Gene Summary

Name:
carbohydrate sulfotransferase 8
Synonyms:
1500011J21Rik,  GalNAc4ST-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Chst8tm1b(KOMP)Mbp HOM Early adult 0.00
abnormal vibrissa morphology Chst8tm1b(KOMP)Mbp HOM Early adult 9.80×10-06
increased circulating aspartate transaminase level Chst8tm1b(KOMP)Mbp HOM Early adult 8.98×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Cerebellum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

8 Images

Adult LacZ

LacZ Images Section

33 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Human diseases caused by Chst8 mutations

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

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

The table below shows human diseases associated to Chst8 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Peeling Skin Syndrome 3
OMIM:616265

The table below shows human diseases predicted to be associated to Chst8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... OMIM:619146
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Premature Ovarian Failure 18
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... OMIM:619203
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... OMIM:618723
Premature Ovarian Failure 6
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Streak ovary, Fema... OMIM:612310
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
46,Xy Sex Reversal 1
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... OMIM:400044
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Labial hypoplasia, Female external genit... OMIM:300068
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Amenorrhea, Premature pubarche OMIM:145295
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Increased serum testosterone level, Increased circulating androste... ORPHA:90795
Premature Ovarian Failure 1
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... ORPHA:314478
Polyembryoma
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormality of the... ORPHA:180229
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Premature Ovarian Failure 9
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Ovarian Dysgenesis 1
Primary amenorrhea, Gonadal dysgenesis, Increased circulating gonadotropin level OMIM:233300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Ovarian Dysgenesis 8
Hypoplastic labia majora, Elevated circulating luteinizing hormone level, Primary amenorrhea, Ele... OMIM:618187
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Hydatidiform Mole
Hyperthyroidism, Spontaneous abortion, Menometrorrhagia, Enlarged uterus ORPHA:99927
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Ele... OMIM:176400
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Impaired social interactions, Absence of secondary sex characteristics... ORPHA:163976
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Premature Ovarian Failure 8
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... OMIM:615723
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... ORPHA:247768
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency... ORPHA:91354
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
Pituicytoma
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... ORPHA:251623
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat... ORPHA:2410
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Estrogen Resistance Syndrome
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... ORPHA:785
Familial Hyperprolactinemia
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism ORPHA:397685
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Shyness, Absence of secondary sex characteristics, Increased circulating gonadotropi... ORPHA:163971
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... OMIM:618014
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Fu... ORPHA:90794
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... ORPHA:562
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:289548
Ovarian Dysgenesis 7
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus OMIM:618117
46,Xx Gonadal Dysgenesis
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Delayed puberty, Decreased ... ORPHA:243
49,Xxxyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Micropenis, Ambiguous geni... ORPHA:261534
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Spontaneous abortion, Clitoral hypertrophy, Congenital adrena... ORPHA:96181
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Hypogonadism, Cryptorchidism, Decreased testicular size... OMIM:300869
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Pituitary Gigantism
Type II diabetes mellitus, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary gr... ORPHA:99725
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... ORPHA:347
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Premature pubarche OMIM:612847
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness, Precocious puberty OMIM:300801
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:146110
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypoplastic labia minora, Self-injurious behavior, Premature adrenarche, Decreased response to gr... ORPHA:98754
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Aggressive behavior, Hypogonadism, Cryptorchidism, Precocious puberty, Gonadal dysge... ORPHA:3306
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypoplastic labia minora, Self-injurious behavior, Premature adrenarche, Decreased response to gr... ORPHA:98793
Central Precocious Puberty
Hypothalamic hamartoma, Isosexual precocious puberty, Premature thelarche, Increased circulating ... ORPHA:759
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea, Cerebral atrophy OMIM:212840
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth hormone conc... ORPHA:90301
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypoplastic labia minora, Self-injurious behavior, Premature adrenarche, Decreased response to gr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypoplastic labia minora, Self-injurious behavior, Premature adrenarche, Decreased response to gr... ORPHA:177901
Sim1-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Premature adrenarche, Micropenis, Infertility, Type II diabetes mellitu... ORPHA:398079
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Perrault Syndrome 1
Primary amenorrhea, Gonadal dysgenesis, Increased circulating gonadotropin level OMIM:233400
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... ORPHA:64739
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Neopla... ORPHA:457059
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
O'Donnell-Luria-Rodan Syndrome
Skin-picking, Self-injurious behavior, Aggressive behavior, Abnormal corpus callosum morphology, ... OMIM:618512
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... ORPHA:572333
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty ORPHA:217377
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Anxiety, Hypogonadotropic hypogonadis... ORPHA:432
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Megalencephaly, Abnormal corpus callosum morphology, Abnormality of t... ORPHA:280195
Temple Syndrome
Cryptorchidism, Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormo... ORPHA:254516
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility ORPHA:1643
Prader-Willi-Like Syndrome
Hypoplastic labia minora, Self-injurious behavior, Premature adrenarche, Decreased inhibin B leve... ORPHA:398073
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Aggressive behavior, Elevated circulating growth hormone concentration, Decreased... ORPHA:85327
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating follicle stimulating hormone level, Type I diabetes mellitus, Breast aplasia... ORPHA:3044
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Gonadal dysgenesis, Hypergonadotropic hypogonadism OMIM:607080
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Precocious puberty, Hypoplasia of the corpus callosum, Cortical dysplasia, M... ORPHA:457260
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... ORPHA:99330
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Premature Ovarian Failure 2B
Primary amenorrhea, Delayed puberty, Premature ovarian insufficiency OMIM:300604
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Irritability, Cerebral atrophy, Premature pubarche ORPHA:457205
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Emotional lability, Irritability, Decreased testicular ... OMIM:201100
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:305400
Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... ORPHA:91
Cortisone Reductase Deficiency 2
Premature pubarche OMIM:614662
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, ... ORPHA:280356
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... ORPHA:1916
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Clit... ORPHA:528
Perrault Syndrome 3
Hypoplasia of the uterus, Primary amenorrhea, Microcephaly, Hypergonadotropic hypogonadism OMIM:614129
Autosomal Recessive Spastic Paraplegia Type 26
Hyperintensity of cerebral white matter on MRI, Cerebral cortical atrophy, Premature ovarian insu... ORPHA:101006
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Impaired social interactions, Precocious puberty, Poor eye ... ORPHA:254531
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteris... ORPHA:2232
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cor... ORPHA:786
Ovarian Dysgenesis 5
Primary amenorrhea, Hypoplasia of the uterus OMIM:617690
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Dysmenorrhea, Uterus didelphys, Metrorrhagia, Dyspareunia, Partial vaginal septum, A... ORPHA:3411
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Testicular Agenesis
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... ORPHA:325124
Prader-Willi Syndrome
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Diabetes mellitus, Inf... ORPHA:739
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... ORPHA:95699
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Precocious puberty, Congenital hypothyroidism OMIM:614736
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... ORPHA:95619
Mccune-Albright Syndrome
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... OMIM:174800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Macroorchidism, Aggressive behavior, Irritability, Abnorm... ORPHA:3077
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Estrogen Resistance
Primary amenorrhea, Hyperinsulinemia, Hypoplasia of the uterus OMIM:615363
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadi... ORPHA:3085
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Magel2-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Central hypothyroidism, Skin-picking, Infertility, Type II diabetes mel... ORPHA:398069
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Long penis, Insulin-resistant diabetes mellitus, Enlarged ova... ORPHA:769
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Anxiety, Amenorrhea, Cerebral cortical atrophy, Premature ovarian insufficiency OMIM:619425
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Long penis, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, Clitoral hypertrophy, Pre... OMIM:262190
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Prader-Willi Syndrome
Hypoplastic labia minora, Adrenal insufficiency, Infertility, Type II diabetes mellitus, Oligomen... OMIM:176270
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hypoplasia of the corpus callosum, Precocious puberty, Microcephaly OMIM:300958
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Hypogonadotropic hypogonadism ORPHA:494
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... ORPHA:361
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Head-banging, Microcephaly OMIM:619356
Leukoencephalopathy With Vanishing White Matter
Secondary amenorrhea, Leukoencephalopathy, Emotional lability, Primary amenorrhea, Decreased circ... OMIM:603896
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Fragile X Syndrome
Self-injurious behavior, Macroorchidism, Anxiety, Cerebral cortical atrophy ORPHA:908
Global Developmental Delay With Speech And Behavioral Abnormalities
Microcephaly, Cryptorchidism, Precocious puberty, Supernumerary nipple OMIM:619243
Partington Syndrome
Macroorchidism ORPHA:94083
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... ORPHA:453533
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Poor eye contact OMIM:300624
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... OMIM:110100
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty ORPHA:254525
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus... ORPHA:2298
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614880
17Q11.2 Microduplication Syndrome
Macroorchidism, Microcephaly ORPHA:139474
Leptin Deficiency Or Dysfunction
Hypogonadism, Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size OMIM:614962
Donohue Syndrome
Long penis, Clitoral hypertrophy, Pancreatic islet-cell hyperplasia, Precocious puberty, Hyperins... OMIM:246200
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:616030
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary growth hormone ce... OMIM:102200
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Hepatomegaly, Aggressive behavior, Self-mutilation, Poor eye contact, Low frustrati... ORPHA:163681
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:157954
Prolactinoma
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... ORPHA:2965
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Emotional lability, Macroorchidism, Male hypogonadism, Microcephaly OMIM:300055
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Neoplasm of the pancreas, Pancreatitis, Metrorrhagia, Precocious puberty, Uteri... ORPHA:370348
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Aggressive behavior, Pituitary hypothyroidism, Diabetes mellitu... OMIM:614963
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Self-injurious behavior, Irritability, Cerebral atrophy, Precocious pu... ORPHA:447980
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Anxiety, Polycystic ovaries, Microcephaly ORPHA:284180
Tonne-Kalscheuer Syndrome
Hypospadias, Shyness, Self-injurious behavior, Aggressive behavior, Micropenis, Anxiety, Cryptorc... OMIM:300978
Ollier Disease
Precocious puberty ORPHA:296
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... ORPHA:2795
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Silver-Russell Syndrome
Hypospadias, Abnormal vagina morphology, Premature adrenarche, Precocious puberty, Abnormality of... ORPHA:813
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... ORPHA:95512
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... ORPHA:95513
9P13 Microdeletion Syndrome
External genital hypoplasia, Precocious puberty ORPHA:324313
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Amenorrhea, Abnormality of the e... OMIM:158330
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... ORPHA:3464
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Endometrial carcinoma,... ORPHA:90790
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Cryptorchidism, Precocious puberty ORPHA:96184
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... ORPHA:3130
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Hypoplasia of the ovary, Abse... ORPHA:2235
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Hypoplasia of the corpus callosum, Poor eye contact, Cerebral cortical a... OMIM:617820
19P13.12 Microdeletion Syndrome
Hypospadias, Self-injurious behavior, Hypothyroidism, Cryptorchidism, Hypoplasia of the corpus ca... ORPHA:254346
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Diabetes mellitus, Primary amenorrhea, Cryptorchidism,... OMIM:610628
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased ... ORPHA:79085
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Secondary amenorrhea, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Polycy... OMIM:268020
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... ORPHA:752
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... ORPHA:91347
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... OMIM:241080
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries, Pancreatitis, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Choreoacanthocytosis
Hepatomegaly, Hair-pulling, Caudate atrophy, Self-injurious behavior, Aggressive behavior, Self-m... ORPHA:2388
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Brunner Syndrome
Self-injurious behavior, Aggressive behavior, Low frustration tolerance OMIM:300615
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... OMIM:262600
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism OMIM:612702
Seckel Syndrome 7
Central hypothyroidism, Primary amenorrhea, Microcephaly, Hypoplasia of the uterus OMIM:614851
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callosu... OMIM:615282
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Prima... OMIM:604367
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Progressive microcephaly, Impaired social interactions ORPHA:397933
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... ORPHA:435651
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hypospadias, Adrenal hyperplasia, Bifid scrotum, Absent scrotum, Micropenis, Ambiguous genitalia,... OMIM:201810
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Microcephaly, Periventricular leukomalacia, Abnorma... ORPHA:485350
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Elevated circulating luteinizing hormone level, Agenesis of corpus callosum, Elevated circulating... OMIM:618419
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Apathy,... ORPHA:465508
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Micropenis, Anxiety, Decreased response to growth hormone stimulation test, Decr... ORPHA:457240
Luscan-Lumish Syndrome
Shyness, Aggressive behavior, Polycystic ovaries, Anxiety, Irregular menstruation OMIM:616831
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Cryptorchidism, Progressive microcephaly, Cerebral atrophy OMIM:618917
Lujan-Fryns Syndrome
Macroorchidism, Aplasia/Hypoplasia of the corpus callosum ORPHA:776
Gilles De La Tourette Syndrome
Aggressive behavior, Self-mutilation OMIM:137580
Slc35A2-Cdg
Cerebral white matter atrophy, Cortical dysplasia, Abnormal cerebral white matter morphology, Ele... ORPHA:356961
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Secondary microcephaly OMIM:618339
Radio-Tartaglia Syndrome
Aggressive behavior, Poor eye contact, Precocious puberty, Agenesis of corpus callosum, Microcephaly OMIM:619312
Developmental And Epileptic Encephalopathy 31
Self-injurious behavior, Cerebral atrophy OMIM:616346
Leprechaunism
Central hypothyroidism, Hepatomegaly, Long penis, Enlarged ovaries, Labial hypertrophy, Clitoral ... ORPHA:508
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased ... ORPHA:435660
Obsessive-Compulsive Disorder
Skin-picking, Anxiety OMIM:164230
Smith-Magenis Syndrome
Self-injurious behavior, Aplasia/Hypoplasia of the corpus callosum, Hypothyroidism, Anxiety, Prec... ORPHA:819
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Enlarged ovaries, Abnormal corpus callosum morphology, Bicornuate ute... ORPHA:2745
Angelman Syndrome
Precocious puberty in females, Happy demeanor, Self-injurious behavior, Aggressive behavior, Poor... ORPHA:72
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Kleefstra Syndrome Due To A Point Mutation
Self-injurious behavior, Abnormal cerebral white matter morphology, Hypoplasia of the corpus call... ORPHA:261652
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty ORPHA:2788
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior OMIM:619031
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Diabetes mellitus OMIM:608709
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior OMIM:617270
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Primary microcephaly, Irritability, Secondary microcephaly, Hypoplasia of the corpu... ORPHA:447997
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism OMIM:615524
Trichotillomania
Hair-pulling OMIM:613229
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulati... ORPHA:90674
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Cervix cancer, Enlarged polycystic ovaries ORPHA:2869
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Self-mutilation, External genital hypoplasia, Hypogonadism, Micropenis, Decreased testicular size ORPHA:3041
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Self-injurious behavior, Aggressive behavior OMIM:300699
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Microcephaly, Hypoplasia of penis, Uterus didelphys, Hypothyroidism ORPHA:2491
Myhre Syndrome
Hypospadias, Abnormal penis morphology, External genital hypoplasia, Hypogonadism, Cryptorchidism... ORPHA:2588
Pituitary Stalk Interruption Syndrome
Diabetes insipidus, Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Adrena... ORPHA:95496
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Fibrous Dysplasia Of Bone
Hyperpituitarism, Precocious puberty in females, Thyroid carcinoma, Increased circulating cortiso... ORPHA:249
Mental Retardation With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Anxiety, Aggressive behavior OMIM:613670
Pituitary Apoplexy
Increased circulating prolactin concentration, Oligomenorrhea, Hypergonadotropic hypogonadism, In... ORPHA:95613
Alg6-Cdg
Increased circulating androgen concentration, Puberty and gonadal disorders ORPHA:79320
Hemochromatosis, Type 2A
Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly OMIM:602390
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia, Primary amenorrhea, Male pseudo... OMIM:202110
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypospadias, Insulin-resistant diabetes mellitus, Neoplasm of the pancreas, Decreased serum estra... ORPHA:2959
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Polymicrogyria, Cerebral atrophy, Hypoplasia of the corpus callosum, Mic... OMIM:614254
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Cryptorchidism, Hypoplasia of penis, Microcephaly ORPHA:228402
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea OMIM:264270
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Decreased serum estradiol, Primary... OMIM:604168
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Hypogonadotropic hypogonadism, Erectile dysfunc... ORPHA:478
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Primary amenorrhea, Bicornuate uterus OMIM:191830
Pallister-Hall Syndrome
Hypothalamic hamartoma, Decreased response to growth hormone stimulation test, Precocious puberty... OMIM:146510
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior OMIM:618362
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Hepatomegaly, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resi... ORPHA:79083
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Precocious puberty OMIM:615877
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Premature adrenarche, Decreased response to growth hormone stimulation test, Hyperhi... ORPHA:96182
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis OMIM:136680
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Gangliocytoma
Abnormal prolactin level, Amenorrhea, Decreased female libido, Abnormality of the pituitary gland... ORPHA:251937
Smith-Magenis syndrome
Self-mutilation DECIPHER:8
Carpenter Syndrome 1
External genital hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Cerebral atrophy, Cryptor... OMIM:201000
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Developmental And Epileptic Encephalopathy 59
Self-injurious behavior OMIM:617904
Bainbridge-Ropers Syndrome
Self-injurious behavior, Dilation of lateral ventricles, Cryptorchidism, Hypoplasia of the corpus... OMIM:615485
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
N-Acetylaspartate Deficiency
Self-mutilation, Microcephaly OMIM:614063
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Monosomy 22Q13.3
Hair-pulling, Agenesis of corpus callosum, Hypohidrosis ORPHA:48652
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Polycystic ovaries, Premature thelarche, Type I diabetes mellitus ORPHA:371428
8P Inverted Duplication/Deletion Syndrome
Aplasia/Hypoplasia of the gallbladder, Micropenis, Cryptorchidism, Precocious puberty, Agenesis o... ORPHA:96092
Ataxia-Telangiectasia
Type II diabetes mellitus, Polycystic ovaries, Abnormal testis morphology, Diabetes mellitus, Apl... ORPHA:100
Alexander Disease
Megalencephaly, Self-injurious behavior, Emotional lability, Diabetes mellitus, Hyperhidrosis, Ce... ORPHA:58
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Septate vagina, Primary amenorrhea, ... OMIM:146255
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Microcephaly, Hypoplasia of the corpus callosum, Precocious puberty, Abnormality of female extern... ORPHA:2637
Non-Acquired Panhypopituitarism
Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... ORPHA:90695
Pituitary Carcinoma
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Pitu... ORPHA:300385
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Hypospadias, Self-injurious behavior, Cryptorchidism, Microcephaly ORPHA:435938
16P13.2 Microdeletion Syndrome
Dilated third ventricle, Skin-picking, Cerebral white matter atrophy, Aggressive behavior, Hypogo... ORPHA:500055
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Micropenis, Hypointensity of cerebral white matter on MRI, Aggressive be... OMIM:300860
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Acute pancreatitis, Diabetes mellitus, E... OMIM:617253
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Hypoplasia of the corpus callosum OMIM:618760
Lig4 Syndrome
Amenorrhea, Micropenis, Hypothyroidism, Cryptorchidism, Microcephaly OMIM:606593
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... ORPHA:2348
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Meningioma
Enlarged pituitary gland, Amenorrhea, Decreased circulating cortisol level, Hypothalamic hypothyr... ORPHA:2495
Schimmelpenning-Feuerstein-Mims Syndrome
Hemimegalencephaly, Precocious puberty OMIM:163200
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:609441
16P12.1P12.3 Triplication Syndrome
Skin-picking, Bilateral cryptorchidism, Anxiety, Decreased response to growth hormone stimulation... ORPHA:485405
Preeclampsia
Polycystic ovaries, Type I diabetes mellitus ORPHA:275555
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly ORPHA:324410
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Interhypothalamic Adhesion, Micropenis, Anxiety, Cryptorchidism, Agenesi... OMIM:618929
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Self-injurious behavior, Hyperhidrosis OMIM:615548
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Microcephaly, Polycystic ovaries ORPHA:1580
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Secondary amenorrhea, Atypical pulmonary carcinoid tumor, Neoplasm of the th... ORPHA:99889
Baker-Gordon Syndrome
Self-injurious behavior OMIM:618218
Phenylketonuria
Aggressive behavior, Self-mutilation, Irritability, Cerebral calcification, Anxiety, Microcephaly OMIM:261600
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Labial hypertrophy, Cryptorchidism, Neonatal insulin-dependent diabet... ORPHA:96191
Pettigrew Syndrome
Self-injurious behavior, Cerebral calcification, Abnormality of the basal ganglia OMIM:304340
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Irritability, Premature ovarian insufficiency, Abnormal cerebral white matte... ORPHA:391307
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Increased serum testosterone level, Abnormal corpus striatum morphology, Type II dia... ORPHA:3455
Interstitial Cystitis
Abnormal vagina morphology, Abnormality of the menstrual cycle, Dyspareunia, Abnormal labia morph... ORPHA:37202
Mental Retardation, Autosomal Recessive 48
Aggressive behavior, Self-mutilation OMIM:616269
Caudal Duplication
Cryptorchidism, Abnormal penis morphology, Uterus didelphys ORPHA:1756
Cri-Du-Chat Syndrome
Hypospadias, Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Overfriendlin... OMIM:123450
Smith-Lemli-Opitz Syndrome
Hypospadias, Hypoplasia of the frontal lobes, Bifid scrotum, Aggressive behavior, Self-mutilation... OMIM:270400
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Increased serum testosterone level, Long penis, Cryptorchidism, Agenesis of corpus c... OMIM:264090
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis, Splenomegaly ORPHA:90970
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Richards-Rundle Syndrome
Hypogonadism, Aggressive behavior, Primary amenorrhea, Absence of secondary sex characteristics OMIM:245100
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Hyperthyroidism, Irritab... ORPHA:449291
Tuberous Sclerosis 1
Hemimegalencephaly, Adenoma sebaceum, Cortical tubers, Hypothyroidism, Cerebral calcification, Pr... OMIM:191100
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Chordee, Posterior pituitary hypoplasia, Decreased response to growth hormone stimul... ORPHA:268261
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism, Polymicrogyria, Microcephaly OMIM:618874
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature thelarche, Hypothyroidism, Cerebral atrophy, Microcephaly, Premature pubarche OMIM:616878
Cowden Syndrome
Abnormal penis morphology, Goiter, Endometrial carcinoma, Adenoma sebaceum, Neoplasm of the thyro... ORPHA:201
Bifid Nose With Or Without Anorectal And Renal Anomalies
Rectovaginal fistula, Precocious puberty OMIM:608980
Pallister-Hall Syndrome
Hypospadias, Abnormal prolactin level, Arrhinencephaly, Thyroid hypoplasia, Micropenis, Adrenal h... ORPHA:672
Lesch-Nyhan Syndrome
Testicular atrophy, Self-injurious behavior OMIM:300322
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos OMIM:237100
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Type II diabetes mellitus, Precocious puberty, Microcephaly OMIM:210720
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Cerebral atrophy OMIM:617268
X-Linked Intellectual Disability Due To Gria3 Mutations
Aggressive behavior, Self-mutilation, Poor eye contact, Micropenis, Cryptorchidism, Hypoplasia of... ORPHA:364028
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Pineal cyst, Abnormal social behavior, Decreased response to growth hormone stimulat... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Pineal cyst, Abnormal social behavior, Decreased response to growth hormone stimulat... ORPHA:363958
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Self-injurious behavior, Cryptorchidism, Hypoplasia of the corpus callosum ORPHA:494344
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Sex reversal, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Tay-Sachs Disease
Anxiety, Hypointensity of cerebral white matter on MRI, Precocious puberty, Abnormal thalamic MRI... ORPHA:845
Prune Belly Syndrome
Congenital posterior urethral valve, Urogenital sinus anomaly, Abnormality of the uterus, Cryptor... ORPHA:2970
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314473
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Micropenis, Low frustration tolerance, Cryptorchidism, Microphallus OMIM:300486
Tuberous Sclerosis 2
Hemimegalencephaly, Adenoma sebaceum, Cortical tubers, Hypothyroidism, Cerebral calcification, Pr... OMIM:613254
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Anxiety, Shawl scrotum OMIM:145420
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Self-mutilation ORPHA:412035
Hand-Foot-Genital Syndrome
Hypospadias, Spontaneous abortion, Abnormality of the uterus, Bicornuate uterus, Abnormality of t... ORPHA:2438
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Aggressive behavior, Cholelithiasis, Hepatosplenomegaly, Precocious puberty OMIM:301066
Early Infantile Epileptic Encephalopathy
Diffuse white matter abnormalities, Self-injurious behavior, Pachygyria, Micropenis, Diffuse cere... ORPHA:1934
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Amed Syndrome, Digenic
Adrenal hypoplasia, Microcephaly, Hypoplasia of the uterus OMIM:619151
Non-Specific Syndromic Intellectual Disability
Small scrotum, Abnormal corpus callosum morphology, Frontal cortical atrophy, Panic attack, Crypt... ORPHA:528084
Trisomy 20P
Hypospadias, Macroorchidism, Cryptorchidism ORPHA:261318
Donnai-Barrow Syndrome
Abnormality of the uterus, Bicornuate uterus, Aplasia/Hypoplasia of the corpus callosum ORPHA:2143
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Abnormal aggres... ORPHA:96263
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Aggressive behavior OMIM:619467
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Anxiety, Aggressive behavior OMIM:271980
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Decreased response to growth hormone stimulation test OMIM:601853
Cowden Syndrome 6
Goiter, Thyroid adenoma, Varicocele, Hyperthyroidism, Thyroiditis, Hypothyroidism, Ovarian cyst, ... OMIM:615109
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Infertility, Agenesis of corpus callosum, Septo-optic dysplasia, Amenor... ORPHA:95494
Kleefstra Syndrome 2
Self-injurious behavior, Microcephaly OMIM:617768
Cowden Syndrome 5
Goiter, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Ovarian cyst, Hydrocele te... OMIM:615108
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Self-injurious behavi... ORPHA:544488
Kleefstra Syndrome
Hypospadias, Self-injurious behavior, Aggressive behavior, Self-mutilation, Cerebral cortical atr... ORPHA:261494
Spastic Paraplegia 26, Autosomal Recessive
Emotional lability, Cerebral cortical atrophy, Decreased serum testosterone concentration OMIM:609195
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome