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Gene: Efna5 MGI:107444

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Gene Summary

Name:
ephrin A5
Synonyms:
LERK-7,  Ephrin-A5,  AL-1,  RAGS,  Epl7,  EFL-5

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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
decreased grip strength Efna5tm1b(EUCOMM)Wtsi HOM Early adult 7.46×10-05
hyperactivity Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.10×10-09
male infertility Efna5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
hydrometra Efna5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased locomotor activity Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.12×10-05
enlarged adrenal glands Efna5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased anxiety-related response Efna5tm1b(EUCOMM)Wtsi HOM Early adult 6.31×10-05
enlarged kidney Efna5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased fasting circulating glucose level Efna5tm1b(EUCOMM)Wtsi HOM Early adult 4.84×10-07
polycystic kidney Efna5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased thigmotaxis Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.49×10-05
enlarged uterus Efna5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal behavior Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.49×10-05

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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.

Electrocardiogram (ECG)

Waveform Image

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Human diseases caused by Efna5 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 Efna5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian)
Perisylvian polymicrogyria OMIM:615752
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:607432
Hydrolethalus
Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly... ORPHA:2189
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Schisis Association
Encephalocele, Small for gestational age, Spina bifida, Microcephaly, Anencephaly, Tracheoesophag... ORPHA:63862
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Gonadal dysgenesis, Type II lissencephaly OMIM:615041
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome OMIM:201910
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:300067
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Anencephaly 2
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Distal Deletion 13Q
Encephalocele, Microcephaly, Anencephaly, Primary adrenal insufficiency, Optic atrophy, Aplasia/H... ORPHA:1590
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus ORPHA:2476
Lissencephaly 3
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... OMIM:611603
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Joubert Syndrome 13
Pachygyria OMIM:614173
Diprosopus
Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:1681
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genita... ORPHA:90791
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... OMIM:611134
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Anteriorly placed anus, High pala... OMIM:619148
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Depression, Increased circulating ... OMIM:219080
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
RCAD (renal cysts and diabetes)
Diabetes mellitus, Multiple renal cysts DECIPHER:47
Meckel Syndrome, Type 10
Occipital encephalocele, Hypospadias, Anencephaly, Cleft palate, Cerebellar hypoplasia, Micropeni... OMIM:614175
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Cleft palate OMIM:614120
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Microcephaly, Non-midline cleft lip, Meningocele, Anencephaly, Hydrocephalus, Clef... ORPHA:1908
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased... OMIM:615954
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Microcephaly ORPHA:293
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency, Anencephaly ORPHA:1048
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, Hydranencephaly, Da... OMIM:617967
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Depression, Increased circulating cortisol level, Primary... OMIM:615830
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Bile duct proliferation OMIM:611561
Meckel Syndrome, Type 2
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Bile duct prolifer... OMIM:603194
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Non-mid... ORPHA:887
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... ORPHA:66624
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Cleft palate, Microcephaly OMIM:601355
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia, Decreased circulat... OMIM:613677
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... OMIM:145001
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Schizophrenia 15
Hyperactivity OMIM:613950
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Athetosis, Hyperaldosteronism, ... ORPHA:369929
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Abnor... ORPHA:251274
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... OMIM:103900
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... OMIM:615993
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Long penis, Decre... OMIM:202010
Meckel Syndrome, Type 8
Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability, Neu... OMIM:234500
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Let... OMIM:605899
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Hypoplasia of the brainstem, Stillbirth, Cerebellar hypoplasia, Multinucleated n... OMIM:236500
Trisomy 18
Spina bifida, Microcephaly, Cachexia, Cryptorchidism, Esophageal atresia, Non-midline cleft lip, ... ORPHA:3380
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... OMIM:604317
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, M... ORPHA:90790
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy... OMIM:225790
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Ho... ORPHA:2570
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Septate va... ORPHA:2237
Meckel Syndrome 13
Ataxia, Polycystic kidney dysplasia OMIM:617562
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplasia, Aplasia/hypoplas... ORPHA:2578
Microhydranencephaly
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... OMIM:605013
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnor... OMIM:239500
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cryptorchidism, Non-midline cleft lip, Cleft palate ORPHA:1074
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Meckel Syndrome, Type 6
Abnormal internal genitalia, Absent gallbladder, Occipital encephalocele, Cleft upper lip, Hydroc... OMIM:612284
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Type II lissencephaly, Dysgyria ORPHA:352682
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Renal agenesis, Dysmenorrhea, Abnormal uterine... ORPHA:3411
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... OMIM:194080
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:231580
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Femoral-Facial Syndrome
Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of... ORPHA:1988
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hypospadias, Non-midline cleft lip, Hydrocephalus, Anencephaly... ORPHA:1335
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Secondary amenorrhea, Depression, Attenti... ORPHA:3375
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... OMIM:615287
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Joubert Syndrome 20
Inability to walk, Self-mutilation, Renal cyst, Aggressive behavior OMIM:614970
Pelvis-Shoulder Dysplasia
Hydranencephaly, Spina bifida, Hydrocephalus, Microglossia, Cleft palate, Ambiguous genitalia, Th... ORPHA:2839
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism OMIM:615982
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Meckel Syndrome
Encephalocele, True hermaphroditism, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Micro... ORPHA:564
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hamartoma of tongue, Accessory oral frenulum, Hydrocephalus, Anence... OMIM:616546
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... OMIM:263200
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Ambiguous genitalia, female, Lobulated tong... OMIM:249000
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular bas... OMIM:146255
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis OMIM:268650
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612964
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Polycystic kidney dysplasia OMIM:263210
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Cerebrocostomandibular Syndrome
Cerebral calcification, Spina bifida, Microcephaly, Myelomeningocele, Meningocele, Porencephalic ... ORPHA:1393
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Hydrocephalus, Anence... OMIM:269860
Morm Syndrome
Hyperactivity, Micropenis, Abnormality of the kidney, Aggressive behavior ORPHA:75858
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Anal atresia ORPHA:63260
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, Hyperactivity, Abnorma... ORPHA:805
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Renal Cysts And Diabetes Syndrome
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm... OMIM:137920
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,... OMIM:601076
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Orofacial cleft, Spina... ORPHA:63259
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Bradykinesia, Self... OMIM:619827
Thoracoabdominal Syndrome
Hypospadias, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate OMIM:313850
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Hypoglycemia, L... OMIM:608836
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Inability to walk, Lacticaciduria, 3-Methylglutari... ORPHA:26791
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Müllerian Aplasia And Hyperandrogenism
Obesity, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Short philtrum, Abnormal vag... ORPHA:247768
Ring Chromosome 13 Syndrome
Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Microcephaly, Anencephaly, High palate... ORPHA:96176
Ovarian Dysgenesis 6
Absence of pubertal development, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia o... OMIM:618078
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Attentio... OMIM:617914
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus, Bifid uvula, Cleft palate OMIM:258320
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, P... OMIM:231680
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia,... OMIM:130650
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V... OMIM:236700
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Cousin Syndrome
Hydrocephalus, Ambiguous genitalia, female, Alveolar ridge overgrowth, Cleft palate, Ambiguous ge... OMIM:260660
Neu-Laxova Syndrome 1
Hydranencephaly, Spina bifida, Swollen lip, Bifid uterus, Cryptorchidism, Cleft upper lip, Thick ... OMIM:256520
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, M... ORPHA:2975
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Phenylketonuria
Hyperactivity, Increased level of hippuric acid in urine, Elevated urinary phenylpyruvic acid lev... OMIM:261600
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney dis... OMIM:613095
Phelan-Mcdermid Syndrome
Broad-based gait, Abnormality of the kidney, Aggressive behavior, Tongue thrusting, Unsteady gait... OMIM:606232
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... ORPHA:93111
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasi... OMIM:214110
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe... ORPHA:314588
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Cushing Disease
Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Adrenal hyperpla... ORPHA:96253
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Hyperglycemia, Polydipsia, Polyphagia OMIM:222100
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Renal cyst, Vaginal atresia OMIM:605231
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Hydrolethalus Syndrome 1
Median cleft lip, Hypospadias, Absent septum pellucidum, Abnormal cortical gyration, Bifid uterus... OMIM:236680
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... ORPHA:248111
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia, Attention deficit hyperactivity disorder OMIM:619151
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... OMIM:194072
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Polyphagia, Delayed... ORPHA:251004
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... OMIM:113650
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Satoyoshi Syndrome
Microcephaly, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnor... ORPHA:3130
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... ORPHA:157
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph... OMIM:616212
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus... ORPHA:1756
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... OMIM:619927
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Pancreatic cysts, Splenomegaly, Stage 5 c... OMIM:208540
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young... ORPHA:96149
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Ataxia, Stage 5 chronic kidney disease, Hematuria, Renal cor... OMIM:243910
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria ORPHA:300573
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Leprechaunism
Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Insulin r... ORPHA:508
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Nephrolithiasis, Choreoathetosis, Self-inj... OMIM:620023
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Hypospadias, Splenomegaly, Cryptorchidism, Renal cyst, Hepatosplenomegaly, Athetosi... OMIM:614866
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... ORPHA:228308
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia OMIM:620065
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly OMIM:615191
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Fas... OMIM:232200
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Floating-Harbor Syndrome
Restlessness, Broad-based gait, Hypospadias, Renal agenesis, Impulsivity, Aggressive behavior, Pr... ORPHA:2044
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Renal Hypodysplasia/Aplasia 1
Proteinuria, Primary amenorrhea, Bicornuate uterus, Bilateral renal agenesis, Vaginal atresia, Re... OMIM:191830
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
X-Linked Adrenoleukodystrophy
Hyperactivity, Neurogenic bladder, Aggressive behavior, Increased circulating ACTH level, Impoten... ORPHA:43
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Renal cyst, Secondary amenorrhea, Self-injuriou... ORPHA:488618
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Inability to walk, Splenomegaly, Nephrotic syndrome, Focal segmental g... OMIM:617303
H Syndrome
Diabetes mellitus, Abnormality of the kidney, Hepatosplenomegaly, Azoospermia, Hypogonadism, Dela... ORPHA:168569
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Limb Body Wall Complex
Encephalocele, Spina bifida, Cleft lip, Myelomeningocele, Hydrocephalus, Anencephaly, Cleft palat... ORPHA:2369
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Aplasia of the bladde... OMIM:200980
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Abnorm... ORPHA:722
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Ataxia, Cryptorchidism, Polyphagia, Self-injurious behavior, ... ORPHA:228402
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Polymicrogyria ORPHA:99802
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Pancreatic cysts, Splenomegaly, Elevated circulating thyroid-sti... OMIM:610199
Mody
Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli... ORPHA:552
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism, Uterus didelphys ORPHA:2491
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... OMIM:262190
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Unilateral renal agenesis, Aggressive behavior, Precocious puberty, Cryptorchidism... ORPHA:3306
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Duplication Of Urethra
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Hypoglycemia, Pancreatic fibrosis, Splenomegaly, Nephrolithiasis, Foca... OMIM:232220
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis ORPHA:382
Lumbar Syndrome
Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy... ORPHA:83628
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Decreased te... OMIM:614880
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... OMIM:612651
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Cleft lip, Hypogonadotropic hypogonadism, Cleft palate OMIM:612370
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Diabetic Embryopathy
Microcephaly, Cryptorchidism, Hydrocephalus, Cleft palate, Spinal dysraphism, Aplasia/Hypoplasia ... ORPHA:1926
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... OMIM:158330
Alg3-Cdg
Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Macroglossia, Neural tube de... ORPHA:79321
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Hypospadias, Renal cyst OMIM:231060
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Hypoglycemia, Irregular menstruation, Nephrolithiasis, Stage 5 chronic... ORPHA:79259
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Hepatic cysts OMIM:615415
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Hyperactivity, Broad-based gait, Aggressive behavior ORPHA:457260
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus, Polycystic kidney dysplasia OMIM:619879
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Gait disturbance ORPHA:3270
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Incre... ORPHA:168558
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... OMIM:266810
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Cryptorchidism, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Thin v... OMIM:612938
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... ORPHA:97362
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Irritability, Hypoplasia of the ova... ORPHA:79328
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria ORPHA:370980
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Ataxia, Increased circulating gonadotropin level, ... ORPHA:243
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Hydronephrosis, Sex reversal, Gonadal dysgenesis, Hypo... OMIM:154230
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep... OMIM:613390
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Primary amenorrhea, Cleft palate,... OMIM:147950
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy ORPHA:276183
Triploidy
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Non-midline cleft lip, ... ORPHA:3376
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Hypothyroidism, Hepatomeg... ORPHA:116
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Primary amenorrhea, Cleft palate,... OMIM:244200
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:614842
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Subependymal Nodular Heterotopia
Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration ORPHA:101030
Acalvaria
Abnormality of neuronal migration ORPHA:945
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Enlarged kidney, Hyperparathyroidism, Unilateral renal agenesis OMIM:618188
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Ketotic hypoglycemia, Irritability, Glycosuria, Postprandial hyperglycemia, Lethargy ORPHA:2089
Trisomy 8Q
Hypoplasia of penis, Cryptorchidism, Non-midline cleft lip, Myelomeningocele, Orofacial cleft, Cl... ORPHA:1752
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Cryptorchidism, Cleft palate... ORPHA:397590
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Splenomegaly, Cryptorchidism, Renal hypoplasia,... ORPHA:567
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
46,Xx Sex Reversal 2
Bifid scrotum, Decreased serum testosterone concentration, Hypoplasia of the vagina, Small scrotu... OMIM:278850
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Hyperactivity, Decreased response to growth hormone stimulati... OMIM:615873
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged ... ORPHA:464329
Burkitt Lymphoma
Neoplasm of the oral cavity, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of ... ORPHA:543
Caroli Disease
Hepatomegaly, Anorexia, Splenomegaly, Polycystic kidney dysplasia, Cholelithiasis ORPHA:53035
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Polydipsia, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm,... ORPHA:99880
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bicornuate uterus, En... OMIM:608978
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Splenomegaly, Biliary ... ORPHA:731
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Donnai-Barrow Syndrome
Bicornuate uterus, Proteinuria, Abnormality of the uterus ORPHA:2143
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Vagina... OMIM:616258
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Parathyroid Carcinoma
Renal insufficiency, Polydipsia, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm,... ORPHA:143
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... ORPHA:48
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Hypoglycemia, Splenomegaly, Nephrocalcinosis, Renal Fanconi sy... OMIM:276700
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pri... OMIM:604367
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma... ORPHA:449395
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... OMIM:164745
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Neural tube defect, Hypodontia, Anal atresia OMIM:119580
Ogden Syndrome
Global glomerulosclerosis, Maternal diabetes, Cardiomegaly, Cryptorchidism, Hydrocele testis, Irr... OMIM:300855
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ovotestis, Sex reversal, Adrenal gland ag... OMIM:611812
Glutathionuria
Gray matter heterotopia OMIM:231950
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis OMIM:615989
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina... OMIM:258040
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Ambiguous genitalia, female, Bicornuate uterus, Unilateral renal agenesis OMIM:606408
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism... ORPHA:79500
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Breast hypoplasi... ORPHA:478
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts ORPHA:2924
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst OMIM:617100
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Premature ovarian insufficiency, Streak ovary, Decrea... ORPHA:3464
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Depressio... ORPHA:449291
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Low frustration tolerance, Microphallu... OMIM:300486
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Congenital hypothyroidism OMIM:614613
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Joubert Syndrome 7
Ataxia, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Increased urinary porphobilinogen, Agit... ORPHA:100924
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Hand-Foot-Genital Syndrome
Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch... OMIM:140000
Hand-Foot-Genital Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Bicornuate uterus, A... ORPHA:2438
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... ORPHA:90794
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Inability to walk, Hepatosplenomegaly, Nephrotic... ORPHA:505248
Ovarian Fibroma
Gonadal calcification, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormali... ORPHA:2470
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Low frustration tol... ORPHA:163681
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Bardet-Biedl Syndrome 1
Dental crowding, Aganglionic megacolon, High, narrow palate, Abnormality of the ovary, Obesity, H... OMIM:209900
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Endometriosis, Unilateral re... OMIM:613680
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Micropenis, Pancreatic fibrosis, Polycystic kidney dysplasia OMIM:263520
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... OMIM:119500
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Small for gestational age, Cryptorchidism, Ventral shortening of foreskin, Esophag... ORPHA:95706
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellitus, Renal hypoplasia/aplasia, C... ORPHA:261265
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ataxia, Renal fibrosis, Hydrone... OMIM:618161
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... OMIM:241080
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Mic... OMIM:617516
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Lethargy... OMIM:614922
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Hajdu-Cheney Syndrome
Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Syndromic Diarrhea
Hepatomegaly, Splenomegaly, Renal hypoplasia, Hypoplasia of the thymus, Polycystic kidney dysplas... ORPHA:84064
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Aggressive behavior,... ORPHA:261494
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Femoral-Facial Syndrome
Renal agenesis, Abnormal renal collecting system morphology, Maternal diabetes, Cryptorchidism, H... OMIM:134780
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... ORPHA:2973
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... ORPHA:3109
Pseudotrisomy 13 Syndrome
Renal agenesis, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micropenis OMIM:264480
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, Choreoathetosis, 3-Methylglutaconic aciduria, ... ORPHA:445038
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... ORPHA:110
Roberts Syndrome
Cryptorchidism, Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia ORPHA:3103
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, ... OMIM:601186
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Familial Renal Glucosuria
Recurrent urinary tract infections, Insulin resistance, Abnormal circulating insulin concentratio... ORPHA:69076
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Tip-toe gait, Enlarged kidney OMIM:252500
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ... OMIM:300707
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... ORPHA:3404
Coach Syndrome 1
Hepatomegaly, Ataxia, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cys... OMIM:216360
Cardiac-Urogenital Syndrome
Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Patent urachus... OMIM:618280
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Trisomy 13
Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea... ORPHA:3378
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Ren... ORPHA:85450
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst ORPHA:480536
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:899
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Microcephaly, Cryptorchi... ORPHA:2166
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Bicornuate uterus, Labial ... ORPHA:140952
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Thyroid hemiagenesis, Hypospadias, Ataxia,... ORPHA:209905
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Pallister-Hall Syndrome
Renal dysplasia, Decreased testicular size, Thyroid dysgenesis, Hydroureter, Decreased circulatin... OMIM:146510
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Citrullinemia Type Ii
Restlessness, Hyperactivity, Hepatomegaly, Aggressive behavior, Abnormal eating behavior, Delayed... ORPHA:247585
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell car... ORPHA:2869
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Enlarged kidney, Cardiomegaly OMIM:261740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Agyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyr... OMIM:614643
Tuberous Sclerosis 1
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Attention deficit hyperac... OMIM:191100
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pituitary hypoplasi... ORPHA:464311
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Urethral atresia, Ad... OMIM:273395
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Glucose intolerance, Fasting hypoglycemia, Abnormal salivary gland morp... ORPHA:2298
Caroli Syndrome
Hepatomegaly, Abnormal ductus choledochus morphology, Abnormality of the kidney, Polycystic kidne... ORPHA:480520
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Proximal tubulopathy, Renal cyst, Hyperinsulinemic hypoglycemia OMIM:602579
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl... ORPHA:2059
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uterus, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Renal malrotation, Decreased response to growth hormone stimulation tes... OMIM:615866
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgen... OMIM:618820
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchid... ORPHA:464306
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ... ORPHA:363444
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Ataxia, Reduced renal corticomedullary differentiation, Emotional lability, Hypere... OMIM:620047
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Renal cyst, Micropenis, Self-mutilation, Penoscrotal hypospadias, H... OMIM:270400
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Hypospadias, Aggressive behavior, Cryptorchidism, Hypoplastic labia minora, Abs... ORPHA:495875
Joubert Syndrome 14
Irritability, Ataxia, Renal cyst OMIM:614424
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2211
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Renal Agenesis
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... ORPHA:411709
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Cryptorchidism, Abnormal renal morphology, Pancreatic lymphangiectasi... ORPHA:1655
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, Gait disturbance, ... ORPHA:261349
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Abnormality of the urinary system, ... ORPHA:2745
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... OMIM:613254
Microsporidiosis
Anorexia, Abnormality of the parathyroid gland, Urethritis, Thyroiditis, Abnormal endometrium mor... ORPHA:2552
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Absent septum pellucidum, Ovotestis, Microcephaly, Junctional ectopic tachycardia, H... OMIM:309801
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Primary adrenal insuffic... ORPHA:912
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Micropenis OMIM:210710
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef... OMIM:615849
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Compulsive behaviors, Attention deficit hyper... ORPHA:1001
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Ataxia, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Joubert Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Renal cyst, Nephropathy, Self-mutilation OMIM:213300
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Cystic Echinococcosis
Hepatomegaly, Abnormality of the testis size, Renal cyst, Ovarian cyst, Membranous nephropathy, H... ORPHA:400
Limb-Mammary Syndrome
Absent nipple, Cleft hard palate, Cleft lip, Primary amenorrhea, Cleft palate, Bilateral breast h... ORPHA:69085
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Premature ovarian insufficiency, Proteinuria, Ataxia, Hypergonadotropic hypogonadis... OMIM:212065
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys, Renal hypoplasia/aplasia ORPHA:958
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horseshoe kidney ORPHA:166035
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dy... ORPHA:2075
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:35107
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Holoprosencephaly 9
Abnormal cortical gyration, Decreased response to growth hormone stimulation test, Anterior pitui... OMIM:610829
Currarino Syndrome
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Septate vagina, Hor... OMIM:176450
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... OMIM:122470
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria ORPHA:2239
Trisomy 1Q
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Congenital megaureter, Ambiguous gen... ORPHA:261344
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Multicystic kidney dysplasia, Abnormal repetitive mannerisms, Attention deficit ... ORPHA:261197
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ... OMIM:618454
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Bicornuate uterus, Proteinuria OMIM:222448
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Multiple renal cysts, Abn... ORPHA:99776
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Renal hypoplasia, Breast aplasia, Hypop... ORPHA:3138
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro... ORPHA:2473
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate... ORPHA:49
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Dysphagia, ... OMIM:610217
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney OMIM:306955
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Polymicrogyria, Type II lissencephaly ORPHA:370959
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Crypto... ORPHA:96121
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Hypoplasia of the uter... OMIM:618419
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Irritability, Diaminoaciduria, Oroticaciduria, Spastic gait OMIM:207800
Axial Osteomalacia
Renal cyst OMIM:109130
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c... OMIM:257300
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... ORPHA:84
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Horseshoe kidney, Bicornuate uter... OMIM:268300
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Epispadias, Partial agenesis of the corpus... OMIM:615948
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Rhombencephalosynapsis
Abnormal renal morphology, Ataxia, Abnormality of the uterus ORPHA:59315
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:424
Alobar Holoprosencephaly
Median cleft lip, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocepha... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocepha... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocepha... ORPHA:93924
Semilobar Holoprosencephaly
Median cleft lip, Decreased response to growth hormone stimulation test, Microcephaly, Hydrocepha... ORPHA:220386
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic... OMIM:312870
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormal morphology of female internal ge... ORPHA:991
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Streak ovary, Hypospadias, Aganglionic megacolon, Failure to thrive in... ORPHA:798
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft lip, Dental malocclusion, Prima... OMIM:603457
Joubert Syndrome 2
Renal insufficiency, Ataxia, Renal cyst, Nephronophthisis, Hypoplastic male external genitalia OMIM:608091
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia ORPHA:255138
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypothyroidism OMIM:618829
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Renal agenesis, Hypospadias, Cryp... OMIM:229850
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Attention deficit hyperactivi... OMIM:614083
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... OMIM:609152
Neu-Laxova Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2671
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy ORPHA:85201
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic labia minora, Splenopancr... OMIM:269150
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia ORPHA:3301
Norrie Disease
Diabetes mellitus, Cryptorchidism, Irritability, Self-injurious behavior, Uterine rupture, Attent... ORPHA:649
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Renal insufficiency, Diabetes mellitus, Proteinuria, Ataxia, De... ORPHA:699
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Bile duct proliferation OMIM:607361
Hartsfield Syndrome
Median cleft lip, Hypospadias, Cleft upper lip, Alobar holoprosencephaly, Cryptorchidism, Microce... OMIM:615465
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Hyperactivity, Aplasia of the vagina, Unilateral renal agenesis ORPHA:457284
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E... OMIM:227650
Histiocytoid Cardiomyopathy
Hepatomegaly, Hypoglycemia, Cardiomegaly, Renal cyst, Polycystic ovaries, Lethargy ORPHA:137675
Townes-Brocks Syndrome 1
Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re... OMIM:107480
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c... OMIM:193300
Attenuated Familial Adenomatous Polyposis
Uterine leiomyoma, Multiple renal cysts, Thyroid adenoma ORPHA:220460
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus, Renal hypoplasia/aplasia ORPHA:1788
Galloway-Mowat Syndrome
Pachygyria, Abnormality of neuronal migration ORPHA:2065
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryptorchidism, Re... ORPHA:2052
Thrombocytopenia-Absent Radius Syndrome
Axial malrotation of the kidney, Aplasia of the uterus, Abnormality of the kidney, Horseshoe kidney ORPHA:3320
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Joubert Syndrome
Polymicrogyria, Abnormality of neuronal migration ORPHA:475
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Urinary incontinence, Akinesia, Phonic tics, Depression, Choreoathetosis, ... OMIM:234200
Bartsocas-Papas Syndrome 1
Ectopic kidney, Bilateral cryptorchidism, Absent external genitalia, Hypoplastic labia majora, Bi... OMIM:263650
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, A... ORPHA:534
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Splenomegaly, Gait distu... ORPHA:1454
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Dysphagia, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality... ORPHA:369837
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern OMIM:615219
Campomelia, Cumming Type
Pancreatic cysts, Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hepatomegaly, Renal cyst ORPHA:79303
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Hypothyroidism, Poly... ORPHA:1606
Alveolar Echinococcosis
Ataxia, Pancreatic cysts, Renal cyst, Abnormal adrenal morphology, Abnormal bladder morphology, H... ORPHA:284
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... OMIM:267010
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Chiari Malformation Type Ii
Gray matter heterotopia OMIM:207950
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst ORPHA:1692
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Renal cyst, Attention deficit hyperactivity disorder, Vesicoureteral... OMIM:616975
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Decreased response to growth hormone stimulation test, Unilateral renal agenesi... OMIM:619503
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Joubert Syndrome 21
Ataxia, Splenomegaly, Renal cyst, Dysphagia, Hyperechogenic kidneys OMIM:615636
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Premature ovarian insufficiency, Failure to thrive in infancy, Female infe... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Premature ovarian insufficiency, Failure to thrive in infancy, Female infe... ORPHA:99228
Monosomy X
Prolonged QT interval, Premature ovarian insufficiency, Failure to thrive in infancy, Female infe... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Premature ovarian insufficiency, Failure to thrive in infancy, Female infe... ORPHA:881
Radio-Tartaglia Syndrome
Gray matter heterotopia OMIM:619312
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Ataxia, Abnormality of the kidney, Follicular t... ORPHA:201
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Cryptorchidism, Renal hypoplasia, Renal cyst OMIM:616300
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Fraser Syndrome 1
Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia, Abnormal thymus morpholo... OMIM:219000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior,... ORPHA:353281
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Pancreatic fibrosis, Pancreatic cysts, Chronic kidney disease, ... OMIM:208500
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Dysphagia, Vesicoureteral reflux, Abnormal s... ORPHA:2363
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina OMIM:617925
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria OMIM:619775
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Okamoto Syndrome
Urinary incontinence, Bifid uterus, Splenomegaly, Unilateral renal hypoplasia, Ureteropelvic junc... ORPHA:2729
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Hepatomegaly, Ataxia, Pancreatic cysts, Stage 5 chronic kidney disease, Ren... OMIM:266920
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Imperforate hymen, Bic... OMIM:181450
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Unsteady gait, Multiple renal cysts OMIM:618733
D-Bifunctional Protein Deficiency
Hepatomegaly, Splenomegaly, Primary adrenal insufficiency, Renal cyst, Bile duct proliferation OMIM:261515
Williams Syndrome
Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Dysmetria, Nephrocalci... ORPHA:904
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor... ORPHA:818
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe k... ORPHA:2538
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Micropenis, Paroxysma... ORPHA:672
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Uterine prolapse, Abnormality of the endocrine system, Inability to walk, Crypt... ORPHA:438213
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus... ORPHA:93271
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia OMIM:619833
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Renal dysplasia, Renal cyst OMIM:617260
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, ... ORPHA:857
Distal Deletion 15Q
Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorc... ORPHA:1596
Trisomy 10P
Absent gallbladder, Abnormality of the kidney, Multiple renal cysts, Rectovaginal fistula, Dysphagia ORPHA:171929
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Bicornuate u... OMIM:265380
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Hyperactivity, Cryptorch... ORPHA:3310
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... ORPHA:709
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Ab... ORPHA:538
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Multiple renal cysts ORPHA:1190
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus, Unilateral renal agenesis OMIM:154400
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst, Hepatomegaly OMIM:601539
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration ORPHA:261236
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria OMIM:620024
Jacobsen Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Attention deficit hyperactivity disorder, Annular p... ORPHA:2308
Robinow Syndrome
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, External... ORPHA:97360
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi... ORPHA:199
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration, Periventricular heter... ORPHA:75857
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia OMIM:618929
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Pancreatic cysts, Dilatation of the renal pelvis, Horses... OMIM:274000
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Vaginal neoplasm, Ambiguous genitalia, Nephroblastoma, Hypothyroidism ORPHA:1052
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Diabetes mellitus, Premature ovarian insuff... ORPHA:125
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... ORPHA:353277
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Aggressive behavior, Cryptorchidism, Renal hypoplasia, ... OMIM:135900
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:214100
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypopl... OMIM:606170
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per... ORPHA:98889
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Hypoplastic fe... ORPHA:1507
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Peters-Plus Syndrome
Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism... OMIM:261540
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lissencephaly, Polymicrogyria ORPHA:468631
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia OMIM:618476
Cerebrofacioarticular Syndrome
Gray matter heterotopia ORPHA:314679
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Hypothyroidism ORPHA:1556
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ataxia, Pancreatic cysts, Hydrone... ORPHA:2750
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Cranioectodermal Dysplasia 2
Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Bile duct proliferation, Left ventri... OMIM:613610
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Holoprosencephaly
Abnormality of neuronal migration ORPHA:2162
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Splenomegaly, Multiple renal cysts, Delayed puberty ORPHA:955
Opitz-Kaveggia Syndrome
Gray matter heterotopia OMIM:305450
Aicardi Syndrome
Gray matter heterotopia, Pachygyria, Polymicrogyria OMIM:304050
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t... ORPHA:744
Mowat-Wilson Syndrome
Bifid scrotum, Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidn... ORPHA:2152
C Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Female ... ORPHA:1308
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ... ORPHA:286
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Multicystic kidney dysplasia, Broad-based gait, Hypospadias, Urinary incontinence,... ORPHA:261537
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia OMIM:619895
Wolf-Hirschhorn Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus, Abnormal repetitive manne... OMIM:194190
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Vici Syndrome
Gray matter heterotopia OMIM:242840
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Multicystic kidney dysplasia, Broad-based gait, Hypospadias, Urinary incontinence,... ORPHA:261552
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia ORPHA:352665
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Ectopic thymus tissue OMIM:113620
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Bladder diverticulum, Cervical insufficiency ORPHA:287
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Pmm2-Cdg
Proteinuria, Ataxia, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentra... ORPHA:79318
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Supernumerary nipple, Inability to walk, Cryptorchidism, Renal cyst, ... OMIM:601803
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Cryptorchid... OMIM:308205
Aneurysm-Osteoarthritis Syndrome
Left ventricular hypertrophy, Uterine prolapse, Abnormal bladder morphology ORPHA:284984
Cystic Fibrosis
Male infertility, Hepatomegaly, Hypercalciuria, Hepatosplenomegaly OMIM:219700
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Loeys-Dietz Syndrome 3
Left ventricular hypertrophy, Uterine prolapse, Cystocele OMIM:613795
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... 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 Efna5

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 Efna5.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Target-independent ephrina/EphA-mediated axon-axon repulsion as a novel element in retinocollicular mapping. Neuron (October 2014) Efna5tm1c(EUCOMM)Wtsi Efna5tm1a(EUCOMM)Wtsi PMC4250266

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
Efna5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Efna5tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Efna5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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