalemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia OMIM:240200
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Hyperactive renin-an... ORPHA:90790
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperactive renin-angiotensin system, Increased circulating renin level, Hyperaldos... OMIM:177735
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Hypochloremia, Hypercalciuria, Hypokal... OMIM:300971
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Sheehan Syndrome
Pituitary hypothyroidism, Abnormal size of pituitary gland, Adrenocorticotropin deficient adrenal... ORPHA:91355
Addison Disease
Hyperuricemia, Delayed puberty, Hypercalcemia, Decreased circulating aldosterone level, Primary a... ORPHA:85138
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hyponatremia, Goiter, Hashimoto thyroiditis ORPHA:83601
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele, Nephrolithiasis OMIM:301060
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Microphthalmia, External genital hypoplasia ORPHA:363741
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Chronic kidney disease, Hypomagnesemia... OMIM:613845
Hereditary Coproporphyria
Porphyrinuria, Dark urine, Hyponatremia, Nephropathy, Abnormal circulating porphyrin concentratio... ORPHA:79273
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Horseshoe kidney, Renal hypoplasia, Abnormal spleen mo... ORPHA:2470
Cofs Syndrome
Hypogonadism, Microphthalmia ORPHA:1466
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Oligomen... ORPHA:95613
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypercalciuria, Congenital hypoparathyroidism, Hypomagnesemia, Parathyroid agenesis... ORPHA:2239
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Testicular atrophy, Decreased fertility OMIM:313200
Nanophthalmos
Microphthalmia ORPHA:35612
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Azoospermia, Amenorrhea, Increased serum iron, Impo... OMIM:235200
Legionnaires Disease
Hematuria, Hyponatremia, Splenomegaly, Renal insufficiency, Bone marrow hypocellularity, Lymphade... ORPHA:549
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Microphthalmia OMIM:601794
Whipple Disease
Erectile dysfunction, Hypothyroidism, Hyponatremia, Splenomegaly, Mediastinal lymphadenopathy ORPHA:3452
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Snakebite Envenomation
Hyponatremia, Acute kidney injury, Hypopituitarism ORPHA:449285
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Purple urine, Hyponatremia, Abnormal circulat... ORPHA:100924
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Microphthalmia OMIM:274270
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Pierpont Syndrome
Cryptorchidism, Micropenis, Microphthalmia OMIM:602342
Warburg Micro Syndrome 1
Cryptorchidism, Microphthalmia, External genital hypoplasia OMIM:600118
Acute Adrenal Insufficiency
Androgen insufficiency, Renal insufficiency, Adrenal hypoplasia, Primary adrenal insufficiency, D... ORPHA:95409
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Bresek Syndrome
Cryptorchidism, Renal hypoplasia, Vesicoureteral reflux, Optic nerve hypoplasia, Microphthalmia, ... ORPHA:85284
Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Renal salt wasting, Adrenal insufficiency, Proxi... ORPHA:427
Oculocerebrocutaneous Syndrome
Cryptorchidism, Microphthalmia, Anophthalmia OMIM:164180
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Hypocalcemia, Hypothyroidism, Polyuria, Hyponatremia, Hypertriglyceridemia, Hypoa... OMIM:618183
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Cholera
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Hyponatremia, Abnormal blood i... ORPHA:173
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia, Adrenal hypoplasia, Adrenocorticotropin defic... ORPHA:199296
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Wolcott-Rallison Syndrome
Hypothyroidism, Central hypothyroidism, Hyperbilirubinemia, Hyponatremia, Chronic kidney disease,... ORPHA:1667
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypokalemia, Hypochloremia OMIM:214700
Cystinosis, Nephropathic
Decreased plasma carnitine, Male hypogonadism, Generalized aminoaciduria, Hypophosphatemic ricket... OMIM:219800
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Microphthalmia OMIM:120433
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Oliguria, Hypokal... ORPHA:31824
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Porphyria Variegata
Neurogenic bladder, Porphyrinuria, Hyponatremia, Chronic kidney disease, Abnormal circulating por... ORPHA:79473
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Infertility, Abnormality of iron homeostasis, Ameno... ORPHA:465508
Holoprosencephaly
Cryptorchidism, Panhypopituitarism, Anophthalmia, Hyponatremia, Microphthalmia, Hypoplasia of pen... ORPHA:2162
