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

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lacZ Expression

Expression data not available

Associated Images

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

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
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia OMIM:615411
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria OMIM:615752
Lissencephaly 1
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia OMIM:607432
Microlissencephaly
Polymicrogyria, Simplified gyral pattern, Subcortical heterotopia, Pachygyria, Lissencephaly, Per... ORPHA:1083
Polycystic Kidney Disease 5
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... OMIM:617610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Gonadal dysgenesis, Neural tube defect, Type II lissencephaly OMIM:615041
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypoglycemia, Hypospadias OMIM:201910
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Lissencephaly, X-Linked, 1
Agyria, Lissencephaly, Pachygyria, Gray matter heterotopia OMIM:300067
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia ORPHA:101029
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Anencephaly 2
Median cleft palate, Cleft maxillary alveolar ridge, Median cleft lip, Anencephaly OMIM:619452
Schisis Association
Encephalocele, Anal atresia, Small for gestational age, Spina bifida, Unilateral cleft lip, Anenc... ORPHA:63862
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Distal Deletion 13Q
Encephalocele, Anal atresia, Ambiguous genitalia, Holoprosencephaly, Anencephaly, Microcephaly, A... ORPHA:1590
Hydrolethalus
Cryptorchidism, Bifid uvula, Hydrocephalus, Unilateral cleft lip, Absent septum pellucidum, Submu... ORPHA:2189
Lissencephaly 3
Polymicrogyria, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Periventricular lamin... OMIM:611603
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Acth-Independent Macronodular Adrenal Hyperplasia
Emotional lability, Adrenal hyperplasia, Agitation, Increased circulating cortisol level, Anxiety... OMIM:219080
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Cleft palate, Anencephaly, Ectopic anus, Non-midline cleft lip ORPHA:2476
Joubert Syndrome 13
Pachygyria OMIM:614173
Diprosopus
Cleft palate, Non-midline cleft lip, Anencephaly ORPHA:1681
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Neonatal hypoglycemia, Premature adrenarche,... ORPHA:90791
Craniotelencephalic Dysplasia
Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Lissencephaly, Microcephaly, Cerebel... ORPHA:1528
Craniotelencephalic Dysplasia
Frontal encephalocele, Absent septum pellucidum, Optic nerve hypoplasia, Lissencephaly, Cerebella... OMIM:218670
RCAD (renal cysts and diabetes)
Diabetes mellitus, Multiple renal cysts DECIPHER:47
Meckel Syndrome, Type 10
Micropenis, Bifid uvula, Occipital encephalocele, Anencephaly, Cleft palate, Cerebellar hypoplasi... OMIM:614175
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Emotional lability, Adrenal hyperplasia, Abnormal libido, Diabetes mellitus, Increased circulatin... ORPHA:189439
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Decreased circulating ACTH level, Hyperglycemia, Macronodul... OMIM:615954
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Hydrolethalus Syndrome 2
Cleft palate, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level,... OMIM:615830
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency, Anencephaly ORPHA:1048
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged kidney, Polycystic ovaries, Insulin r... ORPHA:90301
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Bile duct proliferation... OMIM:611134
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Hydranencephaly, Cerebellar agenesis, Holoprosencephaly, Cerebellar hypoplasia, Da... OMIM:617967
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Ambiguous genitalia, Primary amenorrhea, Adrenogenital syndrome, Male pseudo... OMIM:202110
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Arrhinencephaly, Agenesis of corpus callosum OMIM:300073
49,Xxxxy Syndrome
Decreased testicular size, Cryptorchidism, Hypogonadism, Pulmonary embolism, Holoprosencephaly, T... ORPHA:96264
Neural Tube Defects, Susceptibility To
Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:182940
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly, Cle... ORPHA:1908
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Emotional lability, Abnormal libido, Hyperaldosteronism, Renal cell carcinoma, Abnormal response ... ORPHA:189427
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Microcephaly, Small for gestational age, Cryptorchidism, Irregular den... OMIM:619148
Hyperparathyroidism 2 With Jaw Tumors
Polycystic kidney dysplasia, Renal cortical adenoma, Parathyroid carcinoma, Papillary renal cell ... OMIM:145001
Renal Hypodysplasia/Aplasia 3
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Abnormality of the uterus, Vesicoureteral refl... OMIM:617805
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Microcephaly 20, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Hypoplasia of the uterus, Optic nerve hypoplasia, V... OMIM:617914
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate, Microcephaly, Hydranencephaly OMIM:601355
Meckel Syndrome, Type 5
Bile duct proliferation, Occipital encephalocele, Cleft palate, Anencephaly, Cleft upper lip OMIM:611561
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Bile duct proliferation, Anencephaly, Cleft palate, Intestinal malrot... OMIM:603194
Nephronophthisis 16
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Renal insufficiency... OMIM:615382
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Joubert Syndrome 18
Agenesis of cerebellar vermis, Occipital encephalocele, Cleft palate, Lobulated tongue, Arrhinenc... OMIM:614815
Meckel Syndrome 12
Agenesis of cerebellar vermis, Bifid uvula, Hypoplasia of the uterus, Vaginal atresia, Microcepha... OMIM:616258
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Reduced progressive sperm motility, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Immunodeficiency, Common Variable, 6
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... OMIM:613496
Generalized Glucocorticoid Resistance Syndrome
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Incre... ORPHA:786
Hartnup Disorder
Emotional lability, Neutral hyperaminoaciduria, Hyperactivity, Attention deficit hyperactivity di... OMIM:234500
Bardet-Biedl Syndrome 16
Stage 5 chronic kidney disease, Hypogonadism, Renal cyst, External genital hypoplasia, Renal insu... OMIM:615993
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Abnormality of the urinary system, Adrenogenital syndrom... OMIM:103900
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Perineal hypospadias, Adrenal hyperplasia, Impaired cortisol response to corticotropin releasing ... OMIM:201810
Spermatogenic Failure 65
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619712
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hyperaldosteronism, Abnormal circulating renin, Athetosis, Polydipsia, Nephr... ORPHA:369929
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Hyperechogenic kidneys, Ambiguous genitalia, Enlarged kidney OMIM:613885
Congenital Megacalycosis
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... ORPHA:93109
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Decreased te... OMIM:202010
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Neonatal death, Stillbirth, Hypoplasia of the brainstem, Cerebellar hypoplasia, ... OMIM:236500
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... OMIM:620056
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Simplified gyral pattern, Gray matter heterotopia, Pachygyria, Lissencephaly, Abn... OMIM:604317
Trisomy X
Anxiety, Attention deficit hyperactivity disorder, Renal hypoplasia/aplasia, Secondary amenorrhea... ORPHA:3375
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hypercalciuria, Po... ORPHA:251274
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Irritability, Impulsivity, Lethargy, Aggressive behavior, Hyperglyci... OMIM:605899
Chudley-Mccullough Syndrome
Polymicrogyria, Gray matter heterotopia OMIM:604213
Spermatogenic Failure 56
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619515
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Polydipsia, Secretory adrenocortical adenoma, De... ORPHA:403
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Hypercalciuria, Polydipsia, Polyuria, Decreased circulat... OMIM:613677
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Holoprosencephaly, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Aplasia/H... ORPHA:2570
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Parathyroid hypoplasia, Diabetes mellitus, Hypoparat... ORPHA:2237
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... ORPHA:98797
Meckel Syndrome 13
Polycystic kidney dysplasia, Ataxia OMIM:617562
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Increased circulating ACTH level, Decreased circulating cortisol level, Fema... ORPHA:90790
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... ORPHA:529970
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Renal dysplasia, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus... ORPHA:2578
Microhydranencephaly
Hydranencephaly, Pachygyria, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the brainstem, Ag... OMIM:605013
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... ORPHA:98798
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Enlarged kid... ORPHA:85445
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... OMIM:301059
Familial Hyperprolactinemia
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst ORPHA:397685
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum testosterone concentration, Primary amenorrhea, Gonadal dysgenesis with female ap... ORPHA:168563
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Dysmenorrhea, Dyspareunia, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix m... ORPHA:3411
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Dysgyria, Gray matter heterotopia ORPHA:352682
Vacterl/Vater Association
Anal atresia, Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genital... ORPHA:887
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Hepatorenocardiac Degenerative Fibrosis
Hepatosplenomegaly, Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corti... OMIM:619902
Denys-Drash Syndrome
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Ambiguous genitalia... OMIM:194080
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 54
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... OMIM:619379
Spermatogenic Failure 58
Immotile sperm, Reduced progressive sperm motility, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polymicrogyria, Hydrocephalus, Hydranencephaly, Cleft palate, Hypoplasia of the brainstem, Microc... OMIM:225790
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Increased size of the clitoris, Ambiguous genitalia, Primary amenorrhea, Fused l... ORPHA:95699
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Hypoparathyroidism, Decreased circulating aldosterone level, Increased circu... ORPHA:3453
Spermatogenic Failure 39
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618643
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Maternal diabetes, Cryptorchidism, Renal hypoplasia/aplasia, Long pe... ORPHA:1988
Renal Dysplasia
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... ORPHA:93108
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:404
Spermatogenic Failure 50
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Meckel Syndrome, Type 6
Hydrocephalus, Bile duct proliferation, Occipital encephalocele, Abnormal internal genitalia, Ane... OMIM:612284
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Hydroxyprolinuria, Prolinuria, Aggressive behavior, Hyperglycinuria OMIM:239500
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Cryptorchidism, External genital hypoplasia, Hypogonadism, Renal cyst OMIM:615982
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Trisomy 18
Esophageal atresia, Cryptorchidism, Anal atresia, Abnormal morphology of female internal genitali... ORPHA:3380
Classic Galactosemia
Oligomenorrhea, Delayed puberty, Decreased fertility in females, Cryptorchidism, Gait disturbance... ORPHA:79239
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... OMIM:263200
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 79
Coiled sperm flagella, Oligospermia, Male infertility, Reduced sperm motility OMIM:620196
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 7
Immotile sperm, Oligospermia, Male infertility, Reduced sperm motility OMIM:612997
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Decreased gl... ORPHA:730
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Increased urinary potassium, Polydipsia, Glucocortocoid-insensitive primary ... ORPHA:231580
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Nephronophthisis 2
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... OMIM:602088
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly, Cleft palate, Non-midline cleft lip, Absent gallbladde... ORPHA:1335
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Premature Ovarian Failure 7
Premature ovarian insufficiency, Primary amenorrhea, Clitoral hypertrophy, Elevated circulating f... OMIM:612964
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proximal renal tubular acidosis, Proteinuria, Unilateral renal dysplasia, Nephrocalcinosis, Chron... OMIM:146255
Rudiger Syndrome
Ovarian cyst, Micropenis, Ureterovesical stenosis, Bicornuate uterus OMIM:268650
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... OMIM:601331
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus, Male hypogonadism, Decreased serum... ORPHA:432
Pandas
Enuresis, Abnormal fear/anxiety-related behavior, Agoraphobia, Emotional lability, Claustrophobia... ORPHA:66624
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Ambiguous genitalia, Hydranencephaly, Hydrocephalus, Spina bifida... ORPHA:2839
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Morm Syndrome
Hyperactivity, Abnormality of the kidney, Aggressive behavior, Micropenis ORPHA:75858
Caudal Regression Syndrome
Anal atresia, Cryptorchidism, Ambiguous genitalia, Hypertension, Arrhinencephaly, Orofacial cleft ORPHA:3027
Orofaciodigital Syndrome Vi
Polymicrogyria, High palate, Incomplete cleft of the upper lip, Porencephalic cyst, Cleft palate,... OMIM:277170
Joubert Syndrome 20
Inability to walk, Self-mutilation, Aggressive behavior, Renal cyst OMIM:614970
Familial Peripheral Male-Limited Precocious Puberty
Attention deficit hyperactivity disorder, Male infertility, Long penis, Macroorchidism, Oligosper... ORPHA:3000
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Decreased glomerular filtration rate... OMIM:618061
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Bicornuate uterus OMIM:263210
Tuberous Sclerosis Complex
Polycystic kidney dysplasia, Abnormality of the kidney, Depression, Hepatic cysts, Renal angiomyo... ORPHA:805
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Abnormal aggre... ORPHA:3077
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polymicrogyria, Micropenis, Hydrocephalus, Accessory oral frenulum, Anencephaly, Occipital mening... OMIM:616546
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Decreased serum testosterone concentrat... OMIM:273250
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testosterone level, Hydroce... ORPHA:96181
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Abnormality of the kidney, Diabetes mellitus, Ureteropelvic junction o... OMIM:137920
Nephronophthisis 20
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... OMIM:617271
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Gray matter heterotopia OMIM:600348
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... OMIM:614841
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic ... OMIM:618078
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Hypoplasia of the uterus, Azoospermia, Bicornuate uter... OMIM:601076
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Renal insufficiency, Nonketotic hyp... OMIM:608836
Diethylstilbestrol Syndrome
Decreased fertility in females, Cryptorchidism, Premature ovarian insufficiency, Micropenis, Abno... ORPHA:1916
Cushing Disease
Emotional lability, Adrenal hyperplasia, Increased circulating ACTH level, Impaired glucose toler... ORPHA:96253
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Penoscrotal hypospadias, Ambiguous genitalia, Cli... OMIM:612965
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis, Obstructive azoospermia, Spermatocele, Male infertility OMIM:301060
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Hypoplasia of the uterus, Cleft palate, Abnormal va... ORPHA:247768
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Acrofacial Dysostosis, Rodríguez Type
Arrhinencephaly, Aqueductal stenosis, Abnormality of the uterus ORPHA:1788
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... OMIM:617442
Fryns Syndrome
Cleft palate, Cleft upper lip, Esophageal atresia, Cryptorchidism, Ectopic pancreatic tissue, Hyp... OMIM:229850
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Decreased testicular size, Agenesis of cerebellar vermis, Micropenis, Hydr... OMIM:615287
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... OMIM:618117
Ovarian Dysgenesis 9
Delayed puberty, Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulatio... OMIM:619665
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bicornuate uterus, Bifid uvula, Hydrocephalus OMIM:258320
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Phenylketonuria
Increased level of hippuric acid in urine, Self-mutilation, Hyperactivity, Anxiety, Attention def... OMIM:261600
Cerebrocostomandibular Syndrome
Myelomeningocele, Meningocele, Hydranencephaly, Spina bifida, Short hard palate, Porencephalic cy... ORPHA:1393
Meckel Syndrome
Encephalocele, Cryptorchidism, Aplasia/Hypoplasia of the tongue, Ambiguous genitalia, Hydrocephal... ORPHA:564
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Hydrocephalus, Median cleft lip and palate, Hypoplastic nipples, Holoprosenc... OMIM:269860
Multiple Acyl-Coa Dehydrogenase Deficiency
Polycystic kidney dysplasia, Renal cortical cysts, Glycosuria, Hepatomegaly, Glutaric aciduria, P... OMIM:231680
Estrogen Resistance
Delayed puberty, Impaired glucose tolerance, Increased circulating osteocalcin level, Primary ame... OMIM:615363
Craniorachischisis
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Anal atresia, Myelomeningocele, Anencephaly ORPHA:63260
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
Perrault Syndrome 4
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... OMIM:615300
Leydig Cell Hypoplasia
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:755
Meckel Syndrome, Type 1
Occipital encephalocele, Cleft palate, Smooth philtrum, Microcephaly, Cerebellar hypoplasia, Cere... OMIM:249000
Multiple Acyl-Coa Dehydrogenase Deficiency
Polycystic kidney dysplasia, Inability to walk, Hepatomegaly, Glutaric aciduria, Dysphagia, Lacti... ORPHA:26791
Cushing Syndrome Due To Ectopic Acth Secretion
Diabetes mellitus, Increased circulating cortisol level, Medullary thyroid carcinoma, Increased u... ORPHA:99889
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... OMIM:614837
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity, Increased urinary disaccharide excretion OMIM:248510
Iniencephaly
Encephalocele, Spinal dysraphism, Anal atresia, Duodenal atresia, Myelomeningocele, Spina bifida,... ORPHA:63259
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,... ORPHA:2975
Thoracoabdominal Syndrome
Hydrocephalus, Cleft palate, Anencephaly, Cleft upper lip, Hypospadias OMIM:313850
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, ... OMIM:613095
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Polycystic kidney dysplasia, Hepatomegaly OMIM:608776
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Neonatal hypoglycemia, Cryptorchidism, Adrenocortical cytomegaly, Nephrocal... OMIM:130650
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Premature Ovarian Failure 18
Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulation, Premature ovar... OMIM:619203
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Cryptorchidism, Abnormal morphology of... ORPHA:754
Ring Chromosome 13 Syndrome
Anal atresia, High palate, Micropenis, Ambiguous genitalia, Hypoplasia of the gallbladder, Urogen... ORPHA:96176
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Anxiety, Ataxia OMIM:618970
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Cryptorchidism, Hydrometrocolpos, Hydroureter, Trans... OMIM:236700
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Polycystic kidney dysplasia, Cryptorchidism, Clitoral hypertrophy, Hepa... OMIM:214110
Distal Triplication 15Q
Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the kidney, Dilatation of the renal p... ORPHA:314588
Juvenile Huntington Disease
Progressive cerebellar ataxia, Hyperactivity, Ataxia, Irritability, Bradykinesia, Gait ataxia, De... ORPHA:248111
Bardet-Biedl Syndrome 6
External genital hypoplasia, Renal cyst, Diabetes mellitus, Vaginal atresia, Hypospadias OMIM:605231
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Gonadoblastoma, Renal insufficiency, Nephropathy, Streak ovary, Abnormality of th... OMIM:194072
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Vacterl With Hydrocephalus
Esophageal atresia, Cryptorchidism, Anal atresia, Hydrocephalus, Spina bifida, Tracheoesophageal ... ORPHA:3412
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Post-partum hemorrhage, I... ORPHA:327
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity, Agitation OMIM:309548
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cleft palate, Narrow mouth, Microcephaly, Carious teeth, Hypothyroidism, Chol... ORPHA:567
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... ORPHA:251510
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Adrenal gland dysgenesis, Absent septum pellucidum, Anencephaly, Clef... OMIM:236680
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity, Agitation ORPHA:100973
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Increased level of gamma-aminobutyric acid in urine, Ataxia, Anxiety, Self-injurio... OMIM:271980
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Ovarian Dysgenesis 5
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:617690
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Landau-Kleffner Syndrome
Emotional lability, Hyperactivity, Steppage gait, Anxiety, Attention deficit hyperactivity disord... ORPHA:98818
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... ORPHA:983
Estrogen Resistance Syndrome
Primary amenorrhea, Breast hypoplasia, Hypoplasia of the uterus, Hyperinsulinemia, Glucose intole... ORPHA:785
Trisomy 17P
Polycystic kidney dysplasia, Hydronephrosis, Hypoplasia of penis, Urethral valve, Urethral stenosis ORPHA:261290
X-Linked Adrenoleukodystrophy
Increased circulating ACTH level, Gait disturbance, Hyperactivity, Neurogenic bladder, Disinhibit... ORPHA:43
Complete Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Increased serum testosterone level, Ab... ORPHA:99429
Cousin Syndrome
Hydrocephalus, Ambiguous genitalia, male, Hydranencephaly, Cleft palate, Microglossia, Alveolar r... OMIM:260660
Fowler Urethral Sphincter Dysfunction Syndrome
Oligomenorrhea, Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Amenorrhea ORPHA:2795
Branchiootorenal Syndrome 1
Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Unilateral renal agenes... OMIM:113650
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the uterus, Microcephaly, Abnorm... ORPHA:3130
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Lennox-Gastaut Syndrome
Aggressive behavior, Personality disorder, Hyperactivity, Falls ORPHA:2382
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Renal cell carcinoma, Horseshoe kidney, Renal Fanconi syndro... ORPHA:93111
Lissencephaly 6 With Microcephaly
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... OMIM:616212
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Anxiety, Aggressive behavior, Hyperactivity OMIM:609425
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Gray matter heterotopia, Pachygyria, Lissencephaly, Perisylvian polymicrogyria ORPHA:300573
Carnitine Palmitoyltransferase Ii Deficiency
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hepato... ORPHA:157
Ovarian Fibrothecoma
Abnormal endometrium morphology, Abnormality of the ovary, Gonadal calcification, Metrorrhagia, O... ORPHA:314478
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... OMIM:618270
Renal-Hepatic-Pancreatic Dysplasia 1
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Ureteral atresia, R... OMIM:208540
Prune Belly Syndrome
Recurrent urinary tract infections, Decreased testicular size, Cryptorchidism, Hydroureter, Abnor... ORPHA:2970
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Renal cyst, Hypospadias OMIM:614091
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft palate, Cryptorchidism, Hypogonadotropic hypogonadism, Cleft lip OMIM:612370
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Microphthalmia With Limb Anomalies
High palate, Cryptorchidism, Hydrocephalus, Cleft palate, Macrodontia, Failure to thrive, Long ph... ORPHA:1106
Caudal Duplication
Cryptorchidism, Ureteral duplication, Renal hypoplasia/aplasia, Abnormal penis morphology, Uterus... ORPHA:1756
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... ORPHA:90796
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spinal dysraphism, Spina bifida ORPHA:3176
Leprechaunism
Fasting hypoglycemia, Hyperaldosteronism, Nephrocalcinosis, Enlarged kidney, Central hypothyroidi... ORPHA:508
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Small pituitary gland,... OMIM:614880
Phelan-Mcdermid Syndrome
Polycystic kidney dysplasia, Abnormality of the kidney, Unsteady gait, Vesicoureteral reflux, Agg... OMIM:606232
Obsolete: Early-Onset Schizophrenia
Emotional lability, Polyphagia, Impairment in personality functioning, Suicidal ideation, Abnorma... ORPHA:96369
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Hyperactivity, Progressive cerebellar ataxia, Unsteady gait, Bipolar affective di... ORPHA:485350
Perrault Syndrome 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:614129
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Nephrolithiasis, Aggressive behavior, ... OMIM:620023
Lissencephaly 5
Type II lissencephaly, Subcortical band heterotopia, Gray matter heterotopia OMIM:615191
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polycystic kidney dysplasia, Tubulointerstitial nephritis, Renal insufficiency, Hepatomegaly, Myo... ORPHA:228308
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cortical microcysts, Polycystic kidney dysplasia, Hepatosplenomegaly, Cryptorchidism, Renal... OMIM:614866
Distal Deletion 12Q
Polycystic kidney dysplasia, Hydronephrosis, Self-mutilation, Micropenis, Hyperactivity, Ectopic ... ORPHA:96149
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Esophageal atresia, Anal atresia, Intestinal malrotation, Rectal atre... ORPHA:2538
Glycogen Storage Disease Ia
Fasting hypoglycemia, Delayed puberty, Proteinuria, Enlarged kidney, Decreased glomerular filtrat... OMIM:232200
Yunis-Varon Syndrome
Hypoplasia of the frontal lobes, Short upper lip, Cardiomyopathy, Gingival recession, Thin vermil... ORPHA:3472
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... OMIM:616950
Floating-Harbor Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Dilatation of the renal pelvis, Cryptorchidism, Neph... ORPHA:2044
Renal Hypodysplasia/Aplasia 1
Proteinuria, Primary amenorrhea, Renal dysplasia, Vaginal atresia, Bicornuate uterus, Bilateral r... OMIM:191830
Functioning Gonadotropic Adenoma
Enlarged polycystic ovaries, Hydrocephalus, Pituitary gonadotropic cell adenoma, Decreased female... ORPHA:91348
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Abnormality of the kidney, Hypothyroidism, Hyperglycemia, Transient neonatal d... ORPHA:99886
Neu-Laxova Syndrome 1
Short umbilical cord, Swollen lip, Cryptorchidism, Primary microcephaly, Hydranencephaly, Spina b... OMIM:256520
H Syndrome
Hepatosplenomegaly, Delayed puberty, Decreased testicular size, Abnormality of the kidney, Microp... ORPHA:168569
Doors Syndrome
Ambiguous genitalia, Widely spaced teeth, Cleft palate, Narrow palate, Microcephaly, Broad alveol... ORPHA:79500
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Delayed puberty, Proteinuria, Enlarged kidney, Macroscopic hematuria, Membranoprolife... ORPHA:251004
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Ambiguous genitalia OMIM:614209
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... OMIM:108420
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Proteinuria, Inability to walk, Enlarged kidney, Hepatomegaly, Nephrotic s... OMIM:617303
Amed Syndrome, Digenic
Adrenal hypoplasia, Attention deficit hyperactivity disorder, Hypoplasia of the uterus OMIM:619151
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Athetosis, Self-injurious behavior, Aggressive behavior ORPHA:382
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Arima Syndrome
Polycystic kidney dysplasia, Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, ... OMIM:243910
Intellectual Developmental Disorder, Autosomal Dominant 67
Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity, Hypothyroidism OMIM:619927
Hypoplasminogenemia
Hydrocephalus, Abnormality of the ovary, Periodontitis, Gingival overgrowth, Duodenal ulcer, Ging... ORPHA:722
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Diabetes mellitus, Hepatomegaly, ... OMIM:610199
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Polyphagia, Aggressive behavior, Hyperinsulinemia ORPHA:329249
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Abnormality of the ureter, Unicornuate uterus, Uterus didelphys, Bic... OMIM:200980
Diaphanospondylodysostosis
Enlarged kidney, Horseshoe kidney, Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest OMIM:608022
Type 1 Diabetes Mellitus
Polyphagia, Diabetes mellitus, Hyperglycemia, Polydipsia, Polyuria OMIM:222100
Pallister-Hall Syndrome
Hypopituitarism, Ambiguous genitalia, Bifid uvula, Central adrenal insufficiency, Cleft palate, M... ORPHA:672
Hemimegalencephaly
Polymicrogyria, Pachygyria, Gray matter heterotopia ORPHA:99802
Spermatogenic Failure 77
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... OMIM:620103
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Duplication Of Urethra
Unilateral renal hypoplasia, Coronal hypospadias, Uterus didelphys, Recurrent urinary tract infec... ORPHA:237
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Postprandial hyperglycemia, Clitoral h... OMIM:262190
Mody
Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormality of the kidney, Abnormal circulating ins... ORPHA:552
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypothyroidism, Hypoplasia of penis ORPHA:2491
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Neonatal hypoglycemia, Hypernatriuria, Elevated circulating follicle stimulating... ORPHA:289548
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cryptorchidism, Tooth agenesis, Micropenis, Primary amenorrhea, Cleft palate, Cleft upper lip, Ag... OMIM:147950
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Glycogen Storage Disease Ib
Delayed puberty, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232220
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Micropenis, Primary amenorrhea, Cleft palate, Cleft upper lip, Hypogonadotropic h... OMIM:244200
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Primary ameno... OMIM:158330
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hyperactivity, Broad-based gait, Precocious puberty ORPHA:457260
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Hyperactivity, Hypogonadism, Unilateral renal agenesis, Self-biting, Gonadal dysg... ORPHA:3306
Alg9-Cdg
Hydronephrosis, Hypoplasia of the ovary, Enlarged kidney, Hypoplasia of the bladder, Hypoplastic ... ORPHA:79328
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Emotional lability, Delayed puberty, Decreased testicular size, Cryptorchidism, Micropenis, Hypog... OMIM:300354
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney, Hepatic cysts OMIM:615415
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Proteinuria, Stage 5 chronic kidney disease, Nephrocalcinosis, Enlarged kidney, ... ORPHA:79259
Endocrine-Cerebroosteodysplasia
Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microphallus, Enlarged kidney, Small scr... OMIM:612651
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Neonatal hypoglycemia, Hypernatriuria, Elevated circulating follicle stimulating... ORPHA:168558
Genitopalatocardiac Syndrome
Hypospadias, Gonadal dysgenesis, male, Renal cyst OMIM:231060
Lumbar Syndrome
Cryptorchidism, Renal duplication, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bif... ORPHA:83628
Alg3-Cdg
Macroglossia, High palate, Subcortical cerebral atrophy, Hypoplasia of the pons, Cardiomyopathy, ... ORPHA:79321
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Meckel Syndrome 14
Polycystic kidney dysplasia, Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Gait disturbance ORPHA:3270
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Micropenis, Ambiguous genitalia, Enlarged kidney, Renal dysplasia OMIM:613091
Renal Hypoplasia, Bilateral
Microscopic hematuria, Proteinuria, Cryptorchidism, Glycosuria, Chronic kidney disease, Beta 2-mi... ORPHA:97362
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Multicystic kidney dysplasia, Nephropathy ORPHA:1909
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Ambiguous genitalia, Ataxia, Primary amenorrhea... ORPHA:243
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Progressive cerebellar ataxia, Male infertility ORPHA:276183
46,Xy Sex Reversal 4
Hydronephrosis, Agonadism, Ureteropelvic junction obstruction, Hypoplasia of the uterus, Hypergon... OMIM:154230
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis ORPHA:3033
Graves Disease, Susceptibility To, 1
Polyphagia, Goiter, Graves disease, Hyperactivity, Irritability, Increased circulating free T3, D... OMIM:275000
Limb Body Wall Complex
Encephalocele, Short umbilical cord, Abnormal intestine morphology, Myelomeningocele, Spina bifid... ORPHA:2369
Spermatogenic Failure 38
Abnormal sperm head morphology, Reduced sperm motility, Coiled sperm flagella, Absent sperm flage... OMIM:618433
Gonadoblastoma
Dysgerminoma, Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Abnormality o... ORPHA:206484
Silver-Russell Syndrome Due To A Point Mutation
Dysmenorrhea, Small for gestational age, Cryptorchidism, Microphallus, Cleft palate, Small placen... ORPHA:397590
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hyperactivity, Attention deficit ... ORPHA:8
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Renal hypoplasia, Aplas... OMIM:266810
Transketolase Deficiency
Renal cyst, Attention deficit hyperactivity disorder, Hepatomegaly, Self-injurious behavior, Incr... ORPHA:488618
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Subependymal Nodular Heterotopia
Polymicrogyria, Abnormality of neuronal migration, Gray matter heterotopia ORPHA:101030
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Enlarged kidney, Multiple renal cysts, Hepatomegaly, Hypothyroidism, Nephr... ORPHA:116
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Azoospermia, Ovote... OMIM:400045
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Decreased circulating follicle stimulating hormone concentration, Decre... OMIM:614842
Acalvaria
Abnormality of neuronal migration ORPHA:945
Fanconi Anemia, Complementation Group O
Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney disease, External genital hypoplasia, Rena... OMIM:613390
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Ovarian cyst, Unilateral renal agenesis, Enlarged kidney OMIM:618188
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Postprandial hyperglycemia, Irritability, Ketonuria, Lethargy, Ketotic hypoglycemia ORPHA:2089
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Testicular Agenesis
Absent testis, Micropenis, Ambiguous genitalia, Urethrovaginal fistula, Urogenital sinus anomaly,... ORPHA:325124
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Enlarged kidney, Multiple renal cysts, Metrorrhagia, Pancreatic cysts, Spleno... ORPHA:464329
Vaginal Atresia
Uterus didelphys, Cervicitis, Primary amenorrhea, Imperforate hymen, Transverse vaginal septum, V... ORPHA:65681
Short Rib-Polydactyly Syndrome
Polycystic kidney dysplasia, Abnormality of the kidney, Multiple glomerular cysts, Urogenital sin... ORPHA:1505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Simplified gyral pattern, Periventricular heterotopia OMIM:616171
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Simplified gyral pattern, Periventricular heterotopia OMIM:618273
Meacham Syndrome
Enlarged kidney, Horseshoe kidney, Septate vagina, Bicornuate uterus, Male pseudohermaphroditism,... OMIM:608978
2Q23.1 Microdeletion Syndrome
Polyphagia, Cryptorchidism, Hyperactivity, Ataxia, Hypoplasia of penis, Self-injurious behavior ORPHA:228402
Exstrophy-Epispadias Complex
Abnormality of the kidney, Renal duplication, Horseshoe kidney, Penoscrotal transposition, Cystoc... ORPHA:322
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
46,Xx Sex Reversal 2
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... OMIM:278850
Burkitt Lymphoma
Abnormality of the ovary, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the or... ORPHA:543
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Enuresis nocturna, Polyphagia, Cryptorchidism, Hyperactivity,... OMIM:615873
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cryptorchidism, Cystic renal dysplasia, Hepatomegaly OMIM:613730
Chromosome 17Q12 Deletion Syndrome
Recurrent urinary tract infections, Hydronephrosis, Cryptorchidism, Aplasia of the uterus, Stage ... OMIM:614527
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Secondary amenorrhea, Abnormality of the Leydig cells, Micropenis, Elevated circu... OMIM:228300
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia, Cryptorchidism ORPHA:1166
Aicardi-Goutières Syndrome
Raynaud phenomenon, Degeneration of the striatum, Micropenis, Hypothyroidism, Multifocal cerebral... ORPHA:51
Donnai-Barrow Syndrome
Bicornuate uterus, Proteinuria, Abnormality of the uterus ORPHA:2143
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... OMIM:618086
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Self-mutilation, Aggressive behavior, Hyperactivity OMIM:615516
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Aggressive behavior, Hyperactivity, Ataxia OMIM:612716
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Tyrosinemia, Type I
Nephrocalcinosis, Enlarged kidney, Renal Fanconi syndrome, Renal insufficiency, Pancreatic islet-... OMIM:276700
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney, Hydrocele testis ORPHA:276280
Lipodystrophy, Familial Partial, Type 3
Oligomenorrhea, Maternal diabetes, Primary amenorrhea, Polycystic ovaries, Hyperinsulinemia, Hype... OMIM:604367
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Happy demeanor, Broad-based gait ORPHA:411515
Omodysplasia 2
Cryptorchidism, Micropenis, Dyspareunia, Labial hypoplasia, Clitoral hypoplasia, Uterus didelphys... OMIM:164745
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:615842
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Charge Syndrome
Hypoparathyroidism, Labial hypoplasia, Cleft palate, Microcephaly, Hypothyroidism, Cleft upper li... OMIM:214800
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Dysphagia, Gait ataxia, Aggressive behavior, Impulsivity ORPHA:500180
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, 4-layered lissencephaly, Abnormality of neuronal migration ORPHA:89844
Kallmann Syndrome
Decreased testicular size, Cryptorchidism, Tooth agenesis, Abnormal morphology of female internal... ORPHA:478
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior, Imp... OMIM:620141
Congenital Bilateral Absence Of Vas Deferens
Abnormal renal morphology, Obstructive azoospermia, Absent vas deferens, Male infertility, Oligos... ORPHA:48
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Renal potassium wasting, Self-biting, P... OMIM:618314
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Hepatosplenomegaly, Acute kidney... ORPHA:731
Glutathionuria
Gray matter heterotopia OMIM:231950
Cln5 Disease
Inability to walk, Hyperactivity, Ataxia, Unsteady gait, Anxiety, Dysdiadochokinesis, Aggressive ... ORPHA:228360
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Ovotestis, Sex reversal, Adrenal gland agenesis, Renal agenesis, Hypos... OMIM:611812
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Blepharocheilodontic Syndrome 1
Conical tooth, Anal atresia, Hypodontia, Neural tube defect, Cleft upper lip OMIM:119580
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased testicular size, Premature ovarian insufficiency, Micropenis, Hypogona... ORPHA:3464
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:613546
Bardet-Biedl Syndrome 12
Hydronephrosis, Hypogonadism, Hydrometrocolpos, Hydroureter, Vaginal atresia, Cystic renal dysplasia OMIM:615989
Igg4-Related Kidney Disease
Enlarged kidney, Urethritis, Albuminuria, Sterile pyuria, Hydronephrosis, Proteinuria, Chronic ki... ORPHA:449395
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney, Pancreatic fibrosis OMIM:200995
Bardet-Biedl Syndrome 17