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Microphthalmia OMIM:612530
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis, Hydroureter ORPHA:2547
Trisomy 13
Cryptorchidism, Abnormal morphology of female internal genitalia, Multiple renal cysts, Aplasia/H... ORPHA:3378
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Bilateral microphthalmos, Vaginal fistula, Unilateral microphthalmos OMIM:619318
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Cat-Eye Syndrome
Hydronephrosis, Microphthalmia ORPHA:195
Congenital Toxoplasmosis
Microphthalmia, Lymphadenopathy ORPHA:858
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Hypercholesterolemia, Hematuria, Hypercalciuria, Delayed puberty, Renal insuffici... ORPHA:534
Gracile Bone Dysplasia
Aniridia, Hypocalcemia, Asplenia, Microphthalmia, Hypoplastic spleen, Micropenis OMIM:602361
Shigellosis
Acute kidney injury, Splenic abscess, Hyponatremia, Abnormal blood ion concentration, Hemolytic-u... ORPHA:810
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Genital ulcers OMIM:602450
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion, Abnormality of the lymph nodes OMIM:136580
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Microphthalmia, Decreased testicular size, Micropenis ORPHA:335
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Hypogonadism, Scrotal hypoplasia, Microphthalmia ORPHA:228390
Congenital Rubella Syndrome
Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Microphthalmia, Splenomegaly ORPHA:290
Autosomal Recessive Primary Microcephaly
Pachygyria, Growth delay, Short stature, Hypoplasia of the frontal lobes, Microcephaly, Agenesis ... ORPHA:2512
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Short stature, Microcephaly, Male infertility, Prolonged G2 phase... OMIM:227650
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyperactive renin-angiotensin system, ... ORPHA:89938
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Acute Intermittent Porphyria
Dysuria, Dark urine, Elevated urinary delta-aminolevulinic acid, Hyponatremia, Urinary incontinen... ORPHA:79276
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Pancreatic cysts, Hyponatremia, Biliary hyperplasia, Oligur... ORPHA:731
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Microphthalmia OMIM:606744
Moebius Syndrome
Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis, Microphthalmia OMIM:157900
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Renal hypoplasia, Hypothyroidism, Vesicoureteral reflux, Optic nerve hypoplasia... OMIM:609053
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Isolated Optic Nerve Hypoplasia/Aplasia
Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Vesicoureteral ... ORPHA:137902
Warburg Micro Syndrome 4
Cryptorchidism, Scrotal hypoplasia, Microphthalmia, Decreased testicular size, Micropenis OMIM:615663
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Cerebrooculofacioskeletal Syndrome 2
Scrotal hypoplasia, Micropenis, Microphthalmia OMIM:610756
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hypernatriuria, Primary adrenal insufficiency, Hyponatremia, Abnormal urine... ORPHA:275761
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia... ORPHA:167
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Microcephaly, Prolonged G2 phase of cell cycle, Short stature OMIM:600901
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Short stature, Intrauterine growth retardation, Microcephaly, Pro... OMIM:227645
Microphthalmia, Syndromic 3
Cryptorchidism, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Microphthalmia, Anophthalm... OMIM:206900
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary, Optic nerve hypoplasia, Microphthalmia, Anophthalmia... OMIM:610125
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia ORPHA:2788
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Warburg Micro Syndrome 3
Scrotal hypoplasia, Hypoplastic labia minora, Microphthalmia, Decreased testicular size, Micropenis OMIM:614222
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hypospadias ORPHA:77298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Microphthalmia OMIM:613153
Infant Botulism
Hyponatremia ORPHA:178478
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal cy... OMIM:120330
Ring Chromosome 10 Syndrome
Hypocalcemia, Microphthalmia ORPHA:1438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Multiple Benign Circumferential Skin Creases On Limbs
Cryptorchidism, Abnormality of the scrotum, Scrotal hypoplasia, Microphthalmia, Hypospadias ORPHA:2505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Baraitser-Winter Syndrome 1
Cryptorchidism, Micropenis, Microphthalmia OMIM:243310
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis, Bone marrow hypocellularity, Microphthalmia OMIM:614083
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Microphthalmia, Type II diabetes mellitus ORPHA:3191
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Cryptorchidism, Scrotal hypoplasia, Microphthalmia OMIM:616734
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Marden-Walker Syndrome
Cryptorchidism, Renal hypoplasia, Microphthalmia, Hypospadias, Micropenis OMIM:248700
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Hypothyroidism, Testicular atrophy, Hydronephrosis, Diabetes ins... OMIM:222300
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Scrotal hypoplasia, Multiple bladder diverticula, Microphthalmia, Proteinuria ORPHA:2728
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Warburg Micro Syndrome 2
Cryptorchidism, Scrotal hypoplasia, Hypoplastic labia majora, Microphthalmia, Micropenis OMIM:614225
Fanconi Anemia, Complementation Group D2
Agenesis of corpus callosum, Hypergonadotropic hypogonadism, Hypoplasia of the corpus callosum, P... OMIM:227646
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyponatremia, Hemoglo... ORPHA:90038
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Cryptorchidism, Vesicoureteral reflux, Microphthalmia ORPHA:494344
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia OMIM:618652
Hydrolethalus
Cryptorchidism, Abnormal fallopian tube morphology, Microphthalmia, Anophthalmia ORPHA:2189
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Microphthalmia, Abnormality of the hypothalamus-pituitary axis, Anophthalmia ORPHA:139471
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microphthalmia OMIM:618805
Fanconi Anemia, Complementation Group F
Cryptorchidism, Microphallus, Renal hypoplasia, Vesicoureteral reflux, Microphthalmia, Pelvic kid... OMIM:603467
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Precocious puberty, Microphthalmia, Anophthalmia OMIM:615877
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Micro Syndrome
Cryptorchidism, Clitoral hypoplasia, Hypoplastic labia minora, Delayed puberty, Hydronephrosis, M... ORPHA:2510
Temtamy Syndrome
Microphthalmia ORPHA:1777
Japanese Encephalitis
Hyponatremia, Inappropriate antidiuretic hormone secretion ORPHA:79139
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Martsolf Syndrome 1
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Microphthalmia OMIM:212720
Familial Dysautonomia
Renal insufficiency, Hyponatremia ORPHA:1764
Mosaic Trisomy 9
Cryptorchidism, Multiple renal cysts, Horseshoe kidney, Abnormality of the uterus, Hypoplastic fe... ORPHA:99776
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Microphthalmia, Syndromic 9
Cryptorchidism, Horseshoe kidney, Renal hypoplasia, Anophthalmia, Bilateral microphthalmos, Hypop... OMIM:601186
Ciliary Dyskinesia, Primary, 14
Male infertility, Polysplenia, Immotile sperm, Reduced sperm motility OMIM:613807
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Hyponatremia, Enuresis, Decreased response to growt... ORPHA:293987
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Acute kidney injury, Anuria, Nephrotic range proteinuria, Hyponatremia, Oliguria, D... ORPHA:544482
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Cryptorchidism, Anophthalmia, Microphthalmia,... ORPHA:899
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Adrenal hypoplasia, Hydroureter, Renal hypoplasia, Decreased ... OMIM:146510
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian neoplasm OMIM:617883
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria, Microphthalmia OMIM:619053
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hypoplasia of the iris, Hydronephrosis, Microphthalmia, Pelvic kidney OMIM:613001
Meckel Syndrome
Urethral atresia, Cryptorchidism, Ambiguous genitalia, Accessory spleen, Pancreatic cysts, Aplasi... ORPHA:564
Monosomy 18P
Hypothyroidism, Microphthalmia ORPHA:1598
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Joubert Syndrome 14
Renal cyst, Microphthalmia OMIM:614424
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Anophthalmia, External genital hypoplasia, Microphthalmia, Hypoplasia of penis, H... ORPHA:2250
Pseudotrisomy 13 Syndrome
Cryptorchidism, Adrenal hypoplasia, Renal hypoplasia, Bicornuate uterus, Microphthalmia, Micropenis OMIM:264480
Purine Nucleoside Phosphorylase Deficiency
Increased circulating guanosine concentration, Hypouricemia, Lymph node hypoplasia, Splenomegaly,... OMIM:613179
Agammaglobulinemia, X-Linked
Prostatitis, Lymph node hypoplasia, Epididymitis OMIM:300755
Refsum Disease
Renal insufficiency, Microphthalmia, Splenomegaly ORPHA:773
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Microphthalmia, Lens coloboma OMIM:618914
Kapur-Toriello Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Microphthalmia OMIM:244300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Elevated circulating creatine kinase concentration, Abnormally large globe OMIM:615249
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Renal cyst, Microphthalmia, Hypoplastic male externa... OMIM:608091
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis ORPHA:2328
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia, Type II diabetes m... ORPHA:88673
Norrie Disease
Hypoplasia of the iris, Microphthalmia OMIM:310600
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst, Microphthalmia OMIM:603194
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Bifid scrotum, Penoscrotal transposition, Microphthalmia, Hypospadias OMIM:619148
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos, Male pseudohermaphroditism OMIM:600122
Lesch-Nyhan Syndrome
Hyperuricosuria, Testicular atrophy, Hyperuricemia, Nephrolithiasis OMIM:300322
Solitary Median Maxillary Central Incisor
Anterior hypopituitarism, Decreased response to growth hormone stimuation test, Microphthalmia, A... OMIM:147250
Congenital Muscular Dystrophy With Cerebellar Involvement
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Trichothiodystrophy 4, Nonphotosensitive
Decreased fertility, Microphthalmia OMIM:234050
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Microphthalmia OMIM:604229
Spondyloepiphyseal Dysplasia, Nishimura Type
Oligosacchariduria, Microphthalmia ORPHA:163649
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Microphthalmia OMIM:619135
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Ambiguous genitalia, Renal hypoplasia, Renal cyst, Microphthalmia OMIM:616300
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Microphthalmia ORPHA:404440
Fryns Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Bicornuate uterus, Vesicoureteral reflux, Hydroneph... ORPHA:2059
Bosma Arhinia Microphthalmia Syndrome
Cryptorchidism, Primary amenorrhea, Hypoplastic labia majora, Microphthalmia, Hypogonadotropic hy... OMIM:603457
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Meckel Syndrome, Type 1
Cryptorchidism, Elevated amniotic fluid alpha-fetoprotein, Abnormality of the uterus, Accessory s... OMIM:249000
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Microphthalmia, Hypospadias, ... OMIM:309801
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Microphthalmia, Hypoplasia of penis ORPHA:284160
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst, Microphthalmia OMIM:611134
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Microphthalmia OMIM:610651
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of th... ORPHA:2334
Mosaic Trisomy 1
Penile hypospadias, Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis ORPHA:1692
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Transient hypophosphatemia, Microphthalmia, Hypoparathyroidism, Hyperphosphatemia OMIM:127000
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Cousin Syndrome
Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis, Microphthalmia OMIM:260660
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Trichothiodystrophy 1, Photosensitive
Hypogonadism, Microphthalmia OMIM:601675
Fanconi Anemia
Cryptorchidism, Abnormality of the uterus, Azoospermia, Absent testis, Abnormality of the hypotha... ORPHA:84
Chondrodysplasia Punctata 2, X-Linked Dominant
Elevated 8(9)-cholestenol, Hydronephrosis, Microphthalmia, Elevated 8-dehydrocholesterol OMIM:302960
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Jacobsen Syndrome
Cryptorchidism, Macular hypoplasia, Clitoral hypoplasia, Microphthalmia, Hypospadias, Labial hypo... OMIM:147791
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Microphthalmia, Stage 5 chronic kidney disease, Nephrotic syndrome, Hypoalb... OMIM:617729
3Q29 Microdeletion Syndrome
Hypospadias, Horseshoe kidney, Microphthalmia ORPHA:65286
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Horseshoe kidney, Optic disc hypoplasia, Renal hypoplasia, Vesicoure... OMIM:607323
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Vesicoureteral reflux, Microphthalmia OMIM:600123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Elevated circulating creatine kinase concentration, Buphthalmos, Microphthalmia OMIM:616538
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Ambiguous genitalia, Adrenal hypoplasia, Microphthalmia, Thyroid hypoplasia, Hypo... ORPHA:2166
Stromme Syndrome
Accessory spleen, Bilateral renal hypoplasia, Optic nerve hypoplasia, Microphthalmia, Hydronephrosis OMIM:243605
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Microphthalmia, Lenz Type
Cryptorchidism, Hydroureter, Hydronephrosis, Microphthalmia, Hypospadias ORPHA:568
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplastic nipples, Microphthalmia OMIM:156610
Charge Syndrome
Cryptorchidism, Hypocalcemia, Horseshoe kidney, Hypoplastic male external genitalia, Renal hypopl... OMIM:214800
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux, Optic nerve aplasia, Microphthalmia OMIM:120200
Primary Ciliary Dyskinesia
Polysplenia, Female infertility, Abnormal sperm motility, Asplenia, Male infertility ORPHA:244
Autosomal Dominant Kenny-Caffey Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Bilateral microphthalmos, Hypoca... ORPHA:93325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Cryptorchidism, Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatin... OMIM:236670
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Microphthalmia, Hypospadias ORPHA:464738
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Hallermann-Streiff Syndrome
Cryptorchidism, Microphthalmia OMIM:234100
Tetraamelia Syndrome 1
Urethral atresia, Hypoplasia of the fallopian tube, Absent external genitalia, Vaginal atresia, A... OMIM:273395
Treacher-Collins Syndrome
Cryptorchidism, Scrotal hypoplasia, Hypoplasia of the thymus, Rectovaginal fistula, Microphthalmi... ORPHA:861
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Cohen Syndrome
Cryptorchidism, Delayed puberty, Microphthalmia ORPHA:193
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoplasia of the iris, Microphthalmia, Hypoalbuminemia, Neph... OMIM:251300
Fraser Syndrome
Urethral atresia, Cryptorchidism, Ambiguous genitalia, Abnormal vagina morphology, Renal hypoplas... ORPHA:2052
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypocalcemia, Multiple renal cysts, Abnormality of the uterus, Renal hypoplasia, ... ORPHA:567
Fryns Syndrome
Cryptorchidism, Bifid scrotum, Polysplenia, Shawl scrotum, Ectopic pancreatic tissue, Bicornuate ... OMIM:229850
Vacterl With Hydrocephalus
Cryptorchidism, Abnormal fallopian tube morphology, Microphthalmia, Anophthalmia ORPHA:3412
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Dubowitz Syndrome
Hypoplasia of the iris, Hypospadias, Cryptorchidism, Microphthalmia OMIM:223370
Rodrigues Blindness
Microphthalmia OMIM:268320
Trisomy 18
Abnormal morphology of female internal genitalia, Cryptorchidism, Hydronephrosis, Microphthalmia ORPHA:3380
Microgastria-Limb Reduction Defect Syndrome
Crossed fused renal ectopia, Horseshoe kidney, Perineal fistula, Multicystic kidney dysplasia, Re... ORPHA:2538
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Holoprosencephaly 9
Cryptorchidism, Panhypopituitarism, Anterior pituitary agenesis, Anterior pituitary hypoplasia, O... OMIM:610829
Incontinentia Pigmenti
Breast hypoplasia, Breast aplasia, Hypoplastic nipples, Microphthalmia, Hypoplasia of the fovea, ... OMIM:308300
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Bartsocas-Papas Syndrome 1
Ambiguous genitalia, Bilateral cryptorchidism, Absent external genitalia, Hypoplastic labia major... OMIM:263650
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Cryptorchidism, Renal hypoplasia, Unilateral renal... ORPHA:191
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Hypogonadism, Microphthalmia, Annular pancreas OMIM:268400
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Charge Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Horseshoe kidney, Bifid scrotum... ORPHA:138
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydronephrosis, Bilateral microphthalmos ORPHA:2839
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Vesicoureteral reflux, Hydronephrosis, Microphthalmia ORPHA:250989
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cockayne Syndrome B
Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Splenomegaly, Renal insufficiency, Microp... OMIM:133540
Frontorhiny
Diabetes insipidus, Microphthalmia, Hypopituitarism ORPHA:391474
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Vesicoureteral reflux, Renal cyst, Microphthalmia, Hypospadias, Annular pancreas OMIM:616975
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Hyperinsulinemia, Fatigable weakness of bulbar muscles, ... ORPHA:273
Townes-Brocks Syndrome
Cryptorchidism, Multiple renal cysts, Abnormality of the uterus, Abnormal vagina morphology, Bifi... ORPHA:857
Microphthalmia With Linear Skin Defects Syndrome
Ambiguous genitalia, Abnormal testis morphology, Abnormal penis morphology, Clitoral hypertrophy,... ORPHA:2556
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Ciliary Dyskinesia, Primary, 1
Male infertility, Asplenia OMIM:244400
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Cockayne Syndrome Type 3
Neurogenic bladder, Hydroureter, Renal hypoplasia, Unilateral renal agenesis, Urinary retention, ... ORPHA:90324
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy, Ectopic kidney, Hypospadias ORPHA:3063
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Focal Dermal Hypoplasia
Horseshoe kidney, Multicystic kidney dysplasia, Hypoplasia of the iris, Hydronephrosis, Microphth... ORPHA:2092
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Horseshoe kidney, Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia, Pelvic kidney, Hyposp... ORPHA:508498
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Elevated circulating creatine kinase concentration, Buphthalmos, Microphthalmia OMIM:613150
Phace Association
Lingual thyroid, Congenital hypothyroidism, Optic nerve hypoplasia, Microphthalmia OMIM:606519
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Mend Syndrome
Cryptorchidism, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Microphthalmia ORPHA:401973
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Hypothyroidism, Multicystic kidney dysplasia, Microphthalmia, Vaginal neoplasm ORPHA:1052
Monosomy 9P
Cryptorchidism, Ambiguous genitalia, Ureteropelvic junction obstruction, Microphthalmia, Hypospadias ORPHA:261112
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Septate vagina, Microphthalmia, Uterus didelphys, Absent gallbladder, Micropenis OMIM:617925
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Teebi-Shaltout Syndrome
Horseshoe kidney, Ureteral stenosis, Hydronephrosis, Microphthalmia OMIM:272950
Hemifacial Microsomia
Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicoureteral reflux, Ectopic ... OMIM:164210
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Supernumerary nipple, Microphthalmia ORPHA:1236
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Hyperphosphaturi... OMIM:309000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Microphthalmia OMIM:614643
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Microphthalmia OMIM:253800
Roberts Syndrome
Cryptorchidism, Long penis, Polycystic kidney dysplasia, Microphthalmia, Clitoral hypertrophy ORPHA:3103
Acro-Renal-Ocular Syndrome
Crossed fused renal ectopia, Horseshoe kidney, Optic disc hypoplasia, Bladder diverticulum, Vesic... ORPHA:959
Hallermann-Streiff Syndrome
Cryptorchidism, Microphthalmia, Hypothyroidism ORPHA:2108
Histiocytoid Cardiomyopathy
Congenital aphakia, Renal cyst, Microphthalmia, Polycystic ovaries ORPHA:137675
Microphthalmia, Syndromic 6
Cryptorchidism, Small scrotum, Adrenal hypoplasia, Bifid scrotum, Abnormality of the hypothalamus... OMIM:607932
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Horseshoe kidney, Bifid scrotum, Clitoral hypoplasia, Microphthalmia, Hypospadias... OMIM:609945
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Microphallus, Unilateral renal agenesis, Bilateral microphthalmos, Optic nerve hy... ORPHA:468631
Pallister-Hall Syndrome
Cryptorchidism, Scrotal hypoplasia, Pituitary hypothyroidism, Decreased testicular size, Micropen... ORPHA:672
Basal Cell Nevus Syndrome
Ovarian fibroma, Microphthalmia, Ovarian carcinoma OMIM:109400
Focal Dermal Hypoplasia
Aniridia, Cryptorchidism, Horseshoe kidney, Bifid ureter, Labial hypoplasia, Clitoral hypoplasia,... OMIM:305600
Renpenning Syndrome 1
Renal hypoplasia, Decreased testicular size, Microphthalmia, Hypospadias, Phimosis OMIM:309500
Fraser Syndrome 1
Cryptorchidism, Renal hypoplasia, Clitoral hypertrophy, Bilateral microphthalmos, Vaginal atresia... OMIM:219000
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Monosomy 9Q22.3
Ovarian fibroma, Microphthalmia ORPHA:77301
Bloom Syndrome
Recurrent tonsillitis, Azoospermia, Oligospermia, Diabetes mellitus, Male infertility, Premature ... ORPHA:125
Microphthalmia With Limb Anomalies
Horseshoe kidney, Cryptorchidism, True anophthalmia, Microphthalmia ORPHA:1106
Incontinentia Pigmenti
Supernumerary nipple, Microphthalmia ORPHA:464
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Trichothiodystrophy
Cryptorchidism, Gonadal dysgenesis, Bilateral microphthalmos ORPHA:33364
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Hydrolethalus Syndrome 1
Bifid uterus, Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Hydronephro... OMIM:236680
Cat Eye Syndrome
Microphthalmia OMIM:115470
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Microphthalmia ORPHA:268249
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Aicardi Syndrome
Precocious puberty, Microphthalmia, Delayed puberty ORPHA:50
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Witteveen-Kolk Syndrome
Cryptorchidism, Microphallus, Microphthalmia, Hypospadias, Micropenis, Decreased response to grow... OMIM:613406
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Microphthalmia, Abnormality of the hypothalamus-pituitary axis ORPHA:251014
Fontaine Progeroid Syndrome
Cryptorchidism, Absent nipple, Scrotal hypoplasia, Hypoplastic nipples, Hypoplastic labia majora,... OMIM:612289
Yunis-Varon Syndrome
Cryptorchidism, Renovascular hypertension, Clitoral hypertrophy, Bilateral microphthalmos, Hypopl... ORPHA:3472
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Steinfeld Syndrome
Absent gallbladder, Microphthalmia OMIM:184705
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs